ssmuБюллетень сибирской медициныBulletin of Siberian Medicine1682-03631819-3684Siberian State Medical University, the Ministry of Healthcare of the Russian Federation10.20538/1682-0363-2026-1-176-184ssmu-6419Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEW AND LECTURESГенная онтология для геномики и биологииGene ontology for genomics and biologyhttps://orcid.org/0000-0001-6077-0347ЧасовскихН. Ю.ChasovskikhN. Yu.

Часовских Наталия Юрьевна – д-р мед. наук, доцент, зав. кафедрой медицинской и биологической кибернетики

Россия, 634050, г. Томск, Московский тракт, 2

2 Moscovsky trakt, 634050 Tomsk, Russian Federation

nch03@mail.ruСибирский государственный медицинский университет (СибГМУ)РоссияSiberian State Medical UniversityRussian Federation202613042026251176184Copyright © Часовских Н.Ю., 20262026Часовских Н.Ю.Chasovskikh N.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://bulletin.ssmu.ru/jour/article/view/6419

Цель исследования – рассмотреть роль генной онтологии (GO) и Консорциума GO в формировании базиса знаний для геномики, протеомики и биологии. Генная онтология позволяет систематизировать и постоянно обновляет данные о молекулярных функциях и биологических процессах, в которых участвуют гены и их продукты.Рассмотрена структура GO, особенности иерархии терминов GO и отношения между ними, элементы каждого из терминов. Приведены особенности сервисов, обеспечивающих возможности работы исследователей с базой знаний с помощью различных способов доступа к данным GO. Помимо характеристик терминов в GO большое внимание уделяется аннотациям – утверждениям, связывающим продукт гена с конкретным термином онтологии. Процесс аннотации фиксирует действие и локализацию генного продукта с помощью терминов, предоставляя ссылку и вид доказательств.Рассмотрены направления применения генной онтологии, связанные с анализом данных геномики и протеомики. Основные подходы, используемые исследователями, – это функциональная аннотация генов, анализ обогащения путей. Анализ больших объемов данных (например, при оценке экспрессии генов) позволяет получить знания о вовлеченности тех или иных генов и их продуктов в различные процессы в организме, извлечь биологический смысл и оценить особенности молекулярных механизмов при различных заболеваниях. Показана возрастающая роль GO в формировании новых знаний в соответствующей области.

The aim of the lecture was to consider the role of gene ontology (GO) and the GO Consortium in shaping the knowledge base for genomics, proteomics, and biology. GO organizes and continually updates data on the molecular functions and biological processes in which genes and their products are involved.The structure of GO, the features of GO term hierarchy and the connections between them, as well as the elements of each term are considered. The features of services for working with basic knowledge and various ways to access civil defense data are given. In addition to term characteristics, GO pays great attention to annotations – statements that link a gene product to a certain ontology term. The annotation process captures the action and location of a gene product using terms, providing a reference and a type of evidence.The areas of application of GO related to the analysis of genomics and proteomics data are considered. The main approaches used by researchers are functional annotation of genes and pathway enrichment analysis. Analysis of large volumes of data (for example, when assessing gene expression) allows to gain knowledge about the involvement of genes and their products in various processes, extract biological meaning, and evaluate the features of molecular mechanisms in various diseases. The increasing role of GO in the formation of new knowledge in the relevant field is shown.

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The authors declare that there are no conflicts of interest present.