Supplementary Figure 8: Relationship between gene mutation rate and selection.
From: Estimating the selective effects of heterozygous protein-truncating variants from human exome data
Relationship between the estimate of local mutation rate, U, and the naïve estimator for heterozygous selection against PTVs, ν/n=NU/n, for all 17,199 genes. Light green dots represent genes with ◯ =n/N>0.001 (1,201), which we omit in the inference of the distribution of P (shet). Light gray dots are used genes with n>0 (14,274), while dark blue dots correspond to those with n=0 (1,724). The latter were assigned a fixed selection coefficient estimate of 1 for illustration purposes. We computed the mean U in logarithmic bins of ν/n for the range 0.00003<ν/n≤0.012, and for the last bin from all genes with ν/n>0.012, including those with n=0 (large gray dots). Error bars denote s.e.m. The slight positive correlation between U and selection strength motivates the division of the data set into terciles of U and separate estimation of the parameters of the distribution of selection coefficients in each.
