Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

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作者： Christopher,DeBoever ^[1] ; Yosuke,Tanigawa ^[2] ; Malene E,Lindholm ^[1] ; Greg,McInnes ^[3] ; Adam,Lavertu ^[1] ; Erik,Ingelsson ^[1] ; Chris,Chang ^[4] ; Euan A,Ashley ^[3] ; Carlos D,Bustamante ^[5] ; Mark J,Daly ^[1] ; Manuel A,Rivas ^[2]

作者单位： Department of Biomedical Data Science, Stanford University, Stanford, CA, 94305, USA. ^[1] Department of Genetics, Stanford University, Stanford, CA, 94305, USA. ^[2] Grail, Inc., 1525 O'Brien Drive, Menlo Park, CA, 94025, USA. ^[3] Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA. ^[4] Department of Medicine, School of Medicine, Stanford University, Stanford, CA, 94305, USA. ^[5] Analytical and Translational Genetics Unit, Boston, MA, 02114, USA. ^[6] Broad Institute of MIT and Harvard, Cambridge, 02142, MA, USA. ^[7] Department of Biomedical Data Science, Stanford University, Stanford, CA, 94305, USA. mrivas@stanford.edu. ^[8]

主题词数据库, 核酸(Databases, Nucleic Acid);全基因组关联研究(Genome-Wide Association Study);人类(Humans);表型(Phenotype);蛋白质类(Proteins);序列缺失(Sequence Deletion)

DOI 10.1038/s41467-018-03910-9

PMID 29691392

发布时间 2021-01-09

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准确一般字义偏差语意偏离译文作用小提交