In May, Pacific Biosciences introduced new analysis software for its PacBio RS High Resolution Genetic Analyzer to detect epigenetics modifications, which can provide information on biological processes such as aging, disease development and immunity. The new software measures the kinetics of base addition during sequencing, which allows for sequencing of a variety of base modifications, as opposed to bisulfite sequencing, which studies only cytosine methylation. “The new analysis software is able to automatically detect sites on the sequence where the polymerase kinetics was altered in some fashion and flag those sites for further study by researchers,” explained Product Manager Robert Tapella. “This is a crucial first step in PacBio’s quest to provide a sequencing platform that can distinguish more than the four canonical nucleotide bases.”

The software allows scientists to study DNA-damage modifications caused by free radicals, ionizing radiation and substances like cigarettes or chemotherapy drugs. “We expect that with the new capability provided by the PacBio RS, biologists will be able to discover more effects of DNA base modification in a variety of organisms,” said Mr. Tapella.

The software includes an in silico control to normalize natural variation in DNA polymerase kinetics. “[Before the software,] the only means to normalize this variation was to run an additional sequencing reaction on the instrument with unmodified DNA, and then compare the native DNA-sequencing kinetics to the unmodified DNA kinetics,” said Mr. Tapella. Old data can be reanalyzed with the upgrade, which users can download for free on PacBio’s website.