GenomicsbioRxivPreprint
A New Era in Missense Variant Analysis: Statistical Insights and the Introduction of VAMPP-Score for Pathogenicity Assessment
Eylul Aydin, Berk Ergun, Özlem Akgün Doğan…·Özkan Özdemir
This paper evaluates 52 in silico pathogenicity predictors (ISPPs) for missense variants and introduces VAMPP-score, a statistical framework that improves variant classification by integrating the best-performing predictors.