Mapping and sequencing of structural variation from eight human genomes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-05

AUTHORS

Jeffrey M. Kidd, Gregory M. Cooper, William F. Donahue, Hillary S. Hayden, Nick Sampas, Tina Graves, Nancy Hansen, Brian Teague, Can Alkan, Francesca Antonacci, Eric Haugen, Troy Zerr, N. Alice Yamada, Peter Tsang, Tera L. Newman, Eray Tüzün, Ze Cheng, Heather M. Ebling, Nadeem Tusneem, Robert David, Will Gillett, Karen A. Phelps, Molly Weaver, David Saranga, Adrianne Brand, Wei Tao, Erik Gustafson, Kevin McKernan, Lin Chen, Maika Malig, Joshua D. Smith, Joshua M. Korn, Steven A. McCarroll, David A. Altshuler, Daniel A. Peiffer, Michael Dorschner, John Stamatoyannopoulos, David Schwartz, Deborah A. Nickerson, James C. Mullikin, Richard K. Wilson, Laurakay Bruhn, Maynard V. Olson, Rajinder Kaul, Douglas R. Smith, Evan E. Eichler

ABSTRACT

Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale--particularly insertions, deletions and inversions affecting from a few thousand to a few million base pairs. We employed a clone-based method to interrogate this intermediate structural variation in eight individuals of diverse geographic ancestry. Our analysis provides a comprehensive overview of the normal pattern of structural variation present in these genomes, refining the location of 1,695 structural variants. We find that 50% were seen in more than one individual and that nearly half lay outside regions of the genome previously described as structurally variant. We discover 525 new insertion sequences that are not present in the human reference genome and show that many of these are variable in copy number between individuals. Complete sequencing of 261 structural variants reveals considerable locus complexity and provides insights into the different mutational processes that have shaped the human genome. These data provide the first high-resolution sequence map of human structural variation--a standard for genotyping platforms and a prelude to future individual genome sequencing projects. More... »

PAGES

56-64

References to SciGraph publications

  • 2005-02. A common inversion under selection in Europeans in NATURE GENETICS
  • 2006-12. Genome assembly comparison identifies structural variants in the human genome in NATURE GENETICS
  • 2005-09. A genome-wide comparison of recent chimpanzee and human segmental duplications in NATURE
  • 1997-05. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats in NATURE GENETICS
  • 2006-01. DNA sequence and analysis of human chromosome 8 in NATURE
  • 2005-07. Fine-scale structural variation of the human genome in NATURE GENETICS
  • 2006-09. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome in NATURE GENETICS
  • 2006-01. Common deletion polymorphisms in the human genome in NATURE GENETICS
  • 2005-10. A haplotype map of the human genome in NATURE
  • 2006-01. Common deletions and SNPs are in linkage disequilibrium in the human genome in NATURE GENETICS
  • 2008-01. Closing gaps in the human genome with fosmid resources generated from multiple individuals in NATURE GENETICS
  • 2007-07. Mutational and selective effects on copy-number variants in the human genome in NATURE GENETICS
  • 2006-11. Global variation in copy number in the human genome in NATURE
  • 2001-02. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms in NATURE
  • 2006-02. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans in NATURE
  • 2008-01. Psoriasis is associated with increased β-defensin genomic copy number in NATURE GENETICS
  • 2006-01. A high-resolution survey of deletion polymorphism in the human genome in NATURE GENETICS
  • 2004-09. Detection of large-scale variation in the human genome in NATURE GENETICS
  • 2007-07. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project in NATURE
  • 2007-05. Completing the map of human genetic variation in NATURE
  • 2007-07. Challenges and standards in integrating surveys of structural variation in NATURE GENETICS
  • Journal

    TITLE

    Nature

    ISSUE

    7191

    VOLUME

    453

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature06862

    DOI

    http://dx.doi.org/10.1038/nature06862

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1038272226

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/18451855


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