Shiron Drusinsky

Causal variant underestimation is a major overlooked driver of sequence-to-function model underperformance

This work systematically compared predicted effect sizes for fine-mapped eQTLs to nearby putatively non-causal SNVs to demonstrate that causal variant underestimation is a core issue facing S2F expression predictors, with future improvements dependent on better local activity detection and enhancer-gene linking.