Towards Desiderata for an Ontology of Diseases for the Annotation of Biological Datasets

There is a plethora of disease ontologies available, all potentially useful for the annotation of biological datasets. We define seven desirable features for such ontologies and examine whether or not these features are supported by eleven disease ontologies. The four ontologies most closely aligned with our desiderata are Disease Ontology, SNOMED CT, NCI thesaurus and UMLS

Desiderata for an ontology of diseases for the annotation of biological datasets.

There is a plethora of disease ontologies available, all potentially useful for the annotation of biological datasets. We define seven desirable features for such ontologies and examine whether or not these features are supported by eleven disease ontologies. The four ontologies most closely aligned with our desiderata are Disease Ontology, SNOMED CT, NCI thesaurus and UMLS

Investigating subsumption in DL-based terminologies: A case study in SNOMED CT

Formalisms such as description logics (DL) are sometimes expected to help terminologies ensure compliance with sound ontological principles. The objective of this paper is to study the degree to which one DL-based biomedical terminology (SNOMED CT) complies with such principles. We defined seven ontological principles (for example: each class must have at least one parent, each class must differ from its parent) and examined the properties of SNOMED CT classes with respect to these principles. Our major results are: 31% of the classes have a single child; 27% have multiple parents; 51% do not exhibit any differentiae between the description of the parent and that of the child. The applications of this study to quality assurance for ontologies are discussed and suggestions are made for dealing with multiple inheritance

Utilizing RxNorm to Support Practical Computing Applications: Capturing Medication History in Live Electronic Health Records

RxNorm was utilized as the basis for direct-capture of medication history data in a live EHR system deployed in a large, multi-state outpatient behavioral healthcare provider in the United States serving over 75,000 distinct patients each year across 130 clinical locations. This tool incorporated auto-complete search functionality for medications and proper dosage identification assistance. The overarching goal was to understand if and how standardized terminologies like RxNorm can be used to support practical computing applications in live EHR systems. We describe the stages of implementation, approaches used to adapt RxNorm's data structure for the intended EHR application, and the challenges faced. We evaluate the implementation using a four-factor framework addressing flexibility, speed, data integrity, and medication coverage. RxNorm proved to be functional for the intended application, given appropriate adaptations to address high-speed input/output (I/O) requirements of a live EHR and the flexibility required for data entry in multiple potential clinical scenarios. Future research around search optimization for medication entry, user profiling, and linking RxNorm to drug classification schemes holds great potential for improving the user experience and utility of medication data in EHRs.Comment: Appendix (including SQL/DDL Code) available by author request. Keywords: RxNorm; Electronic Health Record; Medication History; Interoperability; Unified Medical Language System; Search Optimizatio

The Ontology-Epistemology Divide: A Case Study in Medical Terminology

Medical terminology collects and organizes the many different kinds of terms employed in the biomedical domain both by practitioners and also in the course of biomedical research. In addition to serving as labels for biomedical classes, these names reflect the organizational principles of biomedical vocabularies and ontologies. Some names represent invariant features (classes, universals) of biomedical reality (i.e., they are a matter for ontology). Other names, however, convey also how this reality is perceived, measured, and understood by health professionals (i.e., they belong to the domain of epistemology). We analyze terms from several biomedical vocabularies in order to throw light on the interactions between ontological and epistemological components of these terminologies. We identify four cases: 1) terms containing classification criteria, 2) terms reflecting detectability, modality, uncertainty, and vagueness, 3) terms created in order to obtain a complete partition of a given domain, and 4) terms reflecting mere fiat boundaries. We show that epistemology-loaded terms are pervasive in biomedical vocabularies, that the “classes” they name often do not comply with sound classification principles, and that they are therefore likely to cause problems in the evolution and alignment of terminologies and associated ontologies

From phenotype to genotype: issues in navigating the available information resources

pre-printObjectives-As part of an investigation of connecting health professionals and the lay public to both disease and genomic information, we assessed the availability and nature of the data from the Human Genome Project relating to human genetic diseases. Methods-We focused on a set of single gene diseases selected from main topics in MEDLINEplus, the NLM's principal resource focused on consumers. We used publicly available websites to investigate specific questions about the genes and gene products associated with the diseases. We also investigated questions of knowledge and data representation for the information resources and navigational issues. Results-Many online resources are available but they are complex and technical. The major challenges encountered when navigating from phenotype to genotype were (1) complexity of the data, (2) dynamic nature of the data, (3) diversity of foci and number of information resources, and (4) lack of use of standard data and knowledge representation methods. Conclusions-Three major informatics issues arise from the navigational challenges. First, the official gene names are insufficient for navigation of these web resources. Second, navigational inconsistencies arise from difficulties in determining the number and function of alternate forms of the gene or gene product and maintaining currency with this information. Third, synonymy and polysemy cause much confusion. These are severe obstacles to computational navigation from phenotype to genotype, especially for individuals who are novices in the underlying science. Tools and standards to facilitate this navigation are sorely needed

Exposing Provenance Metadata Using Different RDF Models

A standard model for exposing structured provenance metadata of scientific assertions on the Semantic Web would increase interoperability, discoverability, reliability, as well as reproducibility for scientific discourse and evidence-based knowledge discovery. Several Resource Description Framework (RDF) models have been proposed to track provenance. However, provenance metadata may not only be verbose, but also significantly redundant. Therefore, an appropriate RDF provenance model should be efficient for publishing, querying, and reasoning over Linked Data. In the present work, we have collected millions of pairwise relations between chemicals, genes, and diseases from multiple data sources, and demonstrated the extent of redundancy of provenance information in the life science domain. We also evaluated the suitability of several RDF provenance models for this crowdsourced data set, including the N-ary model, the Singleton Property model, and the Nanopublication model. We examined query performance against three commonly used large RDF stores, including Virtuoso, Stardog, and Blazegraph. Our experiments demonstrate that query performance depends on both RDF store as well as the RDF provenance model