Аннотация
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).