Fig. 2: Significant genes identified from mutation burden and de novo enrichment analyses.
From: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
a Mutation burden analysis identified 48 genes significant for LGD and/or MIS30 variants in smMIP sequencing compared with the ExAC (r0.3) non-psych subset controls; each dot indicates a gene and the color indicates the category of variant showing significance for the gene (red for LGD, blue for MIS30, and black for both LGD and MIS30). b The CH model and denovolyzeR show high concordance for genes with significant excess of DNM at both FDR and FWER levels. c A union set of 90 genes showing excess DNM (FDR 5%) in de novo enrichment analysis. Gray dashed box in top panel is shown in bottom panel for a zoom view. See Supplementary Data 10 for underlying data.
