Figure 3.
Parallel enrichments of short variants and SV breakpoints at spermatogonial binding sites. Circular permutation results are based on 10,000 permutations; results for singleton variants and de novo mutation are shown. The y-axis shows the ratio of observed over expected variant counts. Mutation categories with significant enrichment are indicated by asterisks: (***) P < 0.001). The type of variant tested and the total number of observed variants overlapping spermatogonial TFBSs are indicated below each bar.
