Fig. 2

Enrichment of non-synonymous DNM from patients with neurodevelopmental disease. a Statistical significance of over-representation of DNM in cases compared to controls for all modules. For each co-expression module obtained from consensus WGCNA (circle, n = 34) and DiffCoEx (plus symbol, n = 13), the enrichment was tested adopting FET (see ‘Methods’). Each dot represents a module and its significance of enrichment in non-synonymous DNMs (consisting of all missense, nonsenses, and splice-site mutations) is reported on the y-axis. The over-representation of DNM in cases compared to controls was calculated for several phenotypes: ASD (4186 trios, dark blue dots), SCZ (1004 trios, light blue dots), congenital abnormalities of the DDD study (1133 trios, grey dots), across four neurodevelopmental disorders consisting of EE, ID, ASD and SCZ (combined, 5738 trios, green dots), ID (192 trios, orange dots) and EE (356 trios, red dots). b Enrichment of non-synonymous DNM from patients with neurodevelopmental disease in M30 module. P value, OR and 95% CI are reported for M30 and all genes expressed in the UKBEC samples (background). In the forest plot, the magnitude of the ORs are represented by the area of the circles and the 95% CI by horizontal lines