Review of programs for assessing the pathogenicity of genetic variants
https://doi.org/10.24884/1607-4181-2025-32-1-11-20
Abstract
Currently, molecular genetic methods play an essential role in the diagnostic process for diverse pathologies. The introduction of mass parallel sequencing has significantly increased the amount of data on DNA variants in patients with various diseases, but the clinical significance of many of these findings remains unknown. Widely used methods of variant effect evaluation include the automatic determination of the pathogenicity of variants using specialized predictors. Domestic and international guidelines for the interpretation of data obtained through mass parallel sequencing recommend the use of predictive programs to determine the clinical significance of genetic variants. However, there is a lack of detailed information about the principles and characteristics of these programs in the scientific literature. In this review, we present the basic principles that are used to evaluate the pathogenicity of variations using the example of some of the most widely used predictive programs.
About the Authors
D. S. Bug
Pavlov University
Russian Federation
Russian Federation
Bug Dmitrii S., Junior Research Fellow, Bioinformatics Research Center of the Research Institute of Biomedicine
6-8, L’va Tolstogo str., Saint Petersburg, 197022
A. N. Narkevich
South-Ural State Medical University
Russian Federation
Russian Federation
Narkevich Artem N., Dr. of Sci. (Med.), Associate Professor, Professor of the Department of Public Health
64, Vorovskogo str., Chelyabinsk, 454092
N. V. Petukhova
Pavlov University
Russian Federation
Russian Federation
Petukhova Natalia V., Cand. of Sci. (Med.), Head of the Bioinformatics Research Center of the Research Institute of Biomedicine
6-8, L’va Tolstogo str., Saint Petersburg, 197022
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Review
For citations:
Bug D.S., Narkevich A.N., Petukhova N.V. Review of programs for assessing the pathogenicity of genetic variants. The Scientific Notes of the Pavlov University. 2025;32(1):11-20. (In Russ.) https://doi.org/10.24884/1607-4181-2025-32-1-11-20
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