Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA

Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA

The unique features of mitochondrial DNA (mtDNA), including its circular and multicopy nature, the possible coexistence of wild-type and mutant molecules (i.e., heteroplasmy) and the presence of nuclear mitochondrial DNA segments (NUMTs), make the diagnosis of mtDNA diseases particularly challenging...

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Bibliographic Details
Main Authors: Marco Barresi, Giulia Dal Santo, Rossella Izzo, Andrea Zauli, Eleonora Lamantea, Leonardo Caporali, Daniele Ghezzi, Andrea Legati
Format: Article
Language:English
Published: MDPI AG 2025-02-01
Series:BioTech
Subjects:
bioinformatics
mtDNA
mitochondrial DNA
NGS
Online Access:https://www.mdpi.com/2673-6284/14/1/9
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