Figure 4

Distribution of homoplasmic and heteroplasmic variants in LCL and blood subsets. Frequencies of homoplasmic and heteroplasmic variants were normalized to the length of mitochondrial loci, in order to eliminate length biases. Variants distribution across mitochondrial loci shows that generally heteroplasmic and homoplasmic mutations occur in the same loci, and this is verified in both datasets. A statistical relevant difference between the distributions of variants within the two datasets was found for heteroplasmic (p < 0.01), but not for homoplasmic variants.