Next Generation Sequencing of the Mitochondrial Genome Poster

admin  ∼  March 20, 2013  ∼  Mitochondrial disease Next gen sequencing Diagnose

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Presented to the American College of Medical Genetics (ACMG) by Kate Sheldon, Mark Tarnopolsky, Rosario Trifiletti, Frances Kendall, Kevin McKernan, Amir Zare, Richard Boles

Mitochondrial disorders present diagnostic challenges in that many genotypes share common phenotypes and conversely, many phenotypes have disparate genotypes. In this study, we describe our experience with sequencing the mtDNA from 118 unrelated patients referred for DNA testing based on a clinical suspicion for mitochondrial disease. In most cases, DNA was extracted from saliva collected in Oragene vials. 

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