PacBio discloses intentions to enhance methylation recognition in HiFi chemistry methodology
PacBio Enhances DNA Methylation Detection with New Technology
PacBio, a leading sequencing platform provider, has announced a significant advancement in its technology, thanks to a licensing agreement with The Chinese University of Hong Kong (CUHK) and Centre for Novostics. This enhancement empowers PacBio's Revio and Vega systems with improved direct DNA methylation detection capabilities in PacBio's HiFi sequencing chemistry.
The new technology leverages PacBio's high-fidelity long-read sequencing framework to detect DNA methylation directly, bypassing the labor-intensive and less direct bisulfite treatment. This integration into Revio and Vega systems enhances the throughput and accuracy of methylation detection within routine genome sequencing workflows.
The advancement supports broader applications in epigenomics, including complex disease research and precision medicine. The licensed technology includes an enhanced AI deep learning framework called Holistic Kinetic Model 2 (HK2), which improves the accuracy of 5mC and N6-methyladenine (6mA) detection and introduces native 5hmC calling in single molecules.
PacBio's native detection method maintains DNA integrity and supports haplotype-resolved analysis in complex genomic regions. Unlike chemical-based methods such as bisulfite or TAPS sequencing, the native detection method by PacBio does not degrade DNA or diminish phasing and structural context.
The licensed technology aims to enhance PacBio's HiFi sequencing with improved detection of DNA base modifications, including 5-hydroxymethylcytosine (5hmC) and hemimethylated 5-methylcytosine (5mC). 5hmC, a dynamic and tissue-specific epigenetic mark, is implicated in brain development, cancer, and neurodegenerative diseases. The technology allows for strand-specific 5mC analysis, opening opportunities to study hemimethylation, an emerging epigenetic signal.
Mark Van Oene, Chief Operating Officer at PacBio, stated that this capability empowers researchers to ask more sophisticated questions and uncover new biology. PacBio has already introduced on-instrument 5mC detection in April 2022 and extended support to 6mA in December 2024 for Fiber-seq chromatin architecture studies. The company plans to bring these capabilities to its Revio and Vega systems, extending its existing 5mC support for more comprehensive epigenomic insights.
This advancement builds upon PacBio's strength in delivering highly accurate, long DNA reads, combining that with innovative methylation detection methods originating from CUHK and Centre for Novostics' research. The technology opens new frontiers in liquid biopsy, cancer detection, and cell-free DNA analysis. PacBio has already gained the support of pioneering institutions like Children's Mercy Kansas City for clinical settings and GeneDx for investigating the diagnostic potential of epigenetic signals in neonatal care.
- The new technology developed by PacBio, utilizing its Revio and Vega systems and the licensed HK2 AI deep learning framework, is revolutionizing digital health and science by enabling more accurate detection of DNA base modifications, contributing to health-and-wellness advancements through the study of complex medical-conditions like brain development, cancer, and neurodegenerative diseases.
- The integration of this technology into PacBio's sequencing platform empowers the company's vision for technology-driven health solutions, offering novel insights into epigenomic research, liquid biopsy, cancer detection, and cell-free DNA analysis, thereby shaping the future of medical-conditions diagnosis and treatment.
