Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Using a standard burden test for non-ultra-rare variants with minor allele count 10 or less and controlling for covariates, we observed no statistically significant enrichment of disruptive and damaging variants in schizophrenia cases compared to controls ( P = 0.59), wheareas the same test was highly significant when restricted to URVs ( P = 1.7 × 10 −19 , without controlling for exome-wide enrichment) ( Supplementary Table 8 ).

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We observed a nominally significant enrichment in genes overlapping regions near common variants associated with schizophrenia 24 (OR=1.37; 95% CI=1.09–1.73; P = 0.027) ( Fig. 2 ) hinting at some degree of convergence.

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