Figure 3.

Empirical Patterns of Deleterious Protein-Coding Variants Carried by Individuals

(A) The average number of deleterious SNVs, heterozygous genotypes, homozygous genotypes, and derived alleles per individual. The average number of deleterious alleles per individual is small but significantly different between EA and AA individuals.

(B) The average number of deleterious alleles per individual in EA and AA samples as a function of population DAF. The inset bar plots compare the odds that a derived allele is deleterious to the odds that a derived allele is neutral per individual for variants with a DAF ≤ 0.05% (left) and ≥ 99.9% (right) in EA and AA individuals, respectively. Error bars denote the 95% confidence interval of the odds ratio. Note that on average, EA individuals carry significantly more nearly fixed or fixed deleterious alleles than do AA individuals (p = 8.63 × 10⁻¹⁶).