AIMC Topic: Biological Ontologies

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The CellML Metadata Framework 2.0 Specification.

Journal of integrative bioinformatics
The CellML Metadata Framework 2.0 is a modular framework that describes how semantic annotations should be made about mathematical models encoded in the CellML (www.cellml.org) format, and their elements. In addition to the Core specification, there ...

MELLO: Medical lifelog ontology for data terms from self-tracking and lifelog devices.

International journal of medical informatics
OBJECTIVE: The increasing use of health self-tracking devices is making the integration of heterogeneous data and shared decision-making more challenging. Computational analysis of lifelog data has been hampered by the lack of semantic and syntactic ...

A fuzzy-ontology-oriented case-based reasoning framework for semantic diabetes diagnosis.

Artificial intelligence in medicine
OBJECTIVE: Case-based reasoning (CBR) is a problem-solving paradigm that uses past knowledge to interpret or solve new problems. It is suitable for experience-based and theory-less problems. Building a semantically intelligent CBR that mimic the expe...

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Bioinformatics (Oxford, England)
MOTIVATION: Exome sequencing has become a de facto standard method for Mendelian disease gene discovery in recent years, yet identifying disease-causing mutations among thousands of candidate variants remains a non-trivial task.

Perspectives on next steps in classification of oro-facial pain - part 1: role of ontology.

Journal of oral rehabilitation
The purpose of this study was to review existing principles of oro-facial pain classifications and to specify design recommendations for a new system that would reflect recent insights in biomedical classification systems, terminologies and ontologie...

Combining expert knowledge and knowledge automatically acquired from electronic data sources for continued ontology evaluation and improvement.

Journal of biomedical informatics
INTRODUCTION: A common bottleneck during ontology evaluation is knowledge acquisition from domain experts for gold standard creation. This paper contributes a novel semi-automated method for evaluating the concept coverage and accuracy of biomedical ...

Using ontologies to improve semantic interoperability in health data.

Journal of innovation in health informatics
The present-day health data ecosystem comprises a wide array of complex heterogeneous data sources. A wide range of clinical, health care, social and other clinically relevant information are stored in these data sources. These data exist either as s...

A literature-driven method to calculate similarities among diseases.

Computer methods and programs in biomedicine
BACKGROUND: "Our lives are connected by a thousand invisible threads and along these sympathetic fibers, our actions run as causes and return to us as results". It is Herman Melville's famous quote describing connections among human lives. To paraphr...

Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases.

Scientific reports
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are s...