Our research at the Institute of Bioinformatics Research and Education aims at solving fundamental and applied problems in bioinformatics and systems biology, focusing on human genome variation.

Research Group Members

Alexander Predeus, Ph.D.
Scientific Advisor
Yury Barbitoff, Ph.D.
Research Director
Anton Changalidi
Associate Bioinformatician
Aleksandra Panteleeva

Our Projects

Our team is working in three main directions:
  • 1
    Investigation of the genotype-to-phenotype relationships in human and beyond
    The key goal of our research is the identification and in-depth analysis of pleiotropic effects, whereby a single gene affects a variety of traits. We tackle this problem by integrating genome-wide association data and other resources on the phenome scale.
  • 2
    Analysis of the evolutionary aspects of human genome variation.
    We are interested in how patterns of within-gene genetic variation reflect functional significance of genomic regions. We utilize large-scale data sources such as the Genome Aggregation Database (gnomAD) to study mechanisms of mutation and selective pressure and develop new tools for annotation of genetic variants.
  • 3
    Application of NGS bioinformatics for medical and population genetics.
    We collaborate with several research groups and private genetic laboratories to develop tools for interactive analysis of exome and genome sequencing data.
Complete list of our previous works (click to expand)

As a research group at Bioinformatics Institute (2017-2022):

  1. Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients Genes (Basel) 2022. doi: 10.3390/genes13030534
  2. RNA sequencing of whole blood defines the signature of high intensity exercise at altitude in elite speed skaters Genes (Basel) 2022. doi: 10.3390/genes13040574
  3. Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery BMC Genomics 2022. doi: 10.1186/s12864-022-08365-3
  4. Development of SNP Set for the Marker-Assisted Selection of Guar (Cyamopsis tetragonoloba (L.) Taub.) Based on a Custom Reference Genome Assembly Plants 2021. doi: 10.3390/plants10102063
  5. Chromosome-level genome assembly and structural variant analysis of two laboratory yeast strains from the Peterhof Genetic Collection lineage G3 2021. doi: 10.1093/g3journal/jkab029
  6. Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing Biomed Rep 2021. doi: 10.3892/br.2020.1391
  7. Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome Front Genet 2020. doi: 10.3389/fgene.2020.551220
  8. Harnessing population-specific protein truncating variants to improve the annotation of loss-of-function alleles. bioRxiv 2020. doi: 10.1101/2020.08.17.254904
  9. A data-driven review of the genetic factors of pregnancy complications Int J Mol Sci 2020. doi: 10.3390/ijms21093384
  10. Systematic dissection of biases in whole-genome and whole-exome sequencing reveals major determinants of coding sequence coverage. Sci Rep 2020. doi: 10.1038/s41598-020-59026-y
  11. Phenome-wide functional dissection of pleiotropic effects highlights key molecular pathways for human complex traits Sci Rep 2020. doi: 10.1038/s41598-020-58040-4
  12. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation J Trace Elem Med Biol, 2019. doi: 10.1016/j.jtemb.2019.126420
  13. Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes Mol Med Rep, 2019. doi: 10.3892/mmr.2019.10751
  14. Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia Mol Genet Genomic Med, 2019. doi: 10.1002/mgg3.964
  15. Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes World J Diabetes, 2019. doi: 10.4239/wjd.v10.i7.376
  16. Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size. Genes (Basel), 2018. doi: 10.3390/genes9080415
  17. Catching hidden variation: systematic correction of reference minor allele annotation in clinical varian calling. Genet Med, 2017. doi: 10.1038/gim.2017.168
  18. Effect of gene-lifestyle interaction on gestational diabetes risk. Oncotarget, 2017. doi: 10.18632/oncotarget.22999

Our Events

We are organizing the IBRE Bioinformatics Club, an online meeting of the bioinformatics community devoted to discussing crucial topics in bioinformatics, computational biology, data science, and beyond.
Don't miss out. Learn the details and register today!


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