Journal
MITOCHONDRION
Volume 46, Issue -, Pages 302-306Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2018.08.003
Keywords
Mitochondrial DNA; Next-generation sequencing; Heteroplasmy; Bioinformatic analysis
Categories
Funding
- Wellcome Trust Centre for Mitochondrial Research [G906919]
- Parkinson's UK [F-1202]
- MRC [MR/K000608/1, G0800674, MR/L016354/1] Funding Source: UKRI
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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.
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