Article

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

2025-05-21

Abstract excerpt

<h4>Summary</h4> 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 calibratio...

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Literature Corpus work: 0e7a23a2-53ed-5982-a5cf-ddfd09859e4a
DOI: 10.1101/2025.05.16.654507

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