Automating ACMG variant classifications with BIAS-2015 v2.1.1: algorithm analysis and benchmark against the FDA-approved eRepo dataset.

Abstract excerpt

BACKGROUND: In 2015, the American College of Medical Genetics and Genomics (ACMG), in collaboration with the Association of Molecular Pathologists (AMP), published guidelines for interpreting and classifying germline genomic variants. These guidelines defined five categories: benign, likely benign, uncertain significance, likely pathogenic, and pathogenic, with 28 criteria but no specific implementation...

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