Article

Nanopore sequencing identifies a higher frequency and expanded spectrum of mitochondrial DNA deletion mutations in human aging

2022-12-05

Abstract excerpt

<h4>Background</h4> Mitochondrial DNA (mtDNA) deletion mutations cause many human diseases and are linked to age-induced mitochondrial dysfunction. Mapping the mutation spectrum and quantifying mtDNA deletion mutation frequency is challenging with next generation sequencing methods. We hypothesized that long-read sequencing of human mtDNA across the lifespan would detect a broader spectrum of mtDNA rearrangements...

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Literature Corpus work: 37c5f91a-a49a-5096-81db-911c2a7b8eb5
DOI: 10.1101/2022.12.05.519134

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