Supplementary Figure 1: Comparison of de novo variation rates in ASD and ID/DD.
From: Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
a,b, The plots compare DNM rates for genes for patients from ASD (n = 5,624 independent samples) and ID/DD (n = 5,303 independent samples) studies included in our combined analysis. More than 75% of genes show DNM in both ASD and DD patients. We identify four LGD genes (ARID1B, ANDKRD11, KMT2A, DDX3X) (a) and one missense gene (KCNQ2) (b) that are biased for an ID/DD diagnosis at a q-value threshold of 0.1 (one-tailed Fisher’s exact test). Additional candidates for phenotypic bias at nominal significance (dashed lines at P = 0.05, one-tailed Fisher’s exact test) were also identified. Larger cohorts will be needed to confirm gene biases, especially with respect to ASD.
