Year: 2025
Type: article
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.
Authors: D. S. Bug, A. N. Narkevich, N. V. Petukhova
Institution: Chelyabinsk State Medical Academy
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4411148801