Article
Making Sense of Missense: Benchmarking MutScore for Variant Interpretation in Inherited Cardiac Diseases.
Molecular diagnosis & therapy - 1 Jul 2025
Porretta Alessandra Pia, Fressart Véronique, Surget Elodie, Morgat Charles, Bloch Adrien, Messali Anne, Algalarrondo Vincent, Vedrenne Géraldine, Pruvot Etienne, Leenhardt Antoine, Denjoy Isabelle, Extramiana Fabrice
Abstract excerpt
BACKGROUND: Accurate interpretation of genetic variants still represents a major challenge. According to current recommendations from the American College of Medical Genetics and Genomics (ACMG), variant interpretation relies on a comprehensive analysis including, among others, computational data for prediction of variant pathogenicity. However, the predictive accuracy of in silico tools is often limited, and...
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