Next Generation Sequencing of a Thousand Nuclear Mitochondrial Genes Oral Abstract Presentations

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

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Oral Abstract presentation to the American College of Medical Genetics (ACMG) by Richard Boles, Rosario Trifiletti, Mark Tarnopolsky, Frances Kendall, Kevin McKernan, Amir Zare, Audrey Griesbach, Kate Sheldon.

Mitochondrial disorders present diagnostic challenges due to erratic genotype-phenotype correlation.
In this study, we describe our experience with sequencing in 87 unrelated patients referred due to a clinical suspicion for mitochondrial disease.

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