Fig. 3.

Enrichment of rare variants in genes not previously associated with NDDs. Variants not observed in GnomAD or Finnish controls in novel ID genes in cases compared to genetically matched controls (see Methods). Rate in each variant category is first estimated for all novel genes and then after subsetting to only novel high pLI genes. All missense variants are predicted to be deleterious (MPC > 2, see Methods). On the left the number of carriers and total individuals are given and in parenthesis the proportion of carriers. Circles indicate the odds ratio (OR) and lines indicate the 95% confidence interval of the OR. The synonymous variant identification comparison was performed to assess if possible differences in the variant identification rate due to batches/capture differences were adequately controlled. PTV protein truncating variant, CADD Combined Annotation-Dependent Depletion pathogenicity score, pLI probability of loss of function intolerance. Source data are provided as a Source Data file