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Lookup NU author(s): Dr Brendan PayneORCiD,
Dr Jonathan Coxhead,
Professor Patrick Chinnery
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© Springer Science+Business Media New York 2015. All right reserved. Detecting and quantifying low-level variants in mitochondrial DNA (mtDNA) by deep resequencing can lead to important insights into the biology of mtDNA in health and disease. Massively parallel ("nextgeneration") sequencing is an attractive tool owing to the great depth and breadth of coverage. However, there are several important challenges to be considered when using this method, in particular: the avoidance of false discovery due to the unintended amplification of nuclear pseudogenes and the approach to delineating signal from noise at very great depths of coverage. Here we present methods for whole mtDNA genome deep sequencing (Illumina MiSeq) and short amplicon deep sequencing (Roche 454 GS-FLX).
Author(s): Payne BAI, Gardner K, Coxhead J, Chinnery PF
Publication type: Book Chapter
Publication status: Published
Book Title: Mitochondrial Medicine
Print publication date: 28/01/2015
Acceptance date: 01/01/1900
Publisher: Springer New York
Library holdings: Search Newcastle University Library for this item