Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

The development of next generation sequencing (NGS) has greatly enhanced the diagnosis of mitochondrial disorders, with a systematic analysis of the whole mitochondrial DNA (mtDNA) sequence and better detection sensitivity. However, the exponential growth of sequencing data renders complex the inter...

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Bibliographic Details
Main Authors: Céline Bris, David Goudenege, Valérie Desquiret-Dumas, Majida Charif, Estelle Colin, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Vincent Procaccio
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Genetics
Subjects:
mitochondria
mitochondrial diseases
mitochondrial DNA
next generation sequencing
bioinformatics
mtDNA variant interpretation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00632/full

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https://www.frontiersin.org/article/10.3389/fgene.2018.00632/full

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