New Results
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O’Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur
doi: https://doi.org/10.1101/030338
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Monkol Lek
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
3School of Paediatrics and Child Health, University of Sydney, Sydney, NSW, Australia
4Institute for Neuroscience and Muscle Research, Childrens Hospital at Westmead, Sydney, NSW, Australia
Konrad J Karczewski
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Eric V Minikel
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
5Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA
Kaitlin E Samocha
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
5Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Eric Banks
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Timothy Fennell
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Anne H O’Donnell-Luria
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
7Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA
James S Ware
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
8Department of Genetics, Harvard Medical School, Boston, MA, USA
9National Heart and Lung Institute, Imperial College London, London, UK
10NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton Hospital, London, UK
11MRC Clinical Sciences Centre, Imperial College London, London, UK
Andrew J Hill
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
12Genome Sciences, University of Washington, Seattle, WA, USA
Beryl B Cummings
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
5Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA
Taru Tukiainen
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Daniel P Birnbaum
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Jack A Kosmicki
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
13Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA
Laramie E Duncan
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Karol Estrada
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Fengmei Zhao
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
James Zou
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Emma Pierce-Hoffman
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Joanne Berghout
14Mouse Genome Informatics, Jackson Laboratory, Bar Harbor, ME, USA
15Center for Biomedical Informatics and Biostatistics, University of Arizona, Tucson, AZ, USA
David N Cooper
16Institute of Medical Genetics, Cardiff University, Cardiff, UK
Nicole Deflaux
17Google Inc, Mountain View, CA, USA
Mark DePristo
18Broad Institute of MIT and Harvard, Cambridge, MA, USA
Ron Do
19Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
20Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
21The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA
22The Center for Statistical Genetics, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Jason Flannick
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
13Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA
Menachem Fromer
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
24Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
19Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
20Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Laura Gauthier
18Broad Institute of MIT and Harvard, Cambridge, MA, USA
Jackie Goldstein
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Namrata Gupta
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Daniel Howrigan
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Adam Kiezun
18Broad Institute of MIT and Harvard, Cambridge, MA, USA
Mitja I Kurki
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
25Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Ami Levy Moonshine
18Broad Institute of MIT and Harvard, Cambridge, MA, USA
Pradeep Natarajan
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
26Harvard Medical School, Boston, MA, USA
27Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
28Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA
Lorena Orozco
29Immunogenomics and Metabolic Disease Laboratory, Instituto Nacional de Medicina Gen—mica, Mexico City, Mexico
Gina M Peloso
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
27Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
28Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA
Ryan Poplin
18Broad Institute of MIT and Harvard, Cambridge, MA, USA
Manuel A Rivas
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Valentin Ruano-Rubio
18Broad Institute of MIT and Harvard, Cambridge, MA, USA
Samuel A Rose
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Douglas M Ruderfer
24Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
19Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
20Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Khalid Shakir
18Broad Institute of MIT and Harvard, Cambridge, MA, USA
Peter D Stenson
16Institute of Medical Genetics, Cardiff University, Cardiff, UK
Christine Stevens
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Brett P Thomas
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Grace Tiao
18Broad Institute of MIT and Harvard, Cambridge, MA, USA
Maria T Tusie-Luna
30Molecular Biology and Genomic Medicine Unit, Instituto Nacional de Ciencias M_dicas y Nutrici—n, Mexico City, Mexico
Ben Weisburd
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Hong-Hee Won
31Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University,Samsung Medical Center, Seoul, Republic of Korea
Dongmei Yu
5Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA
27Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
25Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
32Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
David M Altshuler
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
33Vertex Pharmaceuticals, Boston, MA, USA
Diego Ardissino
34Department of Cardiology, University Hospital, Parma, Italy
Michael Boehnke
35Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA
John Danesh
36Department of Public Health and Primary Care, Strangeways Research Laboratory, Cambridge, UK
Stacey Donnelly
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Roberto Elosua
37Cardiovascular Epidemiology and Genetics, Hospital del Mar Medical Research Institute, Barcelona, Spain
Jose C Florez
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
26Harvard Medical School, Boston, MA, USA
27Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
Stacey B Gabriel
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Gad Getz
18Broad Institute of MIT and Harvard, Cambridge, MA, USA
26Harvard Medical School, Boston, MA, USA
38Department of Pathology and Cancer Center, Massachusetts General Hospital, Boston, MA, USA
Stephen J Glatt
39Psychiatric Genetic Epidemiology & Neurobiology Laboratory, State University of New York,Upstate Medical University, Syracuse, NY, USA
40Department of Psychiatry and Behavioral Sciences, State University of New York, Upstate Medical University, Syracuse, NY, USA
41Department of Neuroscience and Physiology, State University of New York,Upstate Medical University, Syracuse, NY, USA
Christina M Hultman
42Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
Sekar Kathiresan
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
26Harvard Medical School, Boston, MA, USA
27Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
28Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA
Markku Laakso
43Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland
Steven McCarroll
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
8Department of Genetics, Harvard Medical School, Boston, MA, USA
Mark I McCarthy
44Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
45Oxford Centre for Diabetes,Endocrinology and Metabolism, University of Oxford, Oxford, UK
46Oxford NIHR Biomedical Research Centre, Oxford University Hospitals Foundation Trust, Oxford, UK
Dermot McGovern
47Inflammatory Bowel Disease and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA
Ruth McPherson
48Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON, Canada
Benjamin M Neale
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Aarno Palotie
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
5Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA
49Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
Shaun M Purcell
24Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
19Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
20Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Danish Saleheen
50Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
51Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
52Center for Non-Communicable Diseases, Karachi, Pakistan
Jeremiah M Scharf
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
27Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
25Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
32Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
Pamela Sklar
24Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
19Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
20Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
53Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA
54Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Patrick F Sullivan
55Department of Genetics, University of North Carolina, Chapel Hill, NC, USA
56Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
Jaakko Tuomilehto
57Department of Public Health, University of Helsinki, Helsinki, Finland
Ming T Tsuang
58Department of Psychiatry, University of California, San Diego, CA, USA
Hugh C Watkins
59Radcliffe Department of Medicine, University of Oxford, Oxford, UK
44Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
James G Wilson
60Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, USA
Mark J Daly
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Daniel G MacArthur
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Article usage
Posted May 10, 2016.
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O’Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur
bioRxiv 030338; doi: https://doi.org/10.1101/030338
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O’Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur
bioRxiv 030338; doi: https://doi.org/10.1101/030338
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