PacBio Technology Powers Landmark Multiomic Study Published in Nature Genetics
PacBio (NASDAQ: PACB) announced its key role in a groundbreaking study published in Nature Genetics that successfully resolved a complex rare Mendelian condition using their advanced sequencing technology. The research, conducted in collaboration with the University of Washington and the Undiagnosed Diseases Network, utilized PacBio's Revio™ sequencing system to analyze a 9-month-old patient with bilateral retinoblastomas and developmental delays.
The study employed PacBio's synchronized Fiber-seq and Kinnex multiomic approach, which uniquely integrated long-read genomic, transcriptomic, methylomic, and epigenomic data in a single analysis. This comprehensive approach identified a chromosome X;13 balanced translocation affecting four key genes, each through different molecular mechanisms - a discovery that previous diagnostic methods, including short-read sequencing, failed to detect.
PacBio (NASDAQ: PACB) ha annunciato il suo ruolo fondamentale in uno studio innovativo pubblicato su Nature Genetics, che ha risolto con successo una complessa condizione mendeliana rara utilizzando la propria tecnologia di sequenziamento avanzata. La ricerca, condotta in collaborazione con l'Università di Washington e la Rete delle Malattie Non Diagnosticate, ha utilizzato il sistema di sequenziamento Revio™ di PacBio per analizzare un paziente di 9 mesi con retinoblastomi bilaterali e ritardi nello sviluppo.
Lo studio ha impiegato l'approccio multiomico Fiber-seq e Kinnex di PacBio, che ha integrato in modo unico dati genomici, trascrittomici, metilomici ed epigenomici a lettura lunga in un'unica analisi. Questo approccio completo ha identificato una traslocazione bilanciata sul cromosoma X;13 che interessa quattro geni chiave, ciascuno attraverso diversi meccanismi molecolari - una scoperta che i metodi diagnostici precedenti, compreso il sequenziamento a lettura corta, non sono riusciti a rilevare.
PacBio (NASDAQ: PACB) anunció su papel clave en un estudio innovador publicado en Nature Genetics que resolvió con éxito una compleja condición mendeliana rara utilizando su tecnología de secuenciación avanzada. La investigación, realizada en colaboración con la Universidad de Washington y la Red de Enfermedades No Diagnosticadas, utilizó el sistema de secuenciación Revio™ de PacBio para analizar a un paciente de 9 meses con retinoblastomas bilaterales y retrasos en el desarrollo.
El estudio empleó el enfoque multiómico Fiber-seq y Kinnex de PacBio, que integró de manera única datos genómicos, transcriptómicos, metilómicos y epigenómicos en una sola análisis. Este enfoque integral identificó una translocación equilibrada en el cromosoma X;13 que afecta a cuatro genes clave, cada uno a través de diferentes mecanismos moleculares; un hallazgo que los métodos diagnósticos anteriores, incluido el secuenciamiento de lectura corta, no pudieron detectar.
PacBio (NASDAQ: PACB)는 그들의 첨단 시퀀싱 기술을 사용하여 복잡한 희귀 멘델리안 질환을 성공적으로 해결한 혁신적인 연구가 Nature Genetics에 발표되었다고 발표했습니다. 이 연구는 워싱턴 대학교 및 진단되지 않은 질병 네트워크와 협력하여 수행되었으며, PacBio의 Revio™ 시퀀싱 시스템을 사용하여 양측 망막모세포종과 발달 지연이 있는 9개월 된 환자를 분석했습니다.
이 연구는 PacBio의 동기화된 Fiber-seq 및 Kinnex 다중 오믹스 접근 방식을 사용하였으며, 이는 장기 읽기 유전체, 전사체, 메틸체 및 후생유전체 데이터를 단일 분석으로 독창적으로 통합했습니다. 이 포괄적인 접근 방식은 X;13 염색체의 균형 잡힌 전위성을 식별하였고, 이는 네 개의 주요 유전자에 영향을 미치며 각각 다른 분자 메커니즘을 통해 작용합니다. 이는 단기 읽기 시퀀싱을 포함한 이전의 진단 방법이 발견하지 못한 발견입니다.
PacBio (NASDAQ: PACB) a annoncé son rôle clé dans une étude révolutionnaire publiée dans Nature Genetics, qui a résolu avec succès une condition mendélienne rare complexe en utilisant sa technologie de séquençage avancée. La recherche, réalisée en collaboration avec l'Université de Washington et le Réseau des Maladies Non Diagnostiquées, a utilisé le système de séquençage Revio™ de PacBio pour analyser un patient de 9 mois présentant des rétinoblastomes bilatéraux et des retards de développement.
L'étude a employé l'approche multiomique Fiber-seq et Kinnex de PacBio, qui a intégré de manière unique des données génomiques, transcriptomiques, méthylomiques et épigénomiques à lecture longue dans une seule analyse. Cette approche globale a identifié une translocation équilibrée sur le chromosome X;13 affectant quatre gènes clés, chacun par le biais de différents mécanismes moléculaires - une découverte que les méthodes de diagnostic précédentes, y compris le séquençage à lecture courte, n'ont pas pu détecter.
PacBio (NASDAQ: PACB) gab bekannt, dass es eine Schlüsselrolle in einer bahnbrechenden Studie gespielt hat, die in Nature Genetics veröffentlicht wurde und erfolgreich eine komplexe seltene mendelsche Erkrankung mit ihrer fortschrittlichen Sequenzierungstechnologie gelöst hat. Die Forschung, die in Zusammenarbeit mit der Universität Washington und dem Netzwerk der nicht diagnostizierten Krankheiten durchgeführt wurde, nutzte das Revio™ Sequenzierungssystem von PacBio, um einen 9 Monate alten Patienten mit bilateralem Retinoblastom und Entwicklungsverzögerungen zu analysieren.
Die Studie verwendete den synchronisierten Fiber-seq- und Kinnex-Multiomics-Ansatz von PacBio, der einzigartig lange, genomische, transkriptomische, metylomische und epigenomische Daten in einer einzigen Analyse integrierte. Dieser umfassende Ansatz identifizierte eine ausgewogene Translokation auf dem Chromosom X;13, die vier wichtige Gene betraf, und zwar jeweils durch unterschiedliche molekulare Mechanismen – eine Entdeckung, die frühere diagnostische Methoden, einschließlich der Kurzlesesequenzierung, nicht erkennen konnten.
- Successfully identified complex genetic mechanisms in a rare disease case where traditional methods failed
- Demonstrated capability to perform multiple analyses in a single sequencing run, potentially reducing costs and time
- Showcased real-world application and effectiveness of the Revio system in clinical research
- None.
Insights
The publication in Nature Genetics marks a pivotal advancement in PacBio's technological capabilities and market positioning. The breakthrough study demonstrates significant advantages of their Revio™ system and SPRQ chemistry in complex genetic analysis, particularly where conventional short-read sequencing methods have failed.
The key technological differentiator lies in the synchronized multiomic approach, which eliminates the need for multiple separate assays. This translates to:
- Reduced time and cost for genetic analysis
- More comprehensive and accurate diagnostic results
- Potential expansion into the $2.9 billion rare disease genetic testing market
The collaboration with prestigious institutions like the University of Washington and the Undiagnosed Diseases Network enhances PacBio's credibility in the clinical diagnostics sector. The successful identification of complex genetic mechanisms in this case study could lead to increased adoption of PacBio's technology in clinical settings, particularly for challenging cases where traditional methods fall short.
However, investors should note that while this technological advancement is significant, the company faces challenges in a competitive market dominated by larger players. The success of this study could help differentiate PacBio's offerings, but market penetration and revenue growth will depend on broader adoption by clinical laboratories and research institutions.
The technical specifications of PacBio's latest sequencing capabilities represent a quantum leap in genetic analysis technology. The integration of Fiber-seq and Kinnex technologies addresses critical limitations in traditional sequencing methods:
- Single-run multimodal analysis capabilities reduce laboratory workflow complexity
- Enhanced accuracy in detecting complex genetic variations
- Superior haplotype-specific insights enable more precise genetic analysis
The recent SPRQ chemistry updates and Revio system improvements demonstrate PacBio's commitment to continuous innovation. This technological advancement could significantly reduce the cost per analysis while improving diagnostic yield, making it more attractive to clinical laboratories and research institutions.
The platform's ability to identify multiple molecular disruptions simultaneously positions it as a potentially superior solution for complex genetic analysis. This could lead to increased market share in specialized diagnostic settings where comprehensive genetic analysis is crucial.
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.
Contacts:
PacBio
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Todd Friedman, IR@pacificbiosciences.com
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FAQ
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