Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

IF 8.1 1区生物学 Q1 GENETICS & HEREDITY

American journal of human genetics Pub Date : 2026-05-07 Epub Date: 2026-03-26 DOI:10.1016/j.ajhg.2026.03.016

Marcy E Richardson, Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B Spurdle, Sean V Tavtigian, Colin C Young, Lauren Zec, Susan Hiraki, Michael J Anderson, Logan C Walker, Shannon McNulty, Clare Turnbull, Marc Tischkowitz, Katherine Schon, Thomas Slavin, William D Foulkes, Melissa Cline, Alvaro N Monteiro, Tina Pesaran, Fergus J Couch

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用于种系ATM序列变异分析的ACMG/AMP变异管理指南规范。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American journal of human genetics 生物-遗传学

CiteScore

14.70

自引率

4.10%

发文量

185

审稿时长

1 months

期刊介绍： The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.