Identifying genetic variants associated with rare Mendelian Diseases

Golden Helix Inc.
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Published on May 3, 2017

Dr. Jingga Inlora is a postdoctoral fellow in the Snyder lab at Stanford University. In this webcast, Inlora will present on her team's recent study focused on identifying genetic variants associated with rare Mendelian Diseases. In this webcast, discusses four cases of Mendelian disorders observed in affected families. Using WES and bioinformatics techniques, her team identified variants in each disease case, which co-segregates with the disease and are compatible with the phenotype.

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