Bionano’s ASHG workshop was our best attended yet, and had speakers giving updates on Bionano tech, and presenting on cancer genomes. But Dr. Hayk Barseghyan from Dr. Eric Vilain’s team at Children’s National Health Center (formerly from UCLA) put the focus on genetic disease. He presented work from his Genome Medicine paper on molecular diagnosis of patients with Duchenne Muscular Dystrophy, and showed a preview of an intriguing study where patients with a variety of undiagnosed genetic disorders get their genomes mapped with Bionano, hoping to find disease causing variants.
April 7, 2020
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