New sequencing approach resolves the genetic complexity of a rare Mendelian condition
MENLO PARK, Calif., Jan. 29, 2025 (GLOBE NEWSWIRE) — PacBio (NASDAQ: PACB), a leader in high-quality, long-read sequencing, is proud to announce its critical role in a study to be published in Nature Genetics. The study, titled Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition, showcases how researchers leveraged PacBio’s advanced sequencing solutions, including the synchronized Fiber-seq and Kinnex (formerly MAS-seq) multiomic approach, to uncover the genetic and molecular basis of a rare and complex Mendelian condition.
In collaboration with the University of Washington and the Undiagnosed Diseases Network (UDN), the study applied PacBio’s state-of-the-art Revio™ sequencing system to integrate long-read genomic, transcriptomic, methylomic, and epigenomic data in a synchronized analysis to analyze a 9-month-old patient with an unsolved condition involving bilateral retinoblastomas, developmental delays, and additional symptoms. Previous diagnostic methods, including short-read sequencing, were unable to provide an answer. With PacBio’s innovative multiomic solutions, researchers identified a chromosome X;13 balanced translocation disrupting four key genes—each through a unique molecular mechanism.
“This study highlights the power of highly accurate long-read multiomic sequencing in understanding the genetic mechanisms behind complex rare diseases,” said Andrew B. Stergachis, MD, PhD, senior author and associate professor at the University of Washington. “By integrating genomic, transcriptomic, epigenomic, and methylomic data in a single analysis, we were able to pinpoint multiple molecular disruptions contributing to this rare Mendelian condition—findings that would have been impossible with traditional approaches.”
Key Findings Enabled by PacBio Technology:
- Synchronized Multiomic Sequencing: For the first time, a single sequencing run provided simultaneous insights into genome, methylome, epigenome, and transcriptome data, eliminating the need for redundant experiments.
- Resolution of Complex Mechanisms: PacBio’s long-read accuracy uncovered a range of pathogenic events, including fusion transcripts, enhancer adoption, transcriptional readthrough silencing, and epigenetic disruptions—offering a complete genomic picture of the disease.
- Haplotype-Specific Insights: The technology allowed precise phasing of genetic, epigenetic, and transcriptomic features, crucial for understanding the functional impact of rare variants.
“This is the kind of transformative research we’re passionate about enabling,” said David Miller, Vice President of Global Marketing at PacBio. “The ability to replace multiple legacy assays and simultaneously analyze the genome, methylome, epigenome, and transcriptome in high resolution is a testament to how far HiFi sequencing technology has come. With the latest Revio system and SPRQ chemistry updates launched at ASHG, scientists now have the tools to uncover answers that were previously out of reach. It’s thrilling to see this technology driving real-world impact.”
This study, spearheaded by a team of renowned researchers including Mitchell R. Vollger, Andrew B. Stergachis, and others, highlights the collaboration between leading institutions such as the University of Washington Center for Mendelian Genomics (UW-CMG) and the Undiagnosed Diseases Network (UDN). Their collective expertise is helping shape the future of genomics, advancing the ability of health care providers to diagnose and treat rare genetic diseases.
The findings are available here.
For more information on how PacBio’s Revio system is redefining multiomics research, visit pacb.com/revio.
About Pacific Biosciences
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 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 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, coverage, advantages, and benefits or expected benefits of using, PacBio products or technologies, including researchers’ ability to help shape the future of genomics and advance the ability of health care providers to diagnose and treat rare genetic diseases; 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 outcomes and results to differ materially from currently anticipated results, including, the difficulty of generating discoveries in complicated areas of biology; potential performance, quality and regulatory issues; 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.
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