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

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

View / Open Files

Published version (PDF, 1Mb)

Accepted version (PDF, 2Mb)

Authors

Lek, Monkol

Karczewski, Konrad J

Minikel, Eric V

Samocha, Kaitlin E

Banks, Eric

Fennell, Timothy

O'Donnell-Luria, Anne H

Publication Date

2016-08

Journal Title

Nature

ISSN

0028-0836

Volume

536

Issue

7616

Pages

285-291

Language

eng

Type

Article

This Version

VoR

Physical Medium

Metadata

Show full item record

Citation

Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O'Donnell-Luria, A. H., et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans.. Nature, 536 (7616), 285-291. https://doi.org/10.1038/nature19057

Keywords

Exome Aggregation Consortium, Humans, Rare Diseases, Proteome, Sample Size, DNA Mutational Analysis, Phenotype, Genetic Variation, Exome, Datasets as Topic

Sponsorship

MRC (MR/P02811X/1)

European Commission and European Federation of Pharmaceutical Industries and Associations (EFPIA) FP7 Innovative Medicines Initiative (IMI) (116074)

Cambridge University Hospitals NHS Foundation Trust (CUH) (BRC)

British Heart Foundation (CH/12/2/29428)

MRC (MR/P013880/1)

Ume� University (unknown)

NHS Blood and Transplant (NHSBT) (WP12-01)

EC FP7 CP (279143)

NHS Blood and Transplant (NHSBT) (11-01-GEN)

Cambridge University Hospitals NHS Foundation Trust (CUH) (BRC 2012-2017)

British Heart Foundation (RG/13/13/30194)

MRC (MR/L003120/1)

European Commission (279233)

European Research Council (268834)

MRC (MR/J015709/1)

MRC (MR/J006602/1)

MRC (MR/J006599/1)

MRC (via University of Leicester) (MR/M012816/1)

Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)

British Heart Foundation (RG/16/4/32218)

Cambridge University Hospitals NHS Foundation Trust (CUH) (3819-1617-25)

Department of Health (via National Institute for Health Research (NIHR)) (NIHR BTRU-2014-10024)

Cambridge University Hospitals NHS Foundation Trust (CUH) (3819-1516-29)

Cambridge University Hospitals NHS Foundation Trust (CUH) (unknown)

Identifiers

External DOI: https://doi.org/10.1038/nature19057

This record's URL: https://www.repository.cam.ac.uk/handle/1810/270516

Rights

Attribution 4.0 International

Licence URL: http://creativecommons.org/licenses/by/4.0/

The following licence files are associated with this item:

Creative Commons

Except where otherwise noted, this item's licence is described as Attribution 4.0 International