Fig. 2: Genetic and clinical features involved in rare genic TREs in schizophrenia.

The burden of (A) rare exon-proximal and (C) rare genic TREs in schizophrenia was analyzed with respect to presence/absence of seven variables (x-axis). Orange and blue colored boxes indicate results for TRE-containing individuals, with and without each of the seven variables, respectively, with vertical bars representing 95% confidence intervals; p values are provided above variables noting significant differences. No individuals with a rare exon-proximal TRE had an early age at onset of schizophrenia. B MAGMA was used to assess the 193 genes with rare TREs detected by our pipeline against proximity (<10 kb) to common risk variants from GWAS studies for schizophrenia, autism spectrum disorder (ASD), attention deficit/hyperactivity disorder (ADHD), educational attainment, and (as a negative control) height (Methods). The dashed red line represents association with p value equal to 0.05.