Extended Data Fig. 3: Inferring the unobserved driver mutation rate using nonsynonymous VAF spectra in Bolton et al.
From: Synonymous mutations reveal genome-wide levels of positive selection in healthy tissues
The best-fit nonsynonymous VAF spectrum based on the distribution of ages in the cohort (n = 4160) includes nonsynonymous developmental contribution estimated by considering sizes of the genomic regions (light purple line, Supplementary note 3B) and possible nonsynonymous passengers (orange dashed lines). (a) Best-fit haploid driver rate of the most commonly mutated gene (DNMT3A) is 2.9 × 10-6 per year based on the DFE defined by equation 18 (Supplementary note 3C). (b) Best-fit haploid driver rate of the top 5 genes (DNMT3A, TET2, PPM1D, SF3B1, ATM) is 4.1 × 10-6 per year. (c) Best-fit haploid driver rate of the top 10 genes (DNMT3A, TET2, PPM1D, SF3B1, ATM, ASXL1, JAK2, TP53, SRSF2, CHEK2) is 4.8 × 10-6 per year. Data are presented as mean values ± sampling error.
