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A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA

2026-02-27

Abstract excerpt

<h4>ABSTRACT</h4> Nuclear-embedded mitochondrial DNA segments (NUMT) preserve a record of ongoing mitochondrial-to-nuclear DNA transfer during evolution, with important implications for disease mechanisms and genome organization. Here, we developed a Pangenome Graph-based NUMT Detection (PG-NUMT) approach to improve NUMT detection sensitivity by 2.52-fold compared to short-read based approaches and comprehensivel...

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Literature Corpus work
ea56b5f9-443e-5a9a-a263-ab3a73645c70
DOI
10.64898/2026.02.26.708114
Open publication

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A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNADOI 10.64898/2026.02.26.708114
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