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

@article{YonovaDoing2021AnAO,
  title={An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.},
  author={Ekaterina Yonova-Doing and Claudia Calabrese and Aurora Gomez-Duran and Katherine Schon and Wei Wei and Savita Karthikeyan and Patrick F. Chinnery and Joanna M. M. Howson},
  journal={Nature genetics},
  year={2021}
}
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 mtDNA-phenotype associations were new (P < 1 × 10-5), including rs2853822 /m.8655 C… Expand
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