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Targeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants.

Scientific reports - 24 Oct 2024

Akamatsu Shintaro, Mitsuhashi Satomi, Soga Kaima, Mizukami Heisuke, Shiraishi Makoto, Frith Martin C, Yamano Yoshihisa

Abstract excerpt

Variants in mitochondrial genomes (mtDNA) can cause various neurological and mitochondrial diseases such as mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS). Given the 16 kb length of mtDNA, continuous sequencing is feasible using long-read sequencing (LRS). Herein, we aimed to show a simple and accessible method for comprehensive mtDNA sequencing with potential diagnostic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39448697
DOI: 10.1038/s41598-024-75749-8
PMCID: PMC11502840

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