| review article | Q7318358 |
| scholarly article | Q13442814 |
| P50 | author | Matthew Hurles | Q56084738 |
| Donald F Conrad | Q59199420 | ||
| P2860 | cites work | A map of recent positive selection in the human genome | Q21563624 |
| Pseudogenes: Are They “Junk” or Functional DNA? | Q22065389 | ||
| Structural variation in the human genome | Q22122017 | ||
| Fine-scale structural variation of the human genome | Q22122044 | ||
| Initial sequence of the chimpanzee genome and comparison with the human genome | Q22122468 | ||
| Detecting recent positive selection in the human genome from haplotype structure | Q22122511 | ||
| Are rare variants responsible for susceptibility to complex diseases? | Q22337172 | ||
| THE NUMBER OF ALLELES THAT CAN BE MAINTAINED IN A FINITE POPULATION | Q24533323 | ||
| Inference of population structure using multilocus genotype data | Q24548114 | ||
| Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms | Q24561672 | ||
| Global variation in copy number in the human genome | Q24658083 | ||
| Scan of human genome reveals no new Loci under ancient balancing selection | Q24676642 | ||
| An apportionment of human DNA diversity | Q24679403 | ||
| A haplotype map of the human genome | Q24679827 | ||
| Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies | Q24811003 | ||
| Bias of selection on human copy-number variants | Q25257186 | ||
| Detection of large-scale variation in the human genome | Q28131803 | ||
| Segmental duplications and copy-number variation in the human genome | Q28253048 | ||
| Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains | Q28261261 | ||
| A genome-wide comparison of recent chimpanzee and human segmental duplications | Q28270097 | ||
| Large-scale copy number polymorphism in the human genome | Q28273726 | ||
| The DNA sequence and comparative analysis of human chromosome 5 | Q28282527 | ||
| High mutation rates have driven extensive structural polymorphism among human Y chromosomes | Q28299248 | ||
| The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility | Q28301418 | ||
| Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication | Q28768531 | ||
| The rate of molecular evolution considered from the standpoint of population genetics | Q28776809 | ||
| Positive natural selection in the human lineage | Q29614585 | ||
| High resolution of human evolutionary trees with polymorphic microsatellites | Q29614665 | ||
| Analysis of Gene Diversity in Subdivided Populations | Q29614669 | ||
| Genome architecture, rearrangements and genomic disorders | Q29614721 | ||
| A fine-scale map of recombination rates and hotspots across the human genome | Q29614885 | ||
| A common inversion under selection in Europeans | Q29614908 | ||
| Recent segmental duplications in the human genome | Q29616016 | ||
| The genetical structure of populations | Q29616058 | ||
| Genome assembly comparison identifies structural variants in the human genome. | Q30397677 | ||
| De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints | Q30445573 | ||
| Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome | Q30477871 | ||
| Correcting for ascertainment biases when analyzing SNP data: applications to the estimation of linkage disequilibrium | Q30784682 | ||
| Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data | Q30887013 | ||
| Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes | Q31026014 | ||
| A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N | Q33909523 | ||
| Molecular mechanisms for constitutional chromosomal rearrangements in humans | Q33926237 | ||
| Adjusting the focus on human variation | Q33945651 | ||
| Allele frequencies at microsatellite loci: the stepwise mutation model revisited | Q33960599 | ||
| An initial map of insertion and deletion (INDEL) variation in the human genome. | Q33998460 | ||
| Positive selection of a gene family during the emergence of humans and African apes | Q34093749 | ||
| Ascertainment bias in studies of human genome-wide polymorphism. | Q34206539 | ||
| The fine-scale structure of recombination rate variation in the human genome | Q34315919 | ||
| A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans | Q34389824 | ||
| Estimating allele age. | Q34433384 | ||
| Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans | Q34495131 | ||
| Hotspots for copy number variation in chimpanzees and humans | Q34649980 | ||
| Accurate and reliable high-throughput detection of copy number variation in the human genome | Q35173713 | ||
| Recurrent duplication-driven transposition of DNA during hominoid evolution | Q35214947 | ||
| The complex interplay among factors that influence allelic association. | Q35634519 | ||
| Human diallelic insertion/deletion polymorphisms | Q37203127 | ||
| Assaying chromosomal inversions by single-molecule haplotyping | Q37211605 | ||
| Breakpoints of gross deletions coincide with non-B DNA conformations | Q37557324 | ||
| High-throughput genotyping of intermediate-size structural variation | Q40348513 | ||
| High frequencies of alpha-thalassaemia are the result of natural selection by malaria | Q41469371 | ||
| Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate | Q41751189 | ||
| Evidence for positive selection in the superoxide dismutase (Sod) region of Drosophila melanogaster | Q41825951 | ||
| Mutational mechanisms of Williams-Beuren syndrome deletions | Q41897140 | ||
| The effect of gene conversion on intralocus associations. | Q42575749 | ||
| A worldwide survey of haplotype variation and linkage disequilibrium in the human genome | Q42601487 | ||
| Complex SNP-related sequence variation in segmental genome duplications | Q48182929 | ||
| A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16. | Q48265639 | ||
| Common deletion polymorphisms in the human genome. | Q54618648 | ||
| Common deletions and SNPs are in linkage disequilibrium in the human genome | Q57264082 | ||
| Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males | Q57473736 | ||
| Minisatellite diversity supports a recent African origin for modern humans | Q57718889 | ||
| A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population | Q69654053 | ||
| Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males | Q74592036 | ||
| A high-resolution survey of deletion polymorphism in the human genome | Q94465012 | ||
| P433 | issue | 7 Suppl | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | population genetics | Q31151 |
| P304 | page(s) | S30-6 | |
| P577 | publication date | 2007-07-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | The population genetics of structural variation | |
| P478 | volume | 39 |
| Q37365197 | (Epi)genomics and neurodevelopment in schizophrenia: monozygotic twins discordant for schizophrenia augment the search for disease-related (epi)genomic alterations |
| Q44054130 | A Bayesian segmentation approach to ascertain copy number variations at the population level |
| Q28256361 | A copy number variation map of the human genome |
| Q36340996 | A framework for assessing the risk of resistance for anti-malarials in development |
| Q34314872 | A genome-wide detection of copy number variations using SNP genotyping arrays in swine |
| Q33638314 | A global analysis of CNVs in swine using whole genome sequence data and association analysis with fatty acid composition and growth traits. |
| 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 |
| Q30827204 | A sequential Monte Carlo framework for haplotype inference in CNV/SNP genotype data |
| Q28748891 | African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping |
| Q41257023 | An algorithm for inferring complex haplotypes in a region of copy-number variation |
| 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 |
| Q33910961 | Analysis of copy number variation in the Abp gene regions of two house mouse subspecies suggests divergence during the gene family expansions |
| Q34037256 | Association between reduced copy-number at T-cell receptor gamma (TCRgamma) and childhood allergic asthma: A possible role for somatic mosaicism. |
| Q33611321 | Biological relevance of CNV calling methods using familial relatedness including monozygotic twins |
| Q33760787 | CNV Analysis of Host Responses to Porcine Reproductive and Respiratory Syndrome Virus Infection |
| Q36863524 | Challenges and standards in integrating surveys of structural variation |
| Q61446131 | Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa |
| Q34091158 | Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children. |
| Q37315301 | Contemplating effects of genomic structural variation |
| Q37527167 | Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization. |
| Q36961255 | Copy number variation and evolution in humans and chimpanzees |
| Q38025959 | Copy number variation in the cattle genome. |
| Q37964461 | Copy number variation in the domestic dog. |
| Q33526497 | Copy number variation in the genomes of twelve natural isolates of Caenorhabditis elegans |
| Q33726145 | Copy number variation in the porcine genome inferred from a 60 k SNP BeadChip |
| Q37318174 | Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease |
| Q60937500 | Detection and visualization of complex structural variants from long reads |
| Q33883064 | Detection of genome-wide copy number variations in two chicken lines divergently selected for abdominal fat content |
| Q37008313 | Diversity and population-genetic properties of copy number variations and multicopy genes in cattle |
| Q33540206 | Dosage sensitivity shapes the evolution of copy-number varied regions. |
| Q56903072 | Double Dutch for duplications |
| Q58542885 | Effect of collapsed duplications on diversity estimates: what to expect |
| Q46039825 | Elucidation of the complex structure and origin of the human trypsinogen locus triplication. |
| Q31120762 | Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2 |
| Q46881434 | Evolutionary origin and human-specific expansion of a cancer/testis antigen gene family |
| Q41758989 | Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation |
| Q28598120 | Fitness consequences of polymorphic inversions in the zebra finch genome |
| Q33805828 | From microscopes to microarrays: dissecting recurrent chromosomal rearrangements |
| Q93009104 | Functional and population genetic features of copy number variations in two dairy cattle populations |
| Q33490245 | Gene copy number variation throughout the Plasmodium falciparum genome |
| Q37281239 | Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis |
| Q37472230 | Genetics of asthma: a molecular biologist perspective |
| Q35088675 | Genome architecture and its roles in human copy number variation. |
| Q48275420 | Genome evolution, structural rearrangements and speciation |
| Q57777564 | Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin–Beck disease |
| Q34995475 | Genome-wide copy number variations in Oryza sativa L. |
| Q34322024 | Genome-wide patterns of standing genetic variation in a marine population of three-spined sticklebacks |
| Q33790333 | Genome-wide scan for copy number variation association with age at onset of Alzheimer's disease |
| Q37185705 | Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders |
| Q35597451 | Haplotype phasing and inheritance of copy number variants in nuclear families |
| Q34964608 | High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians |
| Q29614580 | Human genetic variation and its contribution to complex traits |
| Q35913213 | Identification of Copy Number Variations in Xiang and Kele Pigs |
| Q34182841 | Inferring haplotypes of copy number variations from high-throughput data with uncertainty |
| Q34771441 | Large scale variation in DNA copy number in chicken breeds |
| Q39097962 | Level of genetic differentiation affects relative performances of expressed sequence tag and genomic SSRs |
| Q36100124 | Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods |
| Q33881264 | Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications |
| Q31156092 | MOCSphaser: a haplotype inference tool from a mixture of copy number variation and single nucleotide polymorphism data |
| Q26774876 | Medical case reports in the age of genomic medicine |
| Q36830873 | Microbial variome database: point mutations, adaptive or not, in bacterial core genomes |
| Q46168265 | Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study |
| Q64896022 | Mutational and transcriptional landscape of spontaneous gene duplications and deletions in Caenorhabditis elegans. |
| Q34123495 | Natural selection and the distribution of identity-by-descent in the human genome |
| Q34953729 | Olfactory copy number association with age at onset of Alzheimer disease |
| Q36899772 | Ordered subset analysis of copy number variation association with age at onset of Alzheimer's disease |
| Q34013710 | Osteoporosis: an evolutionary perspective |
| Q29614933 | PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data |
| Q40075788 | Plasmodium copy number variation scan: gene copy numbers evaluation in haploid genomes |
| Q56350341 | Plasmodium falciparum Plasmepsin 2 Duplications, West Africa |
| Q33630664 | Population-genetic nature of copy number variations in the human genome |
| Q36719514 | Population-genetic properties of differentiated copy number variations in cattle. |
| Q37532036 | Progress in the detection of human genome structural variations |
| Q21999552 | Quantifying the mechanisms of domain gain in animal proteins |
| Q35033219 | Recent findings in the genetics of blood pressure and hypertension traits |
| Q39922680 | Recurrent copy number variants associated with bronchopulmonary dysplasia |
| Q33742242 | Refined QTLs of osteoporosis-related traits by linkage analysis with genome-wide SNPs: Framingham SHARe |
| Q42097541 | Segmentation and estimation for SNP microarrays: a Bayesian multiple change-point approach |
| Q31169803 | SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data |
| Q44620603 | SgD-CNV, a database for common and rare copy number variants in three Asian populations |
| Q30375437 | Structural conservation of a short, functional, peptide-sequence motif |
| Q38286640 | Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis |
| Q33463258 | Systematic identification of balanced transposition polymorphisms in Saccharomyces cerevisiae |
| Q33556713 | The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations |
| Q28685216 | The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation |
| Q37704614 | The clinical context of copy number variation in the human genome |
| Q37524442 | The comparative landscape of duplications in Heliconius melpomene and Heliconius cydno |
| Q37415207 | The evolutionary significance of copy number variation in the human genome |
| Q37141839 | The fine-scale and complex architecture of human copy-number variation |
| Q88344737 | The most common technologies and tools for functional genome analysis |
| Q100558717 | The structural variation landscape in 492 Atlantic salmon genomes |
| Q47135262 | Trans-oceanic genomic divergence of Atlantic cod ecotypes is associated with large inversions. |
| Q35404613 | Ulysses: accurate detection of low-frequency structural variations in large insert-size sequencing libraries |
| Q36171109 | Unexpected effects of different genetic backgrounds on identification of genomic rearrangements via whole-genome next generation sequencing |
| Q42414829 | Web-based database and viewer of East asian copy number variations |
| Q30945351 | Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations |
| Q34675319 | Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders |
| Q33870768 | cn.FARMS: a latent variable model to detect copy number variations in microarray data with a low false discovery rate |
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