医学遗传学
外显子组测序
基因组学
背景(考古学)
外显子组
医学
遗传学
生物
基因组
家庭医学
突变
基因
古生物学
作者
David T. Miller,Kristy Lee,Noura S. Abul‐Husn,Laura M. Amendola,Kyle B. Brothers,Wendy K. Chung,Michael H. Gollob,Adam S. Gordon,Steven M. Harrison,Ray E. Hershberger,Teri E. Klein,C. Sue Richards,Douglas R. Stewart,Christa Lese Martin
标识
DOI:10.1016/j.gim.2023.100866
摘要
The American College of Medical Genetics and Genomics (ACMG) previously published guidance for reporting secondary findings (SFs) in the context of clinical exome and genome sequencing.1-5 The ACMG Secondary Findings Working Group (SFWG) and Board of Directors (BODs) have agreed that the list of recommended genes should now be updated annually, but with an ongoing goal of maintaining this as a minimum list. Reporting of SFs should be considered neither a replacement for indication-based diagnostic clinical genetic testing nor a form of population screening.
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