| scholarly article | Q13442814 |
| P50 | author | Andrew G. Clark | Q4757042 |
| Mark Bender Gerstein | Q6766711 | ||
| Richard Gibbs | Q17180615 | ||
| Michael D. Wilson | Q37623673 | ||
| Cristina Sisu | Q41047956 | ||
| Jieming Chen | Q41048514 | ||
| Alexej Abyzov | Q41050187 | ||
| Yong Kong | Q41879570 | ||
| Andrea Sboner | Q42869291 | ||
| Vincenza Colonna | Q54137672 | ||
| Tune H Pers | Q56435385 | ||
| Andrea Angius | Q56439149 | ||
| Jishnu Das | Q56517282 | ||
| Emmanouil Dermitzakis | Q59420022 | ||
| Graham R. S. Ritchie | Q64606267 | ||
| Suganthi Balasubramanian | Q81562269 | ||
| Lucas Lochovsky | Q82994902 | ||
| Zeynep H Gümüs | Q83012048 | ||
| Gabor T Marth | Q88195223 | ||
| Ekta Khurana | Q88419114 | ||
| Arif Harmanci | Q89207714 | ||
| Daniel G. MacArthur | Q90318161 | ||
| Yali Xue | Q90698819 | ||
| Erik Garrison | Q91809820 | ||
| Dimple Chakravarty | Q97533890 | ||
| Xinmeng Jasmine Mu | Q114578227 | ||
| Daniel Challis | Q123481735 | ||
| Robert Fragoza | Q125308759 | ||
| Mark Rubin | Q37375521 | ||
| Chris Tyler-Smith | Q28037359 | ||
| Kathryn Beal | Q28359485 | ||
| Paul Flicek | Q28359506 | ||
| Fiona Cunningham | Q30347508 | ||
| Tuuli Lappalainen | Q30347703 | ||
| Javier Herrero | Q30503090 | ||
| Laura Clarke | Q30503187 | ||
| Donna Muzny | Q32652849 | ||
| Klaudia Walter | Q37371637 | ||
| P2093 | author name string | Yuan Chen | |
| Jeffrey A Rosenfeld | |||
| Xiaomu Wei | |||
| Haiyuan Yu | |||
| Steven M Lipkin | |||
| Hyun Min Kang | |||
| Yao Fu | |||
| Kasper Lage | |||
| Uday S Evani | |||
| Declan Clarke | |||
| Fuli Yu | |||
| Zeynep H Gümüs | |||
| Naoki Kitabayashi | |||
| Vaja Liluashvili | |||
| P2860 | cites work | The diploid genome sequence of an individual human | Q21090194 |
| Classification of human genomic regions based on experimentally determined binding sites of more than 100 transcription-related factors | Q21183997 | ||
| Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates | Q21184099 | ||
| Molecular characterization of neuroendocrine prostate cancer and identification of new drug targets | Q39385550 | ||
| DEG: a database of essential genes | Q40403112 | ||
| The Human Gene Mutation Database: 2008 update | Q41809836 | ||
| Edgetic perturbation models of human inherited disorders | Q42124353 | ||
| Evidence of abundant purifying selection in humans for recently acquired regulatory functions | Q42740315 | ||
| Analytical methods for inferring functional effects of single base pair substitutions in human cancers | Q37478203 | ||
| The promise and reality of personal genomics | Q37590411 | ||
| In-silico human genomics with GeneCards | Q21245450 | ||
| Towards a proteome-scale map of the human protein–protein interaction network | Q21735930 | ||
| Ultraconserved Elements in the Human Genome | Q22065813 | ||
| Potential etiologic and functional implications of genome-wide association loci for human diseases and traits | Q22066284 | ||
| An integrated encyclopedia of DNA elements in the human genome | Q22122150 | ||
| An integrated map of genetic variation from 1,092 human genomes | Q22122153 | ||
| Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein | Q22253357 | ||
| Self-assembling protein microarrays | Q24298468 | ||
| p31comet blocks Mad2 activation through structural mimicry | Q24300775 | ||
| Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer | Q24307584 | ||
| Identification of a MAD2-binding protein, CMT2, and its role in mitosis | Q24321983 | ||
| Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection | Q24533937 | ||
| Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus | Q24540233 | ||
| The accessible chromatin landscape of the human genome | Q24595581 | ||
| Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma | Q24607661 | ||
| GENCODE: the reference human genome annotation for The ENCODE Project | Q24608743 | ||
| International network of cancer genome projects | Q24611474 | ||
| Mapping copy number variation by population-scale genome sequencing | Q24615307 | ||
| Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer | Q24616117 | ||
| A map of human genome variation from population-scale sequencing | Q24617794 | ||
| The genomic complexity of primary human prostate cancer | Q24617949 | ||
| Mutational processes molding the genomes of 21 breast cancers | Q24620915 | ||
| Comprehensive molecular characterization of human colon and rectal cancer | Q24630415 | ||
| Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library | Q24633716 | ||
| A census of human cancer genes | Q24647081 | ||
| High-quality binary protein interaction map of the yeast interactome network | Q24651397 | ||
| DEG 5.0, a database of essential genes in both prokaryotes and eukaryotes | Q24655902 | ||
| Global variation in copy number in the human genome | Q24658083 | ||
| Statistical significance for genomewide studies | Q24681264 | ||
| A novel high-throughput (HTP) cloning strategy for site-directed designed chimeragenesis and mutation using the Gateway cloning system | Q24816500 | ||
| Integrated genomic analyses of ovarian carcinoma | Q27860518 | ||
| Evo-Devo and an Expanding Evolutionary Synthesis: A Genetic Theory of Morphological Evolution | Q28111693 | ||
| Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays | Q28263829 | ||
| Natural selection has driven population differentiation in modern humans | Q28267194 | ||
| Comprehensive genomic characterization of squamous cell lung cancers | Q28274701 | ||
| hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes | Q28282212 | ||
| Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project | Q28301622 | ||
| Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria | Q28360504 | ||
| Three-dimensional reconstruction of protein networks provides insight into human genetic disease | Q28530021 | ||
| Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project | Q28740767 | ||
| Natural selection on genes that underlie human disease susceptibility | Q28757653 | ||
| Positive selection at the protein network periphery: Evaluation in terms of structural constraints and cellular context | Q29031692 | ||
| A framework for variation discovery and genotyping using next-generation DNA sequencing data | Q29547262 | ||
| A human phenome-interactome network of protein complexes implicated in genetic disorders | Q29614448 | ||
| Positive natural selection in the human lineage | Q29614585 | ||
| The mutational landscape of lethal castration-resistant prostate cancer | Q29614634 | ||
| Highly recurrent TERT promoter mutations in human melanoma | Q29614798 | ||
| Personal omics profiling reveals dynamic molecular and medical phenotypes | Q29614800 | ||
| Systematic localization of common disease-associated variation in regulatory DNA | Q29614895 | ||
| TERT promoter mutations in familial and sporadic melanoma | Q29614920 | ||
| A systematic survey of loss-of-function variants in human protein-coding genes | Q29615756 | ||
| Architecture of the human regulatory network derived from ENCODE data | Q29617046 | ||
| Evolutionary rate in the protein interaction network | Q29617048 | ||
| A census of human transcription factors: function, expression and evolution | Q29622841 | ||
| Promoter regions of many neural- and nutrition-related genes have experienced positive selection during human evolution. | Q30363389 | ||
| Identifying recent adaptations in large-scale genomic data | Q30427280 | ||
| Fast and flexible simulation of DNA sequence data | Q33386692 | ||
| RSEQtools: a modular framework to analyze RNA-Seq data using compact, anonymized data summaries | Q33764103 | ||
| Identifying a high fraction of the human genome to be under selective constraint using GERP++. | Q33769754 | ||
| iPfam: visualization of protein-protein interactions in PDB at domain and amino acid resolutions | Q33844563 | ||
| CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancer | Q33936060 | ||
| Rare and common regulatory variation in population-scale sequenced human genomes | Q33979528 | ||
| Null mutations in human and mouse orthologs frequently result in different phenotypes | Q34011529 | ||
| Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice | Q34121996 | ||
| Classic selective sweeps were rare in recent human evolution | Q34165349 | ||
| Demographic history and rare allele sharing among human populations | Q34197613 | ||
| Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations | Q34248736 | ||
| HINT: High-quality protein interactomes and their applications in understanding human disease | Q34356822 | ||
| The MIPS mammalian protein-protein interaction database | Q34365947 | ||
| Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia | Q34463484 | ||
| Interpretation of genomic variants using a unified biological network approach | Q34625256 | ||
| Human genome ultraconserved elements are ultraselected | Q34663950 | ||
| Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation | Q35001618 | ||
| AlleleSeq: analysis of allele-specific expression and binding in a network framework | Q35526123 | ||
| VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment | Q36186603 | ||
| Personal and population genomics of human regulatory variation | Q36201219 | ||
| TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal | Q36762656 | ||
| Punctuated evolution of prostate cancer genomes | Q36950514 | ||
| Interpreting noncoding genetic variation in complex traits and human disease | Q36988784 | ||
| P433 | issue | 6154 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | genomics | Q222046 |
| P304 | page(s) | 1235587 | |
| P577 | publication date | 2013-10-04 | |
| P1433 | published in | Science | Q192864 |
| P1476 | title | Integrative annotation of variants from 1092 humans: application to cancer genomics | |
| P478 | volume | 342 |
| Q35847227 | A Dual Model for Prioritizing Cancer Mutations in the Non-coding Genome Based on Germline and Somatic Events |
| Q41839294 | A comprehensive analysis of cancer-driving mutations and genes in kidney cancer |
| Q34679644 | A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations |
| Q34458674 | A method for calculating probabilities of fitness consequences for point mutations across the human genome |
| Q57157346 | A pan-cancer atlas of cancer hallmark-associated candidate driver lncRNAs |
| Q64055236 | A random walk-based method to identify driver genes by integrating the subcellular localization and variation frequency into bipartite graph |
| Q35489723 | A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing |
| Q39149150 | A scored human protein-protein interaction network to catalyze genomic interpretation. |
| Q30959484 | A statistical framework to predict functional non-coding regions in the human genome through integrated analysis of annotation data |
| Q36815060 | A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals |
| Q40702022 | All-or-(N)One - an epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci |
| Q36133333 | Alternative Splicing QTLs in European and African Populations |
| Q89581513 | Alternative polyadenylation drives oncogenic gene expression in pancreatic ductal adenocarcinoma |
| Q91871574 | An Integrated Three-Long Non-coding RNA Signature Predicts Prognosis in Colorectal Cancer Patients |
| Q35801066 | An improved understanding of cancer genomics through massively parallel sequencing |
| Q58044083 | An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder |
| Q89557100 | Analyses of non-coding somatic drivers in 2,658 cancer whole genomes |
| Q33946297 | Analysis of stop-gain and frameshift variants in human innate immunity genes |
| Q36984439 | Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation from unmapped sequence reads |
| Q33602374 | Ancient genes establish stress-induced mutation as a hallmark of cancer |
| Q64110537 | Applications of ENCODE data to Systematic Analyses via Data Integration |
| Q33711909 | Applications of the 1000 Genomes Project resources |
| Q38202510 | Architecture of inherited susceptibility to colorectal cancer: a voyage of discovery |
| Q38645015 | Beyond the exome: the role of non-coding somatic mutations in cancer |
| Q48769843 | Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. |
| Q46245220 | CNVcaller: Highly Efficient and Widely Applicable Software for Detecting Copy Number Variations in Large Populations |
| Q55058388 | Cancer driver mutation prediction through Bayesian integration of multi-omic data. |
| Q54310126 | Cancer genomics: Less is more in the hunt for driver mutations. |
| Q35854930 | Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations |
| Q35559123 | Characterization and identification of hidden rare variants in the human genome. |
| Q35786153 | ChiNet uncovers rewired transcription subnetworks in tolerant yeast for advanced biofuels conversion |
| Q48457099 | Chromatin structure-based prediction of recurrent noncoding mutations in cancer. |
| Q38248919 | Cis-regulatory elements and human evolution |
| Q30374056 | Cis-regulatory somatic mutations and gene-expression alteration in B-cell lymphomas. |
| Q33721903 | Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability. |
| Q42565283 | ContrastRank: a new method for ranking putative cancer driver genes and classification of tumor samples |
| Q54163960 | Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. |
| Q39768567 | Cross-Disciplinary Network Comparison: Matchmaking Between Hairballs |
| Q38259526 | Current trend of annotating single nucleotide variation in humans--A case study on SNVrap |
| Q33358608 | Dark matter RNA illuminates the puzzle of genome-wide association studies |
| Q42849591 | DawnRank: discovering personalized driver genes in cancer. |
| Q45975467 | De novo assembly of a haplotype-resolved human genome. |
| Q42134451 | Determination of specificity influencing residues for key transcription factor families |
| Q26827284 | Developments in our understanding of the genetic basis of birth defects |
| Q59058533 | Differential DNA repair underlies mutation hotspots at active promoters in cancer genomes |
| Q41541928 | Differential analysis between somatic mutation and germline variation profiles reveals cancer-related genes |
| Q40341031 | Digital model of the cancer cell - is this the time for us to debug/reprogram the cancer cell? |
| Q42033919 | Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci. |
| Q39070311 | Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study |
| Q37568422 | Diversity of human tRNA genes from the 1000-genomes project |
| Q55495686 | ETS transcription factors induce a unique UV damage signature that drives recurrent mutagenesis in melanoma. |
| Q38997020 | Emergence of the Noncoding Cancer Genome: A Target of Genetic and Epigenetic Alterations |
| Q38826989 | Enhancer deregulation in cancer and other diseases |
| Q34458974 | Enhancer sequence variants and transcription-factor deregulation synergize to construct pathogenic regulatory circuits in B-cell lymphoma |
| Q34624842 | Enhancer variants: evaluating functions in common disease |
| Q36319724 | Epigenomic annotation of noncoding mutations identifies mutated pathways in primary liver cancer |
| Q55032333 | Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond. |
| Q37472956 | Evaluating the impact of single nucleotide variants on transcription factor binding. |
| Q41532605 | Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia |
| Q57025279 | Evidence that RNA Viruses Drove Adaptive Introgression between Neanderthals and Modern Humans |
| Q28543059 | Evolutionary constraint and disease associations of post-translational modification sites in human genomes |
| Q38988654 | Exome Sequencing: Current and Future Perspectives |
| Q34207474 | Expanding the computational toolbox for mining cancer genomes |
| Q37336903 | Explaining the disease phenotype of intergenic SNP through predicted long range regulation |
| Q90084031 | Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations |
| Q88571284 | FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications |
| Q64082413 | FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing data |
| Q34375331 | FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer |
| Q35784256 | Functional annotation of HOT regions in the human genome: implications for human disease and cancer. |
| Q37001419 | Functional annotation of noncoding variants and prioritization of cancer-associated lncRNAs in lung cancer |
| Q37371099 | GO-FAANG meeting: a Gathering On Functional Annotation of Animal Genomes |
| Q93011785 | GRAM: A GeneRAlized Model to predict the molecular effect of a non-coding variant in a cell-type specific manner |
| Q47868367 | Gene co-opening network deciphers gene functional relationships |
| Q36815646 | Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database |
| Q42678820 | Genetic Load of Loss-of-Function Polymorphic Variants in Great Apes |
| Q42371793 | Genetic variants affecting equivalent protein family positions reflect human diversity. |
| Q97905883 | Genetics of extreme human longevity to guide drug discovery for healthy ageing |
| Q33737782 | Genome annotation for clinical genomic diagnostics: strengths and weaknesses |
| Q37261999 | Genome-Wide Identification of Regulatory Sequences Undergoing Accelerated Evolution in the Human Genome |
| Q41842692 | Genome-wide analysis of noncoding regulatory mutations in cancer |
| Q37165678 | Genome-wide characteristics of de novo mutations in autism |
| Q36084287 | Genomic approaches for understanding the genetics of complex disease |
| Q91525724 | Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico |
| Q31159221 | Global inference of disease-causing single nucleotide variants from exome sequencing data |
| Q38871843 | Global transcription network incorporating distal regulator binding reveals selective cooperation of cancer drivers and risk genes |
| Q90569019 | HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia |
| Q74441788 | Hard-to-reach repairs |
| Q91752140 | Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions |
| Q55249119 | High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing. |
| Q34342301 | Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences |
| Q34475541 | Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans |
| Q39824289 | Identification and Evolutionary Analysis of Potential Candidate Genes in a Human Eating Disorder |
| Q35840001 | Identification of High-Impact cis-Regulatory Mutations Using Transcription Factor Specific Random Forest Models |
| Q34468556 | Identification of a large set of rare complete human knockouts |
| Q40277542 | Identification of genetic variants affecting vitamin D receptor binding and associations with autoimmune disease |
| Q38657057 | Identification of novel prostate cancer drivers using RegNetDriver: a framework for integration of genetic and epigenetic alterations with tissue-specific regulatory network |
| Q34521677 | Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation |
| Q91855356 | Identifying Cancer Driver lncRNAs Bridged by Functional Effectors through Integrating Multi-omics Data in Human Cancers |
| Q49912692 | Identifying noncoding risk variants using disease-relevant gene regulatory networks. |
| Q38361348 | Identifying the biological basis of GWAS hits for endometriosis. |
| Q27016149 | Impact of allele-specific peptides in proteome quantification |
| Q23815226 | Improved exome prioritization of disease genes through cross-species phenotype comparison |
| Q35741562 | In-silico identification and functional validation of allele-dependent AR enhancers |
| Q28079314 | Independent evolution of genomic characters during major metazoan transitions |
| Q29525070 | Individualized medicine from prewomb to tomb |
| Q37114357 | Insights into the Genetic Basis of the Renal Cell Carcinomas from The Cancer Genome Atlas |
| Q35410361 | Integrated analysis reveals microRNA networks coordinately expressed with key proteins in breast cancer |
| Q35130969 | Integrative analysis of public ChIP-seq experiments reveals a complex multi-cell regulatory landscape |
| Q30396267 | Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats |
| Q35044139 | Intrinsic disorder mediates hepatitis C virus core-host cell protein interactions. |
| Q61735616 | Intronic CNVs and gene expression variation in human populations |
| Q36676636 | LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations |
| Q38702388 | Landscape and variation of novel retroduplications in 26 human populations. |
| Q34046731 | Landscape of somatic mutations in 560 breast cancer whole-genome sequences |
| Q34468572 | Large-scale whole-genome sequencing of the Icelandic population |
| Q33631309 | Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'. |
| Q38183344 | Locus-specific databases in cancer: what future in a post-genomic era? The TP53 LSDB paradigm |
| Q64254546 | Long Noncoding RNA and Epithelial Mesenchymal Transition in Cancer |
| Q95925271 | Mapping and characterization of structural variation in 17,795 human genomes |
| Q28082759 | Mechanisms of mutational robustness in transcriptional regulation |
| Q36011884 | MetaNetVar: Pipeline for applying network analysis tools for genomic variants analysis. |
| Q34212558 | Missing heritability of common diseases and treatments outside the protein-coding exome |
| Q36565742 | Mutation pattern is an influential factor on functional mutation rates in cancer |
| Q35885933 | Natural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution |
| Q36064184 | Negative selection maintains transcription factor binding motifs in human cancer. |
| Q47336135 | NetSig: network-based discovery from cancer genomes. |
| Q36319623 | Network perturbation by recurrent regulatory variants in cancer |
| Q42251890 | Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate |
| Q58134002 | Non-coding genetic variation in cancer |
| Q39853410 | Nucleotide excision repair is impaired by binding of transcription factors to DNA. |
| Q28269966 | ORegAnno 3.0: a community-driven resource for curated regulatory annotation |
| Q34474391 | OncoCis: annotation of cis-regulatory mutations in cancer |
| Q48200743 | Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival |
| Q89831427 | Passenger Mutations in More Than 2,500 Cancer Genomes: Overall Molecular Functional Impact and Consequences |
| Q52576489 | Paternally inherited cis-regulatory structural variants are associated with autism. |
| Q48158666 | Patterns of variation in cis-regulatory regions: examining evidence of purifying selection |
| Q43870817 | Phen-Gen: combining phenotype and genotype to analyze rare disorders |
| Q64077891 | Positive selection in Europeans and East-Asians at the ABCA12 gene |
| Q39019885 | Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits |
| Q26748603 | Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine |
| Q39702281 | Predicting regulatory variants with composite statistic. |
| Q100737123 | Prediction of genome-wide effects of single nucleotide variants on transcription factor binding |
| Q47210541 | Principles and methods of in-silico prioritization of non-coding regulatory variants |
| Q33830995 | Prioritization of neurodevelopmental disease genes by discovery of new mutations |
| Q37407327 | Prioritization of non-coding disease-causing variants and long non-coding RNAs in liver cancer |
| Q35648055 | Quantifying the cumulative effect of low-penetrance genetic variants on breast cancer risk |
| Q26764745 | Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer |
| Q50001234 | QuantumClone: Clonal assessment of functional mutations in cancer based on a genotype-aware method for clonal reconstruction. |
| Q98163642 | RADAR: annotation and prioritization of variants in the post-transcriptional regulome of RNA-binding proteins |
| Q42558500 | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease |
| Q35227288 | Re-annotation of presumed noncoding disease/trait-associated genetic variants by integrative analyses |
| Q35784896 | Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs |
| Q38371193 | Reads meet rotamers: structural biology in the age of deep sequencing |
| Q22122064 | Recombination affects accumulation of damaging and disease-associated mutations in human populations |
| Q40211104 | Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma |
| Q35797838 | Recurrent somatic mutations in regulatory regions of human cancer genomes |
| Q38697838 | Reducing GWAS Complexity |
| Q92149074 | RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants |
| Q39091526 | Regulatory elements in molecular networks |
| Q34509633 | Role of non-coding sequence variants in cancer |
| Q22121997 | Sequencing pools of individuals — mining genome-wide polymorphism data without big funding |
| Q35328471 | Sequencing the AML genome, transcriptome, and epigenome |
| Q38646971 | Short-Circuiting Gene Regulatory Networks: Origins of B Cell Lymphoma |
| Q34474372 | SuRFing the genomics wave: an R package for prioritising SNPs by functionality |
| Q35200884 | Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease |
| Q44542959 | The CAVE artists |
| Q35981072 | The Functional Human C-Terminome |
| Q27014740 | The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities |
| Q35762251 | The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity |
| Q88733253 | The MDM2 rs937283 A > G variant significantly increases the risk of lung and gastric cancer in Chinese population |
| Q34674332 | The Molecular Taxonomy of Primary Prostate Cancer |
| Q35012628 | The challenge of small-scale repeats for indel discovery |
| Q46751732 | The distribution pattern of genetic variation in the transcript isoforms of the alternatively spliced protein-coding genes in the human genome |
| Q28077234 | The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery |
| Q35023231 | The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing |
| Q28591103 | The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences |
| Q36233594 | The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease |
| Q26781886 | The search for cis-regulatory driver mutations in cancer genomes |
| Q49961986 | Therapeutic Targeting of Long Non-Coding RNAs in Cancer. |
| Q55046187 | Towards pan-genome read alignment to improve variation calling. |
| Q42086154 | Transcription factors bind negatively selected sites within human mtDNA genes |
| Q28067751 | Transcriptional Dynamics at Brain Enhancers: from Functional Specialization to Neurodegeneration |
| Q26782507 | Transcriptional enhancers: functional insights and role in human disease |
| Q38603105 | Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes |
| Q38809250 | Using FunSeq2 for Coding and Non-Coding Variant Annotation and Prioritization |
| Q42042182 | Using common variants to indicate cancer genes |
| Q100560251 | Using whole-exome sequencing and protein interaction networks to prioritize candidate genes for germline cutaneous melanoma susceptibility |
| Q35323661 | VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants |
| Q34456701 | Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases |
| Q35888105 | Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations |
| Q40151513 | Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma. |
| Q33563168 | Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations |
| Q36697961 | dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions |
| Q38621817 | iCAVE: an open source tool for visualizing biomolecular networks in 3D, stereoscopic 3D and immersive 3D. |
| Q41571023 | mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing |
| Q36300830 | motifbreakR: an R/Bioconductor package for predicting variant effects at transcription factor binding sites |
| Q90070194 | regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants |
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