Pacific Biosciences of California, Inc. (PACB), Monday announced that it has licensed novel deep learning-based DNA methylation detection technology from The Chinese University of Hong Kong or CUHK to significantly enhance the capabilities of its HiFi sequencing platforms, Revio and Vega.
PacBio said the technology, developed by Professor Dennis Lo and his team at CUHK and the Centre for Novostics, enables highly accurate detection of key epigenetic modifications—including 5-hydroxymethylcytosine (5hmC), strand-specific 5-methylcytosine (5mC), and N6-methyladenine (6mA)—from native DNA, without requiring chemical conversion or additional workflows.
The technology is powered by an advanced AI framework called the Holistic Kinetic Model 2 (HK2), which combines convolutional and transformer neural networks to interpret local and long-range DNA kinetics, delivering a new level of accuracy in methylation detection.
"By enabling high-resolution, native detection of 5mC, 6mA, and 5hmC, we're empowering researchers to ask more sophisticated questions and uncover new biology," said Mark Van Oene, Chief Operating Officer of PacBio.
"PacBio was the first to detect native epigenetic modifications alongside accurate DNA sequencing. With the integration of the CUHK deep learning models, our technology will be able to detect many additional and biologically meaningful methylation signatures," added Christian Henry, President and CEO of PacBio.
The company noted that the enhanced methylation calling features will be delivered through a future software update, at no added cost to customers and without any changes to current sample preparation or sequencing protocols.
Professor Lo emphasized that the ability to detect 5hmC and hemimethylated 5mC in native DNA molecules is critical for advancing clinical research in diseases such as cancer and neurodegenerative disorders, noting, "With the improvements enabled by HK2, methylation calling with PacBio HiFi sequencing is poised to set a new standard for accuracy in the industry."
HiFi sequencing is already being used in clinical and translational settings by institutions such as Children's Mercy Kansas City and GeneDx, which are leveraging the platform for comprehensive genome and epigenome analysis in neonatal and pediatric care.
PacBio expects to roll out the new capabilities later in 2025.
Currently, PACB is trading at $1.14 up by 4.59 percent on the Nasdaq.
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