Article

Novel method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome

2022-02-08

Abstract excerpt

<h4>Methods: </h4> to reconstruct the mitochondrial DNA (mtDNA) sequence using short-read sequencing come with an inherent bias due to amplification and mapping. They can fail to determine the phase of variants, to capture multiple deletions and to cover the mitochondrial genome evenly. Long-read whole genome sequencing is prohibitively expensive for mtDNA heteroplasmy detection and often does not recapitulate the...

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Literature Corpus work: 5256d896-5895-5db2-9889-b01ab98490e9
DOI: 10.1101/2022.02.08.479581

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