Article

Large-scale blood mitochondrial genome-wide study provides novel insights into mitochondrial disease-related traits

2023-06-13

Abstract excerpt

<h4>Background/Objectives</h4> Whole genome sequencing (WGS) from large cohorts enables the study of mitochondrial DNA (mtDNA) variation on human health. We aimed to investigate the influence of common, rare, and pathogenic mtDNA variants on 15 mitochondrial disease-related phenotypes. <h4>Methods</h4> Using WGS from 179,862 individuals from in the UK Biobank, we identified mtDNA variants using MitoHPC. We perform...

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Literature Corpus work: 5ac7b339-5a6c-547c-93d3-b724b73c338c
DOI: 10.1101/2023.06.12.23291273

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