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Pilot Project Demonstrates Power Of HiFi Sequencing

PacBio of California, a leading provider of high-quality, highly accurate sequencing platforms, has announced a collaboration with Genomics England to study PacBio’s technology for identifying genetic variants in unexplained rare disease cases.

Genomics England was initially created to deliver the 100,000 Genomes Project – the largest whole genome sequencing disease cohort of cancer and rare disease participants in the National Health Service (NHS). The study will re-sequence a selection of samples collected during Genomics England’s 100,000 Genomes Project, which were previously analyzed with short read sequencing technology. The study is intended to reveal potential operational and clinical benefits of long-read sequencing in identifying genetic mutations associated with rare diseases.

“PacBio HiFi sequencing is a powerful tool for understanding the genetic underpinnings of rare disease, cancer, and other applications as it provides clinical researchers with the ability to view the genome more completely than other sequencing technologies,” said Christian Henry, President and Chief Executive Officer of PacBio. “Our collaboration with Genomics England is part of a broader strategy to demonstrate the benefits of HiFi sequencing when attempting to identify rare diseases, and follows recent announcements of rare disease-focused research collaborations with Radboud University Medical Center, Care4Rare Canada Consortium, ARUP Laboratories, UCLA Health, Rady Children’s Institute for Genomic Medicine, and Children’s Mercy Kansas City.”

“The 100,000 Genomes Project was able to find actionable mutations in around 25 percent of patients with rare disease,” said Parker Moss, Chief Ecosystem & Partnership Officer at Genomics England. “We are excited to discover whether new technologies like PacBio’s HiFi, can identify additional genomic variants in regions of the genome that are not readily accessible by short-read sequencing technologies. We are hopeful that additional insight gained during the study may, ultimately, lead to new therapeutic or clinical trial options for patients with rare disease. This study represents our continued commitment to the 100,000 Genomes Project participants, and also to our quest to seek out the benefits of new disruptive technologies.”

Pacific Biosciences of California, Inc. (NASDAQ: PACB) is empowering life scientists with highly accurate sequencing platforms. The company’s innovative instruments are based on Single Molecule, Real-Time Sequencing technology, which delivers a comprehensive view of genomes, transcriptomes, and epigenomes, enabling access to the full spectrum of genetic variation in any organism. Cited in thousands of peer-reviewed publications, PacBio sequencing systems are in use by scientists around the world to drive discovery in human biomedical research, plant and animal sciences, and microbiology. For more information, visit and follow @PacBio.