Extended Data Figure 6: Excess overlap between top genes contributing to common and low-frequency variant heritability linked to genes and differentially expressed gene sets.

We report the excess overlap between 205 differentially expressed gene sets⁵⁶ and the top 200 genes contributing to common and low-frequency variants heritability linked to genes across 16 independent UK Biobank traits. Each dot represents a differentially expressed gene set, and is colored by the tissue category. We generally observed excess overlap for disease-critical tissues/cell types. We observed high correlations between excess overlaps for common vs. low-frequency variant architectures, suggesting that common and low-frequency variants architectures are driven by different genes pertaining to similar biological processes.