PacBio and CoLoRS International Research Consortium Announce Release of HiFi Long Read Variant Database for the First Time

The consortium provides publicly available datasets that enrich the discovery of rare and novel genetic variants for advances in human disease research

MENLO PARK, California., June 10, 2024 /PRNewswire/ — PacBio (NASDAQ: PACB ), a leading developer of high-quality, highly accurate sequencing solutions, in collaboration with the International Consortium for Long Read Sequencing (CoLoRS), today announced the launch of the first available publicly and free of charge frequency data of variants read during HiFi with global representation. This innovative resource fills a critical gap for rare disease researchers by providing access to genetic variants that are not detectable through short-read sequencing methods. By enabling the filtering of common structural variants from long-read sequence data, this database allows the identification of rare and novel variants in rare disease cases. The launch of this database enables researchers to use long-read genomic data to advance human health research.

“Joining forces with PacBio has enabled us to leverage their HiFi sequencing capabilities, increasing the depth and accuracy of the genomic data we can provide to the research community,” said. Michael SchatzBloomberg Distinguished Professor at Johns Hopkins University. “This effort complements existing databases like gnomAD, as long reads enable much greater sensitivity and precision for complex variants (SVs) and tandem repeats. The CoLoRS database is a tremendous step forward in our collective effort to understand complex genetic variations and their implications in disease.”

Studies have shown that long read sequencing finds 15,000 more structural variants (SVs) and 300,000 more minor variants than short reads. SVs are essential as they account for most of the genetic diversity among humans and are associated with disease pathogenesis. The CoLoRS database integrates data from nearly 1,000 long-read genomes, providing detailed insights into human variation and improving the detection of complex variants and tandem repeats. This resource has been developed by a global coalition from top clinical and academic institutions, bringing together diverse long-read genome data from various research projects.

“We are excited to see the release of the CoLoRS database, a major development in genomic research,” said Christian Henry, President and Chief Executive Officer of PacBio. “This collaboration with CoLoRS members illustrates our commitment to supporting the scientific community with tools that increase the accuracy and utility of genetic research. It also demonstrates the unique capabilities of our HiFi sequencing technology. By making this information accessible to the public, we are empowering researchers around the world to make important advances in areas such as oncology, rare diseases and genetic disorders.”

Researchers are invited to access the CoLoRS database and explore its capabilities at www.colorsdb.org. Powered by PacBio’s HiFi sequencing technology, this platform provides researchers with new insights into human genomic variation, accelerating advances in critical areas of medical research.

About PacBio
PacBio (NASDAQ: PACB) is a leading life science technology company that designs, develops and manufactures advanced sequencing solutions to help scientists and clinical researchers solve complex genetic problems. Our products and technologies are derived from two highly differentiated core technologies focused on accuracy, quality and completeness, which include our HiFi long-read sequencing and our SBB® short-read sequencing technologies. Our products address solutions in a wide range of research applications, including human gene sequencing, plant and animal sciences, infectious diseases and microbiology, oncology and other emerging applications. For more information, please visit www.pacb.com and follow @PacBio.

PacBio products are provided for research use only. Not for use in diagnostic procedures.

Forward-looking statements
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 Securities and Exchange Reform Act of 1995 .All statements other than statements of historical fact are forward-looking statements, including statements regarding the uses, coverage, advantages, quality or performance, or benefits or expected benefits of using PacBio’s products or technologies; enabling researchers to use long-read genomic data to advance human health research; empowering researchers to make breakthroughs in areas such as oncology, rare diseases and genetic disorders; and other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks and uncertainties and could cause actual results and outcomes to differ materially from those currently expected, including the challenges inherent in ranking a number of of human genomes. , and the difficulty of generating discoveries in different fields of research; unanticipated increases in costs or expenses; interruptions or delays in the supply of components or materials for, or the manufacture of, PacBio’s products and products in development; potential product performance and quality problems; claims by third parties alleging infringement of patents and proprietary rights or seeking to invalidate PacBio’s patents or proprietary rights; and other risks associated with international operations. Additional factors that could materially affect actual results can be found in PacBio’s most recent filings with the Securities and Exchange Commission, including PacBio’s most recent reports on Forms 8-K, 10-K and 10-Q, and include those listed under the heading “Risk Factors.” These forward-looking statements are based on current expectations and speak only as of the date hereof; except as required by law, PacBio disclaims any obligation to revise or update these forward-looking statements to reflect future events or circumstances, even if new information becomes available.

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SOURCE Pacific Biosciences of CaliforniaInc.