Conceptual Model of Clinical and Genetic Relationships for Diagnostics Based on Exome Sequencing

Sultangaziyeva A. Sambetbayeva M. Yerimbetova A. Daiyrbayeva E. Telman D. Turganbayev A.
2025 Institute of Electrical and Electronics Engineers Inc.

International Conference on Computer Science and Engineering, UBMK
2025 Issue 2025 92 - 95 pp.

The article presents a conceptual model for presenting clinical and genetic relationships derived from conclusions based on the results of whole exome sequencing (WES). The model integrates genetic mutations, phenotypic traits, and clinical diagnoses into an ontologically structured system using international medical classifiers such as HGVS [13], OMIM [11], HPO [12], ClinVar [10], and ICD-10. It supports information extraction from text, semantic annotation, and clinical decision-making. The proposed approach has higher semantic detail, improved integration with biomedical resources, and compatibility with NLP and CDSS tasks. The model was implemented in the OWL 2 ontology language using the Protégé 5.6.5 editor and evaluated with SPARQL queries and ontology metrics tools (OOPS!, OntoMetric).

biomedical text analysis , clinical and genetic model , clinical decision support , exome sequencing , ontology

Text of the article Перейти на текст статьи

Astana International University, School of Information Technology and Engineering, Astana, Kazakhstan
Institute of Information and Computational Technologies of the Committee of Science, Ministry of Science and Higher Education of the Republic of Kazakhstan, L.N. Gumilyov Eurasian National University, Astana, Kazakhstan
Institute of Information and Computational Technologies of the Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan, Almaty, Kazakhstan
Institute of Information and Computational Technologies of the Committee of Science, Ministry of Science and Higher Education of the Republic of Kazakhstan, Satbayev University, Almaty, Kazakhstan

Astana International University
Institute of Information and Computational Technologies of the Committee of Science
Institute of Information and Computational Technologies of the Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan
Institute of Information and Computational Technologies of the Committee of Science

10 лет помогаем публиковать статьи Международный издатель

Книга Публикация научной статьи Волощук 2026 Book Publication of a scientific article 2026