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Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project.

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第一作者： Emma,Wilcox

第一单位： Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

作者： Emma,Wilcox ^[1] ; Steven M,Harrison ^[1] ; Edward,Lockhart ^[2] ; Karl,Voelkerding ^[3] ; Ira M,Lubin ^[4] ; ClinGen Expert Panels ^[5] ; Heidi L,Rehm ^[6] ; Lisa V,Kalman ^[7] ; Birgit,Funke

作者单位： Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts. ^[1] Informatics and Data Science Branch, Division of Laboratory Systems, Centers for Disease Control and Prevention, Atlanta, Georgia. ^[2] Voelkerding Consulting, Salt Lake City, Utah. ^[3] Quality and Safety Systems Branch, Division of Laboratory Systems, Centers for Disease Control and Prevention, Atlanta, Georgia. ^[4] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts. ^[5] Informatics and Data Science Branch, Division of Laboratory Systems, Centers for Disease Control and Prevention, Atlanta, Georgia. Electronic address: lkalman@cdc.gov. ^[6] Division of Genomic Health, Sema4, Stamford, Connecticut. ^[7]