ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines
Preston Christine G.,Wright Matt W.,Madhavrao Rao,Harrison Steven M.,Goldstein Jennifer L.,Luo Xi,Wand Hannah,Wulf Bryan,Cheung Gloria,Mandell Mark E., Tong Howard, Cheng Shaung,Iacocca Michael A.,Pineda Arturo Lopez,Popejoy Alice B.,Dalton Karen,Zhen Jimmy,Dwight Selina S.,Babb Lawrence,DiStefano Marina,O’Daniel Julianne M.,Lee Kristy,Riggs Erin R.,Zastrow Diane B.,Mester Jessica L.,Ritter Deborah I.,Patel Ronak Y.,Subramanian Sai Lakshmi,Milosavljevic Aleksander,Berg Jonathan S.,Massachusetts General Hospital,Plon Sharon E.,Cherry J. Michael,Bustamante Carlos D.,Costa Helio A. Genome Medicine（2022）
关键词
Variant curation,Precision medicine,Clinical genetics,Clinical Genome Resource Consortium
AI 理解论文
溯源树
样例
