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

Resumo

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.