Extended Data Fig. 4: Features of Het_FE variants and caVAF.

a, A diagram showing the classification of shared mtDNA alterations, with respective variant counts in parentheses. b, The region preference of Het_FE variants to PZ_simple mutations. The y axis indicates the log₂-transformed ratio of the prevalence of the Het_FE variant to PZ_simple mutation. c, A schematic diagram illustrating caVAF calculation using clone-VAFs within an individual. The gray box contains clone-VAFs of the Het_FE variant. d, The relationship between initial VAF and caVAF from computational simulations. Simulated caVAFs were calculated using 100 simulated cells, with 1,000 iterations per mitotic turnover and initial VAF. Circles and vertical lines denote average caVAF values and 95% confidence intervals. e,f, Scatter plots comparing VAFs from bulk tissues between monozygotic twins (e) and within one twin (f). The gray lines represent the diagonal line y = x. Pearson’s correlation coefficient and P value are presented. Two-sided Pearson’s correlation. g, A scatter plot depicting the VAF of mtDNA variants in 407 mother–offspring pairs. The gray lines represent the diagonal line y = x.