Supplementary Figure 2: Quantile–quantile plots of P values from enrichment tests of 1,766 gene sets. | Nature Genetics

Supplementary Figure 2: Quantile–quantile plots of P values from enrichment tests of 1,766 gene sets.

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

Supplementary Figure 2

Top left, case–control SNVs from whole-exome sequence data. Top right, de novo mutations from 1,077 trios. Bottom left, case–control CNVs. Bottom right, meta-analysis P values from Fisher’s method (dark blue). Tailored enrichment tests were applied to each variant type (Online Methods). Each dot represents a different gene set. The 95% CI assuming uniformly distributed P values is displayed as the gray shaded area. The genomic inflation factor (λ) is provided for each distribution. General inflation of P values from tests of disruptive variants (loss-of-function and CNVs) was observed, but no inflation was observed for tests of synonymous variants. Damaging missense, missense variants with CADD Phred > 15.

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