换一批
换一批
第一作者：
Konrad J,Karczewski
第一单位：
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org.
作者：
Konrad J,Karczewski [1]
;
Laurent C,Francioli [2]
;
Grace,Tiao [2]
;
Beryl B,Cummings [3]
;
Jessica,Alföldi [2]
;
Qingbo,Wang [4]
;
Ryan L,Collins [5]
;
Kristen M,Laricchia [2]
;
Andrea,Ganna [6]
;
Daniel P,Birnbaum [2]
;
Laura D,Gauthier [7]
;
Harrison,Brand [8]
;
Matthew,Solomonson [2]
;
Nicholas A,Watts [2]
;
Daniel,Rhodes [9]
;
Moriel,Singer-Berk [2]
;
Eleina M,England [2]
;
Eleanor G,Seaby [2]
;
Jack A,Kosmicki [4]
;
Raymond K,Walters [10]
;
Katherine,Tashman [10]
;
Yossi,Farjoun [7]
;
Eric,Banks [7]
;
Timothy,Poterba [10]
;
Arcturus,Wang [10]
;
Cotton,Seed [10]
;
Nicola,Whiffin [11]
;
Jessica X,Chong [12]
;
Kaitlin E,Samocha [13]
;
Emma,Pierce-Hoffman [2]
;
Zachary,Zappala [14]
;
Anne H,O'Donnell-Luria [15]
;
Eric Vallabh,Minikel [16]
;
Ben,Weisburd [7]
;
Monkol,Lek [17]
;
James S,Ware [18]
;
Christopher,Vittal [19]
;
Irina M,Armean [2]
;
Louis,Bergelson [7]
;
Kristian,Cibulskis [7]
;
Kristen M,Connolly [20]
;
Miguel,Covarrubias [7]
;
Stacey,Donnelly [16]
;
Steven,Ferriera [20]
;
Stacey,Gabriel [20]
;
Jeff,Gentry [7]
;
Namrata,Gupta [21]
;
Thibault,Jeandet [7]
;
Diane,Kaplan [7]
;
Christopher,Llanwarne [7]
;
Ruchi,Munshi [7]
;
Sam,Novod [7]
;
Nikelle,Petrillo [7]
;
David,Roazen [7]
;
Valentin,Ruano-Rubio [7]
;
Andrea,Saltzman [16]
;
Molly,Schleicher [16]
;
Jose,Soto [7]
;
Kathleen,Tibbetts [7]
;
Charlotte,Tolonen [7]
;
Gordon,Wade [7]
;
Michael E,Talkowski [22]
;
Genome Aggregation Database Consortium [10]
;
Benjamin M,Neale [23]
;
Mark J,Daly [24]
;
Daniel G,MacArthur
作者单位：
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org.
[1]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
[2]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.
[3]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.
[4]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
[5]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Institute for Molecular Medicine Finland, Helsinki, Finland.
[6]
Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[7]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
[8]
Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London and Barts Health NHS Trust, London, UK.
[9]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[10]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.;Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK.
[11]
Department of Pediatrics, University of Washington, Seattle, WA, USA.
[12]
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
[13]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Vertex Pharmaceuticals Inc, Boston, MA, USA.
[14]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.;Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
[15]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[16]
Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
[17]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.;Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK.
[18]
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[19]
Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[20]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[21]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.;Department of Neurology, Harvard Medical School, Boston, MA, USA.
[22]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Institute for Molecular Medicine Finland, Helsinki, Finland.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[23]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. d.macarthur@garvan.org.au.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. d.macarthur@garvan.org.au.;Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia. d.macarthur@garvan.org.au.;Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. d.macarthur@garvan.org.au.
[24]
DOI
10.1038/s41586-020-03174-8
PMID
33536625
发布时间
2022-07-16
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Nature
Nature
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