NRGene, Ness Ziona, Israel, a provider of genomic assembly and analysis systems, has demonstrated its ability to discover, analyze, and track abnormalities within the human genome, across multiple subjects.
In proof-of-concept testing, NRGene’s GenoMagic system provided a complete analysis of a family’s genomic profile based on low-coverage (8x) whole-genome sequencing information. The system detected the heritable haplotypes and the rare causal mutation underlying the family’s colon cancer. The finding demonstrates GenoMagic’s ability to perform accurate whole-genome analysis from low-coverage data and quickly detect familial disease genes.
Henle P. Ji, MD, Stanford University.
As part of a collaborative project with Henle P. Ji, MD, associate professor of medicine (oncology) at Stanford University, NRGene’s analytic technology was found to accurately identify pathogenic mutations from a family with a hereditary cancer syndrome. With GenoMagic, NRGene delivers a complete solution for population genomics and large-scale, next-generation human genomics research. The system analyzes complex genomic data and translates it into accessible, straightforward information. The Cloud-based platform is fully scalable, as data from multiple sources can be quickly and easily integrated. A dedicated graphical user interface delivers complete visualization of data queries.
GenoMagic allows the creation and constant updating of a population-scale haplotypes database. The system delivers genome-wide association studies and biomarker discovery—as with the colon cancer mutation demonstration.
Gil Ronen, NRGene.
“NRGene technology has been proven to find the genomic diversity among crops like wheat, whose genome is five times the size of the human genome,” says NRGene CEO Gil Ronen. “Finding the colon cancer causal mutation so efficiently demonstrates how our technology can support high-throughput discovery of other abnormalities in the human genome, accelerating genetic-based disease research and delivering information toward finding cures.”
For more information, visit NRGene.
