Extended Data Figure 4 : Non-coding mutations in exome-positive probands and poorly evolutionarily conserved sites make a minimal contribution to severe developmental disorders.

From: De novo mutations in regulatory elements in neurodevelopmental disorders

Extended Data Figure 4

a, In the 1,691 ‘exome-positive’ probands, there is no evidence for a burden of DNMs in any of the non-coding element classes tested. Red diamonds indicate the observed counts, while black circles and bars indicate the expected count and 95% CI, respectively. b, DNMs in exome-negative probands show a greater degree of evolutionary conservation (measured by PhyloP score) than DNMs in exome-positive probands in two classes: fetal brain-active CNEs (median 1.57 exome-positive, 2.85 exome-negative, n = 368 mutations) and missense changes (median 3.43 exome-positive, 3.98 exome-negative, n = 6,244 mutations).