Variant scoring performance across selection regimes depends on variant-to-gene and gene-to-disease components
HK Finucane, S Parsa, J Guez, M Kanai… - bioRxiv, 2024 - biorxiv.org
Variant 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 …
potential impact on health, but their evaluation in the context of human genetics applications …