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

Abstract 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 (L...

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Autori principali: Shintaro Akamatsu, Satomi Mitsuhashi, Kaima Soga, Heisuke Mizukami, Makoto Shiraishi, Martin C Frith, Yoshihisa Yamano
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Portfolio 2024-10-01
Serie:Scientific Reports
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Accesso online:https://doi.org/10.1038/s41598-024-75749-8
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