PacBio has announced the release of a transformative capability to detect DNA methylation using the Sequel IIe and Sequel II systems. This extends the firm's HiFi sequencing technology to now include access to the epigenome, a second layer of genomic information often left unexplored due to fundamental limitations of common sequencing technologies. PacBio’s single-molecule approach provides a much more holistic view of molecular behaviour during sequencing. Subtle patterns in this rich information allow detection of modified bases in native DNA during standard HiFi sequencing. As a result, scientists gain access to the epigenome with zero additional cost, effort, or complexity. This advance will unlock important new opportunities across a broad range of applications in fundamental and applied biological science.
This update also includes a range of workflow improvements to enhance customer experience, such as simplified, unified and accelerated library preparation workflows and consumables, live instrument performance monitoring, and on-instrument analysis support for recombinant adeno-associated virus (rAAV) genome sequencing, a rapidly growing biopharmaceutical application relevant to gene therapy and vaccine development research.
“With each product release we continue to improve the utility and value of the Sequel II and IIe platform,” said Christian Henry, President and Chief Executive Officer of PacBio. “Our latest enhancements to the Sequel II and IIe platform, including five-base sequencing and improved workflows are expected to both simplify the ability to generate high quality data and enable deeper insights into the complexity of the genome.
“Multiple tests are currently required to evaluate rare disease cases for sequencing and methylation variation. HiFi sequencing has the potential to change that by measuring both genetic and epigenetic variation across the full genome in a single experiment. We have had success using five-base HiFi sequencing at Children’s Mercy Kansas City to identify abnormal methylation in repeat expansion cases, and we plan to apply it to all the future genomes we sequence. It is exciting to access another aspect of the genome without needing to change sample handling or sequencing procedures,” said Emily Farrow, PhD, CGC, Director of Laboratory Operations at Children’s Mercy Kansas City and Associate Professor of Pediatrics at University of Missouri Kansas City School of Medicine.