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Biological Ontologies

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Towards a Semantic Data Harmonization Federated Infrastructure.

Studies in health technology and informatics
Data integration is an increasing need in medical informatics projects like the EU Precise4Q project, in which multidisciplinary semantically and syntactically heterogeneous data across several institutions needs to be integrated. Besides, data shari...

Challenges for FAIR-compliant description and comparison of crop phenotype data with standardized controlled vocabularies.

Database : the journal of biological databases and curation
Crop phenotypic data underpin many pre-breeding efforts to characterize variation within germplasm collections. Although there has been an increase in the global capacity for accumulating and comparing such data, a lack of consistency in the systemat...

Predicting candidate genes from phenotypes, functions and anatomical site of expression.

Bioinformatics (Oxford, England)
MOTIVATION: Over the past years, many computational methods have been developed to incorporate information about phenotypes for disease-gene prioritization task. These methods generally compute the similarity between a patient's phenotypes and a data...

Similarity Calculation, Enrichment Analysis, and Ontology Visualization of Biomedical Ontologies using UFO.

Current protocols
The rapid growth of biomedical ontologies observed in recent years has been reported to be useful in various applications. In this article, we propose two main-function protocols-term-related and entity-related-with the three most common ontology ana...

Converting disease maps into heavyweight ontologies: general methodology and application to Alzheimer's disease.

Database : the journal of biological databases and curation
Omics technologies offer great promises for improving our understanding of diseases. The integration and interpretation of such data pose major challenges, calling for adequate knowledge models. Disease maps provide curated knowledge about disorders'...

The Human Phenotype Ontology in 2021.

Nucleic acids research
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for ...

Using Neural Networks for Relation Extraction from Biomedical Literature.

Methods in molecular biology (Clifton, N.J.)
Using different sources of information to support automated extracting of relations between biomedical concepts contributes to the development of our understanding of biological systems. The primary comprehensive source of these relations is biomedic...

Time event ontology (TEO): to support semantic representation and reasoning of complex temporal relations of clinical events.

Journal of the American Medical Informatics Association : JAMIA
OBJECTIVE: The goal of this study is to develop a robust Time Event Ontology (TEO), which can formally represent and reason both structured and unstructured temporal information.

Development of the Gender, Sex, and Sexual Orientation ontology: Evaluation and workflow.

Journal of the American Medical Informatics Association : JAMIA
OBJECTIVE: The study sought to create an integrated vocabulary system that addresses the lack of standardized health terminology in gender and sexual orientation.

A Semantic Similarity Evaluation for Healthcare Ontologies Matching to HL7 FHIR Resources.

Studies in health technology and informatics
Healthcare 4.0 demands healthcare data to be shaped into a common standardized and interoperable format for achieving more efficient data exchange. Most of the techniques addressing this domain are dealing only with specific cases of data transformat...