Article

Automating ACMG Variant Classifications Using BIAS-2015: An Algorithm Overview and Benchmark Against the FDA-Approved eRepo Dataset

2024-09-19

Abstract excerpt

In 2015, the American College of Medical Genetics and Genomics (ACMG) in collaboration with the Association of Molecular Pathologists (AMP) published guidelines for the interpretation and classification of germline genomic variants. The ACMG terminology guidelines outlined criteria for assigning one of five categories: benign, likely benign, uncertain significance, likely pathogenic and pathogenic. While the paper...

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Literature Corpus work: 458ffaef-744d-5214-9d36-cf0b5cb1e761
DOI: 10.1101/2024.09.18.24313916

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