| scholarly article | Q13442814 |
| P50 | author | Stephen W. Scherer | Q7610775 |
| Lars Feuk | Q58205481 | ||
| Patricia K. Donahoe | Q63442029 | ||
| A John Iafrate | Q100503620 | ||
| P2093 | author name string | Charles Lee | |
| Ying Qi | |||
| Miguel N Rivera | |||
| Marc L Listewnik | |||
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| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 949-51 | |
| P577 | publication date | 2004-09-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Detection of large-scale variation in the human genome | |
| P478 | volume | 36 |
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| Q34561288 | A 360-kb interchromosomal duplication of the human HYDIN locus |
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| Q38652474 | A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans |
| Q57990776 | A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility |
| Q34560216 | A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus |
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| Q54986084 | A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. |
| Q35900958 | A Single-Array-Based Method for Detecting Copy Number Variants Using Affymetrix High Density SNP Arrays and its Application to Breast Cancer |
| Q30986232 | A Sparse Model Based Detection of Copy Number Variations From Exome Sequencing Data |
| Q34078670 | A cancer-specific transcriptional signature in human neoplasia |
| Q35221469 | A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination |
| Q24678661 | A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon |
| Q33594892 | A classification model for distinguishing copy number variants from cancer-related alterations |
| Q34563854 | A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. |
| Q33739397 | A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications |
| Q36769624 | A common deletion in the APOBEC3 genes and breast cancer risk |
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| Q48309066 | A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders |
| Q34046262 | A community standard for immunogenomic data reporting and analysis: proposal for a STrengthening the REporting of Immunogenomic Studies statement |
| Q45777510 | A comparative analysis of two tissue procurement approaches for the genomic profiling of clinical colorectal cancer samples |
| Q42038979 | A comparison of genomic copy number calls by Partek Genomics Suite, Genotyping Console and Birdsuite algorithms to quantitative PCR |
| Q37717619 | A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome |
| Q35616521 | A comprehensive analysis of common copy-number variations in the human genome |
| Q37366485 | A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among Koreans |
| Q36641203 | A comprehensive review of genetics and genetic testing in azoospermia |
| Q37318482 | A computational procedure to identify significant overlap of differentially expressed and genomic imbalanced regions in cancer datasets |
| Q40590826 | A copy number variation in PKD1L2 is associated with colorectal cancer predisposition in korean population |
| Q28256361 | A copy number variation map of the human genome |
| Q35032843 | A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis |
| Q33748392 | A de novo genome assembly algorithm for repeats and nonrepeats |
| Q58193214 | A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum |
| Q38422577 | A decade of structural variants: description, history and methods to detect structural variation |
| Q34544503 | A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events |
| Q28744110 | A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 |
| Q33903385 | A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data |
| Q56986520 | A first comparative map of copy number variations in the sheep genome |
| Q33403709 | A flexible rank-based framework for detecting copy number aberrations from array data |
| Q43742579 | A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability. |
| Q28475004 | A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose |
| Q52687665 | A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia. |
| Q28270097 | A genome-wide comparison of recent chimpanzee and human segmental duplications |
| Q41008135 | A genome-wide scan for copy number variations using high-density single nucleotide polymorphism array in Simmental cattle |
| Q35738118 | A genome-wide study of moyamoya-type cerebrovascular disease in the korean population |
| Q38497680 | A genome-wide survey of copy number variation regions in various chicken breeds by array comparative genomic hybridization method |
| Q44799780 | A genome-wide survey of copy number variations in Han Chinese residing in Taiwan |
| Q34056064 | A genome-wide survey of structural variation between human and chimpanzee |
| Q35159036 | A genomic point-of-view on environmental factors influencing the human brain methylome |
| Q37206337 | A geometric approach for classification and comparison of structural variants |
| Q24679827 | A haplotype map of the human genome |
| Q48134065 | A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depression |
| Q27315085 | A high-resolution map of segmental DNA copy number variation in the mouse genome |
| Q94465012 | A high-resolution survey of deletion polymorphism in the human genome |
| Q33847717 | A large expansion of the HSFY gene family in cattle shows dispersion across Yq and testis-specific expression |
| Q33395842 | A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan |
| Q38652706 | A local duplication of the Melanocortin receptor 1 locus in Astyanax. |
| Q34075621 | A map of copy number variations in Chinese populations |
| Q27930879 | A mechanism of gene amplification driven by small DNA fragments |
| Q37191290 | A method for calling copy number polymorphism using haplotypes. |
| Q33404060 | A microhomology-mediated break-induced replication model for the origin of human copy number variation |
| Q34077410 | A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome |
| Q30585197 | A model-based clustering method for genomic structural variant prediction and genotyping using paired-end sequencing data |
| Q41752874 | A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first |
| Q38013966 | A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease |
| Q54603797 | A new recurrent 9q34 duplication in pediatric T-cell acute lymphoblastic leukemia. |
| Q28265563 | A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution |
| Q50516159 | A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25. |
| Q41936568 | A novel microdeletion/microduplication syndrome of 19p13.13. |
| Q33997195 | A novel molecular signature identified by systems genetics approach predicts prognosis in oral squamous cell carcinoma |
| Q35170086 | A novel signal processing approach for the detection of copy number variations in the human genome |
| Q30479759 | A novel technique for measuring variations in DNA copy-number: competitive genomic polymerase chain reaction |
| Q37188063 | A pediatric surgeon retools in genetics and genomics to study congenital diaphragmatic hernia |
| Q41868712 | A pharmacogene database enhanced by the 1000 Genomes Project |
| Q53655457 | A phenotype map for 14q32.3 terminal deletions. |
| Q28943309 | A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum |
| Q51562472 | A population-based study of copy number variants and regions of homozygosity in healthy Swedish individuals. |
| Q46668916 | A practical guide for the functional annotation of genetic variations using SNPnexus |
| Q34591114 | A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications |
| Q52563673 | A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. |
| Q37831384 | A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism |
| Q36627230 | A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures |
| Q38070782 | A review of next-generation genetic testing for the dermatologist |
| Q37283318 | A robust framework for detecting structural variations in a genome |
| Q24647684 | A searchable database of genetic evidence for psychiatric disorders |
| Q34199796 | A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness. |
| Q33325344 | A sequence-based survey of the complex structural organization of tumor genomes |
| Q60664202 | A set of duplicons on human chromosome 9 is involved in the origin of a supernumerary marker chromosome |
| Q33392713 | A snapshot of CNVs in the pig genome |
| Q47142579 | A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors |
| Q37189872 | A stochastic inference of de novo CNV detection and association test in multiplex schizophrenia families |
| Q30573762 | A survey of copy-number variation detection tools based on high-throughput sequencing data. |
| Q33934322 | A survey of homozygous deletions in human cancer genomes |
| Q37782049 | A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies |
| Q81060314 | A treasury of exceptions |
| Q29547263 | ABySS: a parallel assembler for short read sequence data |
| Q39766475 | ACE gene dosage modulates pressure-induced cardiac hypertrophy in mice and men. |
| Q31112364 | ACTuDB, a new database for the integrated analysis of array-CGH and clinical data for tumors. |
| Q89473688 | ATR-16 syndrome: mechanisms linking monosomy to phenotype |
| Q33691665 | AVPR1A sequence variation in monogamous owl monkeys (Aotus azarai) and its implications for the evolution of platyrrhine social behavior |
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| Q24672211 | Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia |
| Q39245818 | Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder. |
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| Q45265157 | Allelic distributions of CYP2D6 gene copy number variation in the Eastern Han Chinese population |
| Q47442140 | Allelic genome structural variations in maize detected by array comparative genome hybridization |
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| Q36950691 | An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk |
| Q35112178 | An evaluation of copy number variation detection tools from whole-exome sequencing data |
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| Q33748981 | An initial comparative map of copy number variations in the goat (Capra hircus) genome |
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| Q35748322 | An integrated biochemistry and genetics outreach program designed for elementary school students |
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| Q37112105 | An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster |
| Q34439696 | Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. |
| Q36995330 | Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history |
| Q55458857 | Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1. |
| Q34134330 | Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT |
| Q40277637 | Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. |
| Q33812603 | Analysis of copy number variations among diverse cattle breeds. |
| Q34658885 | Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array |
| Q34873753 | Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample |
| Q34149825 | Analysis of genome-wide copy number variations in Chinese indigenous and western pig breeds by 60 K SNP genotyping arrays |
| Q24642329 | Analysis of molecular inversion probe performance for allele copy number determination |
| Q45051681 | Analysis of segmental duplications reveals a distinct pattern of continuation-of-synteny between human and mouse genomes |
| Q45782171 | Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). |
| Q38931465 | Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk |
| Q38733992 | Aneuploid embryonic stem cells exhibit impaired differentiation and increased neoplastic potential. |
| Q48124201 | Aneuploidy and DNA replication in the normal human brain and Alzheimer's disease |
| Q37543845 | Aneuploidy: from a physiological mechanism of variance to Down syndrome |
| Q34294530 | Animal models of psychiatric disorders that reflect human copy number variation. |
| Q31167061 | Animal phylogenomics: multiple interspecific genome comparisons |
| Q34023095 | Annotating non-coding regions of the genome |
| Q37953976 | Annual research review: impact of advances in genetics in understanding developmental psychopathology. |
| Q34190153 | Antigen-presenting genes and genomic copy number variations in the Tasmanian devil MHC |
| Q51592927 | Application of genomewide SNP arrays for detection of simulated susceptibility loci. |
| Q42037700 | Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report |
| Q38798116 | Application of the cghRA framework to the genomic characterization of Diffuse Large B-Cell Lymphoma. |
| Q45883145 | Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists |
| Q57249752 | Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases |
| Q39994687 | Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients |
| Q38160092 | Array CGH as a first-tier test for neonates with congenital heart disease |
| Q33397024 | Array CGH in human leukemia: from somatics to genetics |
| Q37444640 | Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects |
| Q35162291 | Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants |
| Q36141621 | Array comparative genomic hybridization and its applications in cancer |
| Q45973697 | Array comparative genomic hybridization identifies genetic regions associated with outcome in aggressive diffuse large B-cell lymphomas. |
| Q41808692 | Array comparative genomic hybridization reveals genomic copy number changes associated with outcome in diffuse large B-cell lymphomas |
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| Q34104246 | Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis. |
| Q43170661 | Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents |
| Q51891064 | Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development. |
| Q21261428 | Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration |
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| Q51584754 | Array-based comparative genome hybridization in clinical genetics. |
| Q36927121 | Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders |
| Q36662417 | Array-based comparative genomic hybridization and copy number variation in cancer research. |
| Q36737126 | Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yields |
| Q36150386 | Array-based comparative genomic hybridization in clinical diagnosis |
| Q36943622 | Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs |
| Q80513371 | As normal as normal can be? |
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| Q36673714 | Assessing the risks of genotoxicity in the therapeutic development of induced pluripotent stem cells |
| Q36918047 | Assessment of PAX6 alleles in 66 families with aniridia. |
| Q35593347 | Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study |
| Q47642566 | Association between HLA-DQA1 gene copy number polymorphisms and susceptibility to rheumatoid arthritis in Chinese Han population |
| Q41922584 | Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis |
| Q37722628 | Association between copy number variation losses and alcohol dependence across African American and European American ethnic groups |
| Q37374383 | Association between copy number variations of HLA-DQA1 and ankylosing spondylitis in the Chinese Han population |
| Q33916948 | Association between genome-wide copy number variation and arsenic-induced skin lesions: a prospective study |
| Q50306921 | Association of CDH11 with non-syndromic ASD. |
| Q59051087 | Association of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review |
| Q33417296 | Association of FCGR3A and FCGR3B copy number variations with systemic lupus erythematosus and rheumatoid arthritis in Taiwanese patients |
| Q37344866 | Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer |
| Q43801006 | Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia |
| Q46779891 | Association of higher DEFB4 genomic copy number with Crohn's disease |
| Q33659951 | Association study and expression analysis of CYP4A11 gene copy number variation in Chinese cattle |
| Q46077890 | Association study of ubiquitin-specific peptidase 46 (USP46) with bipolar disorder and schizophrenia in a Japanese population |
| Q33402873 | AssociationViewer: a scalable and integrated software tool for visualization of large-scale variation data in genomic context |
| Q38030489 | Attention-deficit/hyperactivity disorder genomics: update for clinicians |
| Q53574297 | Attenuated acute salivary α-amylase responses to gustatory stimulation with citric acid in thin children. |
| Q36772011 | Autism and cytogenetic abnormalities: solving autism one chromosome at a time |
| Q38579854 | Autism genetics: Methodological issues and experimental design |
| Q99562130 | Autism spectrum disorder genomics: The progress and potential of genomic technologies |
| Q22251055 | Autism: highly heritable but not inherited |
| Q36477619 | Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16 |
| Q53094146 | Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity. |
| Q21261511 | BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 |
| Q37202706 | BBGRE: brain and body genetic resource exchange |
| Q30936998 | BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data. |
| Q36290465 | BaalChIP: Bayesian analysis of allele-specific transcription factor binding in cancer genomes. |
| Q34671949 | Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence |
| Q33393292 | Bayesian EM algorithm for scoring polymorphic deletions from SNP data and application to a common CNV on 8q24. |
| Q42131712 | Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array |
| Q35101179 | Bayesian hierarchical structured variable selection methods with application to MIP studies in breast cancer |
| Q48323081 | Behavior genetics and postgenomics |
| Q58050554 | Benign and Unknown Copy Number Variations in Bulgarian Patients with Intellectual Disability and Congenital Malformations |
| Q34060432 | Benign copy number changes in clinical cytogenetic diagnostics by array CGH |
| Q41156123 | Benign, Pathogenic and Copy Number Variations of Unknown Clinical Significance in Patients with Congenital Malformations and Developmental Delay |
| Q24813881 | Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis |
| Q21184037 | Between a chicken and a grape: estimating the number of human genes |
| Q57905459 | Beyond the single nucleotide variant in epilepsy genetics |
| Q25257186 | Bias of selection on human copy-number variants |
| Q30795509 | Bioinformatics for next generation sequencing data |
| Q33611321 | Biological relevance of CNV calling methods using familial relatedness including monozygotic twins |
| Q34977056 | Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis |
| Q26745526 | Breeding for resistance to gastrointestinal nematodes - the potential in low-input/output small ruminant production systems |
| Q38341497 | Broad copy neutral-loss of heterozygosity regions and rare recurring copy number abnormalities in normal karyotype-acute myeloid leukemia genomes. |
| Q35016797 | Building the sequence map of the human pan-genome |
| Q25257143 | CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays |
| Q83157584 | CBF gene copy number variation at Frost Resistance-2 is associated with levels of freezing tolerance in temperate-climate cereals |
| Q57640159 | CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study |
| Q33787011 | CNNdel: Calling Structural Variations on Low Coverage Data Based on Convolutional Neural Networks |
| Q33529487 | CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics |
| Q43833993 | CNV analysis in monozygotic twin pairs discordant for urorectal malformations |
| Q36007752 | CNV analysis in the Lithuanian population |
| Q34698719 | CNV-TV: a robust method to discover copy number variation from short sequencing reads |
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| Q42783369 | CNVs in Epilepsy |
| Q36253052 | CNVs into the wild: screening the genomes of conifer trees (Picea spp.) reveals fewer gene copy number variations in hybrids and links to adaptation |
| Q28661378 | CNVs-microRNAs interactions demonstrate unique characteristics in the human genome. An interspecies in silico analysis |
| Q27022289 | CNVs: harbingers of a rare variant revolution in psychiatric genetics |
| Q33581300 | CNstream: a method for the identification and genotyping of copy number polymorphisms using Illumina microarrays |
| Q46087295 | Candidate gene copy number analysis by PCR and multicapillary electrophoresis |
| Q34789161 | Cell-based Models for Discovery of Pharmacogenomic Markers of Anticancer Agent Toxicity. |
| Q41604310 | Cells Comprising the Prostate Cancer Microenvironment Lack Recurrent Clonal Somatic Genomic Aberrations |
| Q28281114 | Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion |
| Q36863524 | Challenges and standards in integrating surveys of structural variation |
| Q36296457 | Challenges in identifying candidate amplification targets in human cancers: chromosome 8q21 as a case study |
| Q37940824 | Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond |
| Q34697737 | Chapter 15: disease gene prioritization |
| Q34539666 | Chapter 6: Structural variation and medical genomics |
| Q40862474 | Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1. |
| Q37956503 | Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics |
| Q34472208 | Characteristics of de novo structural changes in the human genome |
| Q34442939 | Characteristics of highly polymorphic segmental copy-number variations observed in Japanese by BAC-array-CGH |
| Q34134692 | Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia |
| Q35591673 | Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study. |
| Q36916665 | Characterization of breast cancer by array comparative genomic hybridization. |
| Q50311027 | Characterization of copy number-stable regions in the human genome. |
| Q34327312 | Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA |
| Q51511968 | Characterization of genomic imbalances in diffuse large B-cell lymphoma by detailed SNP-chip analysis. |
| Q46061242 | Characterization of germline copy number variation in high-risk African American families with prostate cancer |
| Q28383593 | Characterization of human chromosomal material exchange with regard to the chromosome translocations using next-generation sequencing data |
| Q81760994 | Characterization of in vivo recombination activities in the mouse embryo |
| Q37239862 | Characterization of six human disease-associated inversion polymorphisms |
| Q28742657 | Characterization of the past and current duplication activities in the human 22q11.2 region |
| Q63359159 | Characterizing the Major Structural Variant Alleles of the Human Genome |
| Q24649926 | Characterizing the cancer genome in lung adenocarcinoma |
| Q59052774 | Chemical Exposure Generates DNA Copy Number Variants and Impacts Gene Expression |
| Q41733111 | Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency |
| Q38073318 | Child development and structural variation in the human genome |
| Q21267172 | Chipster: user-friendly analysis software for microarray and other high-throughput data |
| Q36509335 | Chromosomal breakpoints in primary colon cancer cluster at sites of structural variants in the genome |
| Q36927223 | Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. |
| Q48587196 | Chromosomal imbalances and partial uniparental disomies in primary central nervous system lymphoma. |
| Q37198249 | Chromosomal instability and copy number alterations in Barrett's esophagus and esophageal adenocarcinoma |
| Q37649524 | Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience |
| Q33394269 | Chromosomal minimal critical regions in therapy-related leukemia appear different from those of de novo leukemia by high-resolution aCGH. |
| Q48862436 | Chromosome 22 tiling-path array-CGH analysis identifies germ-line- and tumor-specific aberrations in patients with glioblastoma multiforme. |
| Q36818328 | Chromosome abnormalities without phenotypic consequences |
| Q33403598 | Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes |
| Q34765937 | Chromosome evolution with naked eye: palindromic context of the life origin |
| Q55217333 | Circular DNA elements of chromosomal origin are common in healthy human somatic tissue. |
| Q46427518 | Classification of pathogenic or benign status of CNVs detected by microarray analysis |
| Q38976987 | Clinical Applications of Next-Generation Sequencing in Cancer Diagnosis |
| Q51831615 | Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. |
| Q37273662 | Clinical application of array-based comparative genomic hybridization for the identification of prognostically important genetic alterations in chronic lymphocytic leukemia |
| Q37618663 | Clinical application of targeted and genome-wide technologies: can we predict treatment responses in chronic lymphocytic leukemia? |
| Q34880381 | Clinical applications of Genome Polymorphism Scans |
| Q36380279 | Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era |
| Q26859057 | Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns |
| Q30830662 | Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases |
| Q34669910 | Clinical implications of copy number variations in autoimmune disorders |
| Q47162422 | Clinical interpretation of copy number variants in the human genome |
| Q37936089 | Clinical laboratory implementation of cytogenomic microarrays |
| Q38485747 | Clinical significance of de novo and inherited copy-number variation |
| Q42948385 | Clinical utility gene card for: 15q13.3 microdeletion syndrome. |
| Q38839935 | Clinical utility gene card for: 16p13.11 microdeletion syndrome |
| Q54314557 | Clinically significant copy number alterations and complex rearrangements of MYB and NFIB in head and neck adenoid cystic carcinoma. |
| Q36444451 | Clonal and non-clonal chromosome aberrations and genome variation and aberration. |
| Q33312214 | Closing gaps in the human genome with fosmid resources generated from multiple individuals |
| Q33837769 | Coherent somatic mutation in autoimmune disease |
| Q41771770 | Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes |
| Q37397640 | Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing |
| Q30427880 | Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness |
| Q45369313 | Combining genetic variations in CYP2C9 and VKORC1 with clinical factors for warfarin dosing determination improved clinical effectiveness |
| Q81791345 | Common 4q24 deletion in four cases of hematopoietic malignancy: early stem cell involvement? |
| Q54618648 | Common deletion polymorphisms in the human genome. |
| Q57264082 | Common deletions and SNPs are in linkage disequilibrium in the human genome |
| Q37325815 | Common genetic variation and human disease |
| Q33871171 | Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays |
| Q61906657 | Comparative genome-wide profiling of post-transplant lymphoproliferative disorders and diffuse large B-cell lymphomas |
| Q35005783 | Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells |
| Q34634689 | Comparative studies of copy number variation detection methods for next-generation sequencing technologies |
| Q37593774 | Comparing CNV detection methods for SNP arrays |
| Q37112499 | Comparing whole genomes using DNA microarrays |
| Q37200779 | Comparison of comparative genomic hybridization technologies across microarray platforms |
| Q34714916 | Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing |
| Q35587793 | Comparison of sequencing based CNV discovery methods using monozygotic twin quartets |
| Q34113547 | Comparison of strategies to detect epistasis from eQTL data |
| Q37200545 | Completing the map of human genetic variation |
| Q40365999 | Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts. |
| Q57279132 | Complex autism spectrum disorder in a patient with a 17q12 microduplication |
| Q50049429 | Complex genetics of Tourette's Syndrome: Piecing the puzzle. |
| Q35731269 | Complex human chromosomal and genomic rearrangements |
| Q52840850 | Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. |
| Q39977932 | Comprehensive analysis of the impact of SNPs and CNVs on human microRNAs and their regulatory genes |
| Q38310758 | Comprehensive assessment of DNA copy number alterations in human prostate cancers using Affymetrix 100K SNP mapping array |
| Q28732264 | Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants |
| Q24607126 | Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes |
| Q28743236 | Compressing genomic sequence fragments using SlimGene |
| Q38666005 | Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements |
| Q37618538 | Computational methods for discovering structural variation with next-generation sequencing |
| Q36122880 | Computational methods for the analysis of array comparative genomic hybridization. |
| Q21284304 | Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives |
| Q37019564 | Construction and application of a zebrafish array comparative genomic hybridization platform |
| Q33280988 | Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes |
| Q33911480 | Construction of Japanese BAC library Yamato-2 (JY2): a set of 330K clone resources of damage-minimized DNA taken from a genetically established Japanese individual |
| Q33229006 | Construction of a 2-Mb resolution BAC microarray for CGH analysis of canine tumors |
| Q35532389 | Contactin 4 as an autism susceptibility locus |
| Q37315301 | Contemplating effects of genomic structural variation |
| Q35217155 | Context-dependent individualization of nucleotides and virtual genomic hybridization allow the precise location of human SNPs |
| Q30607430 | Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients |
| Q24648672 | Contribution of SHANK3 mutations to autism spectrum disorder |
| Q33405662 | Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders |
| Q36943638 | Controversies and challenges of array comparative genomic hybridization in prenatal genetic diagnosis |
| Q55154999 | Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population. |
| Q42432410 | Copy Number Matters in Epilepsy |
| Q88584638 | Copy Number Variation Disorders |
| Q30577661 | Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data |
| Q39932364 | Copy number alterations in pancreatic cancer identify recurrent PAK4 amplification |
| Q52851946 | Copy number changes of clinically actionable genes in melanoma, non-small cell lung cancer and colorectal cancer-A survey across 822 routine diagnostic cases. |
| Q37684617 | Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis |
| Q35981240 | Copy number polymorphism in plant genomes |
| Q46096624 | Copy number polymorphisms are not a common feature of innate immune genes |
| Q44909789 | Copy number polymorphisms in new HapMap III and Singapore populations |
| Q33986398 | Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations |
| Q33364337 | Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach |
| Q37513150 | Copy number variant analysis of human embryonic stem cells |
| Q37527167 | Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization. |
| Q33303453 | Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies |
| Q34652997 | Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability |
| Q36341735 | Copy number variants and pharmacogenomics |
| Q37741019 | Copy number variants at Williams-Beuren syndrome 7q11.23 region. |
| Q93107123 | Copy number variants in lipid metabolism genes are associated with gallstones disease in men |
| Q34675355 | Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization |
| Q27005637 | Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches |
| Q36771171 | Copy number variants in the population: unselected does not mean unaffected |
| Q35694174 | Copy number variants, aneuploidies, and human disease |
| Q52602627 | Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. |
| Q35451753 | Copy number variation analysis in the great apes reveals species-specific patterns of structural variation |
| Q33595261 | Copy number variation and cytidine analogue cytotoxicity: a genome-wide association approach |
| Q36961255 | Copy number variation and evolution in humans and chimpanzees |
| Q84127418 | Copy number variation and human genome maps |
| Q39582693 | Copy number variation and selection during reprogramming to pluripotency |
| Q35795982 | Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU |
| Q33630780 | Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus |
| Q36586599 | Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion |
| Q50658828 | Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia. |
| Q34711165 | Copy number variation genotyping using family information |
| Q33421551 | Copy number variation in African Americans |
| Q37775691 | Copy number variation in chemokine superfamily: the complex scene of CCL3L-CCL4L genes in health and disease. |
| Q34019142 | Copy number variation in human health, disease, and evolution |
| Q55263562 | Copy number variation in livestock: A mini review. |
| Q33847708 | Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis |
| Q51251793 | Copy number variation in potato - an asexually propagated autotetraploid species. |
| Q52029695 | Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. |
| Q38089746 | Copy number variation in the autism genome |
| Q33574937 | Copy number variation in the bovine genome |
| Q38025959 | Copy number variation in the cattle genome. |
| Q36662414 | Copy number variation in the genome; the human DMD gene as an example |
| Q38002121 | Copy number variation in the genomes of domestic animals |
| Q27312309 | Copy number variation in the horse genome |
| Q34016146 | Copy number variation in the human genome and its implication in autoimmunity |
| Q33726145 | Copy number variation in the porcine genome inferred from a 60 k SNP BeadChip |
| Q34452241 | Copy number variation modifies expression time courses |
| Q33870542 | Copy number variation of microRNA genes in the human genome |
| Q34547826 | Copy number variation of the Lipoprotein(a) (LPA) gene is associated with coronary artery disease in a southern Han Chinese population |
| Q36718985 | Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility |
| Q33377598 | Copy number variations (CNVs) identified in Korean individuals |
| Q35135590 | Copy number variations among silkworms |
| Q37245547 | Copy number variations and cancer |
| Q37642520 | Copy number variations and cancer susceptibility |
| Q36863518 | Copy number variations and clinical cytogenetic diagnosis of constitutional disorders |
| Q36338198 | Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups |
| Q37089619 | Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome |
| Q33833588 | Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease |
| Q35109014 | Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression |
| Q39515868 | Copy number variations identified in the chicken using a 60K SNP BeadChip. |
| Q33697675 | Copy number variations in East-Asian population and their evolutionary and functional implications |
| Q35499432 | Copy number variations in high and low fertility breeding boars |
| Q35809326 | Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease |
| Q57263752 | Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions |
| Q38027937 | Copy number variations involving the microtubule-associated protein tau in human diseases |
| Q54653708 | Copy number variations of MICAL-L2 shaping gene expression contribute to different phenotypes of cattle. |
| Q34994800 | Copy number variations on chromosome 12q14 in patients with normal tension glaucoma |
| Q34060410 | Copy variations in schizophrenia and bipolar disorder |
| Q37379672 | Copy-number changes in evolution: rates, fitness effects and adaptive significance |
| Q37899884 | Copy-number changes in prenatal diagnosis |
| Q28307763 | Copy-number variation and association studies of human disease |
| Q33468694 | Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension |
| Q35641381 | Copy-number variations add a new layer of complexity in the human genome |
| Q37235652 | Copy-number variations associated with autism spectrum disorder |
| Q22251090 | Copy-number variations associated with neuropsychiatric conditions |
| Q34458832 | Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis |
| Q35725453 | Copy-number variations observed in a Japanese population by BAC array CGH: summary of relatively rare CNVs |
| Q35724358 | Cost-effective prediction of gender-labeling errors and estimation of gender-labeling error rates in candidate-gene association studies |
| Q89641261 | Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders |
| Q42117684 | Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype |
| Q46101812 | Cuff-induced vascular intima thickening is influenced by titration of the Ace gene in mice |
| Q27015027 | Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment |
| Q40646796 | Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation |
| Q21261507 | Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis |
| Q37011287 | Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female |
| Q26775039 | Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants |
| Q37222110 | Cytogenetics and the evolution of medical genetics |
| Q24644530 | DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources |
| Q26994958 | DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders |
| Q36022165 | DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism |
| Q90283028 | DNA Copy Number Variations as Markers of Mutagenic Impact |
| Q47620098 | DNA copy number profiling in microsatellite-stable and microsatellite-unstable hereditary non-polyposis colorectal cancers by targeted CNV array |
| Q37258955 | DNA microarray and proteomic strategies for understanding alcohol action |
| Q37159006 | DNA sequencing methods in human genetics and disease research |
| Q37374228 | DNA variations in human and medical genetics: 25 years of my experience |
| Q24296485 | DPY19L2 deletion as a major cause of globozoospermia |
| Q34426629 | De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining |
| Q92688488 | De novo and biallelic DEAF1 variants cause a phenotypic spectrum |
| Q40856330 | De novo assembly and genotyping of variants using colored de Bruijn graphs |
| Q57275004 | De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations |
| Q52647146 | De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders. |
| Q30647055 | De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly |
| Q43741241 | Decoding complex patterns of genomic rearrangement in hepatocellular carcinoma. |
| Q37363516 | Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans |
| Q35691099 | Defining "mutation" and "polymorphism" in the era of personal genomics |
| Q35821428 | Defining molecular and cellular responses after low and high linear energy transfer radiations to develop biomarkers of carcinogenic risk or therapeutic outcome |
| Q33740241 | Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia |
| Q35619043 | Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome? |
| Q51831412 | Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. |
| Q36120054 | Deletions in the genomes of fifteen inbred mouse lines and their possible implications for fat accumulation |
| Q53240786 | Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22. |
| Q35119804 | Deregulation of COMMD1 is associated with poor prognosis in diffuse large B-cell lymphoma |
| Q35877499 | Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities. |
| Q83680991 | Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome |
| Q40389355 | Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH. |
| Q34191367 | Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p |
| Q57783644 | Detecting Copy Number Variation via Next Generation Technology |
| Q33820514 | Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm |
| Q41815975 | Detecting copy number variation with mated short reads |
| Q34124844 | Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS. |
| Q36023247 | Detecting simultaneous changepoints in multiple sequences |
| Q34831573 | Detecting structural variations in the human genome using next generation sequencing |
| Q51931063 | Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing. |
| Q38068938 | Detection and interpretation of genomic structural variation in health and disease. |
| Q33776290 | Detection and reconstruction of tandemly organized de novo copy number variations |
| Q36260039 | Detection and validation of structural variations in bovine whole-genome sequence data |
| Q28082859 | Detection of Genomic Structural Variants from Next-Generation Sequencing Data |
| Q51907423 | Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. |
| Q28280303 | Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing |
| Q35113414 | Detection of chromosomal breakpoints in patients with developmental delay and speech disorders |
| Q35172112 | Detection of clinically relevant exonic copy-number changes by array CGH. |
| Q33733665 | Detection of copy number variation from array intensity and sequencing read depth using a stepwise Bayesian model |
| Q33965586 | Detection of copy number variations in rice using array-based comparative genomic hybridization |
| Q36611957 | Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders |
| Q33883064 | Detection of genome-wide copy number variations in two chicken lines divergently selected for abdominal fat content |
| Q34371069 | Detection of genomic aberrations in molecularly defined Burkitt's lymphoma by array-based, high resolution, single nucleotide polymorphism analysis |
| Q51506557 | Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease. |
| Q54445819 | Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. |
| Q50313167 | Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. |
| Q33879136 | Detection of recurrent rearrangement breakpoints from copy number data |
| Q58050187 | Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization |
| Q51893693 | Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms. |
| Q33276927 | Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre |
| Q39138945 | Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays |
| Q33833931 | Determination of beta-defensin genomic copy number in different populations: A comparison of three methods |
| Q57537935 | Development and validation of a CGH microarray for clinical cytogenetic diagnosis |
| Q30477782 | Development of animal models for schizophrenia |
| Q36662405 | Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. |
| Q54590942 | Development of two multiplex PCR systems for the analysis of 12 X-chromosomal STR loci in a northwestern Italian population sample. |
| Q39433232 | Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation. |
| Q35069991 | Diagnosis of hydatidiform moles by polymorphic deletion probe fluorescence in situ hybridization |
| Q42776832 | Diagnostic array comparative genomic hybridization: is it ready for prime time? |
| Q34114527 | Diagnostic genome profiling in mental retardation |
| Q36634758 | Diagnostic genome profiling: unbiased whole genome or targeted analysis? |
| Q30987957 | Diagnostic interpretation of array data using public databases and internet sources |
| Q38089241 | Diagnostic significance of allelic imbalance in cancer |
| Q24657119 | Diet and the evolution of human amylase gene copy number variation |
| Q26769649 | Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive |
| Q37388825 | Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. |
| Q35448865 | Directly transmitted unbalanced chromosome abnormalities and euchromatic variants |
| Q34152841 | Discovering tumor suppressor genes through genome-wide copy number analysis |
| Q28087577 | Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms |
| Q80808717 | Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. |
| Q35897714 | Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing |
| Q24811003 | Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies |
| Q36245764 | Discovery of large genomic inversions using long range information |
| Q34556894 | Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome |
| Q34359802 | Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis |
| Q31090606 | DiscoverySpace: an interactive data analysis application |
| Q33471397 | Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening |
| Q24299949 | Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability |
| Q42243551 | Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections |
| Q37097997 | Disruption of contactin 4 in three subjects with autism spectrum disorder |
| Q35005964 | Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility |
| Q41768998 | Distinct disorders affecting the brain share common genetic origins |
| Q46446427 | Distribution and functional impact of DNA copy number variation in the rat. |
| Q33883082 | Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7. |
| Q39403682 | Distribution, functional impact, and origin mechanisms of copy number variation in the barley genome |
| Q42061309 | Diverse mechanisms of somatic structural variations in human cancer genomes |
| Q24600195 | Diversity of human copy number variation and multicopy genes |
| Q33583414 | Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease |
| Q33540206 | Dosage sensitivity shapes the evolution of copy-number varied regions. |
| Q41587750 | Dosage-sensitive genes in evolution and disease |
| Q45870037 | Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication |
| Q34071394 | Drosophila duplication hotspots are associated with late-replicating regions of the genome |
| Q47205411 | Drug knowledge bases and their applications in biomedical informatics research. |
| Q24604488 | Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder |
| Q24814977 | Duplication and positive selection among hominin-specific PRAME genes |
| Q40145557 | Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia |
| Q34439909 | Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level |
| Q37362339 | Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets. |
| Q33742574 | EXCAVATOR: detecting copy number variants from whole-exome sequencing data |
| Q34120176 | Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer risk |
| Q64077382 | Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development |
| Q35959716 | Effects of copy number variable regions on local gene expression in white blood cells of Mexican Americans |
| Q36402087 | Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports |
| Q37406235 | Endometriosis research using capture microdissection techniques: Progress and future applications |
| Q51807840 | Enhanced fixation and preservation of a newly arisen duplicate gene by masking deleterious loss-of-function mutations. |
| Q42640099 | Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly |
| Q34533498 | Enhancer chip: detecting human copy number variations in regulatory elements |
| Q37521524 | Enhancing genome-wide copy number variation identification by high density array CGH using diverse resources of pig breeds. |
| Q21030509 | Ensembl variation resources |
| Q41028053 | Environmental change drives accelerated adaptation through stimulated copy number variation |
| Q55506430 | Epigenetic control of variation and stochasticity in metabolic disease. |
| Q34567418 | Epigenetics and phenotypic variation in mammals. |
| Q40512954 | Estimation of correlations between copy-number variants in non-coding DNA. |
| Q36676842 | Evaluating rare variants in complex disorders using next-generation sequencing |
| Q35834551 | Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus. |
| Q51773510 | Evaluation of Phi29-based whole-genome amplification for microarray-based comparative genomic hybridisation. |
| Q36718956 | Evaluation of genetic variation contributing to differences in gene expression between populations |
| Q30982606 | Evaluation of somatic copy number estimation tools for whole-exome sequencing data. |
| Q41734624 | Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus |
| Q31087752 | Evidence for large inversion polymorphisms in the human genome from HapMap data |
| Q33811283 | Evidence for somatic gene conversion and deletion in bipolar disorder, Crohn's disease, coronary artery disease, hypertension, rheumatoid arthritis, type-1 diabetes, and type-2 diabetes |
| Q34106726 | Evidence for widespread reticulate evolution within human duplicons |
| Q33844453 | Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution |
| Q51890946 | Evolution of human BCR-ABL1 lymphoblastic leukaemia-initiating cells. |
| Q36299901 | Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis |
| Q28768563 | Evolution of the P-type II ATPase gene family in the fungi and presence of structural genomic changes among isolates of Glomus intraradices |
| Q89835404 | Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates |
| Q28655778 | Evolutionary adaptations to dietary changes |
| Q33373501 | Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids |
| Q24658093 | Evolutionary toggling of the MAPT 17q21.31 inversion region |
| Q58650569 | Evolvability and Speed of Evolutionary Algorithms in Light of Recent Developments in Biology |
| Q37754018 | Evolving role of MeCP2 in Rett syndrome and autism |
| Q33942262 | Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome |
| Q35622119 | Expanding the range of ZNF804A variants conferring risk of psychosis |
| Q34991608 | Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2. |
| Q34268291 | Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases |
| Q33378359 | Experimental analysis of oligonucleotide microarray design criteria to detect deletions by comparative genomic hybridization |
| Q28750822 | Explaining human uniqueness: genome interactions with environment, behaviour and culture |
| Q33396458 | Exploratory analysis of the copy number alterations in glioblastoma multiforme |
| Q28263929 | Exploring the role of copy number variants in human adaptation |
| Q41257340 | Extensive copy-number variation of the human olfactory receptor gene family |
| Q34633932 | Extensive copy-number variation of young genes across stickleback populations |
| Q35673740 | Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis. |
| Q53417216 | Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. |
| Q36971035 | Extensive genomic copy number variation in embryonic stem cells |
| Q37342489 | FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity |
| Q36474963 | FDA perspectives on potential microarray-based clinical diagnostics |
| Q45353706 | FOSL1 as a candidate target gene for 11q12 rearrangements in desmoplastic fibroblastoma |
| Q34525341 | Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region |
| Q79608660 | Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region |
| Q92644838 | Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay |
| Q28602790 | Fast Bayesian Inference of Copy Number Variants using Hidden Markov Models with Wavelet Compression |
| Q53687513 | Finding invisible quantitative trait loci with missing data. |
| Q80540719 | Finding the right lenses |
| Q53645235 | Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. |
| Q28681872 | Fine-scale signatures of molecular evolution reconcile models of indel-associated mutation |
| Q22122044 | Fine-scale structural variation of the human genome |
| Q59789565 | First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data |
| Q34312554 | Flowering time control in European winter wheat |
| Q37217009 | Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia |
| Q37220081 | Forty years from markers to genes |
| Q81596609 | Frequency of new copy number variation in humans |
| Q41817349 | Frequent amplification of a chr19q13.41 microRNA polycistron in aggressive primitive neuroectodermal brain tumors |
| Q64261325 | From Human Cytogenetics to Human Chromosomics |
| Q37088194 | From markers to molecular mechanisms: type 1 diabetes in the post-GWAS era. |
| Q33805828 | From microscopes to microarrays: dissecting recurrent chromosomal rearrangements |
| Q33672377 | Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome |
| Q93009104 | Functional and population genetic features of copy number variations in two dairy cattle populations |
| Q33701048 | Functional annotation signatures of disease susceptibility loci improve SNP association analysis |
| Q33368629 | Functional copy-number alterations in cancer |
| Q24289192 | Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response |
| Q34322060 | Functional genetic variants in the 3'-untranslated region of sulfotransferase isoform 1A1 (SULT1A1) and their effect on enzymatic activity |
| Q34745253 | Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis |
| Q40087598 | Further delineation of chromosomal consensus regions in primary mediastinal B-cell lymphomas: an analysis of 37 tumor samples using high-resolution genomic profiling (array-CGH). |
| Q36091184 | Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome |
| Q39626740 | Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate |
| Q63916728 | GPCR NaVa database: natural variants in human G protein-coupled receptors |
| Q41205195 | GREVE: Genomic Recurrent Event ViEwer to assist the identification of patterns across individual cancer samples |
| Q34411505 | GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma. |
| Q37149852 | GSTM1 and GSTM5 Genetic Polymorphisms and Expression in Age-Related Macular Degeneration |
| Q37151970 | Gene amplification is a poor prognostic factor in anaplastic oligodendrogliomas |
| Q35633976 | Gene copy number polymorphisms in an arbuscular mycorrhizal fungal population |
| Q24676993 | Gene copy number variation spanning 60 million years of human and primate evolution |
| Q44003086 | Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens |
| Q44874926 | Gene copy number variations in adaptive evolution: The genomic distribution of gene copy number variations revealed by genetic mapping and their adaptive role in an undomesticated species, white spruce (Picea glauca). |
| Q38078490 | Gene copy-number alterations: a cost-benefit analysis |
| Q35788507 | Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A |
| Q60727769 | Gene expression and single nucleotide polymorphism array analyses of spindle cell lipomas and conventional lipomas with 13q14 deletion |
| Q34014414 | Gene family size conservation is a good indicator of evolutionary rates |
| Q36412509 | Gene hunting in autism spectrum disorder: on the path to precision medicine |
| Q34621882 | Gene rearrangements in hormone receptor negative breast cancers revealed by mate pair sequencing |
| Q33582249 | Gene transposition causing natural variation for growth in Arabidopsis thaliana |
| Q33283252 | Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays |
| Q41986489 | Genes and Small RNA Transcripts Exhibit Dosage-Dependent Expression Pattern in Maize Copy-Number Alterations. |
| Q37761136 | Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics |
| Q38728415 | Genetic Approaches to Understanding Psychiatric Disease. |
| Q91585686 | Genetic Variation, Comparative Genomics, and the Diagnosis of Disease |
| Q37004529 | Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region |
| Q28083879 | Genetic and genomic analyses as a basis for new diagnostic nosologies |
| Q37035434 | Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing |
| Q36053127 | Genetic architecture of colorectal cancer |
| Q38112901 | Genetic architecture of reciprocal CNVs |
| Q37281239 | Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis |
| Q34228348 | Genetic association studies of copy-number variation: should assignment of copy number states precede testing? |
| Q47224735 | Genetic basis of human congenital anomalies of the kidney and urinary tract |
| Q33993060 | Genetic causes of high and low serum HDL-cholesterol |
| Q34173360 | Genetic copy number variants in myocardial infarction patients with hyperlipidemia. |
| Q33745742 | Genetic copy number variants in sib pairs both affected with schizophrenia. |
| Q34539953 | Genetic copy number variation and general cognitive ability |
| Q37100312 | Genetic determinants of phenotypic diversity in humans |
| Q22066282 | Genetic diagnosis by whole exome capture and massively parallel DNA sequencing |
| Q34501764 | Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT) |
| Q43695619 | Genetic epidemiology of type 1 diabetes |
| Q34411660 | Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia |
| Q29614943 | Genetic mapping in human disease |
| Q38226480 | Genetic predisposition to prostate cancer: Update and future perspectives |
| Q37689846 | Genetic profiling for risk reduction in human cardiovascular disease |
| Q38088742 | Genetic risk in autism: new associations and clinical testing |
| Q37156529 | Genetic structures of copy number variants revealed by genotyping single sperm |
| Q34810128 | Genetic susceptibility to tuberculosis associated with cathepsin Z haplotype in a Ugandan household contact study |
| Q33894474 | Genetic tools and algorithms for gene discovery in major congenital anomalies |
| Q36480434 | Genetic variants contribute to gene expression variability in humans |
| Q43257031 | Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations. |
| Q36735686 | Genetic variation and its role in malignancy |
| Q36510952 | Genetic variation in human gene expression |
| Q33722090 | Genetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis. |
| Q34565868 | Genetics and epidemiology of Tourette syndrome |
| Q38997133 | Genetics of Congenital Heart Disease: Past and Present |
| Q39456531 | Genetics of Schizophrenia: Ready to Translate? |
| Q22250993 | Genetics of autism spectrum disorder |
| Q24627520 | Genetics of autistic disorders: review and clinical implications |
| Q33744854 | Genetics of psychiatric disorders methods: molecular approaches |
| Q82568797 | Genetics: copies count |
| Q36749307 | GenoWatch: a disease gene mining browser for association study |
| Q35685874 | Genome Wide Distributions and Functional Characterization of Copy Number Variations between Chinese and Western Pigs |
| Q35088675 | Genome architecture and its roles in human copy number variation. |
| Q37953135 | Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research |
| Q30397677 | Genome assembly comparison identifies structural variants in the human genome. |
| Q30437010 | Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry |
| Q42609452 | Genome complexity in acute lymphoblastic leukemia is revealed by array-based comparative genomic hybridization |
| Q37278619 | Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly |
| Q33687259 | Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome |
| Q37848057 | Genome structural variation discovery and genotyping |
| Q33167158 | Genome-Wide Association Study of Copy Number Variations in Patients with Familial Neurocardiogenic Syncope. |
| Q36263854 | Genome-Wide Association of Copy Number Polymorphisms and Kidney Function |
| Q35690701 | Genome-Wide Copy Number Variations Using SNP Genotyping in a Mixed Breed Swine Population |
| Q46700790 | Genome-Wide Mapping of Structural Variations Reveals a Copy Number Variant That Determines Reproductive Morphology in Cucumber. |
| Q35758604 | Genome-Wide Study of Structural Variants in Bovine Holstein, Montbéliarde and Normande Dairy Breeds. |
| Q34346358 | Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data |
| Q36802303 | Genome-wide DNA copy number analysis in pancreatic cancer using high-density single nucleotide polymorphism arrays |
| Q40206193 | Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals |
| Q33986638 | Genome-wide algorithm for detecting CNV associations with diseases |
| Q35575837 | Genome-wide amplification of proviral sequences reveals new polymorphic HERV-K(HML-2) proviruses in humans and chimpanzees that are absent from genome assemblies |
| Q35131058 | Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination |
| Q39394117 | Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization |
| Q37550193 | Genome-wide analysis of HPV integration in human cancers reveals recurrent, focal genomic instability |
| Q36732124 | Genome-wide analysis of copy number variants in age-related macular degeneration |
| Q35152098 | Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver disease |
| Q28748452 | Genome-wide analysis of copy number variation in type 1 diabetes |
| Q37581573 | Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk |
| Q35109411 | Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients |
| Q34138007 | Genome-wide approaches to schizophrenia |
| Q41506918 | Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients |
| Q37280609 | Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo |
| Q24645076 | Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants |
| Q34322457 | Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients |
| Q30303052 | Genome-wide association study of copy number variations (CNVs) with opioid dependence |
| Q21145274 | Genome-wide associations of gene expression variation in humans |
| Q46456970 | Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling |
| Q28293141 | Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis |
| Q46718406 | Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia |
| Q35888371 | Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population |
| Q31154152 | Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array |
| Q48263242 | Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree |
| Q31132884 | Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor |
| Q34995475 | Genome-wide copy number variations in Oryza sativa L. |
| Q34013806 | Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study |
| Q34039770 | Genome-wide detection of copy number variations among diverse horse breeds by array CGH. |
| Q36805578 | Genome-wide detection of copy number variations using high-density SNP genotyping platforms in Holsteins |
| Q35173717 | Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays |
| Q34130394 | Genome-wide high-resolution aCGH analysis of gestational choriocarcinomas |
| Q60305038 | Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array |
| Q30434301 | Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome |
| Q33856221 | Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases |
| Q41999147 | Genome-wide patterns of genetic variation among silkworms |
| Q38480967 | Genome-wide patterns of large-size presence/absence variants in sorghum |
| Q28750551 | Genome-wide profiling of structural genomic variations in Korean HapMap individuals |
| Q33906177 | Genome-wide scan of copy number variation in late-onset Alzheimer's disease |
| Q51936377 | Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. |
| Q34517994 | Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder |
| Q24594051 | Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy |
| Q82316729 | Genomewide screening of DNA copy number changes in chronic myelogenous leukemia with the use of high-resolution array-based comparative genomic hybridization |
| Q42783360 | Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis |
| Q33242598 | Genomic alterations in ectopic and eutopic endometria of women with endometriosis |
| Q38436572 | Genomic alterations in lobular neoplasia: a microarray comparative genomic hybridization signature for early neoplastic proliferationin the breast |
| Q35694373 | Genomic analysis of circulating cell-free DNA infers breast cancer dormancy |
| Q54353872 | Genomic analysis of clonal eosinophils by CGH arrays reveals new genetic regions involved in chronic eosinophilia. |
| Q21245265 | Genomic and epigenetic evidence for oxytocin receptor deficiency in autism |
| Q38154243 | Genomic approaches for studying craniofacial disorders |
| Q36259308 | Genomic copy number and expression variation within the C57BL/6J inbred mouse strain |
| Q35109761 | Genomic copy number variation in disorders of cognitive development |
| Q37522738 | Genomic copy number variation, human health, and disease |
| Q43053229 | Genomic copy number variations in three Southeast Asian populations |
| Q36787626 | Genomic deletions correlate with underexpression of novel candidate genes at six loci in pediatric pilocytic astrocytoma |
| Q37198442 | Genomic disorders ten years on. |
| Q21145278 | Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes |
| Q24632923 | Genomic drift and copy number variation of chemosensory receptor genes in humans and mice |
| Q36299992 | Genomic drift and copy number variation of sensory receptor genes in humans |
| Q34277089 | Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome |
| Q37482343 | Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. |
| Q37351805 | Genomic microarrays in mental retardation: a practical workflow for diagnostic applications |
| Q80791098 | Genomic profile of chronic myelogenous leukemia: Imbalances associated with disease progression |
| Q45136830 | Genomic profiles and CRTC1-MAML2 fusion distinguish different subtypes of mucoepidermoid carcinoma. |
| Q33840816 | Genomic profiling of advanced-stage oral cancers reveals chromosome 11q alterations as markers of poor clinical outcome |
| Q36863512 | Genomic rearrangements and sporadic disease |
| Q37161534 | Genomic structural variation and schizophrenia |
| Q38248716 | Genomic structural variation in affective, anxiety, and stress-related disorders |
| Q33354553 | Genomic structural variation in psychiatric disorders |
| Q33937230 | Genomics, intellectual disability, and autism |
| Q81112115 | Genomics: the human genome, revisited |
| Q37654549 | Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era. |
| Q42083888 | Genotypic and physiological characterization of Saccharomyces boulardii, the probiotic strain of Saccharomyces cerevisiae |
| Q37115892 | Genotyping platforms for mass-throughput genotyping with SNPs, including human genome-wide scans |
| Q40192242 | Germ-line DNA copy number variation frequencies in a large North American population |
| Q36393187 | Germline DNA copy number variation in familial and early-onset breast cancer |
| Q64903517 | Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors. |
| Q37316998 | Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours. |
| Q38003668 | Germline copy number variations and cancer predisposition. |
| Q47425936 | Germline copy number variations are associated with breast cancer risk and prognosis |
| Q36683904 | Germline copy number variations associated with breast cancer susceptibility in a Japanese population |
| Q24635323 | Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans |
| Q41356138 | Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development. |
| Q36844700 | Getting it right: designing microarray (and not 'microawry') comparative genomic hybridization studies for cancer research |
| Q34074180 | Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping |
| Q33953596 | Global copy number analyses by next generation sequencing provide insight into pig genome variation |
| Q37643001 | Global genomic analysis of intraductal papillary mucinous neoplasms of the pancreas reveals significant molecular differences compared to ductal adenocarcinoma |
| Q33712187 | Global genomic characterization of acute lymphoblastic leukemia |
| Q35535887 | Global spectrum of copy number variations reveals genome organizational plasticity and proposes new migration routes |
| Q24658083 | Global variation in copy number in the human genome |
| Q36101789 | Glutathione S-transferase copy number variation alters lung gene expression |
| Q37692819 | Glycogen synthase kinase 3 beta gene structural variants as possible risk factors of bipolar depression |
| Q60919860 | Guidelines for DNA recombination and repair studies: Cellular assays of DNA repair pathways |
| Q35597451 | Haplotype phasing and inheritance of copy number variants in nuclear families |
| Q33644509 | HaplotypeCN: copy number haplotype inference with Hidden Markov Model and localized haplotype clustering |
| Q50301287 | Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. |
| Q38605688 | Heritable heading time variation in wheat lines with the same number of Ppd-B1 gene copies |
| Q42585906 | Heterogeneity and hypothesis testing in neuropsychiatric illness |
| Q33940047 | Heterozygous deletion at the RLN1 locus in a family with testicular germ cell cancer identified by integrating copy number variation data with phenome and interactome information |
| Q35770210 | Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. |
| Q48881068 | Heterozygous deletion of NR1 subunit of the NMDA receptor alters ethanol-related behaviors and regional expression of NR2 subunits in the brain. |
| Q34329257 | Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities |
| Q27021196 | Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays |
| Q91993896 | Hierarchical discovery of large-scale and focal copy number alterations in low-coverage cancer genomes |
| Q34613877 | Hierarchical molecular tagging to resolve long continuous sequences by massively parallel sequencing |
| Q59780534 | High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders |
| Q39026755 | High Resolution Fiber-Fluorescence In Situ Hybridization |
| Q54538115 | High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia. |
| Q59529320 | High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome |
| Q38500985 | High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. |
| Q28299248 | High mutation rates have driven extensive structural polymorphism among human Y chromosomes |
| Q34964608 | High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians |
| Q24647461 | High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH) |
| Q34667651 | High spontaneous rate of gene duplication in Caenorhabditis elegans |
| Q24631792 | High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene |
| Q59696431 | High-resolution DNA analysis of human embryonic stem cell lines reveals culture-induced copy number changes and loss of heterozygosity |
| Q34416607 | High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results |
| Q33440056 | High-resolution analysis of copy number alterations and associated expression changes in ovarian tumors |
| Q54782824 | High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease. |
| Q53663420 | High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas. |
| Q33383228 | High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution |
| Q41909121 | High-resolution fish on DNA fibers for low-copy repeats genome architecture studies |
| Q37036713 | High-resolution genomic arrays facilitate detection of novel cryptic chromosomal lesions in myelodysplastic syndromes |
| Q34688430 | High-resolution genomic microarrays for X-linked mental retardation. |
| Q51563150 | High-resolution identification of balanced and complex chromosomal rearrangements by 4C technology. |
| Q34106761 | High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs |
| Q33480832 | High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. |
| Q24545276 | High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays |
| Q24530660 | High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization |
| Q33289259 | High-throughput genotyping of a common deletion polymorphism disrupting the TRY6 gene and its association with breast cancer risk |
| Q36661705 | Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity |
| Q28651651 | History and evolution of cytogenetics |
| Q36909175 | History of Our Understanding of the Causes of Congenital Heart Disease |
| Q35856472 | Homo sapiens exhibit a distinct pattern of CNV genes regulation: an important role of miRNAs and SNPs in expression plasticity |
| Q40098447 | Homozygous deletion scanning of the lung cancer genome at a 100-kb resolution |
| Q34215686 | Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment |
| Q35853016 | Host genes important to HIV replication and evolution |
| Q34649980 | Hotspots for copy number variation in chimpanzees and humans |
| Q34557951 | How evolving heterogeneity distributions of resource allocation strategies shape mortality patterns. |
| Q36273640 | How homologous recombination generates a mutable genome |
| Q33856496 | Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene |
| Q34060442 | Human copy number polymorphic genes |
| Q50309527 | Human copy number variation and complex genetic disease. |
| Q46240939 | Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23. |
| Q36185458 | Human gene copy number spectra analysis in congenital heart malformations |
| Q30479569 | Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease. |
| Q36820555 | Human genetic diversity and the epidemiology of parasitic and other transmissible diseases |
| Q29614580 | Human genetic variation and its contribution to complex traits |
| Q21245451 | Human genetics and genomics a decade after the release of the draft sequence of the human genome |
| Q38320756 | Human genetics of diabetic nephropathy |
| Q27000709 | Human genetics of diabetic vascular complications |
| Q22065433 | Human genome sequencing in health and disease |
| Q52841192 | Human genome: patchwork people. |
| Q34658368 | Human genomic deletions mediated by recombination between Alu elements. |
| Q27024633 | Human molecular cytogenetics: From cells to nucleotides |
| Q36245195 | Human subtelomere structure and variation |
| Q28768531 | Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication |
| Q43064650 | Human subtelomeric copy number variations |
| Q42287168 | Human subtelomeric duplicon structure and organization |
| Q36844560 | Hunting human disease genes: lessons from the past, challenges for the future. |
| Q36547873 | Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection |
| Q35409753 | Hydroxyurea induces de novo copy number variants in human cells |
| Q52606397 | IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis. |
| Q28748316 | Identical repeated backbone of the human genome |
| Q34484448 | Identification and functional characterization of copy number variations in diverse chicken breeds |
| Q34306097 | Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort |
| Q33387075 | Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. |
| Q35913213 | Identification of Copy Number Variations in Xiang and Kele Pigs |
| Q35947849 | Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease |
| Q34024006 | Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits |
| Q82495536 | Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array |
| Q33888318 | Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform |
| Q35205646 | Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML. |
| Q36859201 | Identification of a uniquely expanded V1R (ORA) gene family in the Japanese grenadier anchovy (Coilia nasus) |
| Q44336225 | Identification of acquired copy number alterations and uniparental disomies in cytogenetically normal acute myeloid leukemia using high-resolution single-nucleotide polymorphism analysis |
| Q52914967 | Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. |
| Q34153211 | Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients |
| Q86191442 | Identification of chromosomal copy number variations and novel candidate loci in hereditary nonpolyposis colorectal cancer with mismatch repair proficiency |
| Q34444611 | Identification of chromosome arm 9p as the most frequent target of homozygous deletions in lung cancer |
| Q33507516 | Identification of copy number variants defining genomic differences among major human groups |
| Q42633980 | Identification of copy number variation in French dairy and beef breeds using next-generation sequencing |
| Q85364596 | Identification of copy number variations in Qinchuan cattle using BovineHD Genotyping Beadchip array |
| Q36294690 | Identification of disease genes by whole genome CGH arrays |
| Q43223092 | Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays |
| Q35921826 | Identification of functionally active, low frequency copy number variants at 15q21.3 and 12q21.31 associated with prostate cancer risk |
| Q34060031 | Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines |
| Q34918432 | Identification of genome-wide copy number variations among diverse pig breeds using SNP genotyping arrays |
| Q33970542 | Identification of genomic indels and structural variations using split reads |
| Q44305701 | Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR. |
| Q47248498 | Identification of large ancient duplications associated with human gene deserts |
| Q34482059 | Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization |
| Q34561185 | Identification of medium-sized genomic deletions with low coverage, mate-paired restricted tags |
| Q36277199 | Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism |
| Q37067134 | Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation |
| Q40358337 | Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines |
| Q51577633 | Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples. |
| Q46242568 | Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. |
| Q35238058 | Identification of rare germline copy number variations over-represented in five human cancer types |
| Q38415498 | Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization |
| Q30671413 | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder |
| Q37318486 | Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays |
| Q58029039 | Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype |
| Q41606092 | Identify latent chromosomal aberrations relevant to myelodysplastic syndromes |
| Q93521252 | Identifying gene copy number variants associated with colorectal adenoma recurrence |
| Q37205746 | Identifying protein-coding genes in genomic sequences |
| Q37138039 | Identifying the susceptibility genes for coronary artery disease: from hyperbole through doubt to cautious optimism |
| Q36662408 | Idiopathic learning disability and genome imbalance |
| Q33398821 | Immunome knowledge base (IKB): an integrated service for immunome research |
| Q38344833 | Immunomodulation by IVIg and the Role of Fc-Gamma Receptors: Classic Mechanisms of Action after all? |
| Q43930955 | Impact of allele copy number of polymorphisms in FCGR3A and FCGR3B genes on susceptibility to ulcerative colitis |
| Q34559752 | Impact of constitutional copy number variants on biological pathway evolution |
| Q33708200 | Impact of the 1000 genomes project on the next wave of pharmacogenomic discovery |
| Q24652973 | Impact of whole genome amplification on analysis of copy number variants |
| Q35774036 | Improved Detection and Characterization of Copy Number Variations Among Diverse Pig Breeds by Array CGH. |
| Q33326165 | Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes |
| Q36580896 | Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation |
| Q34085237 | Imputation in families using a heuristic phasing approach |
| Q37223721 | In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs) |
| Q40009457 | In situ genetic analysis of cellular chimerism |
| Q81456867 | In vivo differentiation and genomic evolution in adult male germ cell tumors |
| Q29614510 | Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders |
| Q38829647 | Increased Dosage of High-Affinity Kainate Receptor Gene grik4 Alters Synaptic Transmission and Reproduces Autism Spectrum Disorders Features. |
| Q30468811 | Increased de novo copy number variants in the offspring of older males |
| Q37620888 | Increased gene dosage of Ink4a/Arf results in cancer resistance and normal aging. |
| Q33741872 | Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. |
| Q36744661 | Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. |
| Q34182841 | Inferring haplotypes of copy number variations from high-throughput data with uncertainty |
| Q93050622 | Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases |
| Q38246169 | Insights into structural variations and genome rearrangements in prokaryotic genomes |
| Q33617748 | Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing |
| Q57336667 | Integración del medio ambiente y la enfermedad en el análisis «ómico» |
| Q29614584 | Integrated detection and population-genetic analysis of SNPs and copy number variation |
| Q36985614 | Integrated small copy number variations and epigenome maps of disorders of sex development |
| Q41890841 | Integrated study of copy number states and genotype calls using high-density SNP arrays |
| Q36152246 | Integrating the multiple dimensions of genomic and epigenomic landscapes of cancer |
| Q38299935 | Integrative analysis reveals 53BP1 copy loss and decreased expression in a subset of human diffuse large B-cell lymphomas |
| Q50527084 | Integrative genomic profiling reveals conserved genetic mechanisms for tumorigenesis in common entities of non-Hodgkin's lymphoma. |
| Q36241932 | International Union of Basic and Clinical Pharmacology. XCIX. Angiotensin Receptors: Interpreters of Pathophysiological Angiotensinergic Stimuli [corrected]. |
| Q38614473 | Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment |
| Q34658413 | Intra- and interindividual epigenetic variation in human germ cells |
| Q35609038 | Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect |
| Q91321682 | Introduction of genomics into prenatal diagnostics |
| Q37662023 | InvFEST, a database integrating information of polymorphic inversions in the human genome |
| Q33762256 | Inversion variants in the human genome: role in disease and genome architecture |
| Q85107061 | Investigation of copy-number variations of C8orf4 in hematological malignancies |
| Q52654975 | Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. |
| Q35132379 | Investigation of modifier genes within copy number variations in Rett syndrome |
| Q37808466 | Ionising radiation and genetic risks. XVI. A genome-based framework for risk estimation in the light of recent advances in genome research |
| Q42174964 | Joint estimation of copy number variation and reference intensities on multiple DNA arrays using GADA. |
| Q35610161 | Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23 |
| Q36865910 | KGVDB: a population-based genomic map of CNVs tagged by SNPs in Koreans |
| Q33951417 | L-histidine decarboxylase and Tourette's syndrome |
| Q28654758 | LINE-1 elements in structural variation and disease |
| Q38120386 | Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. |
| Q33639830 | Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome |
| Q34459693 | Large multiallelic copy number variations in humans |
| Q33245898 | Large scale copy number variation (CNV) at 14q12 is associated with the presence of genomic abnormalities in neoplasia |
| Q33287506 | Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis |
| Q41940739 | Late breaking chromosomes |
| Q36515759 | Lgals6, a 2-million-year-old gene in mice: a case of positive Darwinian selection and presence/absence polymorphism |
| Q51929747 | Linkage disequilibrium and haplotype homozygosity in population samples genotyped at a high marker density. |
| Q30477871 | Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome |
| Q37166689 | Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes |
| Q33656418 | Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity |
| Q35847854 | Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes |
| Q48895739 | Localization of a putative low-penetrance ependymoma susceptibility locus to 22q11 using a chromosome 22 tiling-path genomic microarray. |
| Q80218672 | Long contiguous stretches of homozygosity in the human genome |
| Q35069421 | Long range linkage disequilibrium across the human genome |
| Q40966399 | Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations |
| Q34130768 | Long-range autocorrelations of CpG islands in the human genome |
| Q33493610 | Long-range regulation is a major driving force in maintaining genome integrity |
| Q34408171 | Loss of heterozygosity and SOSTDC1 in adult and pediatric renal tumors |
| Q34105097 | Loss, mutation and deregulation of L3MBTL4 in breast cancers |
| Q37044340 | Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements. |
| Q33881264 | Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications |
| Q37661892 | Lynx: a database and knowledge extraction engine for integrative medicine |
| Q34193491 | MBASED: allele-specific expression detection in cancer tissues and cell lines |
| Q37292968 | MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels |
| Q37144406 | MLPA and MAPH: sensitive detection of deletions and duplications |
| Q80758795 | MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly |
| Q41835932 | MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes. |
| Q43214379 | MSB: a mean-shift-based approach for the analysis of structural variation in the genome |
| Q36863509 | Major changes in our DNA lead to major changes in our thinking |
| Q33329722 | Major copy proportion analysis of tumor samples using SNP arrays |
| Q34359146 | Major histocompatibility complex genomics and human disease |
| Q34700227 | Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. |
| Q38309273 | Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants |
| Q40883104 | Mapping DNA quantity into electrophoretic mobility through quantum dot nanotethers for high-resolution genetic and epigenetic analysis |
| Q39915473 | Mapping DNA structural variation in dogs |
| Q22122215 | Mapping and sequencing of structural variation from eight human genomes |
| Q27315912 | Mapping autism risk loci using genetic linkage and chromosomal rearrangements |
| Q24615307 | Mapping copy number variation by population-scale genome sequencing |
| Q34235637 | Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. |
| Q51939292 | Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. |
| Q33425649 | Markov Models for inferring copy number variations from genotype data on Illumina platforms |
| Q30455191 | Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting |
| Q33358153 | Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device |
| Q33937543 | Measurement of absolute copy number variation reveals association with essential hypertension |
| Q33850635 | Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain |
| Q22122003 | Mechanisms of change in gene copy number |
| Q33630659 | Mechanisms of copy number variation and hybrid gene formation in the KIR immune gene complex |
| Q45771980 | Mechanisms of formation of structural variation in a fully sequenced human genome |
| Q33960440 | Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines |
| Q34584307 | Medical applications of array CGH and the transformation of clinical cytogenetics |
| Q46272102 | Megabase deletions of gene deserts result in viable mice |
| Q60203690 | Mesenchymal stem cells from multiple myeloma patients display distinct genomic profile as compared with those from normal donors |
| Q36863499 | Methods and strategies for analyzing copy number variation using DNA microarrays |
| Q37035269 | Methods for routine diagnosis of genomic rearrangements: multiplex PCR-based methods and future perspectives. |
| Q39171852 | MiR-23a in amplified 19p13.13 loci targets metallothionein 2A and promotes growth in gastric cancer cells |
| Q34944632 | Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA. |
| Q59697660 | Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia |
| Q26859692 | Microarray resources for genetic and genomic studies in chicken: a review |
| Q82162970 | Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling? |
| Q60345350 | Microarray-based genomic profiling reveals novel genomic aberrations in follicular lymphoma which associate with patient survival and gene expression status |
| Q37419604 | Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. |
| Q36072998 | Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. |
| Q36638675 | Microdeletions are a general feature of adult and adolescent acute lymphoblastic leukemia: Unexpected similarities with pediatric disease |
| Q34629238 | Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain |
| Q36986725 | Modeling genetic inheritance of copy number variations. |
| Q38214995 | Modelling the genetic contribution to mental illness: a timely end for the psychiatric rodent? |
| Q47140966 | Modulating Neuroinflammation to Treat Neuropsychiatric Disorders |
| Q55119211 | Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. |
| Q22066008 | Molecular Evolution of a Primate-Specific microRNA Family |
| Q33671442 | Molecular analysis of ex-vivo CD133+ GBM cells revealed a common invasive and angiogenic profile but different proliferative signatures among high grade gliomas. |
| Q34060426 | Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting |
| Q43172125 | Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region |
| Q30479181 | Molecular characterization of TMPRSS2-ERG gene fusion in the NCI-H660 prostate cancer cell line: a new perspective for an old model. |
| Q37385403 | Molecular characterization of group A Streptococcus maltodextrin catabolism and its role in pharyngitis |
| Q54352254 | Molecular characterization of large deletions in the von Hippel-Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangements. |
| Q34034713 | Molecular characterization of the region 7q22.1 in splenic marginal zone lymphomas |
| Q54482516 | Molecular copy-number counting: potential of single-molecule diagnostics. |
| Q36874341 | Molecular cytogenetics: making it safe for human embryonic stem cells to enter the clinic |
| Q33211935 | Molecular distinction between true centric fission and pericentric duplication-fission. |
| Q34472245 | Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes |
| Q34007908 | Molecular genetic analysis of Chd3 and polytene chromosome region 76B-D in Drosophila melanogaster |
| Q37863012 | Molecular genetics of Psoriasis (Principles, technology, gene location, genetic polymorphism and gene expression). |
| Q37419584 | Molecular genetics of autism |
| Q36662410 | Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. |
| Q37856457 | Molecular population genomics: a short history |
| Q40276097 | Molecular profiling reveals myeloid leukemia cell lines to be faithful model systems characterized by distinct genomic aberrations |
| Q37117004 | Molecular spectrum of spontaneous de novo mutations in male and female germline cells of Drosophila melanogaster |
| Q35015379 | Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes |
| Q33601068 | MouseIndelDB: a database integrating genomic indel polymorphisms that distinguish mouse strains |
| Q36631976 | Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation |
| Q91446440 | Multicolor Fluorescence In Situ Hybridization (FISH) Approaches for Simultaneous Analysis of the Entire Human Genome |
| Q36930083 | Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype |
| Q29013643 | Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism |
| Q36171871 | Multiple sclerosis genetics: leaving no stone unturned |
| Q81319536 | Multiplex PCR-based real-time invader assay (mPCR-RETINA): a novel SNP-based method for detecting allelic asymmetries within copy number variation regions |
| Q34214613 | Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease |
| Q35721082 | Multiply to conquer: Copy number variations at Ppd-B1 and Vrn-A1 facilitate global adaptation in wheat |
| Q33694024 | Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria |
| Q36863503 | Mutational and selective effects on copy-number variants in the human genome |
| Q24294551 | Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems |
| Q34241216 | Mutations in EZH2 cause Weaver syndrome |
| Q36591365 | Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias |
| Q34578265 | Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies. |
| Q37208704 | NDE1 and NDEL1: twin neurodevelopmental proteins with similar 'nature' but different 'nurture'. |
| Q34476716 | NRE: a tool for exploring neutral loci in the human genome |
| Q47637219 | Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair |
| Q54040009 | Narrowing critical regions and determining penetrance for selected 18q- phenotypes. |
| Q34175328 | Natural genetic variation caused by small insertions and deletions in the human genome |
| Q35237190 | Nature and nurture in neuropsychiatric genetics: where do we stand? |
| Q59334977 | Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium |
| Q92026869 | Neuroimaging genetics studies of specific reading disability and developmental language disorder: A review |
| Q34510648 | New cytogenetically visible copy number variant in region 8q21.2. |
| Q30468290 | New frontiers in animal research of psychiatric illness |
| Q39611384 | New quality measure for SNP array based CNV detection |
| Q24654340 | Newly identified genetic risk variants for celiac disease related to the immune response |
| Q31133823 | Next Generation Sequencing Data and Proteogenomics. |
| Q37651413 | Next generation DNA sequencing and the future of genomic medicine |
| Q38804924 | Next generation sequencing: implications in personalized medicine and pharmacogenomics |
| Q39027992 | Next-generation sequencing reveals novel rare fusion events with functional implication in prostate cancer |
| Q34576211 | No effect of genome-wide copy number variation on measures of intelligence in a New Zealand birth cohort. |
| Q39660042 | No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity |
| Q57801296 | Noise cancellation using total variation for copy number variation detection |
| Q28748932 | Non-invasive prenatal detection of trisomy 21 using tandem single nucleotide polymorphisms |
| Q35821676 | Nonadaptive explanations for signatures of partial selective sweeps in Drosophila |
| Q42705595 | Novel Somatic Copy Number Alteration Identified for Cervical Cancer in the Mexican American Population |
| Q84136248 | Novel clinical finding in MECP2 duplication syndrome |
| Q35187237 | Novel copy number variants in children with autism and additional developmental anomalies |
| Q55119415 | Novel copy-number variants in a population-based investigation of classic heterotaxy. |
| Q40286845 | Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin |
| Q33994167 | Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients |
| Q34909909 | Novel xenograft and cell line derived from an invasive intraductal papillary mucinous neoplasm of the pancreas give new insights into molecular mechanisms |
| Q24633716 | Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library |
| Q42395986 | Numbers of genes in the NBS and RLK families vary by more than four-fold within a plant species and are regulated by multiple factors |
| Q37202517 | OKCAM: an ontology-based, human-centered knowledgebase for cell adhesion molecules |
| Q39350684 | OSAnalyzer: A Bioinformatics Tool for the Analysis of Gene Polymorphisms Enriched with Clinical Outcomes |
| Q34043497 | Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes |
| Q35106426 | Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family |
| Q36943647 | Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies |
| Q35015843 | Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation |
| Q50306187 | Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status. |
| Q45288594 | On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test |
| Q36924050 | On the frequency of copy number variants |
| Q33239373 | On the mechanism of gene amplification induced under stress in Escherichia coli |
| Q34700176 | On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing. |
| Q34493618 | On the spot: very local chromosomal rearrangements |
| Q36382344 | On the structural plasticity of the human genome: chromosomal inversions revisited |
| Q33844724 | Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia |
| Q34322090 | OpenHelix: bioinformatics education outside of a different box |
| Q39687576 | Optimization of Signal Decomposition Matched Filtering (SDMF) for Improved Detection of Copy-Number Variations |
| Q40844290 | Optimizing copy number variation analysis using genome-wide short sequence oligonucleotide arrays |
| Q26853067 | Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder |
| Q28730507 | Origins and functional impact of copy number variation in the human genome |
| Q53139926 | Outfoxed by RBFOX1-a caution about ascertainment bias. |
| Q48396251 | Overlay analysis of the oligonucleotide array gene expression profiles and copy number abnormalities as determined by array comparative genomic hybridization in medulloblastomas |
| Q33448573 | Overlay tool for aCGHViewer: an analysis module built for aCGHViewer used to perform comparisons of data derived from different microarray platforms. |
| Q35763328 | Overview of the development of personalized genomic medicine and surgery |
| Q40888717 | Oxytocin receptor gene sequences in owl monkeys and other primates show remarkable interspecific regulatory and protein coding variation |
| Q55618045 | PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. |
| Q28752684 | PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data |
| Q30415792 | PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations |
| Q24653260 | Paired-end mapping reveals extensive structural variation in the human genome |
| Q45988269 | Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors. |
| Q28743276 | PanSNPdb: the Pan-Asian SNP genotyping database |
| Q38071994 | ParseCNV integrative copy number variation association software with quality tracking. |
| Q33752163 | Pash 3.0: A versatile software package for read mapping and integrative analysis of genomic and epigenomic variation using massively parallel DNA sequencing |
| Q37445764 | Pathogenesis of autism: a patchwork of genetic causes |
| Q48370906 | Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes |
| Q58797497 | Patterns and mechanisms of structural variations in human cancer |
| Q37297685 | Patterns of genic intolerance of rare copy number variation in 59,898 human exomes |
| Q24658076 | Pax6 3' deletion results in aniridia, autism and mental retardation |
| Q39005643 | Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes. |
| Q35864949 | Penalized weighted low-rank approximation for robust recovery of recurrent copy number variations |
| Q29614933 | PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data |
| Q34771467 | Performance assessment of copy number microarray platforms using a spike-in experiment. |
| Q37611184 | Performance of MLPA as a screening method for aneuploidy in uncultured amniocytes |
| Q33498358 | Personalized copy number and segmental duplication maps using next-generation sequencing. |
| Q60045435 | Perspective: DNA Copy Number Variations in Cardiovascular Diseases |
| Q34212370 | Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study |
| Q56773941 | Pharmacogenetics and geographical ancestry: implications for drug development and global health |
| Q35073509 | Pharmacogenomic association study on the role of drug metabolizing, drug transporters and drug target gene polymorphisms in drug-resistant epilepsy in a north Indian population |
| Q37257862 | Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus |
| Q27322785 | Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models |
| Q34705135 | Phenotypic manifestations of copy number variation in chromosome 16p13.11. |
| Q36718902 | Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles |
| Q29617402 | Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads |
| Q57406247 | Pitfalls in the use of DGV for CNV interpretation |
| Q31108463 | PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data |
| Q38937920 | Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies |
| Q80985272 | Polymorphic landscape of the human genome |
| Q52841117 | Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees. |
| Q46308032 | Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples |
| Q37156109 | Population analysis of large copy number variants and hotspots of human genetic disease |
| Q30844540 | Population clustering based on copy number variations detected from next generation sequencing data |
| Q35578546 | Population differences in microRNA expression and biological implications |
| Q21563457 | Population stratification of a common APOBEC gene deletion polymorphism |
| Q38951086 | Population structure in copy number variation and SNPs in the CCL4L chemokine gene |
| Q34687598 | Population-genetic properties of differentiated human copy-number polymorphisms |
| Q29031692 | Positive selection at the protein network periphery: Evaluation in terms of structural constraints and cellular context |
| Q33520624 | Power to detect selective allelic amplification in genome-wide scans of tumor data |
| Q35679756 | Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics |
| Q64068281 | Prediction and identification of recurrent genomic rearrangements that generate chimeric chromosomes in |
| Q48682753 | Prediction of peripheral neuropathy in multiple myeloma patients receiving bortezomib and thalidomide: a genetic study based on a single nucleotide polymorphism array. |
| Q91698085 | Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders |
| Q99582387 | Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report |
| Q37998942 | Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. |
| Q51851557 | Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities. |
| Q36927206 | Prenatal detection of unbalanced chromosomal rearrangements by array CGH. |
| Q49973199 | Prenatal diagnosis by chromosomal microarray analysis. |
| Q57537925 | Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization |
| Q35843654 | Prenatal diagnosis of genomic disorders and chromosome abnormalities using array-based comparative genomic hybridization. |
| Q47635812 | Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability. |
| Q37406783 | Primary orbital precursor T-cell lymphoblastic lymphoma: Report of a unique case |
| Q34369514 | Primate genome architecture influences structural variation mechanisms and functional consequences |
| Q34537505 | Primate segmental duplications: crucibles of evolution, diversity and disease |
| Q34794203 | Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database |
| Q31001497 | Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data |
| Q30850994 | Prioritizing genes for X-linked diseases using population exome data |
| Q33387970 | ProSeeK: a web server for MLPA probe design |
| Q33340181 | Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA). |
| Q46455433 | Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array |
| Q34997720 | Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies |
| Q37532036 | Progress in the detection of human genome structural variations |
| Q50303136 | Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization. |
| Q43172945 | Pure interstitial dup(6)(q22.31q22.31) - a case report |
| Q33507164 | Quadruplex MAPH: improvement of throughput in high-resolution copy number screening. |
| Q36421804 | Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia |
| Q36407760 | Quantitative Measurement of PARD3 Copy Number Variations in Human Neural Tube Defects |
| Q33394240 | Quantitative analysis of single nucleotide polymorphisms within copy number variation |
| Q33634615 | R-Gada: a fast and flexible pipeline for copy number analysis in association studies |
| Q34973122 | RECONSTRUCTING DNA COPY NUMBER BY PENALIZED ESTIMATION AND IMPUTATION. |
| Q30951240 | RExPrimer: an integrated primer designing tool increases PCR effectiveness by avoiding 3' SNP-in-primer and mis-priming from structural variation |
| Q48552967 | RSVSim: an R/Bioconductor package for the simulation of structural variations. |
| Q24672578 | Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). |
| Q83163623 | Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays |
| Q36770065 | Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population |
| Q50920611 | Rare autosomal copy number variations in early-onset familial Alzheimer's disease. |
| Q33813542 | Rare copy number deletions predict individual variation in intelligence |
| Q34411873 | Rare copy number variants contribute to congenital left-sided heart disease |
| Q49647833 | Rare copy number variants identified in prune belly syndrome. |
| Q52895615 | Rare copy number variants implicated in posterior urethral valves. |
| Q92642851 | Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations |
| Q35764564 | Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism |
| Q34582831 | Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning |
| Q24300898 | Rare deletions at the neurexin 3 locus in autism spectrum disorder |
| Q45796187 | Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures |
| Q51102391 | Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition. |
| Q28274064 | Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia |
| Q35956872 | Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders |
| Q42369215 | Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritis |
| Q37971383 | Read count approach for DNA copy number variants detection |
| Q33815928 | ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads |
| Q39331856 | ReadXplorer 2-detailed read mapping analysis and visualization from one single source. |
| Q36313208 | Recent advances in array comparative genomic hybridization technologies and their applications in human genetics |
| Q34021104 | Recent developments in genomewide association scans: a workshop summary and review |
| Q33830518 | Recent insights into the molecular genetics of dementia |
| Q34040436 | Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. |
| Q51927723 | Reciprocal translocations: a trap for cytogenetists? |
| Q34381772 | Reconstructing DNA copy number by joint segmentation of multiple sequences |
| Q35752622 | Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities |
| Q81510124 | Recurrent DNA copy number variation in the laboratory mouse |
| Q35699743 | Recurrent DNA inversion rearrangements in the human genome |
| Q35044006 | Recurrent chromosome 22 deletions in osteoblastoma affect inhibitors of the Wnt/beta-catenin signaling pathway |
| Q34328409 | Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex |
| Q54288575 | Recurrent inactivating mutations of ARID2 in non-small cell lung carcinoma. |
| Q24655755 | Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes |
| Q53426251 | Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders. |
| Q37135729 | Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. |
| Q28756633 | Reduced purifying selection prevails over positive selection in human copy number variant evolution |
| Q35031003 | Reduced transcript expression of genes affected by inherited and de novo CNVs in autism |
| Q34114261 | Reducing system noise in copy number data using principal components of self-self hybridizations |
| Q34298242 | Reference-unbiased copy number variant analysis using CGH microarrays |
| Q37812003 | Regions of homozygosity and their impact on complex diseases and traits |
| Q34330648 | Regulation of major histocompatibility complex class II gene expression, genetic variation and disease |
| Q36140248 | Regulatory element copy number differences shape primate expression profiles. |
| Q34001429 | Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions |
| Q47910797 | Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population |
| Q29614883 | Relative impact of nucleotide and copy number variation on gene expression phenotypes |
| Q37163847 | Repair-mediated duplication by capture of proximal chromosomal DNA has shaped vertebrate genome evolution |
| Q37988151 | Replication stress and mechanisms of CNV formation |
| Q37156034 | Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants |
| Q40095012 | Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome |
| Q35063579 | Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients |
| Q36282730 | Retained heterodisomy is associated with high gene expression in hyperhaploid inflammatory leiomyosarcoma. |
| Q34188749 | Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior |
| Q21183991 | Retrotransposition of gene transcripts leads to structural variation in mammalian genomes |
| Q35631339 | Ribosomal protein gene deletions in Diamond-Blackfan anemia. |
| Q51504406 | Ring chromosomes, breakpoint clusters, and neocentromeres in sarcomas. |
| Q38058638 | Risk counselling for family members in bipolar disorder and schizophrenia |
| Q40914512 | Robust and exact structural variation detection with paired-end and soft-clipped alignments: SoftSV compared with eight algorithms |
| Q47706855 | Runs of homozygosity, copy number variation, and risk for depression and suicidal behavior in an Arab Bedouin kindred |
| Q33779644 | SCAN: SNP and copy number annotation |
| Q37298164 | SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant |
| Q24313471 | SHANK1 Deletions in Males with Autism Spectrum Disorder |
| Q36123225 | SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct |
| Q36022873 | SMASH, a fragmentation and sequencing method for genomic copy number analysis |
| Q28742191 | SNP and gene networks construction and analysis from classification of copy number variations data |
| Q33306707 | SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD. |
| Q37114387 | SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation |
| Q33500365 | SNP@Evolution: a hierarchical database of positive selection on the human genome |
| Q37109851 | SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms. |
| Q36088365 | SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update). |
| Q28085444 | SNPs Array Karyotyping in Non-Hodgkin Lymphoma |
| Q34081581 | SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis |
| Q39510258 | SRinversion: a tool for detecting short inversions by splitting and re-aligning poorly mapped and unmapped sequencing reads |
| Q34188360 | SVA: software for annotating and visualizing sequenced human genomes |
| Q34317674 | SVM²: an improved paired-end-based tool for the detection of small genomic structural variations using high-throughput single-genome resequencing data |
| Q34333314 | Safety paradigm: genetic evaluation of therapeutic grade human embryonic stem cells |
| Q36586603 | Scanning the human genome at kilobase resolution |
| Q37559492 | Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future |
| Q48712677 | Segmental copy number variation shapes tissue transcriptomes. |
| Q28253048 | Segmental duplications and copy-number variation in the human genome |
| Q34206566 | Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin beta gene cluster. |
| Q37272341 | Segmental duplications mediate novel, clinically relevant chromosome rearrangements |
| Q37419178 | Selective sweep on human amylase genes postdates the split with Neanderthals |
| Q27335199 | Sensitive Tumorigenic Potential Evaluation of Adult Human Multipotent Neural Cells Immortalized by hTERT Gene Transduction |
| Q42566509 | Sensitive and accurate detection of copy number variants using read depth of coverage |
| Q34222378 | Sensorineural hearing loss in people with deletions of 18q: hearing in 18q-. |
| Q42590730 | Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart. |
| Q35108477 | Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry |
| Q92203257 | Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine |
| Q50059988 | Sequencing and analysis of the whole genome of Indian Gujarati male. |
| Q27860568 | Sequencing technologies - the next generation |
| Q44620603 | SgD-CNV, a database for common and rare copy number variants in three Asian populations |
| Q74441594 | Sharp focus on the variable genome |
| Q51916075 | Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation. |
| Q36430782 | Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies |
| Q37442983 | Simultaneous transcription of duplicated var2csa gene copies in individual Plasmodium falciparum parasites |
| Q35031305 | Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity |
| Q37273694 | Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances |
| Q34543075 | Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph |
| Q30434015 | Single-molecule sequencing of an individual human genome |
| Q88240318 | Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human |
| Q33366520 | Small deletion variants have stable breakpoints commonly associated with alu elements. |
| Q34139307 | Small insertions and deletions (INDELs) in human genomes |
| Q24654938 | Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH |
| Q41773363 | Somatic activation of AKT3 causes hemispheric developmental brain malformations |
| Q37501275 | Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls |
| Q34766184 | Sox2 gene amplification significantly impacts overall survival in serous epithelial ovarian cancer |
| Q46110821 | Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity |
| Q37601955 | Statistical issues in the analysis of DNA Copy Number Variations |
| Q56889676 | Strategies for genotype generation |
| Q44128404 | Strategies for genotyping |
| Q36474973 | Strategies for the detection of copy number and other structural variants in the human genome |
| Q24633543 | Strong association of de novo copy number mutations with autism |
| Q28742270 | Structural alterations from multiple displacement amplification of a human genome revealed by mate-pair sequencing |
| Q34576851 | Structural divergence between the human and chimpanzee genomes |
| Q30438901 | Structural genomic variation in ischemic stroke |
| Q44354053 | Structural variants, much ado about nothing? |
| Q22122017 | Structural variation in the human genome |
| Q34688448 | Structural variation in the human genome: the impact of copy number variants on clinical diagnosis. |
| Q91292211 | Structural variation in the sequencing era |
| Q27691419 | Structural variation mutagenesis of the human genome: Impact on disease and evolution |
| Q24656970 | Structural variation of chromosomes in autism spectrum disorder |
| Q51434668 | Structural variation: the genome's hidden architecture. |
| Q36935421 | Studying copy number variations using a nanofluidic platform |
| Q38286640 | Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis |
| Q22337162 | Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes |
| Q85640301 | Submicroscopic genomic imbalances in Burkitt lymphomas/leukemias: association with age and further evidence that 8q24/MYC translocations are not sufficient for leukemogenesis |
| Q36930079 | Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities |
| Q51903797 | Subtelomeric imbalances in phenotypically normal individuals. |
| Q34026081 | Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy |
| Q36294697 | Susceptibility genes for complex epilepsy |
| Q47444920 | Synaptic Neurexin Complexes: A Molecular Code for the Logic of Neural Circuits |
| Q48513662 | Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. |
| Q33463258 | Systematic identification of balanced transposition polymorphisms in Saccharomyces cerevisiae |
| Q35958674 | Systematic identification of phenotypically enriched loci using a patient network of genomic disorders |
| Q33770229 | Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome |
| Q33750052 | Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity |
| Q35840499 | Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome |
| Q38058727 | Systems genetics in "-omics" era: current and future development |
| Q28260191 | TFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individuals |
| Q58029326 | THE APPLICATION OF MICROARRAY BASED COMPARATIVE GENOMIC HYBRIDIZATION IN PRENATAL DIAGNOSIS |
| Q34628870 | TIARA genome database: update 2013. |
| Q24613521 | TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology |
| Q43711843 | TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis. |
| Q35095189 | TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes. |
| Q41848828 | Tandem repeats modify the structure of human genes hosted in segmental duplications |
| Q24653591 | Targeted chromosomal deletions in human cells using zinc finger nucleases |
| Q35791576 | Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases |
| Q33834954 | Targeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENs |
| Q37251187 | Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents |
| Q33883042 | Template proteogenomics: sequencing whole proteins using an imperfect database |
| Q38310024 | Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments |
| Q55284056 | The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region. |
| Q33556713 | The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations |
| Q53542222 | The BAC resource: tools for array CGH and FISH. |
| Q35704490 | The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans |
| Q21735919 | The DNA sequence and biological annotation of human chromosome |
| Q37661947 | The Database of Genomic Variants: a curated collection of structural variation in the human genome. |
| Q28685216 | The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation |
| Q37374223 | The HLA genomic loci map: expression, interaction, diversity and disease |
| Q36528253 | The HapMap Resource is Providing New Insights into Ourselves and its Application to Pharmacogenomics. |
| Q92878030 | The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders |
| Q34660326 | The Inheritance of Tourette Disorder: A review |
| Q36321047 | The Molecular Karyotype of 25 Clinical-Grade Human Embryonic Stem Cell Lines |
| Q34092630 | The Psychosis Susceptibility Gene ZNF804A: Associations, Functions, and Phenotypes |
| Q39744437 | The Roche Cancer Genome Database (RCGDB). |
| Q33903409 | The Roche Cancer Genome Database 2.0. |
| Q29614575 | The UCSC Genome Browser Database: 2008 update |
| Q24538714 | The UCSC Genome Browser Database: update 2006 |
| Q24656112 | The UCSC Genome Browser Database: update 2009 |
| Q29614173 | The UCSC Genome Browser database: update 2010 |
| Q24625811 | The UCSC Genome Browser database: update 2011 |
| Q28273417 | The UCSC genome browser and associated tools |
| Q33911433 | The application of gene co-expression network reconstruction based on CNVs and gene expression microarray data in breast cancer |
| Q34222604 | The architecture of long-range haplotypes shared within and across populations |
| Q34160906 | The association between the copy-number variations of ZMAT4 and hematological malignancy |
| Q35685546 | The association of copy number variation and percent mammographic density |
| Q33691366 | The characterization of twenty sequenced human genomes |
| Q37704614 | The clinical context of copy number variation in the human genome |
| Q50306612 | The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. |
| Q35810772 | The coalescent with selection on copy number variants |
| Q51954143 | The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. |
| Q46393939 | The complex genomic profile of ETV6-RUNX1 positive acute lymphoblastic leukemia highlights a recurrent deletion of TBL1XR1. |
| Q37432642 | The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease |
| Q34782604 | The current excitement about copy-number variation: how it relates to gene duplications and protein families |
| Q49344639 | The development and growth of EJHG 1995-2017. |
| Q21972851 | The diploid genome sequence of an Asian individual |
| Q21090194 | The diploid genome sequence of an individual human |
| Q37756529 | The discovery of human genetic variations and their use as disease markers: past, present and future. |
| Q28508280 | The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors |
| Q34713402 | The dynamics of cancer chromosomes and genomes |
| Q38179246 | The emerging molecular architecture of schizophrenia, polygenic risk scores and the clinical implications for GxE research |
| Q37323325 | The evolution of animal chemosensory receptor gene repertoires: roles of chance and necessity |
| Q33965283 | The evolution of human segmental duplications and the core duplicon hypothesis |
| Q36943629 | The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization |
| Q37141839 | The fine-scale and complex architecture of human copy-number variation |
| Q24647197 | The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group |
| Q33847296 | The functional impact of structural variation in humans |
| Q33945745 | The future of prenatal cytogenetic diagnostics: a personal perspective |
| Q37259226 | The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies |
| Q33965270 | The genetic variability and commonality of neurodevelopmental disease |
| Q37801080 | The genetics of child psychiatric disorders: focus on autism and Tourette syndrome |
| Q35765523 | The genetics of microdeletion and microduplication syndromes: an update. |
| Q30429472 | The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population |
| Q53492547 | The genome: you gain some, you lose some. |
| Q37142029 | The genomic architecture of segmental duplications and associated copy number variants in dogs |
| Q24596895 | The human Major Histocompatibility Complex as a paradigm in genomics research |
| Q28728363 | The human transcriptome: an unfinished story |
| Q46901571 | The hyper-IgE syndrome is not caused by a microdeletion syndrome |
| Q38218372 | The impact of chromosomal rearrangements on regulation of gene expression |
| Q37309209 | The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells |
| Q33411222 | The impact of genomic neighborhood on the evolution of human and chimpanzee transcriptome |
| Q35996805 | The impact of genomics on pediatric research and medicine |
| Q37682292 | The impact of human copy number variation on a new era of genetic testing. |
| Q27027474 | The impact of human copy number variation on gene expression |
| Q33894532 | The importance of copy number variation in congenital heart disease |
| Q53131950 | The introduction of arrays in prenatal diagnosis: a special challenge. |
| Q34026930 | The landscape of inherited and de novo copy number variants in a Plasmodium falciparum genetic cross |
| Q36659339 | The molecular pathogenesis of head and neck squamous cell carcinoma |
| Q55260441 | The neuroendocrine phenotype, genomic profile and therapeutic sensitivity of GEPNET cell lines. |
| Q42591669 | The neutral coalescent process for recent gene duplications and copy-number variants. |
| Q36250557 | The new cytogenetics: blurring the boundaries with molecular biology |
| Q36647794 | The next generation of microarray research: applications in evolutionary and ecological genomics. |
| Q33760962 | The origins and impact of primate segmental duplications |
| Q28752151 | The population genetics of structural variation |
| Q37609740 | The prognostic role of intragenic copy number breakpoints and identification of novel fusion genes in paediatric high grade glioma |
| Q30975356 | The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci |
| Q38178892 | The role of de novo mutations in the genetics of autism spectrum disorders |
| Q81449391 | The search for a sequencing thoroughbred |
| Q36164141 | The search for genenotype/phenotype associations and the phenome scan |
| Q24329232 | The sequence and analysis of duplication-rich human chromosome 16 |
| Q22241409 | The shock of the new: progress in schizophrenia genomics |
| Q37088939 | The success of the genome-wide association approach: a brief story of a long struggle |
| Q28241076 | The use of different reference foods in determining the glycemic index of starchy and non-starchy test foods |
| Q41048467 | The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges |
| Q35857719 | The variations of IL-23R are associated with susceptibility and severe clinical forms of pulmonary tuberculosis in Chinese Uygurs |
| Q34636486 | To the beat of a different drum: determinants implicated in the asymmetric sequence divergence of Caenorhabditis elegans paralogs |
| Q33289823 | Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation |
| Q21184038 | Towards a comprehensive structural variation map of an individual human genome |
| Q37224723 | Towards an evidence-based process for the clinical interpretation of copy number variation |
| Q38344558 | Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms |
| Q90229201 | Transcriptional regulators and regulatory pathways involved in prostate gland adaptation to a hypoandrogen environment |
| Q37332925 | Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report |
| Q43137043 | Tumor genome wide DNA alterations assessed by array CGH in patients with poor and excellent survival following operation for colorectal cancer. |
| Q47207132 | TumorFusions: an integrative resource for cancer-associated transcript fusions. |
| Q44007964 | Tumours of the lacrimal gland. Epidemiological, clinical and genetic characteristics |
| Q46831456 | Two novel deletions (array CGH findings) in pigment dispersion syndrome |
| Q50462245 | Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy. |
| Q39959253 | Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations |
| Q46209795 | Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis |
| Q55323049 | Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems. |
| Q37172140 | Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood |
| Q34571921 | Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons |
| Q37143660 | Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling. |
| Q37101265 | Unique signatures of natural background radiation on human Y chromosomes from Kerala, India |
| Q41849316 | Use of array genomic hybridization technology for constitutional genetic diagnosis in Canada |
| Q54334271 | Use of array genomic hybridization technology in prenatal diagnosis in Canada. |
| Q46120931 | Use of array-based technology in the practice of medical genetics |
| Q37436398 | Use of cell lines in the investigation of pharmacogenetic loci |
| Q50084544 | Use of deep whole genome sequencing data to identify structure risk variants in breast cancer susceptibility genes. |
| Q24653974 | Use of high-density tiling microarrays to identify mutations globally and elucidate mechanisms of drug resistance in Plasmodium falciparum |
| Q28390558 | Use of single nucleotide polymorphism array technology to improve the identification of chromosomal lesions in leukemia |
| Q24604693 | Using ERDS to infer copy-number variants in high-coverage genomes |
| Q40252888 | Using iPSCs and genomics to catch CNVs in the act. |
| Q36686694 | Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans |
| Q36802356 | VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations |
| Q33912197 | Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. |
| Q38853709 | Validation of copy number variation analysis for next-generation sequencing diagnostics |
| Q53061950 | Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. |
| Q42650456 | Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment. |
| Q37383009 | Variants in doublecortin- and calmodulin kinase like 1, a gene up-regulated by BDNF, are associated with memory and general cognitive abilities |
| Q46252280 | Variation of CNV distribution in five different ethnic populations |
| Q35608520 | Variation resources at UC Santa Cruz |
| Q37202458 | VarySysDB: a human genetic polymorphism database based on all H-InvDB transcripts |
| Q34689307 | ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation |
| Q31120125 | Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio |
| Q81913776 | Vive la difference! |
| Q34128497 | What would you do if you could sequence everything? |
| Q34749135 | What's wrong with Tourette syndrome? |
| Q30945351 | Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations |
| Q33468837 | Whole genome scanning: resolving clinical diagnosis and management amidst complex data |
| Q34868594 | Whole population, genome-wide mapping of hidden relatedness |
| Q35042570 | Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome |
| Q38445772 | Whole-genome CNV analysis: advances in computational approaches |
| Q33855441 | Whole-genome amplification enables accurate genotyping for microarray-based high-density single nucleotide polymorphism array |
| Q51909807 | Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. |
| Q36203150 | Whole-genome resequencing of 100 healthy individuals using DNA pooling |
| Q38006829 | Whole-genome sequencing in personalized therapeutics |
| Q82098598 | Widening the spectrum of human genetic variation |
| Q42171696 | Widespread duplications in the genomes of laboratory stocks of Dictyostelium discoideum |
| Q34675319 | Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders |
| Q33307788 | X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. |
| Q41691078 | XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments. |
| Q81743327 | [General concepts and study methods in pharmacogenetics] |
| Q41791558 | arrayMap 2014: an updated cancer genome resource |
| Q34520103 | cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data. |
| Q81886550 | dbQSNP: a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods |
| Q24612419 | forestSV: structural variant discovery through statistical learning |
| Q33957530 | i-GSEA4GWAS: a web server for identification of pathways/gene sets associated with traits by applying an improved gene set enrichment analysis to genome-wide association study |
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