PacBio Enables Rare and Inherited Disease Research by Adding Tertiary Analysis Partners to PacBio Compatible

News provided by

Pacific Biosciences of California, Inc.

Nov 01, 2023, 09:05 ET

Partnerships Maximize Value of HiFi Data and Complete the Full End-to-End Workflow for PacBio Customers.

MENLO PARK, Calif., Nov. 1, 2023 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the addition of two tertiary analysis partners to PacBio Compatible. Geneyx and Golden Helix will enable PacBio customers to leverage PacBio HiFi data for disease research with the Revio, Sequel II and IIe sequencing systems.

Interpreting sequencing data generally involves primary, secondary, and tertiary analysis. Tertiary analysis powers knowledge discovery from variants, usually including annotation, filtering, and data visualization, and can provide further support for phasing and analyzing complex events such as structural variation. These new partnerships are designed to maximize the value of HiFi data and complete the full end-to-end workflow for PacBio customers.

"Primary and secondary analysis solutions are available through our SMRT Analysis Software, the recently released PacBio WGS Variant Pipeline, and analysis partners such as GoogleHealth, all of which provide the best quality of data to power biological interpretation," said Jeff Eidel, Chief Commercial Officer at PacBio. "Through our new partnerships with Geneyx and Golden Helix, researchers can accelerate their discoveries and find solutions from sample to answer across their HiFi-based workflows."

Publications show that HiFi sequencing finds more structural variants (SVs) than short reads.¹ SVs are important as they account for much of the genetic diversity between humans and have been shown to be associated with disease pathogenesis. Our tertiary analysis partners can further accelerate customers' interpretation of this important variant class and enable PacBio customers to create a biological interpretation more easily from the underlying genomic content of their samples, maximizing the impact of PacBio sequencing on human health.

"Geneyx takes great pride in its partnership with PacBio. This collaboration leverages our HiFi sequencing data analysis expertise, enabling us to provide a comprehensive solution for long-read whole genome sequencing analysis. Our specialized tools, including phasing and methylation analysis, are tailored to PacBio data, simplify the bioinformatics process, and ensure accurate variant annotation and classification," said David Yizhar, Chief Executive Officer of Geneyx. "Geneyx serves a diverse global user base, including PacBio customers. Together, our efforts will advance the realms of research."

"Long-read sequencing has gained considerable popularity among our customers. Our clients are looking for reliable identification of rare variances, improved insights into challenging genomic regions, and top-notch calls for structural variants," said Dr. Andreas Scherer, President and Chief Executive Officer of Golden Helix Inc. "We're excited to collaborate with PacBio to offer a comprehensive solution to the market."

PacBio Compatible works with a wide range of organizations to ensure customers can find verified products that are complementary to their workflows for PacBio sequencing. Partners collaborate closely with PacBio scientists to provide seamless integration and support for customers who are just starting out with PacBio or expanding their current capabilities.

About PacBio
PacBio (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 technologies stem 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 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.

PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.

Forward-Looking Statements
This press release contains "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 relating to the uses, third-party compatibility, cost advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies; the ability to leverage PacBio HiFi data for disease research and provide complete solutions and end-to-end workflows; the acceleration of discoveries, interpretations and solutions; the impact of PacBio sequencing on human health; and other forward-looking statements. Reported results and orders for any instrument system should not be considered an indication of future performance. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties and could cause actual outcomes and results to differ materially from currently anticipated results, including, challenges inherent in developing, manufacturing, launching, marketing and selling new products; rapidly changing technologies and extensive competition in genomic sequencing; unanticipated increases in costs or expenses; interruptions or delays in the supply of components or materials for, or manufacturing of, PacBio products and products under development; potential product performance and quality issues and potential delays in development timelines; the possible loss of key suppliers; and, third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio's patents or proprietary rights. 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 caption "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 events or circumstances in the future, even if new information becomes available.

Contacts

Investors:
Todd Friedman
[email protected]

Media:
Lizelda Lopez
[email protected]

¹ Ebert, P. et al. (2021) Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science. (available here: https://pubmed.ncbi.nlm.nih.gov/33632895/)

SOURCE Pacific Biosciences of California, Inc.