Section: 
General questions of otolaryngology
General questions of otolaryngologyMedical bioinformatics: basic operations with nucleotide sequences in r software environment
A. A. Korneenkov (1), Yu. K. Yanov (2), V. V. Dvoryanchikov (3), E. E. Vyazemskaya (4), A. Yu. Medvedeva (5)
(1), (3), (4), (5) Saint Petersburg Institute of Ear, Throat, Nose and Speech, Saint Petersburg, 190013, Russian Federation, (2) Kirov Military Medical Academy, Saint Petersburg, 194044, Russian Federation, (2) Mechnikov North-Western State Medical University, Saint Petersburg, 195067, Russian Federation
UDK: УДК 575.112:004.438:577.113.4
DOI: https://doi.org/10.18692/1810-4800-2025-4-13-27
ABSTRACT
Abstract. The advancement of personalized medicine and the integration of cutting-edge technologies necessitate Introduction. The advancement of the concept of personalized medicine and the integration of cutting-edge technologies necessitate enhancing physicians’ expertise in the field of medical bioinformatics, which is of particular importance in the diagnosis and treatment of genetic syndromes in otorhinolaryngology. Objective. To discuss solutions for typical bioinformatics tasks associated with the primary software processing of biological sequences (nucleotide and amino acid) to derive and apply medical knowledge about genotype-phenotype associations in the concept of personalized medicine. Materials and methods. The study draws on data from literary sources, descriptions of established genetic sequence analysis technologies, educational materials from globally recognized institutions, and the authors’ firsthand experience in implementing reproducible research in scientific practice and medical education. Results. The study proposes foundational computational tasks replicating the functions for handling nucleotide sequences and amino acid sequences. Discussions. The knowledge and skills acquired through these tasks during bioinformatics training ensure comprehension of core operations and their practical application in developing informative diagnostic technologies. For task implementation, it is proposed to use the R programming language and software packages from the Bioconductor project, which provides resources medical bioinformatics research.
Publication date:
13.08.2025
Keywords:
bioinformatics, bioinformatics training, typical bioinformatics tasks, reproducible research, R programming language, nucleotide sequences, genetic syndromes in otolaryngology, Bioconductor project, personalized medicine, personalized diagnostic technologies, medical bioinformatics For citation:
Korneenkov A. A., Yanov Yu. K., Dvoryanchikov V. V., Vyazemskaya E. E., Medvedeva A. Yu. Medical bioinformatics: basic operations with nucleotide sequences in r software environment. Russian Otorhinolaryngology. 2025;24(4):13-27. (In Russ.) https://doi.org/10.18692/1810-4800-2025-4-13-27