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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Enregistré dans:
Détails bibliographiques
Publié dans:Front Genet
Auteurs principaux: Bris, Céline, Goudenege, David, Desquiret-Dumas, Valérie, Charif, Majida, Colin, Estelle, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2018
Sujets:
Genetics
Accès en ligne: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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