GenomicsbioRxivPreprint
Dynamics of the most common pathogenic mtDNA variant m.3243A>G demonstrate frequency-dependency in blood and positive selection in the germline.
Melissa Franco, Sarah J. Pickett, Zoë Fleischmann…·Konstantin Khrapko
This paper shows that the m.3243A>G mtDNA mutation levels in blood change in a bi-phasic way with age, requiring an age correction dependent on mutation level, and finds evidence for positive germline selection of this mutation.
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