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

Nature - Tập 536 Số 7616 - Trang 285-291 - 2016
Olle Melander1, Jakub Karczewski1, Eric Vallabh Minikel1, Kaitlin E. Samocha1, Eric Banks2, Timothy R. Fennell2, Anne O’Donnell‐Luria1, James S. Ware2, Andrew T. Hattersley1, Beryl B. Cummings1, Taru Tukiainen1, Daniel P. Birnbaum2, Jack A. Kosmicki1, Laramie E. Duncan1, Karol Estrada2, Fengmei Zhao1, James Zou2, Emma Pierce‐Hoffman2, Joanne Berghout3, D.N. Cooper4, Nicole Deflaux5, Mark A. DePristo6, Ron Do7, Jason Flannick2, Menachem Fromer1, Laura D. Gauthier6, Jack A. Yanovski1, Namrata Gupta2, Daniel P. Howrigan1, Adam Kieżun6, Mitja Kurki2, Ami Levy Moonshine6, Pradeep Natarajan2, Lorena Orozco8, Gina M. Peloso2, Ryan Poplin6, Manuel A. Rivas2, Valentín Ruano-Rubio6, Samuel A. Rose9, Douglas M. Ruderfer7, Khalid Shakir6, Peter D. Stenson4, Christine Stevens2, Thomas Meitinger2, Grace Tiao6, M. Revilla10, Ben Weisburd2, Hong‐Hee Won11, Dongmei Yu9, David Green2, Diego Ardissino12, Michael Boehnke13, John Blangero14, Stacey Donnelly2, Roberto Elosúa15, José C. Florez2, Stacey Gabriel2, Gad Getz6, Stephen J. Glatt16, Christina M. Hultman17, Sekar Kathiresan2, Markku Laakso18, Steven A. McCarroll9, Mark I. McCarthy19, Dermot McGovern20, Ruth McPherson21, Benjamin M. Neale9, Aarno Palotie22, Shaun Purcell7, Danish Saleheen23, Jeremiah M. Scharf9, Pamela Sklar7, Patrick F. Sullivan24, Jaakko Tuomilehto25, Ming T. Tsuang26, Hugh Watkins19, James S. Pankow27, Mark J. Daly9, Daniel G. MacArthur2
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, 02114, Massachusetts, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, 02142, Massachusetts, USA
3Mouse Genome Informatics, Jackson Laboratory, Bar Harbor, 04609, Maine, USA
4Institute of Medical Genetics, Cardiff University, Cardiff, CF10 3XQ, UK
5Google, Mountain View, California, 94043, USA
6Broad Institute of MIT and Harvard, Cambridge, 02142, Massachusetts, USA
7Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, 10029, New York, USA
8Immunogenomics and Metabolic Disease Laboratory, Instituto Nacional de Medicina Genómica, Mexico City, 14610, Mexico
9Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, 02142, Massachusetts, USA
10Molecular Biology and Genomic Medicine Unit, Instituto Nacional de Ciencias Médicas y Nutrición, Mexico City, 14080, Mexico
11Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, South Korea
12Department of Cardiology, University Hospital, Parma, 43100, Italy
13Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, 48109, Michigan, USA
14Department of Public Health and Primary Care, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
15Cardiovascular Epidemiology and Genetics, Hospital del Mar Medical Research Institute, Barcelona, 08003, Spain
16Psychiatric Genetic Epidemiology & Neurobiology Laboratory, State University of New York, Upstate Medical University, Syracuse, 13210, New York, USA
17Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm SE-171 77, Sweden
18Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, 70211, Finland
19Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX1 2JD, UK
20Inflammatory Bowel Disease and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, 90048, California, USA
21Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, K1Y 4W7, Ontario, Canada
22Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, 02115, Massachusetts, USA
23Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, 19104, Pennsylvania, USA
24Department of Genetics, University of North Carolina, Chapel Hill, 27599, North Carolina, USA
25Department of Public Health, University of Helsinki, Helsinki, 00100, Finland
26Department of Psychiatry, University of California, San Diego, 92093, California, USA
27Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, 39216, Mississippi, USA

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Nature

Tập 536 Số 7616

285-291

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