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Biological Ontologies

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Taxonomy-Based Approaches to Quality Assurance of Ontologies.

Journal of healthcare engineering
Ontologies are important components of health information management systems. As such, the quality of their content is of paramount importance. It has been proven to be practical to develop quality assurance (QA) methodologies based on automated iden...

A new synonym-substitution method to enrich the human phenotype ontology.

BMC bioinformatics
BACKGROUND: Named entity recognition is critical for biomedical text mining, where it is not unusual to find entities labeled by a wide range of different terms. Nowadays, ontologies are one of the crucial enabling technologies in bioinformatics, pro...

Querying clinical data in HL7 RIM based relational model with morph-RDB.

Journal of biomedical semantics
BACKGROUND: Semantic interoperability is essential when carrying out post-genomic clinical trials where several institutions collaborate, since researchers and developers need to have an integrated view and access to heterogeneous data sources. One p...

Semantic annotation in biomedicine: the current landscape.

Journal of biomedical semantics
The abundance and unstructured nature of biomedical texts, be it clinical or research content, impose significant challenges for the effective and efficient use of information and knowledge stored in such texts. Annotation of biomedical documents wit...

Investigations on factors influencing HPO-based semantic similarity calculation.

Journal of biomedical semantics
BACKGROUND: Although disease diagnosis has greatly benefited from next generation sequencing technologies, it is still difficult to make the right diagnosis purely based on sequencing technologies for many diseases with complex phenotypes and high ge...

Predicting activities of daily living for cancer patients using an ontology-guided machine learning methodology.

Journal of biomedical semantics
BACKGROUND: Bio-ontologies are becoming increasingly important in knowledge representation and in the machine learning (ML) fields. This paper presents a ML approach that incorporates bio-ontologies and its application to the SEER-MHOS dataset to dis...

Design of an extensive information representation scheme for clinical narratives.

Journal of biomedical semantics
BACKGROUND: Knowledge representation frameworks are essential to the understanding of complex biomedical processes, and to the analysis of biomedical texts that describe them. Combined with natural language processing (NLP), they have the potential t...

Ontology-based specification, identification and analysis of perioperative risks.

Journal of biomedical semantics
BACKGROUND: Medical personnel in hospitals often works under great physical and mental strain. In medical decision-making, errors can never be completely ruled out. Several studies have shown that between 50 and 60% of adverse events could have been ...

Semantic Modeling for Exposomics with Exploratory Evaluation in Clinical Context.

Journal of healthcare engineering
Exposome is a critical dimension in the precision medicine paradigm. Effective representation of exposomics knowledge is instrumental to melding nongenetic factors into data analytics for clinical research. There is still limited work in (1) modeling...

Discovering associations between adverse drug events using pattern structures and ontologies.

Journal of biomedical semantics
BACKGROUND: Patient data, such as electronic health records or adverse event reporting systems, constitute an essential resource for studying Adverse Drug Events (ADEs). We explore an original approach to identify frequently associated ADEs in subgro...