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mtDNA analysis using Mitopore

Mitochondrial DNA (mtDNA) analysis is crucial for the diagnosis of mitochondrial disorders, forensic investigations, and basic research. Existing pipelines are complex, expensive, and require specialized personnel. In many cases, including the diagnosis of detrimental single nucleotide variants (SNV...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Jochen Dobner, Thach Nguyen, Mario Gustavo Pavez-Giani, Lukas Cyganek, Felix Distelmaier, Jean Krutmann, Alessandro Prigione, Andrea Rossi
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2024-06-01
Schriftenreihe:Molecular Therapy: Methods & Clinical Development
Schlagworte:
mtDNA analysis
long-read sequencing
clinical mtDNA diagnosis
haplogroups
webserver
forensic mtDNA analysis
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S2329050124000470
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