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cindylanzao 07-16-2017 08:42 PM

Mitochondrial heteroplasmy level detection
Hi, all

We are currently study mitochondrial genomics, however, find it confusing when try to detect the heteroplasmy level. Can some explain how to detect the heteroplasmy level? Some one said, this level is equal to minor allele frequency, however if it is true, none of the heteroplasmy would be over 50%, which is certainly not true.

Thanks in advance to whom answered my question.

gringer 07-24-2017 06:14 AM

Heteroplasmy can't exceed 50% unless the analysis is done at a haplotype level (i.e. considering multiple variants). For a single bimorphic variant, a heteroplasmy of greater than 50% would imply that the "other" variant was the dominant allele (and therefore heteroplasmy of less than 50%).

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