Article

Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number

2022-06-27

Abstract excerpt

Inter-individual variation in the number of copies of the mitochondrial genome, termed mitochondrial DNA copy number (mtDNA-CN), reflects mitochondrial function and has been associated with various aging-related diseases. We examined 415,422 exomes of self-reported White ancestry individuals from the UK Biobank and tested the impact of rare variants, both at the level of single variants and through aggregate varia...

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Literature Corpus work: 49afcd5f-b240-5ce7-80dc-686aa42a2eaf
DOI: 10.1101/2022.06.22.22276774

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