Interpreting NUMTs in forensic genetics: Seeing the forest for the trees.
Alignment
Bioinformatics
Forensic science
Mega-NUMTs
Mitochondrial DNA
MtDNA
NUMTs
Nuclear elements of mtDNA
Journal
Forensic science international. Genetics
ISSN: 1878-0326
Titre abrégé: Forensic Sci Int Genet
Pays: Netherlands
ID NLM: 101317016
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
received:
29
01
2021
revised:
10
03
2021
accepted:
11
03
2021
pubmed:
20
3
2021
medline:
18
8
2021
entrez:
19
3
2021
Statut:
ppublish
Résumé
Nuclear mitochondrial DNA (mtDNA) segments (NUMTs) were discovered shortly after sequencing the first human mitochondrial genome. They have earlier been considered to represent archaic elements of ancient insertion events, but modern sequencing technologies and growing databases of mtDNA and NUMT sequences confirm that they are abundant and some of them phylogenetically young. Here, we build upon mtDNA/NUMT review articles published in the mid 2010 s and focus on the distinction of NUMTs and other artefacts that can be observed in aligned sequence reads, such as mixtures (contamination), point heteroplasmy, sequencing error and cytosine deamination. We show practical examples of the effect of the mtDNA enrichment method on the representation of NUMTs in the mapped sequence data and discuss methods to bioinformatically filter NUMTs from mtDNA reads.
Identifiants
pubmed: 33740708
pii: S1872-4973(21)00036-3
doi: 10.1016/j.fsigen.2021.102497
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
102497Informations de copyright
Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.