New Iso-Seq data from ~1,000 samples to expand transcriptomic insights using highly accurate HiFi sequencing
| Source: PacBio
MENLO PARK, Calif., July 23, 2025 (GLOBE NEWSWIRE) — PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced it has joined the 1000 Genomes Long Read Sequencing Project, which will involve contributing long-read transcriptome data to one of the world’s most expansive human genomics initiatives. In collaboration with the laboratories of Danny Miller, MD, PhD, Evan Eichler, PhD, at the University of Washington, and Rajiv McCoy, PhD at the McCoy Lab at Johns Hopkins University, PacBio will contribute full-length isoform sequencing using its Kinnex RNA kits and Revio sequencing platform.
The collaboration will add Iso-Seq data for approximately 1,000 samples from the 1000 Genomes cohort, offering new transcript-level views across a globally diverse and deeply characterized human population. By expanding the functional layer of this foundational reference, the project aims to support more accurate interpretation of gene expression, splicing, and regulatory elements across populations and to provide a shared resource for tool development and benchmarking for the broader genetics community.
“Adding full-length isoform sequencing to the 1000 Genomes Project represents a unique opportunity to enrich this foundational resource,” said Dr. Miller, Assistant Professor at the University of Washington and lead investigator of the project. “This effort will deliver a dataset and analysis framework that supports diverse applications, from basic biology to rare disease diagnostics. By integrating isoform-level information, we’ll be better positioned to understand gene regulation, alternative splicing, and the transcriptomic complexity that underlies human health and disease.”
Sequencing is being carried out on 1,000 cell lines using PacBio’s Kinnex RNA kits and Revio long-read platform, with each sample expected to yield around 10 million full-length transcript reads. Work is underway at both the Eichler Lab at the University of Washington and the Seattle Children’s Research Institute, with additional analysis support from the McCoy Lab at Johns Hopkins University. Together, the collaborators aim to deliver a high-quality, open-access RNA resource and build scalable bioinformatics pipelines to support the fast-growing long-read transcriptomics field.
“Isoform sequencing is one of the most powerful applications of our HiFi technology,” said David Miller, Vice President of Global Marketing at PacBio. “We are incredibly excited to support this important initiative with our partners at the University of Washington and Seattle Children’s. This collaboration underscores the value of long-read sequencing in understanding human biology and brings us closer to realizing the full potential of long-read genomes and transcriptomes.”
In addition to generating new scientific insights, the project prioritizes transparency, open data, and tool development. All sequencing data and analysis pipelines will be made publicly available to promote reproducibility and accelerate downstream research. The group plans to present early findings from this work at the upcoming American Society of Human Genetics (ASHG) conference.
This effort continues the 1000 Genomes Long Read Sequencing Project’s commitment to building open and globally representative genomic resources to advance equity, access, and innovation in human genetics research.
For more information about the 1000 Genomes Long Read Project, visit https://millerlaboratory.com/1KGP-LRS.html.
About PacBio
PacBio (NASDAQ: PACB) is a premier life science technology company that designs, develops, and manufactures advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies, which include our HiFi long-read sequencing, 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 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, advantages, quality or performance of, the benefits or expected benefits of using, PacBio products or technologies, including in connection with the 1000 Genomes Long Read Sequencing Project by providing isoform sequencing data from the 1000 Genomes cohort; being better positioned to understand gene regulation, alternative splicing and transcriptomic complexity; delivering resources and building pipelines; public availability of sequencing data and analysis pipelines; fast-growing long-read transcriptomics field; realizing the potential of long-read genomes; and other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties that could cause actual outcomes and results to differ materially from currently anticipated results. These risks include, but are not limited to, risks inherent in developing and commercializing new technologies; 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; 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.
About the Miller Lab
The Miller Lab at the University of Washington focuses on advancing genomics in clinical diagnostics, particularly in the context of rare diseases. The lab is committed to developing tools and resources that democratize access to cutting-edge genomic technologies.
Contacts (Miller Lab)
Danny E. Miller
dm1@uw.edu
Contacts (PacBio)
Investors:
Todd Friedman
ir@pacificbiosciences.com
Media:
pr@pacificbiosciences.com
