Fig. 2
Rate and mutational signatures of mosaic mutations in healthy individuals acquired during embryogenesis. For a and b, the left Y-axis represents the mutational rate per nucleotide, the right Y-axis represents the extrapolated number of mosaic mutations expected in 45-Mbps coding exons, and the dashed red line indicates the mean rate/number between different parameter setting (i.e., different definitions of constitutively expressed genes). a Rate of early-embryonic mosaic mutations (EEMMs) acquired during the first few divisions of the zygote. We estimated a mean rate of EEMMs per base and individual of 8.1164 × 10−9 (CI (95%) = [7.0973 × 10−9 to 9.1292 × 10−9]). b Mid-embryonic mosaic mutations (MEMM) affecting at least 2 tissues. We estimated a mean of 5.1166 × 10−9 MEMMs per nucleotide and individual (CI (95%) = [4.5592 × 10−9 to 5.6740 × 10−9]). c Mutational signatures of early- (EEMMs), mid- (MEMMs), and late-embryonic mosaic mutations (LEMMs)