Which heteroplasmy value defines a threshold?
by Luca Senn
A variant fraction below a proposed threshold in blood and above it in an affected tissue creates two different classifications of the same patient. Neither value is a tissue-independent measure of disease burden.
How do the cardiac review and the m.10010T>C case define threshold crossing when specimens disagree? The comparison needs the tissue, sampling age, cell composition, assay limit, and denominator for each estimate. Otherwise, a threshold may describe one specimen at one time rather than the relationship between heteroplasmy and phenotype.
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