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Sha Tang, Jing Wang, Victor Wei Zhang, Fang-Yuan Li, Megan Landsverk, Hong Cui, Cavatina K. Truong, Guoli Wang, Li Chieh Chen, Brett Graham, Fernando Scaglia, Eric S. Schmitt, William J. Craigen and Lee-Jun C. Wong Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects Human Mutation 34

Version of Record online: 2 APR 2013 | DOI: 10.1002/humu.22307

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This article summarizes the results of mitochondrial DNA (mtDNA) mutation analysis of a large cohort of patients with suspected mitochondrial disease using three different approaches — screening for common mtDNA point mutations and large deletions, sequencing the entire mtDNA by Sanger sequencing, and mtDNA mutation analyses employing Next-Generation sequencing (mtWGS-NGS). We demonstrate that the comprehensive mtWGS-NGS methodology can simultaneously detect mtDNA point mutations with high sensitivity, accurately quantify mutation heteroplasmy, and detect large mtDNA deletions with breakpoints precisely mapped.

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