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PacBio and ARUP Laboratories Collaborate in a Study to Improve Rare Disease Diagnosis
Whole genome HiFi sequencing will be used on unexplained rare disease cases to evaluate if it can identify variants not readily detectable by short-read
About this update from Pacific Biosciences Of California, Inc.
[{"type":"text","content":"Whole genome HiFi sequencing will be used on unexplained rare disease cases to evaluate if it can identify variants not readily detectable by short-read sequencing\nMENLO PARK, Calif., Nov. 18, 2021 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), a leading provider of high-quality, highly accurate sequencing platforms, and ARUP Laboratories announced today they are collaborating on a study intended to evaluate whether the solve rate for rare disease cases can be increased. ARUP Laboratories has purchased a PacBio Sequel IIe system for use in the Utah NeoSeq Project. The project, launched in early 2020, leverages an accelerated sequencing and analysis pipeline intended to provide a genetic diagnosis for patients in the neonatal intensive care unit (NICU) in less than a week. By incorporating the Sequel IIe in the study, the team hopes to demonstrate the potential of long-read HiFi sequencing technology to identify variants in areas of the genome that are difficult to sequence with short-read sequencing technologies and, ultimately, increase diagnostic yield for rare disease cases. Currently, the cause of more than half of rare disease cases worldwide remains unexplained. Using short-read whole genome sequencing (WGS), the lab’s current diagnostic yield for rare disease is about 30% to 50%. The study will explore the use of HiFi WGS, which provides more comprehensive, accurate, and high-definition coverage of hard-to-read regions in the human genome, to determine if it can identify variants, both small and structural, that were not readily detectible by short-read WGS. Additionally, ARUP Laboratories is seeking to develop clinical assays for areas that are difficult to sequence with short-read sequencing technologies, such as repeat expansions and pseudogenes. “Our team at ARUP Laboratories knows that each sample represents a patient, and we want to do everything that we can to provide every patient who comes to us with a diagnosis,” said Hunter Best, PhD, Medical and Scientific Director of Genomics, ARUP Laboratories. “With the incorporation of HiFi WGS in the study, we believe that we will be able to obtain more insight into the samples we receive, ultimately helping our clients and their patients find answers.” The initial phase of the study uses HiFi WGS on those samples already sequenced with short-read technology, but without a r...