Origins and functional impact of copy number variation in the human genome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-04

AUTHORS

Donald F. Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Omer Gokcumen, Yujun Zhang, Jan Aerts, T. Daniel Andrews, Chris Barnes, Peter Campbell, Tomas Fitzgerald, Min Hu, Chun Hwa Ihm, Kati Kristiansson, Daniel G. MacArthur, Jeffrey R. MacDonald, Ifejinelo Onyiah, Andy Wing Chun Pang, Sam Robson, Kathy Stirrups, Armand Valsesia, Klaudia Walter, John Wei, The Wellcome Trust Case Control Consortium, Chris Tyler-Smith, Nigel P. Carter, Charles Lee, Stephen W. Scherer, Matthew E. Hurles

ABSTRACT

Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained. Here we use tiling oligonucleotide microarrays, comprising 42 million probes, to generate a comprehensive map of 11,700 copy number variations (CNVs) greater than 443 base pairs, of which most (8,599) have been validated independently. For 4,978 of these CNVs, we generated reference genotypes from 450 individuals of European, African or East Asian ancestry. The predominant mutational mechanisms differ among CNV size classes. Retrotransposition has duplicated and inserted some coding and non-coding DNA segments randomly around the genome. Furthermore, by correlation with known trait-associated single nucleotide polymorphisms (SNPs), we identified 30 loci with CNVs that are candidates for influencing disease susceptibility. Despite this, having assessed the completeness of our map and the patterns of linkage disequilibrium between CNVs and SNPs, we conclude that, for complex traits, the heritability void left by genome-wide association studies will not be accounted for by common CNVs. More... »

PAGES

704

References to SciGraph publications

  • 2007-10-18. A second generation human haplotype map of over 3.1 million SNPs in NATURE
  • 2007-10. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans in NATURE GENETICS
  • 2007-10-18. Genome-wide detection and characterization of positive selection in human populations in NATURE
  • 2008-09. Contemplating effects of genomic structural variation in GENETICS IN MEDICINE
  • 2007-07. A new multipoint method for genome-wide association studies by imputation of genotypes in NATURE GENETICS
  • 2008-10. A robust statistical method for case-control association testing with copy number variation in NATURE GENETICS
  • 2007-07. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders in NATURE GENETICS
  • 2006-01. A high-resolution survey of deletion polymorphism in the human genome in NATURE GENETICS
  • 2006-11. Global variation in copy number in the human genome in NATURE
  • 2004-09. Detection of large-scale variation in the human genome in NATURE GENETICS
  • 2008-09. Single-nucleotide mutation rate increases close to insertions/deletions in eukaryotes in NATURE
  • 2009-01. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation in NATURE GENETICS
  • 2008-12. Mechanisms for human genomic rearrangements in PATHOGENETICS
  • 2008-02. Proportionally more deleterious genetic variation in European than in African populations in NATURE
  • 2008-11. Human genetics: Individual genomes diversify in NATURE
  • 2005-07. Fine-scale structural variation of the human genome in NATURE GENETICS
  • 2008-04-17. The complete genome of an individual by massively parallel DNA sequencing in NATURE
  • 2008-09. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease in NATURE GENETICS
  • 2008-05. Mapping and sequencing of structural variation from eight human genomes in NATURE
  • 2008-10. Integrated detection and population-genetic analysis of SNPs and copy number variation in NATURE GENETICS
  • 2008-09. A common sequence motif associated with recombination hot spots and genome instability in humans in NATURE GENETICS
  • 2004-10. Finishing the euchromatic sequence of the human genome in NATURE
  • 2008-06. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing in NATURE GENETICS
  • 2009-02. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature08516

    DOI

    http://dx.doi.org/10.1038/nature08516

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1052442014

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/19812545


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