换一批
第一作者：
Siwei,Chen
第一单位：
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. siwei@broadinstitute.org.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. siwei@broadinstitute.org.
作者：
Siwei,Chen [1]
;
Laurent C,Francioli [2]
;
Julia K,Goodrich [3]
;
Ryan L,Collins [4]
;
Masahiro,Kanai [2]
;
Qingbo,Wang [5]
;
Jessica,Alföldi [2]
;
Nicholas A,Watts [2]
;
Christopher,Vittal [2]
;
Laura D,Gauthier [6]
;
Timothy,Poterba [7]
;
Michael W,Wilson [2]
;
Yekaterina,Tarasova [3]
;
William,Phu [8]
;
Riley,Grant [3]
;
Mary T,Yohannes [3]
;
Zan,Koenig [9]
;
Yossi,Farjoun [10]
;
Eric,Banks [6]
;
Stacey,Donnelly [11]
;
Stacey,Gabriel [12]
;
Namrata,Gupta [13]
;
Steven,Ferriera [12]
;
Charlotte,Tolonen [6]
;
Sam,Novod [6]
;
Louis,Bergelson [6]
;
David,Roazen [6]
;
Valentin,Ruano-Rubio [6]
;
Miguel,Covarrubias [6]
;
Christopher,Llanwarne [6]
;
Nikelle,Petrillo [6]
;
Gordon,Wade [6]
;
Thibault,Jeandet [6]
;
Ruchi,Munshi [6]
;
Kathleen,Tibbetts [6]
;
Genome Aggregation Database Consortium [14]
;
Anne,O'Donnell-Luria [2]
;
Matthew,Solomonson [9]
;
Cotton,Seed [7]
;
Alicia R,Martin [15]
;
Michael E,Talkowski [16]
;
Heidi L,Rehm [17]
;
Mark J,Daly [2]
;
Grace,Tiao [2]
;
Benjamin M,Neale [18]
;
Daniel G,MacArthur [19]
;
Konrad J,Karczewski
作者单位：
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. siwei@broadinstitute.org.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. siwei@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.
[3]
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.;Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.
[4]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
[5]
Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, 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.;Stanley Center for Psychiatric Research, 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.;Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
[8]
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.
[9]
Richards Lab, Lady Davis Institute, Montreal, Quebec, Canada.
[10]
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[11]
Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[12]
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.
[13]
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.;Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
[14]
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.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[15]
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.
[16]
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 (FIMM), Helsinki, Finland.
[17]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.;Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
[18]
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.;Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.
[19]
医学主题词
人类(Humans);信息获取(Access to Information);数据库, 遗传学(Databases, Genetic);基因频率(Gene Frequency);基因组, 人(Genome, Human);基因组学(Genomics);模型, 遗传学(Models, Genetic);突变(Mutation);遗传选择(Selection, Genetic)
DOI
10.1038/s41586-023-06045-0
PMID
38057664
发布时间
2025-05-30
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Nature
Nature
92-100页
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