AnnotateMissense: a genome-wide annotation and benchmarking framework for missense pathogenicity prediction

ArXi:2605.24520v1 Announce Type: cross Missense variant interpretation remains challenging because pathogenicity depends on heterogeneous evidence from population frequency, evolutionary conservation, transcript context, amino acid substitution severity, prior pathogenicity predictors and protein-language-model-derived features. We present AnnotateMissense, a scalable annotation, benchmarking and genome-wide prediction framework for missense variant interpretation.