Article
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2022
Chin Hui-Lin, Gazzaz Nour, Huynh Stephanie, Handra Iulia, Warnock Lynn, Moller-Hansen Ashley, Boerkoel Pierre, Jacobsen Julius O B, du Souich Christèle, Zhang Nan, Shefchek Kent, Prentice Leah M, Washington Nicole, Haendel Melissa, Armstrong Linlea, Clarke Lorne, Li Wenhui Laura, Smedley Damian, Robinson Peter N, Boerkoel Cornelius F
Abstract excerpt
PURPOSE: Genomic test results, regardless of laboratory variant classification, require clinical practitioners to judge the applicability of a variant for medical decisions. Teaching and standardizing clinical interpretation of genomic variation calls for a methodology or tool. METHODS: To generate such a tool, we distilled the Clinical Genome Resource framework of causality and the American College of Medical...
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