February 5, 2021  |  Presentation

ASHG PacBio Workshop: Towards precision medicine

Euan Ashley from Stanford University started with the premise that while current efforts in the field of genomics medicine address 30% of patient cases, there’s a need for new approaches to make sense of the remaining 70%. Toward that end, he said that accurately calling structural variants is a major need. In one translational research example, Ashley said that SMRT Sequencing with the Sequel System allowed his team to identify six potentially causative genes in an individual with complex and varied symptoms; one gene was associated with Carney syndrome, which was a match for the person’s physiology and was later validated. That work involved running 10 SMRT Cells on the Sequel System. In separate work, his team used the Iso-Seq method with personalized haplotyping to explore how precision gene silencing could be used for people with hypertrophic cardiomyopathy.

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