NUMT Confounding Biases Mitochondrial Heteroplasmy Calls in Favor of the Reference Allele

NUMT Confounding Biases Mitochondrial Heteroplasmy Calls in Favor of the Reference Allele

Homology between mitochondrial DNA (mtDNA) and nuclear DNA of mitochondrial origin (nuMTs) causes confounding when aligning short sequence reads to the reference human genome, as the true sequence origin cannot be determined. Using a systematic in silico approach, we here report the impact of all po...

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Bibliographic Details
Main Authors: Hannah Maude, Mira Davidson, Natalie Charitakis, Leo Diaz, William H. T. Bowers, Eva Gradovich, Toby Andrew, Derek Huntley
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
nuMT
mtDNA
genotype
mitochondrial variants
mitochondrial genotype
NGS
Online Access:https://www.frontiersin.org/article/10.3389/fcell.2019.00201/full

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