Extended Data Figure 7 |. Transmission gene set enrichment.

Odds ratios calculated as ratios of the transmission events of large tandem repeats (99th percentile of length distribution) in particular gene sets to those in intergenic regions. Only affected individuals of European ancestry in a, SSC (N=1,808), b, MSSNG (N=2,010), and c, both SSC and MSSNG (N=3,818) were considered. Gene sets that were enriched from burden analysis of rare tandem repeat expansions between ASD-affected children and unaffected siblings in SSC are labelled. Red bars indicate significant enrichment in ASD-affected individuals (family-wise error rate < 25%). Fisher’s exact test was applied to estimate the odds ratios and 95% confidence intervals indicated by error bars.