Analyzing Low-Level mtDNA Heteroplasmy—Pitfalls and Challenges from Bench to Benchmarking

Analyzing Low-Level mtDNA Heteroplasmy—Pitfalls and Challenges from Bench to Benchmarking

Massive parallel sequencing technologies are promising a highly sensitive detection of low-level mutations, especially in mitochondrial DNA (mtDNA) studies. However, processes from DNA extraction and library construction to bioinformatic analysis include several varying tasks. Further, there is no v...

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Bibliographic Details
Main Authors: Federica Fazzini, Liane Fendt, Sebastian Schönherr, Lukas Forer, Bernd Schöpf, Gertraud Streiter, Jamie Lee Losso, Anita Kloss-Brandstätter, Florian Kronenberg, Hansi Weissensteiner
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:International Journal of Molecular Sciences
Subjects:
mitochondrial DNA (mtDNA)
next generation sequencing (NGS)
heteroplasmy
variant callers
DNA polymerase
Online Access:https://www.mdpi.com/1422-0067/22/2/935

Internet

https://www.mdpi.com/1422-0067/22/2/935

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