Acmgscaler: an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework.

ABSTRACT:

Motivation

A genome-wide variant effect calibration method was recently developed under the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP), following ClinGen recommendations for variant classification. While genome-wide approaches offer clinical utility, emerging evidence highlights the need for gene- and context-specific calibration to improve accuracy. Building on previous work, we have developed an algorithm tailored to converting functional scores from both multiplexed assays of variant effects (MAVEs) and computational variant effect predictors (VEPs) into ACMG/AMP evidence strengths.

Results

Our method is designed to deliver consistent performance across different genes and score distributions,

SUBMITTER: Badonyi M 

PROVIDER: S-EPMC12496131 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature