Reporting genomic secondary findings: ACMG members weigh in
نویسندگان
چکیده
منابع مشابه
Clinical exome performance for reporting secondary genetic findings.
BACKGROUND Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genetics and Genomics (ACMG). However, the performance of clinical exome methods for reporting small subsets of genes has not been previously reported. METHODS In this study, 57 exome data sets performed as clinical (n = 12) or resear...
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Introduction The issue of incidental findings in genomics research has been contentious, particularly in whole genome sequencing (WGS) and whole exome sequencing (WES). An incidental or secondary finding has generally been defined as ‘a finding concerning an individual research participant that has potential health or reproductive importance and is discovered in the course of conduct – but is b...
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Michelle L. Thompson, PhD, Candice R. Finnila, PhD, Kevin M. Bowling, PhD, Kyle B. Brothers, MD, PhD, Matthew B. Neu, BS, Michelle D. Amaral, PhD, Susan M. Hiatt, PhD, Kelly M. East, MS, CGC, David E. Gray, MS, James M.J. Lawlor, MS, Whitley V. Kelley, MS, CGC, Edward J. Lose, MD, Carla A. Rich, MA, Shirley Simmons, RN, Shawn E. Levy, PhD1, Richard M. Myers, PhD, Gregory S. Barsh, MD, PhD, E. M...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2014
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2014.165