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Biological Ontologies

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Semantically enabling clinical decision support recommendations.

Journal of biomedical semantics
BACKGROUND: Clinical decision support systems have been widely deployed to guide healthcare decisions on patient diagnosis, treatment choices, and patient management through evidence-based recommendations. These recommendations are typically derived ...

SBOannotator: a Python tool for the automated assignment of systems biology ontology terms.

Bioinformatics (Oxford, England)
MOTIVATION: The number and size of computational models in biology have drastically increased over the past years and continue to grow. Modeled networks are becoming more complex, and reconstructing them from the beginning in an exchangeable and repr...

Self-prediction of relations in GO facilitates its quality auditing.

Journal of biomedical informatics
As applications of the gene ontology (GO) increase rapidly in the biomedical field, quality auditing of it is becoming more and more important. Existing auditing methods are mostly based on rules, observed patterns or hypotheses. In this study, we pr...

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...

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...

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...

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...

The Human Phenotype Ontology in 2024: phenotypes around the world.

Nucleic acids research
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similar...