Fig. 5.

De novo variants identified in 31,058 parent-proband trios reveal seven genes associated with developmental disorders at genome-wide significance for the first time in the full DD cohort (a) and the previously undiagnosed subset (b). Four of these genes have been previously curated as DD genes on the basis of other lines of evidence, and are already included in the G2P database as established Developmental Disorder genes (blue), while three genes represent new candidate DD genes (red). Numbers of constrained missense DNMs classified by HMC and protein-truncating DNMs were compared. The newly significant associated genes likely act through altered function mechanisms as there are more constrained missense variants than PTVs