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Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Genes - 15 May 2023

Barretta Ferdinando, Uomo Fabiana, Caldora Filomena, Mocerino Rossella, Adamo Daniela, Testa Francesco, Simonelli Francesca, Scudiero Olga, Tinto Nadia, Frisso Giulia, Mazzaccara Cristina

Abstract excerpt

BACKGROUND: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe the validation and implementation of a custom blended MITOchondrial-NUCLEAR (MITO-NUCLEAR) assay for the...

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DNA, Mitochondrial
High-Throughput Nucleotide Sequencing
Mitochondria
Mitochondrial Diseases
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37239447
DOI: 10.3390/genes14051087
PMCID: PMC10217848

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