MENLO PARK, Calif., Jan. 9, 2023 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of highly accurate sequencing solutions, today announced a collaboration with the University of Tokyo, Graduate School of Medicine to study the use of long-read sequencing and novel bioinformatics methods in the hopes of better understanding the genetic causes of certain rare diseases in individuals and cohorts within the Japanese population.

"Through this collaboration with the University of Tokyo, we plan on developing and applying new methods in the hopes of identifying genetic mutations of many diseases impacting the Japanese population," said Michael Eberle, Vice President of Computational Biology at PacBio. "This will help improve our understanding of difficult genetic regions and variants that we hope will benefit the Japanese population."

High-throughput bioinformatics software applications that are optimized for PacBio HiFi long-read sequencing data, such as the Tandem Repeat Genotyping Tool (TRGT), are designed to enable researchers in Japan and the international community to more effectively uncover disease-associated variants, including structural variants such as tandem repeats.

PacBio has worked with University of Tokyo researchers for years and has assisted their work around sequencing hundreds of human genomes and structural variants associated with neurological disorders and leukemia (some of this research was published in Nature Genetics in 2018 and 2019 and in Oxford Bioinformatics in 2016).

"Collaborating with PacBio in applying advanced bioinformatics workflows should accelerate our in-progress work characterizing structural variants and making these findings more accessible to the broader scientific community. We believe this collaboration will complement our previous work and help us identify many more disease-causing structural variations in the human genome," said Dr. Shoji Tsuji, a senior investigator for the University of Tokyo Hospital, Department of Neurology.

Pacific Biosciences of California, Inc. (NASDAQ: PACB) is a premier life science technology company that is designing, developing, and manufacturing advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technology under development stem from two highly differentiated core technologies focused on accuracy, quality, and completeness which include our existing HiFi long-read sequencing and our emerging SBB® short-read sequencing technologies. Our products address solutions across a broad set of research applications, including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, please visit www.pacb.com and follow @PacBio.

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 U.S. Private Securities Litigation Reform Act of 1995. All statements other than statements of historical fact are forward-looking statements, including statements related to the collaboration with and the University of Tokyo, Graduate School of Medicine, the anticipated outcomes and results of such collaboration, such as identifying certain disease-causing variants associated with rare disease, and other future events.  Readers are cautioned not to place undue reliance on these forward-looking statements and any such forward-looking statements are qualified 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 the actual results to differ materially from such forward-looking statements, including, among others, potential product and quality issues, and risks inherent in conducting a research study. Readers are strongly encouraged to read the full cautionary statements contained in the Company's filings with the Securities and Exchange Commission, including the risks set forth in 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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