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 R Schon and Wei Wei and Savita Karthikeyan and Patrick F. Chinnery and Joanna M. M. Howson},
  journal={Nature genetics},
  year={2021},
  volume={53},
  pages={982 - 993}
}
Mitochondrial genome (mtDNA) variation in common diseases has been under-explored, 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 sub-populations of Great Britain and establish a UK Biobank reference atlas of mtDNA-phenotype associations. A total of 260 mtDNA-phenotype associations were novel (P<1x10-5) including, rs2853822/m… Expand
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