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Pacific Biosciences, UCLA Collaborate on Rare Disease Diagnostics

NEW YORK – Pacific Biosciences said on Tuesday that it has formed a collaboration with researchers at the University of California, Los Angeles to sequence patients with rare, undiagnosed, pediatric diseases.

The partners will study the effect of combining PacBio's HiFi long-read whole-genome sequencing and RNA isoform sequencing (Iso-Seq) on diagnostic yield in rare disease cases. They will look at patients who have already been sequenced with short-read technology. Stanley Nelson, director of the California Center for Rare Diseases and a professor at UCLA's David Geffen School of Medicine, will lead the study.

"For rare disease patients, a genetic diagnosis always provides clarity to the whole family and can mean more effective treatments to avoid long-term complications," Nelson said in a statement. "Within our undiagnosed diseases program at UCLA, approximately 50 percent of the rare disease patients we conduct short-read WGS on will still not have a DNA diagnosis. We hope that the knowledge we gain will allow us to reduce that number and give more families a diagnosis."

The study is the latest collaboration for PacBio around rare disease diagnostics, but the first to explicitly include RNA isoform sequencing. The firm is running separate collaborations on WGS-based rare disease diagnostics with Children's Mercy Kansas City and Rady Children's Institute for Genomic Medicine.

Menlo Park, California-based PacBio is also working with Invitae on WGS-based testing for pediatric epilepsy and a clinical WGS platform.

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