Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans.

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作者： Donate,Weghorn ^[1] ; Daniel J,Balick ^[2] ; Christopher,Cassa ^[3] ; Jack A,Kosmicki ^[1] ; Mark J,Daly ^[2] ; David R,Beier ^[1] ; Shamil R,Sunyaev ^[2]

作者单位： Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA. ^[1] Department of Biomedical Informatics, Harvard Medical School, Boston, MA. ^[2] Centre for Genomic Regulation and Universitat Pompeu Fabra, Barcelona, Spain. ^[3] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA. ^[4] Program in Medical and Population Genetics, Broad Institute, Cambridge, MA. ^[5] Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA. ^[6] Department of Pediatrics, University of Washington School of Medicine, Seattle, WA. ^[7]

关键词 genetic drift protein-truncating variants selection inference

主题词密码子, 无义(Codon, Nonsense);遗传漂变(Genetic Drift);人类(Humans);模型, 遗传学(Models, Genetic);人口增长(Population Growth);遗传选择(Selection, Genetic)

DOI 10.1093/molbev/msz092

PMID 31004148

发布时间 2022-04-29

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