Supplementary Figure 5: Enrichment of damaging rare variants in genes ordered and grouped by the degree of loss-of-function intolerance in schizophrenia, ASD, and severe neurodevelopmental disorders. | Nature Genetics

Supplementary Figure 5: Enrichment of damaging rare variants in genes ordered and grouped by the degree of loss-of-function intolerance in schizophrenia, ASD, and severe neurodevelopmental disorders.

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

Supplementary Figure 5

(a) Schizophrenia cases compared to controls for rare SNVs and indels. (b) Rates of de novo mutation in schizophrenia, ASD, and severe neurodevelopmental disorder probands as compared to control probands. Genes are ordered by their degree of loss-of-function intolerance (pLI score) and grouped into six categories: the 10% with the highest pLI score, the top 10–20% as ranked by pLI score, 20–40% as ranked by pLI score, and so on. Calculation of the 95% CIs and P values for the trio data followed the same method as in Supplementary Figure 4. A significant enrichment of rare, damaging variants was only observed in the 20% of genes with the highest pLI score, while no signal was observed in the remaining genes. Error bars are 95% CIs of the estimates. Damaging missense, missense variants with CADD Phred > 15.

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