Modern probabilistic and statistical approaches to search for nucleotide sequence options associated with integrated diseases


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Abstract

Complex diseases are a major important problem for modern medicine. These diseases arise under the influence of specific environmental and clinical-demographic factors, so-called risk factors, in combination with factors of genetic heredity. The contribution of genetic factors to the development of complex diseases is on average about 50%. The cause of complex diseases can be a lot of variants of the nucleotide sequence. In addition to common variants of single nucleotide polymorphisms (SNPs), rare variants also play a role in the development of complex diseases. This review presents modern probabilistic and statistical approaches to the search for gene variants and their combinations associated with complex diseases with an emphasis on methods for finding rare and unique variants. A comparative analysis of these approaches is performed, and a number of problems requiring resolution are formulated.

About the authors

A. I. Rytova

National Research Center for Preventive Medicine of the Ministry of Healthcare of the Russian Federation; Department of Probability Theory

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 101990; Moscow, 119991

E. Yu. Khlebus

National Research Center for Preventive Medicine of the Ministry of Healthcare of the Russian Federation; Moscow Institute of Physics and Technology (State University)

Author for correspondence.
Email: elkhlebus@gmail.com
Russian Federation, Moscow, 101990; Dolgoprudny, Moscow oblast, 141701

A. E. Shevtsov

Department of Probability Theory

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 119991

V. A. Kutsenko

Department of Probability Theory

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 119991

N. V. Shcherbakova

National Research Center for Preventive Medicine of the Ministry of Healthcare of the Russian Federation

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 101990

A. A. Zharikova

National Research Center for Preventive Medicine of the Ministry of Healthcare of the Russian Federation

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 101990

A. I. Ershova

National Research Center for Preventive Medicine of the Ministry of Healthcare of the Russian Federation

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 101990

A. V. Kiseleva

National Research Center for Preventive Medicine of the Ministry of Healthcare of the Russian Federation

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 101990

S. A. Boytsov

National Research Center for Preventive Medicine of the Ministry of Healthcare of the Russian Federation

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 101990

E. B. Yarovaya

National Research Center for Preventive Medicine of the Ministry of Healthcare of the Russian Federation; Department of Probability Theory

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 101990; Moscow, 119991

A. N. Meshkov

National Research Center for Preventive Medicine of the Ministry of Healthcare of the Russian Federation; Department of Molecular and Cell Genetics

Email: elkhlebus@gmail.com
Russian Federation, Moscow, 101990; Moscow, 117997


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