Supplementary Figure 1: Expected missense:synonymous ratios across the human allele frequency spectrum in the absence of purifying selection.
From: Predicting the clinical impact of human mutation with deep neural networks
Shaded gray bars represent the number of synonymous variants, and dark green bars represent the number of missense variants. The dotted line shows the baseline formed by synonymous variants. Missense:synonymous ratios are indicated for each allele frequency category. The expected missense and synonymous counts in each allele frequency category were calculated by taking intronic variants from the ExAC/gnomAD dataset consisting of 123,136 exomes and using them to estimate the fraction of variants expected to fall into each of the four allele frequency categories, based on the trinucleotide context of the variant, which controls for mutational rate and GC bias in gene conversion.
