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From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.

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第一作者： Somak,Roy

第一单位： Cincinnati Children's Hospital, Cincinnati, Ohio.

作者： Somak,Roy ^[1] ; Martine W,Tremblay ^[2] ; Edward,Lockhart ^[3] ; Swaroop,Aradhya ^[4] ; Pinar,Bayrak-Toydemir ^[5] ; Mark,Bowser ^[6] ; Jeana,DaRe ^[4] ; Kristin,Gibson ^[4] ; Michael,Kennemer ^[4] ; Christopher,Krueger ^[7] ; Matt,Lebo ^[6] ; Rong,Mao ^[5] ; Robert,Nussbaum ^[4] ; Brendan,O'Fallon ^[7] ; Andrew,Rosato ^[6] ; Lisa V,Kalman ^[8] ; Birgit,Funke ^[9]

作者单位： Cincinnati Children's Hospital, Cincinnati, Ohio. ^[1] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York. ^[2] Office of Public Health Data, Surveillance, and Technology, Centers for Disease Control and Prevention, Atlanta, Georgia. ^[3] Labcorp Genetics Inc. (formerly Invitae Corp.), San Francisco, California. ^[4] Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah. ^[5] Laboratory of Molecular Medicine, Mass General Brigham, Brigham and Woman's Hospital, Boston, Massachusetts. ^[6] ARUP Laboratories, Salt Lake City, Utah. ^[7] Office of Laboratory Systems and Response, Centers for Disease Control and Prevention, Atlanta, Georgia. ^[8] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address: bfunke01@gmail.com. ^[9]

DOI 10.1016/j.jmoldx.2025.07.006

PMID 40846269

发布时间 2025-09-30

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