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KK Women’s and Children’s Hospital and PacBio Collaborate in Asia’s First Study of Unexplained Neurodevelopmental Disorders
PacBio HiFi Sequencing Technology Will Be Used to Investigate Effect on Diagnostic Yield of Unresolved Rare Diseases in Children SINGAPORE and MENLO PARK,
About this update from Pacific Biosciences Of California, Inc.
[{"type":"text","content":"PacBio HiFi Sequencing Technology Will Be Used to Investigate Effect on Diagnostic Yield of Unresolved Rare Diseases in Children\nSINGAPORE and MENLO PARK, Calif., Feb. 16, 2022 (GLOBE NEWSWIRE) -- KK Women’s and Children’s Hospital (KKH) and PacBio (Nasdaq: PACB), a leading provider of high-quality, highly accurate sequencing platforms, today announced a collaboration to leverage PacBio technology in understanding the genetic causes of neurodevelopmental disorders. As part of the Bringing Research Innovations for the Diagnosis of GEnetic diseases in Singapore (BRIDGES) program, the collaboration will use HiFi long read sequencing technology to investigate the effect on diagnostic yield in unresolved neurodevelopmental disorder cases, of which only 39 percent were resolved using short read sequencing technologies. The collaboration brings together two powerhouses within their respective fields. KKH is an academic medical center leading in Obstetrics, Gynecology, Pediatrics and Neonatology. Its 830-bed facility is a tertiary referral center to manage high-risk conditions in women and children. PacBio is a leading provider of long-read sequencing technology, and has extensive rare disease-focused collaborations with many U.S.- and Europe- based organizations. “Understanding the genetic causes of rare, undiagnosed diseases offers affected families some form of closure, including potential therapy options, and the ability to make informed family planning decisions,” said the Lead Principal Investigator of Singapore Undiagnosed Disease Program, Dr. Saumya Jamuar, who is also Senior Consultant, Genetics Service at KKH and Head of SingHealth Duke-NUS Genomic Medicine Center. “As the first hospital in Asia using HiFi long read sequencing technology, our researchers want to better understand the genetic underpinnings or rare diseases in the hopes of ultimately improving the chances of making rare disease diagnoses, which may help us to offer targeted clinical management with improved health outcomes for more families.” PacBio will also work with KKH to build a bioinformatics pipeline optimized for HiFi long read sequencing data analysis, enabling KKH to investigate possible disease-associated variants, including structural variants, in previously unresolved cases in the hopes of increasing diagnostic yield in rare disease cases of suspec...