A new podcast from Mendelspod features an interesting interview with Barrett Bready, CEO of electronic mapping firm Nabsys, who emphasizes the growing need to incorporate structural variation data into genome studies.
In the discussion, Bready describes his company’s platform, which relies on voltage-powered, solid-state nanodetectors to generate map-level information. Each nanodetector can cover 1 million bases per second, Bready said, and can be multiplexed for a highly scalable system. It’s a “really high-speed, highly scalable way of getting structural information,” he added.
Bready noted that the genomics community has realized the need for long-range information, estimating that known structural variants now make up about 60 Mb of the human genome, a number that has increased rapidly in the last few years even as the amount of sequence attributed to single-nucleotide variants has stayed the same. Nabsys aims to democratize access to structural information by producing a cost-effective mapping tool for routine analysis of these large variants.
This information will complement short-read data, Bready said, which necessarily sacrifices assembly contiguity due to the need to cut DNA into small fragments prior to sequencing. The Nabsys platform works with high molecular weight DNA to capture extremely long-range information. He also said that electronic mapping data offers more value than optical mapping technologies.
Beta testing for the new platform is expected to begin early next year.