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Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the US and globally, we have coordinated and facilitated NGS projects for rare disease. We will summarize what we learned from all these sites for the entire process from consent, sample collection, library prep, sequencing, bioinformatics, interpretation, counseling, and clinical reimbursement.

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