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Lookup NU author(s): Alex Bury, Dr Fiona Robertson, Dr Angela Pyle, Dr Brendan PayneORCiD, Professor Gavin Hudson
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© 2021, Springer Science+Business Media, LLC, part of Springer Nature.In recent years, next-generation sequencing (NGS) has become a powerful tool for studying both inherited and somatic heteroplasmic mitochondrial DNA (mtDNA) variation. NGS has proved particularly powerful when combined with single-cell isolation techniques, allowing the investigation of low-level heteroplasmic variants both between cells and within tissues. Nevertheless, there remain significant challenges, especially around the selective enrichment of mtDNA from total cellular DNA and the avoidance of nuclear pseudogenes. This chapter summarizes the techniques needed to enrich, amplify, sequence, and analyse mtDNA using NGS.
Author(s): Bury AG, Robertson FM, Pyle A, Payne BAI, Hudson G
Publication type: Book Chapter
Publication status: Published
Book Title: Methods in Molecular Biology
Year: 2021
Volume: 2277
Pages: 433-447
Online publication date: 03/06/2021
Acceptance date: 02/04/2018
Series Title: Methods in Molecular Biology
Publisher: Humana Press Inc.
Place Published: Humana, New York
URL: https://doi.org/10.1007/978-1-0716-1270-5_27
DOI: 10.1007/978-1-0716-1270-5_27
PubMed id: 34080167
Library holdings: Search Newcastle University Library for this item
ISBN: 9781071612699