PacBio, a leading provider of high-quality, highly accurate sequencing platforms, and the UCLA Institute for Precision Health and David Geffen School of Medicine at UCLA have formed a research collaboration to further identify the causes of rare diseases.

The study will leverage PacBio’s HiFi long-read sequencing technology for whole genome sequencing (WGS) to look at undiagnosed pediatric rare disease patients who have already been sequenced with short-read technology.

Dr. Stanley Nelson, Director, California Center for Rare Diseases, and professor, pathology and laboratory medicine and human genetics, David Geffen School of Medicine at UCLA, will be pioneering the combined use of full-length isoform sequencing (Iso-Seq) and long-read WGS in an effort to investigate the effect on diagnostic yield in these 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,” explained Nelson. “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.”

“We are excited to see the growing interest in PacBio’s HiFi sequencing as an important new tool for detecting large or challenging variants missed by short-read sequencing,” said Christian Henry, President and CEO of PacBio. “We are proud to use our technology to support UCLA Health in their commitment to solving medical mysteries and helping to potentially reduce the time to diagnosis.”