Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.
Bioinformatic analysis
Heteroplasmy
Mitochondrial DNA
Next-generation sequencing
Journal
Mitochondrion
ISSN: 1872-8278
Titre abrégé: Mitochondrion
Pays: Netherlands
ID NLM: 100968751
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
03
04
2018
revised:
09
07
2018
accepted:
02
08
2018
pubmed:
12
8
2018
medline:
17
8
2019
entrez:
12
8
2018
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30098421
pii: S1567-7249(18)30087-4
doi: 10.1016/j.mito.2018.08.003
pmc: PMC6509278
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Pagination
302-306Subventions
Organisme : Medical Research Council
ID : MR/K000608/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UP_1501/2
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L016354/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : G906919
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0800674
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
Crown Copyright © 2018. Published by Elsevier B.V. All rights reserved.
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