Rare and common variations in ASD perturb shared neuronal modules.

<p>(A) Color map showing the different modules in the WGCNA analysis. Below it, heat maps depicting, for each module, the relative risk (RR) for harboring genes with rare mutations (top), the enrichment for low GWAS p-values in the AGRE cohort (center) and the combined enrichment for low GWAS p-values across the three GWAS (bottom). The intensity of the red hue corresponds to higher enrichment of common or rare variants. (B) For each module, the enrichment for low GWAS <i>P</i>-values (−log₁₀<i>P</i>) in the AGRE cohort (top) or combined across the three cohorts (bottom) is plotted against the relative risk for rare mutations. The color of the points corresponds to the names of the modules. (C) The connections in the two neuronal modules enriched for common and rare variations, Lightgreen (left) and Salmon (right), are visualized. Three highly connected genes in each module (hub genes) are shown in red; genes with a gene-wide p-value<0.05 in light blue, and genes with known rare mutations in autism in yellow.