第一作者:
Sanna,Gudmundsson
第一单位:
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.
作者:
Sanna,Gudmundsson [1]
;
Konrad J,Karczewski [2]
;
Laurent C,Francioli [3]
;
Grace,Tiao [3]
;
Beryl B,Cummings [4]
;
Jessica,Alföldi [3]
;
Qingbo,Wang [5]
;
Ryan L,Collins [6]
;
Kristen M,Laricchia [3]
;
Andrea,Ganna [7]
;
Daniel P,Birnbaum [3]
;
Laura D,Gauthier [8]
;
Harrison,Brand [9]
;
Matthew,Solomonson [3]
;
Nicholas A,Watts [3]
;
Daniel,Rhodes [10]
;
Moriel,Singer-Berk [3]
;
Eleina M,England [3]
;
Eleanor G,Seaby [3]
;
Jack A,Kosmicki [5]
;
Raymond K,Walters [11]
;
Katherine,Tashman [11]
;
Yossi,Farjoun [8]
;
Eric,Banks [8]
;
Timothy,Poterba [11]
;
Arcturus,Wang [11]
;
Cotton,Seed [11]
;
Nicola,Whiffin [12]
;
Jessica X,Chong [13]
;
Kaitlin E,Samocha [14]
;
Emma,Pierce-Hoffman [3]
;
Zachary,Zappala [15]
;
Anne H,O'Donnell-Luria [16]
;
Eric Vallabh,Minikel [17]
;
Ben,Weisburd [8]
;
Monkol,Lek [18]
;
James S,Ware [19]
;
Christopher,Vittal [20]
;
Irina M,Armean [3]
;
Louis,Bergelson [8]
;
Kristian,Cibulskis [8]
;
Kristen M,Connolly [21]
;
Miguel,Covarrubias [8]
;
Stacey,Donnelly [17]
;
Steven,Ferriera [21]
;
Stacey,Gabriel [21]
;
Jeff,Gentry [8]
;
Namrata,Gupta [22]
;
Thibault,Jeandet [8]
;
Diane,Kaplan [8]
;
Christopher,Llanwarne [8]
;
Ruchi,Munshi [8]
;
Sam,Novod [8]
;
Nikelle,Petrillo [8]
;
David,Roazen [8]
;
Valentin,Ruano-Rubio [8]
;
Andrea,Saltzman [17]
;
Molly,Schleicher [17]
;
Jose,Soto [8]
;
Kathleen,Tibbetts [8]
;
Charlotte,Tolonen [8]
;
Gordon,Wade [8]
;
Michael E,Talkowski [23]
;
Genome Aggregation Database Consortium [11]
;
Benjamin M,Neale [24]
;
Mark J,Daly [25]
;
Daniel G,MacArthur
作者单位:
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.
[1]
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.
[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.
[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 Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.
[4]
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.
[5]
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.
[6]
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.
[7]
Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[8]
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.
[9]
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.
[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.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[11]
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.
[12]
Department of Pediatrics, University of Washington, Seattle, WA, USA.
[13]
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
[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.;Vertex Pharmaceuticals Inc, Boston, MA, USA.
[15]
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.
[16]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[17]
Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
[18]
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.
[19]
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.
[20]
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.;Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[22]
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.
[23]
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.
[24]
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.
[25]
DOI
10.1038/s41586-021-03758-y
PMID
34373650
发布时间
2024-02-14
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