Figure 2.
Increased rates of short insertions focused on spermatogonial binding sites. Insertion count (A,B) and shifted Z-scores (C,D) of gnomAD singleton and common insertions (5–20 bp), centered around spermatogonial TFBSs. Singletons are seen only once in the gnomAD V.3 data set (allele frequency ≤ 0.001%) and are significantly enriched at binding sites (P < 10−4); common variants have an allele frequency of at least 5% within gnomAD V.3 and are significantly depleted at binding sites (P < 10−4).
