Developers of Novel Software Systems have created the “Genokarta” platform, which is translated literally as “Gene map”, is a free encyclopedia of human genes, diseases and phenotypes. The authors of the project plan to develop on its basis a community of experts who will exchange information with each other and regular users.
Now doctors and scientists in Russia have to use foreign databases, while a lack of awareness of genetic diseases sometimes interferes with timely diagnosis. The Genokarta (http://genokarta.ru) is created by the developers of Novel Software Systems with the participation of medical practitioners and researchers, focuses on the most important information.
“Every day there are news about modern genetic research and development, but so far in Russia there was no single resource that would show a complete picture in this area,” says Dmitry Shtokalo, CEO of Novel Software Systems. “With the help of the Genokarta, we want to show what a person’s genetic testing can actually provide and what should be paid attention to”.
For the launch of the project, the authors of "Genokarta" prepared more than 200 articles about genes and genetic diseases. The materials of the encyclopedia describe the mechanisms of inheritance of both rare diseases, for example, Fabry and Gilbert's syndrome, and the more widespread ones - melanoma and vitamin D deficiency, as well as the peculiarities of the phenotype. By the end of the year, the number of articles will double.
"Genokarta" tells about the location of the genes and the purpose of the proteins that they encode, as well as related mutations and variations in the gene. The platform displays automatically found links for variations and mutations in foreign databases.
In addition to encyclopedic articles, the project covers current news from the world of human genetics. In the future, the “Genokarta” will become a platform for expert communication and an aggregator of information from databases. Also within the framework of the project, services for processing and interpreting the results of genetic analyzes will appear.