Fig. 4: Modified transmission disequilibrium test identifies MAGEC3 as a high-confidence ASD risk gene.
From: Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD
We conducted gene discovery within the risk-enriched regions (RERs) using a modified transmission disequilibrium test for rare damaging variants. As a control, we also conducted gene discovery in the non-enriched regions (NERs). In each case, we created a quantile-quantile plot comparing the distribution of P values to a uniform distribution (red diagonal line). Chr X non-pseudoautosomal region (Chr X non-PAR) and exome-wide significances are indicated with blue and red horizontal dashed lines, respectively. 95% confidence intervals are shown with black dashed lines. The red dot signifies the only exome-wide significant gene. Genes outside the 95% CI but not significant after correction are labeled. See also Supplementary Tables 4–5.
