Article

Long-read sequencing reveals novel mitochondrial genome variants undetected by short-read sequencing in Korean population

2026-07-17

Abstract excerpt

While long-read sequencing technologies (e.g., PacBio Revio, ONT) have revolutionized high-quality genome assembly for the human pangenome, mitochondrial genome (mtDNA) analysis still largely relies on short-read and Sanger sequencing. However, short-read sequencing often lacks the resolution required to resolve complex variations due to the unique features of mtDNA, such as high mutation rates and repetitive homo...

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Literature Corpus work: 6490437a-b244-599c-b823-6b82af0d8302
DOI: 10.64898/2026.07.15.738850

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