The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing

The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing

Abstract This study evaluates long-read and short-read sequencing for mitochondrial DNA (mtDNA) heteroplasmy detection. 592,315 bootstrapped datasets generated from two single-nucleotide mismatched ultra-deep sequenced mtDNA samples were used to assess basecalling error and accuracy, limit of hetero...

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Bibliographic Details
Main Authors: Barbara Slapnik, Robert Šket, Klementina Črepinšek, Tine Tesovnik, Barbara Jenko Bizjan, Jernej Kovač
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Scientific Reports
Subjects:
mtDNA
Heteroplasmy
Mitochondrial disease
Long-read sequencing
Online Access:https://doi.org/10.1038/s41598-024-78270-0
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