Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.

TitleAssessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.
Publication TypeJournal Article
Year of Publication2019
AuthorsSantibanez-Koref, M, Griffin, H, Turnbull, DM, Chinnery, PF, Herbert, M, Hudson, G
JournalMitochondrion
Volume46
Pagination302-306
Date Published2019 05
ISSN1872-8278
KeywordsComputational Biology, DNA, Mitochondrial, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Mitochondrial Diseases, Sequence Analysis, DNA
Abstract

The mitochondrial genome has recently become the focus of several high-impact next-generation sequencing studies investigating the effect of mutations in disease and assessing the efficacy of mitochondrial replacement therapies. However, these studies have failed to take into consideration the capture of recurring translocations of mitochondrial DNA to the nuclear genome, known as nuclear mitochondrial sequences (NUMTs), continuing to align sequence data to the revised Cambridge reference sequence alone. Here, using different mtDNA enrichment techniques and a variety of tissues, we demonstrate that NUMTs are present in sequence data and that, dependent upon downstream analysis, are at a level which affects variant calling.

DOI10.1016/j.mito.2018.08.003
Alternate JournalMitochondrion
Citation Key10.1016/j.mito.2018.08.003
PubMed ID30098421
PubMed Central IDPMC6509278
Grant List / / Wellcome Trust / United Kingdom
MC_UP_1501/2 / / Medical Research Council / United Kingdom
G906919 / / Wellcome Trust / United Kingdom