AIMC Topic: Biological Ontologies

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The use of foundational ontologies in biomedical research.

Journal of biomedical semantics
BACKGROUND: The FAIR principles recommend the use of controlled vocabularies, such as ontologies, to define data and metadata concepts. Ontologies are currently modelled following different approaches, sometimes describing conflicting definitions of ...

Strategy maintenance in smart healthcare systems.

BMC medical informatics and decision making
BACKGROUNDS: The size of medical strategies is expected to grow in conjunction with the expansion of modern diseases' complexity. When a strategy includes more than ten statements, its manual management becomes very challenging, and in some cases, im...

Patient safety classifications, taxonomies and ontologies, part 2: A systematic review on content coverage.

Journal of biomedical informatics
BACKGROUND: Content coverage of patient safety ontology and classification systems should be evaluated to provide a guide for users to select appropriate ones for specific applications. In this review, we identified and compare content coverage of pa...

The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.

Med (New York, N.Y.)
BACKGROUND: Navigating the clinical literature to determine the optimal clinical management for rare diseases presents significant challenges. We introduce the Medical Action Ontology (MAxO), an ontology specifically designed to organize medical proc...

HeNeCOn: An ontology for integrative research in Head and Neck cancer.

International journal of medical informatics
BACKGROUND: Head and Neck Cancer (HNC) has a high incidence and prevalence in the worldwide population. The broad terminology associated with these diseases and their multimodality treatments generates large amounts of heterogeneous clinical data, wh...

Context-based refinement of mappings in evolving life science ontologies.

Journal of biomedical semantics
BACKGROUND: Biomedical computational systems benefit from ontologies and their associated mappings. Indeed, aligned ontologies in life sciences play a central role in several semantic-enabled tasks, especially in data exchange. It is crucial to maint...

Analysis and implementation of the DynDiff tool when comparing versions of ontology.

Journal of biomedical semantics
BACKGROUND: Ontologies play a key role in the management of medical knowledge because they have the properties to support a wide range of knowledge-intensive tasks. The dynamic nature of knowledge requires frequent changes to the ontologies to keep t...

Infrastructure tools to support an effective Radiation Oncology Learning Health System.

Journal of applied clinical medical physics
PURPOSE: Radiation Oncology Learning Health System (RO-LHS) is a promising approach to improve the quality of care by integrating clinical, dosimetry, treatment delivery, research data in real-time. This paper describes a novel set of tools to suppor...

Multi-domain knowledge graph embeddings for gene-disease association prediction.

Journal of biomedical semantics
BACKGROUND: Predicting gene-disease associations typically requires exploring diverse sources of information as well as sophisticated computational approaches. Knowledge graph embeddings can help tackle these challenges by creating representations of...

Improving the classification of cardinality phenotypes using collections.

Journal of biomedical semantics
MOTIVATION: Phenotypes are observable characteristics of an organism and they can be highly variable. Information about phenotypes is collected in a clinical context to characterize disease, and is also collected in model organisms and stored in mode...