医学遗传学
外显子组测序
外显子组
基因组学
语句(逻辑)
医学
家庭医学
计算生物学
遗传学
生物
基因组
突变
基因
政治学
法学
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,Carolyn Sue Richards,Douglas R. Stewart,Christa Lese Martin
标识
DOI:10.1016/j.gim.2022.04.006
摘要
The American College of Medical Genetics and Genomics (ACMG) previously published guidance for reporting secondary findings (SF) in the context of clinical exome and genome sequencing in 2013, 2017, and 2021.1-3 The ACMG Secondary Findings Working Group (SFWG) and Board of Directors (BOD) 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 SF should be considered neither a replacement for indication-based diagnostic clinical genetic testing nor a form of population screening.
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