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

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. Bamshad, Exome Sequencing Project Nhlbi and Joshua M. Akey ()
Additional contact information
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
Exome Sequencing Project Nhlbi: *Lists of participants and affiliations appear in the Supplementary Information
Joshua M. Akey: University of Washington

Nature, 2013, vol. 493, issue 7431, 216-220

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.

Date: 2013
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DOI: 10.1038/nature11690

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