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q-bio.GN2026
AnnotateMissense: a genome-wide annotation and benchmarking framework for missense pathogenicity prediction
Muhammad Muneeb, David B. Ascher
Missense variant interpretation remains challenging because pathogenicity depends on heterogeneous evidence from population frequency, evolutionary conservation, transcript context…
q-bio.GN2026
Benchmarking Heritability Estimation Strategies Across 86 Configurations and Their Downstream Effect on Polygenic Risk Score Performance
Muhammad Muneeb, David B. Ascher
Objective: SNP heritability estimates vary substantially across estimation strategies, yet the downstream consequences for polygenic risk score (PRS) construction remain poorly cha…