Analysis of protein-coding genetic variation in 60,706 humans

Lek, Monkol; J. Karczewski, Konrad; Vallabh Minikel, Eric; E. Samocha, Kaitlin; Banks, Eric; R. Fennell, Timothy; O’Donnell‐Luria, Anne; S. Ware, James; Hill, Andrew; B. Cummings, Beryl; Tukiainen, Taru; P. Birnbaum, Daniel; A. Kosmicki, Jack; E. Duncan, Laramie; Estrada, Karol; Zhao, Fengmei; Zou, James; Pierce‐Hoffman, Emma; Berghout, Joanne; Cooper, D.N.; Deflaux, Nicole; A. DePristo, Mark; Do, Ron; Flannick, Jason; Fromer, Menachem; D. Gauthier, Laura; Goldstein, Jackie; Gupta, Namrata; P. Howrigan, Daniel; Kieżun, Adam; Kurki, Mitja; Levy Moonshine, Ami; Natarajan, Pradeep; Orozco, Lorena; M. Peloso, Gina; Poplin, Ryan; A. Rivas, Manuel; Ruano-Rubio, Valentín; A. Rose, Samuel; M. Ruderfer, Douglas; Shakir, Khalid; D. Stenson, Peter; Stevens, Christine; Thomas, Brett; Tiao, Grace; T. Tusie-Luna, Maria; Weisburd, Ben; Won, Hong‐Hee; Yu, Dongmei; Altshuler, David; Ardissino, Diego; Boehnke, Michael; Danesh, John; Donnelly, Stacey; Elosúa, Roberto; C. Florez, José; Gabriel, Stacey; Getz, Gad; J. Glatt, Stephen; M. Hultman, Christina; Kathiresan, Sekar; Laakso, Markku; A. McCarroll, Steven; I. McCarthy, Mark; McGovern, Dermot; McPherson, Ruth; M. Neale, Benjamin; Palotie, Aarno; Purcell, Shaun; Saleheen, Danish; M. Scharf, Jeremiah; Sklar, Pamela; F. Sullivan, Patrick; Tuomilehto, Jaakko; T. Tsuang, Ming; Watkins, Hugh; G. Wilson, James; J. Daly, Mark; G. MacArthur, Daniel

doi:10.1038/nature19057

Public

Analysis of protein-coding genetic variation in 60,706 humans

Published in Nature • Aug 1, 2016

Authors:

Monkol Lek

Konrad J. Karczewski

Eric Vallabh Minikel

Abstract

Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries ge...

Subject

Variation (astronomy)

Genetic variation

Coding (social sciences)

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