acmgscaler: Variant Effect Calibration to ACMG/AMP Evidence Strength

Résumé fourni par la source

Provides a function to calibrate variant effect scores against evidence strength categories defined by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines. The method computes likelihood ratios of pathogenicity via kernel density estimation of pathogenic and benign score distributions, and derives score intervals corresponding to ACMG/AMP evidence levels. This enables researchers and clinical geneticists to interpret functional and computational variant scores in a reproducible and standardised manner. For details, see Badonyi and Marsh (2025) .