PacBio unveils plans for advances in methylation identification through their HiFi chemistry technology
PacBio, a leading provider of high-quality sequencing platforms, has announced a significant advancement in its DNA methylation detection capabilities. The company has licensed advanced epigenetic detection methods from The Chinese University of Hong Kong (CUHK), enabling it to integrate sophisticated single-molecule, real-time (SMRT) sequencing-based methylation detection technologies.
This partnership has resulted in enhanced sensitivity and accuracy in the direct detection of DNA methylation marks during long-read sequencing. PacBio’s platforms, particularly the Sequel II and Revio systems, will now provide higher consensus accuracy and uniform genome coverage while directly identifying epigenetic modifications without additional chemical treatments or separate assays.
Improved Epigenomic Profiling and Disease Studies
The new capabilities will enable researchers to detect and map methylated cytosines (e.g., 5mC) and other DNA modifications directly alongside the primary DNA sequence. This leads to more comprehensive genomic and epigenomic analyses in human, plant, animal, and microbial samples.
The improved methylation detection will facilitate studies into gene regulation, cancer epigenetics, developmental biology, and complex genetic disorders by controlling for epigenetic context simultaneously with structural variant and sequence variant discovery.
Streamlined Workflows and Research Acceleration
Integrating methylation detection into PacBio’s SMRT sequencing reduces complexity and cost compared to separate bisulfite or enrichment-based methylation assays. This makes epigenetics more accessible at scale in both research and clinical settings.
The new capabilities will support the discovery of epigenetic variants and regulators underlying disease phenotypes, complementing PacBio’s advances in long-read whole genome sequencing in undiagnosed diseases and population genomics.
New Opportunities in Strand-Specific 5mC Analysis
The licensed technology also includes HK2, an enhanced AI deep learning framework, which significantly improves the accuracy of 5mC and N6-methyladenine (6mA) detection and introduces native 5hmC calling in single molecules. HK2 will enable strand-specific 5mC analysis, opening new opportunities to study hemimethylation, an emerging epigenetic signal.
The Future of DNA Methylation Research
The ability to profile 5hmC, a dynamic and tissue-specific epigenetic mark, opens new frontiers in liquid biopsy, cancer detection, and cell-free DNA analysis. PacBio introduced on-instrument 5mC detection in April 2022 and extended support to 6mA in December 2024 for Fiber-seq chromatin architecture studies.
Mark Van Oene, Chief Operating Officer at PacBio, stated that the new capability empowers researchers to ask more sophisticated questions and uncover new biology. The new capabilities from the HK2 model will be delivered to existing customers through software updates, with no changes to sequencing protocols and no additional cost.
With these advancements, PacBio continues to push the boundaries of what is possible in DNA methylation research, providing new insights into how DNA methylation influences genome function and phenotype.
[1] [Reference for advances in long-read whole genome sequencing in undiagnosed diseases] [2] [Reference for advances in population genomics]
- The partnership between PacBio and The Chinese University of Hong Kong (CUHK) has expanded the capabilities of digital health technology, allowing for more detailed studies of medical-conditions such as cancer and complex genetic disorders through advanced epigenetic detection methods.
- The integration of sophisticated single-molecule, real-time (SMRT) sequencing-based methylation detection technologies into PacBio’s platforms will leverage science and technology to streamline workflows in both research and clinical settings, contributing to the acceleration of studies in digital health and the discovery of epigenetic variants and regulators underlying various medical-conditions.
