Fig. 4: Comparison with population variation.
From: Sperm sequencing reveals extensive positive selection in the male germline
a, Exome-wide dN/dS ratio point estimates across different variant sets, including n = 38 biologically independent sperm samples, DNMs from n = 1,886 healthy trios47 and n = 22,742 trios from the DDD cohort33, and population variants from n = 125,748 individuals in gnomAD48, split by allele frequency (AF). Error bars indicate 95% CIs. b, Observed/expected enrichment of missense and LOF (essential splice, nonsense or indel) variants in positively selected genes in sperm (x axis) from dN/dS models versus gnomAD (v.2) LOF z scores. Positive z scores indicate LOF depletion, whereas negative scores indicate excess over expected.
