Towards an ontology-based phenotypic query model


Clinical research based on data from patient or study data management systems plays an important role in transferring basic findings into the daily practices of physicians. To support study recruitment, diagnostic processes, and risk factor evaluation, search queries for such management systems can be used. Typically, the query syntax as well as the underlying data structure vary greatly between different data management systems. This makes it difficult for domain experts (e.g., clinicians) to build and execute search queries. In this work, the Core Ontology of Phenotypes is used as a general model for phenotypic knowledge. This knowledge is required to create search queries that determine and classify individuals (e.g., patients or study participants) whose morphology, function, behaviour, or biochemical and physiological properties meet specific phenotype classes. A specific model describing a set of particular phenotype classes is called a Phenotype Specification Ontology. Such an ontology can be automatically converted to search queries on data management systems. The methods described have already been used successfully in several projects. Using ontologies to model phenotypic knowledge on patient or study data management systems is a viable approach. It allows clinicians to model from a domain perspective without knowing the actual data structure or query language.

Projects: SMITH - Smart Medical Information Technology for Healthcare

Publication type: Journal article

Journal: Appl. Sci. (Basel)

Publisher: MDPI AG

Human Diseases: No Human Disease specified

Citation: Appl. Sci. (Basel) 12(10):5214

Date Published: 1st May 2022

Registered Mode: imported from a bibtex file

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Created: 24th Feb 2023 at 17:05

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