Whole Genome Sequencing for Rare Clinical and Consanguineous Familial Cases

Presented by: Christopher E. Mason, Ph.D., Assistant Professor, Department of Physiology and Biophysics and the Institute for Computational Biomedicine; Affiliate Fellow of Genomics, Ethics, and Law, ISP, Yale Law School | Duration: 37:16 minutes

Learn how to use Ingenuity® Variant Analysis™ to analyze whole genome sequencing data. Chris Mason, Ph.D., presents a case study where Variant Analysis was used to analyze data from rare clinical cases with extreme phenotypes from the NIH’s Undiagnosed Disease program and a consanguineous family with neural-tube defects. You will learn how to pinpoint likely genes causing disease phenotypes and see how an integrated systems biology approach that leverages biological analysis can contribute to advancements in personalized medicine.

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