The project is aimed at developing and validating the software system for pharmacogenomics. The integrated research and development efforts will be focused on DNA sequence processing methods dedicated to highly variable regions of the human genome, associated with drug safety and efficacy (pharmacogenes). Combination of high-throughput DNA sequencing, long-range genome reads, and advanced data-analysis pipelines will be used for precise and rapid identification of the genotypes of pharmacogenes. The advanced machine learning methods will be used to increase sensitivity and specificity of genotyping, and further to improve prediction of the individual drug-response profile. The scalable bioinformatic modules will be integrated into a comprehensive system capable of conducting the analyses of the human genome regions, containing drug-related genes, characterized by high structural and sequence variations. The system will generate a set of diagnostics tools (tests) for the most commonly used drugs. The R&D phase of the project will be followed by the implementation of the system into the clinical conditions. Validated PGx Plus system may become one of the first pharmacogenetic solutions working on the whole-genome scale. The direct results of the project will respond to a great market demand for a personalized medical products (POIR.01.02.00-00-0089/18).
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