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

  title={Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing},
  author={C{\'e}line Bris and David Gouden{\`e}ge and V Desquiret-Dumas and Majida Charif and Estelle Colin and Dominique Bonneau and Patrizia Amati‐Bonneau and Guy Lenaers and Pascal Reynier and Vincent Procaccio},
  journal={Frontiers in Genetics},
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 interpretation of the identified variants, thereby posing new challenges for the molecular diagnosis of mitochondrial diseases. Indeed, mtDNA sequencing by NGS requires specific bioinformatics tools and… 

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