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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Vydáno v:Front Genet
Hlavní autoři: Bris, Céline, Goudenege, David, Desquiret-Dumas, Valérie, Charif, Majida, Colin, Estelle, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2018
Témata:
Genetics
On-line přístup: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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