Case-level data sharing makes a difference in variant classification

Chora, J.R.Tichý, L.Lacocca, M.A.Freiberger, T.Bourbon, M.2022-07-082022-07-082021-05http://hdl.handle.net/10400.18/8109The American College of Medical Genetics and Genomics guidelines for variant classification are composed of several evidence criteria that, when combined, lead to a 5-tier pathogenicity variant classification. Several criteria rely on case-level data from patients, relatives, or controls with or without a particular variant of interest. (...)engFamilial HypercholesterolemiaDoenças Cardio e Cérebro-vascularesCase-level data sharing makes a difference in variant classificationconference object