How do people calculate the percent of mtDNA heteroplasmy?

Does 7% heteroplasmy out of 10 cells, represent a mutation found in the same position on the genome among 700 mtDNA genomes out of 10,000 mtDNA genomes assuming there are 1,000 genomes per cell?

Thanks for helping me understand this concept a little better.


1 Answer 1


I emailed the authors of the paper "Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs" and they confirmed that they calculated the % of mtDNA heteroplasmy by the following: Aligned all mtDNA genomes against the reference sequence. Any deviance at a specific position from the reference was a "mutation". The % heteroplasmy was calculated by dividing the total number of mutations at a certain nucleotide position by the total number of genomes represented at the position multiplied 100. So in other words, to go back to my original question- if there were 10,000 genomes aligned and there were 700 mutations at the same position, that mutation would have 7% heteroplasmy.


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