Figure 7.
Neural enhancers with activity in spermatogonia suffer elevated mutation rates. (A,B) Singleton DDD deletion breakpoint (A) and singleton gnomAD insertion (B; 5–20 bp) count around brain active enhancers. Enhancers were classified as being also active in spermatogonia (red) or inactive in spermatogonia (blue). Plotted is the average number of variants per brain enhancer: in 5-kb windows or 100-bp windows, respectively. In B, only 10-kb regions around enhancers with ≥95% unique mappability (umap24 scores) were included (3409 brain enhancers that are inactive in spermatogonia and 1029 that are active).
