Performance of AlphaMissense and Other In Silico Predictors to Determine Pathogenicity of Missense Variants in Sarcomeric Genes.

Ruiz, MarioOchoa, Juan PabloMigoyo-Bettoni, Candelade la Barrera, JorgeDelrio-Lorenzo, AlbaFernández-Rojo, Manuel AMartinez-Martin, InesAlegre-Cebollada, JorgeLara-Pezzi, EnriqueSanchez-Cabo, FatimaGarcia-Pavia, Pablo2025-12-112025-12-112025-04Circ Genom Precis Med. 2025 Apr;18(2):e004922.https://hdl.handle.net/20.500.12105/27012The Centro Nacional de Investigaciones Cardiovasculares (CNIC) is supported by the Instituto de Salud Carlos III, the Ministerio de Ciencia e Innovación, and the Pro CNIC Foundation, and is a Severo Ochoa Center of Excellence (grant CEX2020-001041-S funded by MICIN/AEI/10.13039/501100011033). Drs Garcia-Pavia and Lara-Pezzi are funded by the Pathfinder Cardiogenomics programme of the European Innovation Council of the European Union (DCM-NEXT project; project number: 101115416). Dr Alegre-Cebollada acknowledges funding from the Ministerio de Ciencia, Innovación y Universidades (MCIU, MICIU/AEI/10.13039/501100011033) through grant PID2020-120426GB-I00. Dr Sanchez-Cabo acknowledges funding from the Ministerio de Ciencia, Innovación y Universidades (MCIU, MICIU/AEI/10.13039/501100011033) and European Region Development Fund through grant PID2022-141527OB-I00.engAMhttp://creativecommons.org/licenses/by-nc-nd/4.0/amino acidscardiomyopathiescomputational biologydeep learningin silico modelsPerformance of AlphaMissense and Other In Silico Predictors to Determine Pathogenicity of Missense Variants in Sarcomeric Genes.Attribution-NonCommercial-NoDerivatives 4.0 International4011599518(2)CIRCULATION-GENOMIC AND PRECISION MEDICINEopen access