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Biological Ontologies

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Integration of Anatomy Ontologies and Evo-Devo Using Structured Markov Models Suggests a New Framework for Modeling Discrete Phenotypic Traits.

Systematic biology
Modeling discrete phenotypic traits for either ancestral character state reconstruction or morphology-based phylogenetic inference suffers from ambiguities of character coding, homology assessment, dependencies, and selection of adequate models. Thes...

Characterizing the Scope of Exposome Research Through Topic Modeling and Ontology Analysis.

Studies in health technology and informatics
Exposomics is a field of research which is receiving growing attention. In this work, we characterize the exposome research landscape and update our previous study of formal knowledge representation approaches to this field. We applied a deductive an...

Semantic Provenance Graph for Reproducibility of Biomedical Research Studies: Generating and Analyzing Graph Structures from Published Literature.

Studies in health technology and informatics
OBJECTIVE: To characterize the scientific reproducibility of biomedical research studies by query and analysis of semantic provenance graphs generated from provenance metadata terms extracted from PubMed articles.

IDOMEN: An Extension of Infectious Disease Ontology for MENingitis.

Studies in health technology and informatics
In sub-Saharan African countries the prevention and control of epidemic diseases requires the improvement of the surveillance system for these diseases. Biomedical ontologies are a growing field that can improve health information systems. Indeed bio...

Where to search top-K biomedical ontologies?

Briefings in bioinformatics
MOTIVATION: Searching for precise terms and terminological definitions in the biomedical data space is problematic, as researchers find overlapping, closely related and even equivalent concepts in a single or multiple ontologies. Search engines that ...

Ontologic Model of Diagnostics and Treatment of Gastrointestinal Bleedings of Unknown Origin.

Studies in health technology and informatics
The article presents the semantic model of diagnostics and treatment of patients with gastrointestinal bleedings when the reasons of bleeding cannot be establihed by means of a laboratory tests, endoscopy and colonoscopy.

Doc2Hpo: a web application for efficient and accurate HPO concept curation.

Nucleic acids research
We present Doc2Hpo, an interactive web application that enables interactive and efficient phenotype concept curation from clinical text with automated concept normalization using the Human Phenotype Ontology (HPO). Users can edit the HPO concepts aut...

A sustainable HL7 FHIR based ontology for PHR data.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
One of the most widely acknowledged standards in health informatics is HL7 (Health Level 7 International). HL7 FHIR® (Fast Healthcare Interoperability Resources) is a new HL7 standard for exchanging electronic health data. It builds upon previous HL7...

OPA2Vec: combining formal and informal content of biomedical ontologies to improve similarity-based prediction.

Bioinformatics (Oxford, England)
MOTIVATION: Ontologies are widely used in biology for data annotation, integration and analysis. In addition to formally structured axioms, ontologies contain meta-data in the form of annotation axioms which provide valuable pieces of information tha...

deepBioWSD: effective deep neural word sense disambiguation of biomedical text data.

Journal of the American Medical Informatics Association : JAMIA
OBJECTIVE: In biomedicine, there is a wealth of information hidden in unstructured narratives such as research articles and clinical reports. To exploit these data properly, a word sense disambiguation (WSD) algorithm prevents downstream difficulties...