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HiFi sequencing is used in a cohort of rare disease cases with the aim of identifying numerous small and structural variants that cannot be easily detected by short-read sequencing
MENLO PARK, Calif., June 23, 2021 (GLOBE NEWSWIRE) – Pacific Biosciences of California, Inc. (Nasdaq: PACB) (“Pacific Biosciences” or “PacBio”), a leading provider of high quality long-reader sequencing platforms, and Rady Children’s Institute for Genomic Medicine (RCIGM), a mission-driven, not-for-profit organization committed to saving lives and improving outcomes for patients, clinicians and families, announced today that they are collaborating on a study aimed at identifying potential disease-causing genetic variants and increase the resolution rates of rare diseases.
The study focuses on long-read whole genome sequencing of rare disease cases for which previous short read whole genome and exome sequencing did not provide answers. The current study was able to identify variants that were not identified by short read sequencing (SRS); of these, an average of 37 were missense mutations in known disease genes.
“PacBio HiFi sequencing can identify numerous variants, both small and structural, that are not readily detectable by SRS,” said Matthew Bainbridge, Principal Investigator and Associate Director of Clinical Genomics at RCIGM. “We sequenced this patient cohort to 10-30x coverage using Pacific Biosciences’ HiFi Long Read technology to assess whether identification of these variants has increased. We are very pleased with the preliminary results of this collaboration with the PacBio team. “
It is estimated that up to 25 million Americans – approximately 1 in 13 people – have a rare and often undiagnosed condition. In studies of rare diseases, conventional techniques of whole genome and total exome analysis based on SRS typically led to the identification of a causal variant in less than 50% of cases. Using PacBio’s Single Molecule Real-Time (SMRT®) sequencing technology to generate high-precision long reads, known as hi-fi reads, clinical researchers have shown that they can detect disease-causing structural and small variations produced by short-read sequencing platforms be overlooked. This study was designed to evaluate the rate at which HiFi sequencing identifies missed causal variations.
“It is an honor to work with the innovative translational pediatric researchers at the RCIGM to translate hi-fi sequencing data into some of their toughest cases of rare pediatric diseases, and hopefully provide individuals and families with answers on potential underlying genetic variants that may ultimately be” health care providers Providing insights to end their diagnostic odyssey, ”said Christian Henry, CEO and President of PacBio.
“We knew there was a subset of critically ill babies and children who would not get a diagnosis with current sequencing methods, but based on their symptoms we are pretty sure they have an underlying genetic disease,” said Stephen Kingsmore, MD. DSc, President and CEO of Rady’s Children’s Institute for Genomic Medicine. “We are excited to see how many more of these children and families will gain additional insights into the identification of genetic variants that could potentially cause disease with this new technology.”
About Pacific Biosciences
Pacific Biosciences of California, Inc. (NASDAQ: PACB) helps life scientists with high-precision long-read sequencing. The company’s innovative instruments are based on Single Molecule Real-Time (SMRT®) sequencing technology, which provides a comprehensive overview of genomes, transcriptomes and epigenomes and enables access to the full spectrum of genetic variation in every organism. The PacBio® sequencing systems are cited in thousands of peer-reviewed publications and are used by scientists around the world to advance discoveries in human biomedical research, plant and animal sciences, and microbiology. For more information, please visit www.pacb.com and follow @PacBio.
Via the Rady Children’s Institute for Genomic Medicine
We are transforming pediatric intensive care medicine by advancing disease-specific health care for infants and children with rare diseases. The Institute’s discoveries enable the rapid diagnosis and targeted treatment of critically ill neonates and pediatric patients at Rady Children’s Hospital-San Diego and a growing network of more than 60 children’s hospitals across the country. The vision is to expand the delivery of this life-changing technology to enable the use of Rapid Precision Medicine ™ in children’s hospitals across the country and around the world. RCIGM is a non-profit research institute of the Rady Children’s Hospital and Health Center. Learn more at www.RadyGenomics.org. Follow us on Twitter and LinkedIn.
PacBio products are provided for research use only. Not for use in diagnostic procedures.
This press release may contain “forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the US Private Securities Litigation Reform Act of 1995, including statements regarding the cooperation between PacBio and RCIGM, potential use of the SMRT sequencing technology to identify and increase the rate of identification of potential disease-causing genetic variants in rare diseases, the potential of hi-fi data, the applications, insights and properties of SMRT sequencing technology, and the benefits of PacBio sequencing. Readers are cautioned not to place undue reliance on these forward-looking statements, and such forward-looking statements are limited in their entirety by reference to the following cautionary statements. All forward-looking statements speak only as of the date of this press release and are based on current expectations and involve a number of assumptions, risks and uncertainties that could cause actual results to differ materially from those of such forward-looking statements. Readers are strongly encouraged to read the full cautionary statement in the company’s filings with the Securities and Exchange Commission, including the risks set forth on the company’s Forms 8-K, 10-K, and 10-Q. The company disclaims any obligation to update or revise any forward-looking statements.
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