AIMC Topic: Biological Ontologies
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Integrating ontologies of human diseases, phenotypes, and radiological diagnosis.
Journal of the American Medical Informatics Association : JAMIA
Feb 1, 2019
Mappings between ontologies enable reuse and interoperability of biomedical knowledge. The Radiology Gamuts Ontology (RGO)-an ontology of 16 918 diseases, interventions, and imaging observations-provides a resource for differential diagnosis and auto...
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic acids research
Jan 8, 2019
The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detaile...
Human Disease Ontology 2018 update: classification, content and workflow expansion.
Nucleic acids research
Jan 8, 2019
The Human Disease Ontology (DO) (http://www.disease-ontology.org), database has undergone significant expansion in the past three years. The DO disease classification includes specific formal semantic rules to express meaningful disease models and ha...
The Sickle Cell Disease Ontology: enabling universal sickle cell-based knowledge representation.
Database : the journal of biological databases and curation
Jan 1, 2019
Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications. Although described more than a century ago, challenges in comprehensive d...
Current status and future perspective of computational toxicology in drug safety assessment under ontological intellection.
The Journal of toxicological sciences
Jan 1, 2019
For the safety assessment of pharmaceuticals, initial data management requires accurate toxicological data acquisition, which is based on regulatory safety studies according to guidelines, and computational systems have been developed under the appli...
Enabling semantic queries across federated bioinformatics databases.
Database : the journal of biological databases and curation
Jan 1, 2019
MOTIVATION: Data integration promises to be one of the main catalysts in enabling new insights to be drawn from the wealth of biological data available publicly. However, the heterogeneity of the different data sources, both at the syntactic and the ...
Three Problems with Big Data and Artificial Intelligence in Medicine.
Perspectives in biology and medicine
Jan 1, 2019
The rise of big data and artificial intelligence (AI) in health care has engendered considerable excitement, claiming to improve approaches to diagnosis, prognosis, and treatment. Amidst the enthusiasm, the philosophical assumptions that underlie the...
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks.
Journal of neuromuscular diseases
Jan 1, 2019
BACKGROUND: Congenital Myotonic Dystrophy (CDM1) is a rare neuromuscular condition caused by a triplet repeat expansion in the DMPK gene. Despite there being a well-recognized clinical syndrome, there has not been an effort to use a standardized onto...
How to Develop a Drug Target Ontology: KNowledge Acquisition and Representation Methodology (KNARM).
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2019
Technological advancements in many fields have led to huge increases in data production, including data volume, diversity, and the speed at which new data is becoming available. In accordance with this, there is a lack of conformity in the ways data ...
An Ontology Approach for Knowledge Representation of ECG Data.
Studies in health technology and informatics
Jan 1, 2019
The number of features that can be extracted from ECG signals has increased with the advancement in signal processing techniques. At the same time, there is an increase in research efforts to support efficient and effective analysis and interpretatio...
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