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Article

An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.

Nature genetics - 1 Jul 2021

Yonova-Doing Ekaterina, Calabrese Claudia, Gomez-Duran Aurora, Schon Katherine, Wei Wei, Karthikeyan Savita, Chinnery Patrick F, Howson Joanna M M

Abstract excerpt

Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly due to a lack of genotype calling and quality-control procedures. Developing an at-scale workflow for mtDNA variant analyses, we show correlations between nuclear and mitochondrial genomic structures within subpopulations of Great Britain and establish a UK Biobank reference atlas of mtDNA-phenotype associations. A total of 260...

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Identifiers

PMID: 34002094
DOI: 10.1038/s41588-021-00868-1
PMCID: PMC7611844

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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