PacBio Announces Complete Computational Workflow for Human Whole Genome Sequencing Data Analysis

2023-10-11

PacBio WGS Variant Pipeline Will Bring Standardization to PacBio HiFi Data Analysis MENLO PARK, Calif., Oct. 11, 2023 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the availability of PacBio WGS Variant Pipeline – a complete, standardized computational method for HiFi whole genome sequencing (WGS) data analysis. The new software pipeline will enable customers to resolve many different variant types, including single-nucleotide polymorphisms, insertions and deletions, structural variants, tandem repeats, segmental duplications, and copy number variants, in addition to providing methylation and phasing data, all in a single bioinformatic solution – making it the most complete human WGS secondary analysis pipeline available. The single computational workflow integrates PacBio and third-party tools, including TRGT, Paraphase, and Google DeepVariant, in an intuitive user interface, offering customers a best-practice for HiFi WGS analysis. Previously, PacBio customers would need to use multiple bioinformatic tools to analyze HiFi data. With the new PacBio WGS Variant Pipeline, PacBio offers a streamlined and supported tool to access alignment, variant calling, joint calling, and genome annotation data across Amazon Web Services, Google Cloud, Azure, and on-premise high performance computing solutions. "PacBio is focused on developing the most advanced sequencing technologies. This mission extends not only to providing our customers game-changing sequencers, but also delivering comprehensive analytical tools to interpret sequencing data," said Christian Henry, President and Chief Executive Officer of PacBio. "This is the first and most complete HiFi pipeline that integrates PacBio and third-party tools into a single, high-powered, bioinformatics solution, which will help our customers realize the full power of our Revio system and HiFi data, and allow them to spend more time on biological discovery." "In our initial testing, we've found the PacBio WGS Variant Pipeline could be quickly adapted by running samples through the workflow to advance our rare disease-focused research," said Tomi Pastinen, MD, PhD., Director, Genomic Medicine Center, Children's Mercy Kansas City. "We also appreciate that the workflow is compatible with additional, optional tools to run in select samples, for example, personal assemblies." These workflows are accessible through bioinformatics analysis platforms from DNAnexus, Form Bio, Terra, and DNAstack. These platforms have been vetted by both the PacBio and DNAstack computational biology teams and allow users to run bundled workflows in a turn-key manner. DNAstack, DNAnexus and Form Bio also enable users to access other PacBio bioinformatic workflows, including AAV QC, TRGT and Paraphase. "PacBio making these streamlined and runnable workflows expands access to informatics methods through the community," said Andrew Carroll, Genomics Product Lead for Health AI at Google. "Google is honored for DeepVariant to be included, and that PacBio and ourselves share the value of democratizing access to genome analysis at high accuracy." PacBio WGS Variant Pipeline will be available through GitHub. For more information about the PacBio WGS Variant Pipeline, visit . 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 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 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, accuracy, coverage, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies, including the PacBio WGS Variant Pipeline; ability to enable customers to resolve many different variant types; developing advanced sequencing technologies and tools to interpret sequencing data; and other forward-looking statements. 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 performance and quality issues; rapidly changing technologies and extensive competition in genomic sequencing that could make products obsolete or non-competitive; and third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate patents or proprietary rights. Readers are strongly encouraged to read the full cautionary statements contained in PacBio's filings with the Securities and Exchange Commission, including the risks set forth in PacBio's Forms 8-K, 10-K, and 10-Q. PacBio disclaims any obligation to update or revise any forward-looking statements. Contacts Investors: Todd Friedman ir@pacificbiosciences.com Media: Lizelda Lopez pr@pacificbiosciences.com Company Codes: NASDAQ-NMS:PACB