Development of a Clinical Next generation Sequencing Assay for Mitochondrial Disorders

on Wednesday. He described several years of work developing and testing an NGS pipeline for a clinical mitochondrial disorder panel. He touched many pertinent points such as selecting the nuclear genes implicated in mitochondrial disease and issues related to heteroplasmy.

Many thanks to the committee for their feedback: Rong Mao, Ram Gouripeddi, Younghee Lee and Robert Schlaberg.

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