Supplementary Figure 4: Enrichment of de novo mutations in genes with near-complete depletion of truncating variants across schizophrenia and neurodevelopmental disorders. | Nature Genetics

Supplementary Figure 4: Enrichment of de novo mutations in genes with near-complete depletion of truncating variants across schizophrenia and neurodevelopmental disorders.

From: The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

Supplementary Figure 4

In schizophrenia, ASD, and severe neurodevelopmental disorders, de novo mutations were enriched in a subset of genes intolerant of loss-of-function variants, with no excess of polygenic burden in the remaining genes. To generate 95% CIs and P values, the rates of de novo mutations in affected trios (1,077 schizophrenia trios, 4,038 trios with ASD, and 1,133 trios with severe neurodevelopmental disorders) were compared against the rate in unaffected control trios (2,038 trios) using Poisson exact tests. Plotted P values are from the Poisson test of loss-of-function mutations. Damaging missense, missense variants with CADD Phred > 15.

Back to article page