Article

The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort

2022-10-22

Abstract excerpt

Mitochondrial DNA copy number (mtCN) is often treated as a proxy for mitochondrial (dys)function and disease risk. Pathological changes in mtCN are common symptoms of rare mitochondrial disorders but reported associations between mtCN and common diseases vary considerably across studies. We sought to understand the biology of mtCN by carrying out genome and phenome-wide association studies of mtCN in 30,666 indivi...

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Literature Corpus work: 47112e0c-3977-52f6-91e4-3943114ebbaf
DOI: 10.1101/2022.10.21.22281387

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