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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Front Genet
Main Authors: Bris, Céline, Goudenege, David, Desquiret-Dumas, Valérie, Charif, Majida, Colin, Estelle, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2018
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6297213/
https://ncbi.nlm.nih.gov/pubmed/30619459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00632
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