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OBJECTIVE To allow exchange of clinical practice guidelines among institutions and computer-based applications. DESIGN The GuideLine Interchange Format (GLIF) specification consists of GLIF model and the GLIF syntax. The GLIF model is an object-oriented representation that consists of a set of classes for guideline entities, attributes for those classes,(More)
The approach taken by the Unified Medical Language System (UMLS), in which disparate terminology systems are integrated, has allowed construction of an electronic thesaurus (the Metathesaurus) that avoids imposing any restrictions upon the content, structure, or semantics of the source terminologies. As such, the UMLS has served as a unifying paradigm by(More)
The Pharmacogenetics Knowledge Base (PharmGKB; http://www.pharmgkb.org/) contains genomic, phenotype and clinical information collected from ongoing pharmacogenetic studies. Tools to browse, query, download, submit, edit and process the information are available to registered research network members. A subset of the tools is publicly available. PharmGKB(More)
Computer-based systems that support health care require large controlled terminologies to manage names and meanings of data elements. These terminologies are not static, because change in health care is inevitable. To share data and applications in health care, we need standards not only for terminologies and concept representation, but also for(More)
Ontologies are useful for organizing large numbers of concepts having complex relationships, such as the breadth of genetic and clinical knowledge in pharmacogenomics. But because ontologies change and knowledge evolves, it is time consuming to maintain stable mappings to external data sources that are in relational format. We propose a method for(More)
The authors describe a framework, based on the Ogden-Richards semiotic triangle, for understanding the relationship between the Unified Medical Language System (UMLS) and the source terminologies from which the UMLS derives its content. They pay particular attention to UMLS's Concept Unique Identifier (CUI) and the sense of "meaning" it represents as(More)
BACKGROUND Researchers who use MEDLINE for text mining, information extraction, or natural language processing may benefit from having a copy of MEDLINE that they can manage locally. The National Library of Medicine (NLM) distributes MEDLINE in eXtensible Markup Language (XML)-formatted text files, but it is difficult to query MEDLINE in that format. We(More)
Research directed toward discovering how genetic factors influence a patient's response to drugs requires coordination of data produced from laboratory experiments, computational methods, and clinical studies. A public repository of pharmacogenetic data should accelerate progress in the field of pharmacogenetics by organizing and disseminating public(More)
MOTIVATION The information model chosen to store biological data affects the types of queries possible, database performance, and difficulty in updating that information model. Genetic sequence data for pharmacogenetics studies can be complex, and the best information model to use may change over time. As experimental and analytical methods change, and as(More)