December 10, 2021 -- Pacific BioSciences (PacBio), the Institute for Precision Health at the University of California, Los Angeles (UCLA), and UCLA's David Geffen School of Medicine have formed a research collaboration to further identify the causes of rare diseases. The collaboration aims to identify variants not easily detectable by short-read sequencing.
The study will leverage PacBio's HiFi long-read sequencing technology for whole genome sequencing (WGS) in undiagnosed pediatric rare disease patients who have already been sequenced with short-read technology.
Dr. Stanley Nelson, director of the California Center for Rare Diseases and a professor at the David Geffen School of Medicine, will use full-length isoform sequencing and long-read WGS to investigate the effect on diagnostic yield in unresolved cases.
"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 explained.
"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," Nelson added.
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