BioinformaticsbioRxivPreprint
Gene identity, not variant effect, dominates ClinVar benchmarks of missense pathogenicity predictors
Saad Harrizi, Imane Nait Irahal, Mostafa Kabine, Damien Arnoult
The paper evaluates missense pathogenicity predictors using ClinVar data, finding that gene identity, not variant effect, largely drives benchmark performance.
DOI 10.64898/2026.08.21.746180