Laboratory for Statistical Multi-omics and Bio-informatics

Scientific results:

• Improved approaches and high-throughput tools for missing data and multiple phenotypes imputation at the individual level and at the level of summary statistics of genome-wide association studies were developed.
• A user-friendly web portal and ANTE-OMICS analytical platform for storing and analyzing data from genome-wide association studies (GWAS) has been developed, improving the efficiency of large-scale multi-component data.
• A unique sample of motifs optimal for the analysis of genetic data was created for the first time in the world, that is optimal for the analysis of genetic data, namely for the prioritization of non-coding variants based on the difference in binding affinity of transcription factors.
• The collection of human biological materials existing at the Institute of Biochemistry and Genetics, Ufa Federal Research Centre, Russian Academy of Sciences, was systematized; It includes DNA samples of indigenous peoples of the regions of the Russian Federation, as well as patients and their family members with hereditary and complex diseases from various populations (more than 50 ethnic groups), as well as omics data. A distributed electronic database in SQL format was created to store epidemiological, demographic, and clinical data of the biological materials collection of IBG UFRC RAS.
• A software for collecting data online using various questionnaires to collect new samples and expand existing samples for longitudinal studies on complex traits and diseases was developed.
• Informative predictors for the development of a number of multifactorial diseases and complex traits have been identified: type 2 diabetes mellitus, metabolic syndrome, cardiometabolic phenotypes, including ischaemic heart disease and dyslipidaemia, chronic obstructive pulmonary disease, bronchial asthma and breast cancer.
• The genetic patterns involved in the formation of a stable highly adaptive phenotype that allows avoiding age-related pathologies or minimizing their negative impact have been established.
• Genome-wide association analysis of physical activity-related traits revealed significant associations with such indicators as “body mass index”, “duration of regular exercise”, “frequency of exercise”, “number of push-ups”, and “long jump distance”.
• Pathogenic variants of genes resulting in the development of hereditary diseases - osteogenesis imperfect and congenital isolated cataract - were identified, and algorithms and targeting NGS panels optimal for the population of the Volga-Ural region were developed for the effective DNA diagnostics.
• New approaches to personalized medicine have been developed to predict individual risk using polygenic risk scores (PRS) to predict individual risk of developing prostate cancer, renal cancer, ovarian cancer, asthma, chronic obstructive pulmonary disease, type 2 diabetes, osteoporosis.

In general, all the results obtained during the implementation of the project make a significant contribution to the development of personalized medicine – its main modern direction of development.

Organizational and infrastructural changes:

The Laboratory of Statistical Multiomics and Bioinformatics was established at the Institute of Biochemistry and Genetics, UFRC RAS

A high-performance computing cluster was created at the Institute of Biochemistry and Genetics, UFRC RAS

Education and personnel occupational retraining:

• Megagrant’s scientific team members prepared and defended 3 doctoral and 7 candidate dissertations on the declared direction of the scientific project.
• Five members of the project team have been accepted into postgraduate programmes in their declared area of research.
• Nine new educational programs (EP) were developed and implemented:
• Master's degree program «Algorithmic Bioinformatics» (networked with IBG UFRC RAS), training direction 09.04.01 Informatics and Computer Science - implemented in 2021-2022 academic year at the Faculty of Informatics and Robotics of the Ufa State Aviation University.
• Master's program «Genomic Medicine», training direction 06.04.01 Biology, implemented in 2021-2022 academic year at the Faculty of Biology of the Bashkir State University.
• Bachelor's degree program «Genetics», training direction 06.03.01 Biology, implemented in 2021-2022 academic year at the Faculty of Biology of the Bashkir State University.
• Master's degree program «Genomics and Bioinformatics» (networked with IBG UFRC RAS) in the field of training 06.04.01 Biology, implemented in 2022-2023 academic year at the Ufa University of Science and Technology.
• Master's program «Biotechnology and Bioinformatics» in the direction of training 19.04.01 Biotechnology, implemented in 2022-2023 academic year at the Ufa University of Science and Technology.
• Bachelor's degree program «Molecular Biotechnology» in the field of training 19.03.01 Biotechnology, implemented in 2022-2023 academic year at the Ufa University of Science and Technology.
• WP «Bioinformatic analysis of genomic data» of Master's program «Genomics and bioinformatics» (networked with IBG UFRC RAS) in the direction of training 06.04.01 Biology, implemented in 2023-2024 academic year at the Ufa University of Science and Technology.
• WP «Population genetics» of the Bachelor's program on the profile of training «Physiology and general biology», «Biochemistry», «Genetics» in the direction of training 06.04.01 Biology, implemented in 2023-2024 academic year at the Ufa University of Science and Technology.
• WP «Ethnogenomics» of the Bachelor's program «Genetics» in the direction of training 06.04.01 Biology, implemented in 2023-2024 academic year at the Ufa University of Science and Technology.

Cooperation:

• Ufa University of Science and Technology,
• Vavilov Institute of General Geneticsof the Russian Academy of Sciences,
• Tomsk National Research Medical Center of the Russian Academy of Sciences
• North-Eastern Federal University
• Genotek Ltd