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Harmonizing variant classification for return of results in the All of Us Research Program.

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第一作者： Steven M,Harrison

第一单位： Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

作者： Steven M,Harrison ^[1] ; Christina A,Austin-Tse ^[2] ; Serra,Kim ^[3] ; Matthew,Lebo ^[4] ; Annette,Leon ^[3] ; David,Murdock ^[5] ; Aparna,Radhakrishnan ^[6] ; Brian H,Shirts ^[6] ; Marcie,Steeves ^[4] ; Eric,Venner ^[5] ; Richard A,Gibbs ^[5] ; Gail P,Jarvik ^[6] ; Heidi L,Rehm ^[7]

作者单位： Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. ^[1] Laboratory for Molecular Medicine, Mass General Brigham, Boston, Massachusetts, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA. ^[2] Color Health, Burlingame, California, USA. ^[3] Laboratory for Molecular Medicine, Mass General Brigham, Boston, Massachusetts, USA. ^[4] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. ^[5] University of Washington Medical Center, Seattle, Washington, USA. ^[6] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA. ^[7]

关键词 All of Us Research Program data sharing variant classification

医学主题词基因检测(Genetic Testing);遗传变异(Genetic Variation);基因组, 人(Genome, Human);基因组学(Genomics);人类(Humans);美国(United States)

DOI 10.1002/humu.24317

PMID 34923710

发布时间 2022-10-20

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