Autor: Dina Marek-Yagel, Rotem Greenberg, Michal Naftali, Shay Ben Shachar, Ofer Isakov
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Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation Across Multiple Genes
Gene specific variant interpretation guidelines are constantly being published to refine variant classification. The development, implementation and benefit of such guidelines require careful assessment. This study evaluates the utility of these guidel…
