Extended Data Fig. 6: Excess overlap between top genes contributing to common and low-frequency variant heritability linked to genes and differentially expressed gene sets.
From: Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
We report the excess overlap between 205 differentially expressed gene sets41 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.
