HiFi Long-Read Sequencing Panel Supports Comprehensive Analysis of 20 Genes Associated With Neurological Disease
MENLO PARK, Calif., March 12, 2024 /PRNewswire/ — PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the PureTarget repeat expansion panel, a new solution designed to enable the comprehensive analysis of 20 genes associated with serious neurological disorders, including challenging-to-sequence genes with tandem repeat expansions. The new long-read workflow can minimize iterative analysis using legacy technology, and reduce the time needed to identify disease-causing variants and associated methylation signatures.
"HiFi sequencing is uniquely capable of comprehensively characterizing the germline and somatic variation of tandem repeats1 which cause dozens of neurological diseases.2 Our new PureTarget repeat expansion panel is designed to target these repeat expansions to help our customers understand the underpinnings of tandem repeats," said Christian Henry, President and Chief Executive Officer of PacBio. "This product uses a differentiated method to do targeted long-read sequencing of DNA in its pure state. PureTarget libraries retain methylation signatures, which saves our customers from having to run a separate assay while providing a complete picture for disease genes like FMR1. With a simplified workflow and fast turnaround time, we believe this panel could bring PacBio an increased commercial opportunity in the form of tens of thousands of samples in the world’s largest laboratories."
Targeted sequencing is an ideal method for researchers and commercial laboratories looking to cost-effectively study and analyze the role of specific genes and gene variants. The 20 genes that comprise the PureTarget repeat expansion panel are implicated in a wide range of debilitating neurological diseases that afflict children and adults including ataxia, Huntington’s disease, myotonic dystrophy, amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and Fragile-X disease.
"This new kit has opened up really exciting opportunities for our research program focused on repeat expansions and inherited eye disease," said Alice Davidson, Associate Professor at University College London. "The relatively lower DNA input requirements, coupled with high read depth output, has allowed us to uncover levels of repeat mosaicism and instability at our repeat locus of interest with affected cell populations."
Continuing the commitment to deliver comprehensive solutions, PacBio has prioritized delivering end-to-end workflows with their latest products. The PureTarget Repeat Expansion Panel workflow utilizes the recently announced Nanobind PanDNA kit, ensuring robust results optimized for Revio and Sequel IIe users. Customers can multiplex up to 48 samples on the PacBio Revio sequencing system and 24 samples on the PacBio Sequel IIe sequencing system. Additionally, PacBio provides intuitive data analysis for genotyping through a new workflow driven by Tandem Repeat Genotyping Tools (TRGT), as recently featured in Nature Biotechnology.
The new PureTarget panel is expected to be available for shipment starting March 25, 2024. More information about PacBio application kits is available here.
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 availability or expected availability, uses, coverage, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies, including the PureTarget Repeat Expansion Panel; expectations with respect to commercialization, market opportunities, anticipated reductions in customer time and costs to identify variants of interest, and the development and shipment of PacBio products, including the PureTarget Repeat Expansion Panel; among 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 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; 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; third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio’s patents or proprietary rights; and other risks associated with general macroeconomic conditions and geopolitical instability. 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.
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SOURCE Pacific Biosciences of California, Inc.