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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Author

Listed:
  • Wenqing Fu

    (University of Washington)

  • Timothy D. O’Connor

    (University of Washington)

  • Goo Jun

    (University of Michigan)

  • Hyun Min Kang

    (University of Michigan)

  • Goncalo Abecasis

    (University of Michigan)

  • Suzanne M. Leal

    (Baylor College of Medicine)

  • Stacey Gabriel

    (Broad Institute of MIT and Harvard)

  • Mark J. Rieder

    (University of Washington)

  • David Altshuler

    (Broad Institute of MIT and Harvard)

  • Jay Shendure

    (University of Washington)

  • Deborah A. Nickerson

    (University of Washington)

  • Michael J. Bamshad

    (University of Washington
    University of Washington)

  • NHLBI Exome Sequencing Project

    (*Lists of participants and affiliations appear in the Supplementary Information)

  • Joshua M. Akey

    (University of Washington)

Abstract

Resequencing of genes from individuals of European and African American ancestry indicates that approximately 73% of all protein-coding SNVs and approximately 86% of SNVs predicted to be deleterious arose in the past 5,000–10,000 years, and that European Americans carry an excess of deleterious variants in essential and Mendelian disease genes compared to African Americans.

Suggested Citation

  • Wenqing Fu & Timothy D. O’Connor & Goo Jun & Hyun Min Kang & Goncalo Abecasis & Suzanne M. Leal & Stacey Gabriel & Mark J. Rieder & David Altshuler & Jay Shendure & Deborah A. Nickerson & Michael J. B, 2013. "Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants," Nature, Nature, vol. 493(7431), pages 216-220, January.
    • Handle: RePEc:nat:nature:v:493:y:2013:i:7431:d:10.1038_nature11690
    DOI: 10.1038/nature11690
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    Cited by:

    1. Mathurin Dorel & Bertram Klinger & Tommaso Mari & Joern Toedling & Eric Blanc & Clemens Messerschmidt & Michal Nadler-Holly & Matthias Ziehm & Anja Sieber & Falk Hertwig & Dieter Beule & Angelika Egge, 2021. "Neuroblastoma signalling models unveil combination therapies targeting feedback-mediated resistance," PLOS Computational Biology, Public Library of Science, vol. 17(11), pages 1-26, November.
    2. Abhishek Niroula & Mauno Vihinen, 2019. "How good are pathogenicity predictors in detecting benign variants?," PLOS Computational Biology, Public Library of Science, vol. 15(2), pages 1-17, February.
    3. Melfi, Andrew & Viswanath, Divakar, 2018. "The Wright–Fisher site frequency spectrum as a perturbation of the coalescent’s," Theoretical Population Biology, Elsevier, vol. 124(C), pages 81-92.
    4. Thomas Beery & K. Ingemar Jönsson & Johan Elmberg, 2015. "From Environmental Connectedness to Sustainable Futures: Topophilia and Human Affiliation with Nature," Sustainability, MDPI, vol. 7(7), pages 1-18, July.

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