Extended Data Fig. 6: enhancer-gene link.
From: Population-level variation in enhancer expression identifies disease mechanisms in the human brain
a, Scatter plot of pairwise Spearman correlation (SCC) between linked enhancers and genes for the Discovery set (x-axis) and Replicate set (y-axis), the two sets of correlations are highly consistent (SCC = 0.79, P < 10−16, two-sided Spearman correlation test). b, Neuropsychiatric diseases and behavioral traits, neurological diseases, and non-brain related trait enrichment with different classes of genes (determined by MAGMA). For BD and SCZ, we included different GWAS versions including PGC2 SCZ1 (Ncase = 36,989, Ncontrol = 113,075), PGC3 SCZ34 (Ncase = 69,369, Ncontrol = 236,642), PGC2 BD111 (Ncase = 29,764, Ncontrol = 169,118), PGC3 BD5 (Ncase = 41,917, Ncontrol = 371,549). c, Pairwise comparison of the coefficients of significant traits for enhancer-linked neuronal genes (one-sided t-test). The color of the heatmap exhibits the one-sided t-test significance (row vs column).’·’: Nominally significant (P < 0.05);’+’: significant after FDR (Benjamini & Hochberg) correction (FDR < 0.05).
