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, Yasemin Alanay, Özden Hatırnaz Ng, 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.
bioRxiv · Jul 11, 2024 · PreprintGenomics