Jonas Korlach, CSO at PacBio
Tomi Pastinen, Director, Genomic Medicine Center at Children’s Mercy Research Institute, Kansas City
0:00 5 base sequencing - two pillars of genomics
6:23 Ultimate tool for researching rare diseases?
8:08 Updating epigenetics - more than half inherited
16:33 Translation to the clinic
21:22 Unlocking functional as well as structural genomics
26:48 A tools company evolves
Pacific Biosciences has introduced a new method for detecting DNA methylation simultaneously with DNA sequencing. They are calling it 5-base sequencing.
Today on the program, Jonas Korlach, PacBio’s Chief Scientific Officer, and Tomi Pastinen, the Director of the Genomic Medicine Center at Children’s Mercy Research Institute in Kansas City join us to describe the new breakthrough and connect it to clinical possibilities.
"I believe this is the first step for linking epigenetic sequencing and DNA sequencing in a high-resolution view of function and genetic variation. This has potential in rare and complex diseases, and perhaps even more with the latter because we know that 90% of susceptibility to common disease is encoded in the regulatory DNA rather than the coding DNA,” says Dr. Pastinen.
In a revelatory interview, Dr. Pastinen says that our understanding of the epigenome has changed in recent years. Scientists thought epigenetics were “environmental perturbations of the genome for a long time." But his new work has shown that “more than half of the epigenetic variation we see across individuals is encoded in the genome in the DNA bases themselves.”
Before now, there was no way to look at this in parallel, which according to Jonas Korlach of PacBio, “straight out of the box, along with the sequencing data comes the information of the methylation marks. And what’s exciting is that it’s a software update. It comes completely for free.”