Article
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Genome medicine - 18 Jan 2022
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, Rehm Heidi L, Plon Sharon E, Cherry J Michael, Bustamante Carlos D, Costa Helio A
Abstract excerpt
BACKGROUND: Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comprehensive curation tools necessary for analyzing an individual patient genome and interpreting genetic variants to inform healthcare management have been lacking. RESULTS: Here...
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