Data Base population frequencies of population genetic variants

National Genetic Information Base

Main article: National Genetic Information Base

2024: Base Creation

The Federal Biomedical Agency (FMBA) of Russia has completed the creation of the first domestic database of population frequencies of genetic variants of the population of the Russian Federation. This was announced on October 14, 2024 by the head of the FMBA Veronika Skvortsova.

According to the FMBA of Russia, within the framework of the project, a genome-wide study was carried out with 30-fold coverage of more than 200 thousand Russians. As a result, a database was formed containing information on genetic variants of 120 thousand conditionally healthy people. This makes it one of the world's largest bases of its kind.

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Freepik

The project was implemented from 2020 to 2024 in pursuance of the decisions of Russian President Vladimir Putin. To ensure the representativeness of the sample, the complete genomes of residents of various regions of the country were studied.

In addition, within the framework of the project, a reference genome of a Russian was created. For this, third-generation sequencing methods were used, which made it possible to perform high-precision de novo assembly of full-chromium sequences. According to FMBA experts, the result obtained has no analogues in the world in completeness and can be used as a reference sample.

The created domestic database allows you to conduct a high-precision assessment of the risk of developing genetically determined diseases, create specific diagnostic and prediction methods, determine the molecular genetic mechanisms of the pathogenesis of various human diseases, and develop personalized therapy technologies, "said Veronika Skvortsova.

From October 14, 2024, the database is available to specialists of specialized organizations at https://nir.cspfmba.ru/info. Access is carried out using the account of an authorized user of a national information resource.^[1]

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