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Article

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

Bioinformatics (Oxford, England) - 2 Oct 2025

Badonyi Mihaly, Marsh Joseph A

Abstract excerpt

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...

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Topics

Software
Algorithms
Humans
Calibration
Genomics
Genetic Variation

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Identifiers

PMID: 40929116
DOI: 10.1093/bioinformatics/btaf503
PMCID: PMC12496131

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