A new module of the Genomenal platform for assessing polygenic risks of common diseases will be developed in cooperation with the Laboratory of Theoretical and Applied Functional Genomics of the Faculty of Natural Science NSU with grant support from the Ministry of Science and Innovation Policy of the Novosibirsk Region. An agreement was signed and a subsidy was received for R&D under the project “Development of a module for assessing polygenic risks of common diseases on the Genomenal NGSWizard platform” in september 2021 within the framework of the “Competition for the provision of subsidies to innovation entities for the preparation, transfer and commercialization of technologies , including the release of a pilot batch of products, its certification, production modernization and other activities."
The new module for the Genomenal NGSWizard platform is based on two innovative solutions:
- software toolkit NGSWizard for automating the processing of genomic data;
- software for counting polygenic risks and quality control, developed at NSU.
The software module will analyze genomic data and calculate the level of genetic risk of occurrence during a person's life of such diseases as:
- breast cancer (BC),
- prostate cancer (RP),
- rectal cancer (colorectal cancer, CRC),
- type 2 diabetes ischemic heart disease (IHD)
- chronic obstructive pulmonary disease (COPD).
To assess polygenic risks, genome-wide genotyping data obtained using microarray technology, as well as next generation sequencing (NGS), can be used. The advantage of the program is the ability to process low coverage NGS sequencing data. This will make it possible to draw conclusions about polygenic risks with practically no loss of quality, but with a significant reduction in the cost of the procedure. Currently, genome sequencing costs more than $ 1000, and low-pass WGS technology allows data to be obtained 5-7 times cheaper.
The risk assessment module will be available in the NGSWizard software product.