Sophie Parsa

Sep 19, 2024 | biorxiv.org | Hilary Finucane |Jeremy Guez |Masahiro Kanai |Sophie Parsa

AbstractVariant scoring methods (VSMs) aid in the interpretation of coding mutations and their potential impact on health, but their evaluation in the context of human genetics applications remains inconsistent. Here, we describe GeneticsGym, a systematic approach to evaluating the real-world impact of VSMs on human genetic analysis across selection regimes.