From Mutations to Disease: Computational Analysis and Interpretation of GPCR-Associated Pathogenicity
João Paulo Linhares Velloso, Alex G. C. de Sá, David Benjamin Ascher
This study evaluates pathogenicity predictors for GPCR mutations using ClinVar and MutHTP datasets, finding reliable performance on ClinVar but poor performance on MutHTP, and identifies key mutation characteristics linked to disease.
bioRxiv · Jun 17, 2024 · PreprintBioinformatics