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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...

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Wedi'i Gadw mewn:
Prif Awduron: Jochen Dobner, Thach Nguyen, Mario Gustavo Pavez-Giani, Lukas Cyganek, Felix Distelmaier, Jean Krutmann, Alessandro Prigione, Andrea Rossi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2024-06-01
Cyfres:Molecular Therapy: Methods & Clinical Development
Pynciau:
mtDNA analysis
long-read sequencing
clinical mtDNA diagnosis
haplogroups
webserver
forensic mtDNA analysis
Mynediad Ar-lein:http://www.sciencedirect.com/science/article/pii/S2329050124000470
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