Nabsys creates long-range, non-optical maps of entire human genomes

NABSYS founder Dr. Barrett Bready said the firm recently completed a project generating the world’s first long-range, non-optical maps of whole human genomes. / COURTESY NABSYS
NABSYS founder Dr. Barrett Bready said the firm recently completed a project generating the world’s first long-range, non-optical maps of whole human genomes. / COURTESY NABSYS

PROVIDENCE – Nabsys, a genomics firm, recently completed a project generating the world’s first long-range, non-optical maps of entire human genomes.
“What the Nabsys team has achieved is both important and difficult. Even Elon Musk lost money trying to achieve long-range, non-optical genome mapping,” Nabsys Founder and CEO Dr. Barrett Bready said Friday.
Nabsys, which closed last September only to reform a month later, returned to its original mission at that time with Bready again at the helm – to develop the company’s high-definition electronic DNA mapping platform. Bready left the company in 2014.
Bready, in a phone interview, explained that the project expands the type of variation that can be seen in a genome, and described it as a “good automated way to see larger changes.” The high-definition electronic HD-mapping platform can be used in research and clinical settings, he said.
The project was conducted in collaboration with the Genome in a Bottle consortium, a public-private-academic consortium hosted by the National Institute of Standards and Technology to develop the technical infrastructure to enable translation of whole human genome analysis to clinical practice. Nabsys’ results were presented during a consortium meeting on Sept. 15, held at the NIST campus in Gaithersburg, Md.
According to information from Nabsys, structural variants are often difficult to identify using traditional sequencing techniques, as “short reads” generated often do not span the entire variant. Long-range optical mapping approaches enable long reads, but their low resolution hinders the ability to identify variants.
The ability to read longer segments of DNA at a higher resolution with the Nabsys HD-Mapping platform facilitates calling and analysis of variants over a wide range of sizes, Bready explained.
“Genomic variation has clinical implications at all scales, from single-base changes to aneuploidy, and every size in between,” Bready said in a statement. “As a scientific community, we’re currently quite good at systematically analyzing the lower third, or smaller scale, variations. However, the analysis of the larger two-thirds is as much art as science. The Nabsys HD-mapping platform now allows for the systematic analysis of variants across the rest of the spectrum.”
Said Nabsys Chief Technology Officer John Oliver, “Our electronic mapping platform allows us to combine several desirable technical attributes that are not achievable with other technologies. Specifically, our maps are generated by analyzing very long DNA molecules, on the order of 100,000 base pairs. The DNA travels through semiconductor-based detectors at high velocity, over 1 million base pairs per second, while obtaining resolution superior to optical methods. With this approach, researchers can now look across whole genomes and analyze structural variation with the same sensitivity and specificity found in SNP analysis. This opens up the rest of the spectrum of genomic variation to systematic analysis.”
Bready could not comment on the commercial timeline for the platform.

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