Supplementary Figure 3: Enrichment in schizophrenia cases across ultra-rare variant types
From: Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Observed enrichment in 4,877 schizophrenia cases compared to 6,203 controls for (a) URVs across all annotations, with non-coding including both intronic and untranslated region variants, (b) missense URVs classified as damaging by classifiers PolyPhen-2 HDIV, PolyPhen-2 HVAR, SIFT, LRT, PROVEAN, FATHMM, Mutation Taster, and Mutation Assessor, as well as missense damaging, in-frame indel, protein-protein-contact, splice-acceptor, splice-donor, stop-gained, and frameshift URVs. Enrichment and P values were computed using a linear regression model (left panels) and a logistic regression model (right panels) and correcting for covariates (a) with and (b) without the exclusion of URV individual count. Horizontal bars indicate 95% confidence intervals.
