Dataset Information

OKCAM: an ontology-based, human-centered knowledgebase for cell adhesion molecules.

ABSTRACT: 'Cell adhesion molecules' (CAMs) are essential elements of cell/cell communication that are important for proper development and plasticity of a variety of organs and tissues. In the brain, appropriate assembly and tuning of neuronal connections is likely to require appropriate function of many cell adhesion processes. Genetic studies have linked and/or associated CAM variants with psychiatric, neurologic, neoplastic, immunologic and developmental phenotypes. However, despite increasing recognition of their functional and pathological significance, no systematic study has enumerated CAMs or documented their global features. We now report compilation of 496 human CAM genes in six gene families based on manual curation of protein domain structures, Gene Ontology annotations, and 1487 NCBI Entrez annotations. We map these genes onto a cell adhesion molecule ontology that contains 850 terms, up to seven levels of depth and provides a hierarchical description of these molecules and their functions. We develop OKCAM, a CAM knowledgebase that provides ready access to these data and ontologic system at http://okcam.cbi.pku.edu.cn. We identify global CAM properties that include: (i) functional enrichment, (ii) over-represented regulation modes and expression patterns and (iii) relationships to human Mendelian and complex diseases, and discuss the strengths and limitations of these data.

SUBMITTER: Li CY

PROVIDER: S-EPMC2686464 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature

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OKCAM: an ontology-based, human-centered knowledgebase for cell adhesion molecules.

Li Chuan-Yun CY Liu Qing-Rong QR Zhang Ping-Wu PW Li Xiao-Mo XM Wei Liping L Uhl George R GR

Nucleic acids research 20080912 Database issue

'Cell adhesion molecules' (CAMs) are essential elements of cell/cell communication that are important for proper development and plasticity of a variety of organs and tissues. In the brain, appropriate assembly and tuning of neuronal connections is likely to require appropriate function of many cell adhesion processes. Genetic studies have linked and/or associated CAM variants with psychiatric, neurologic, neoplastic, immunologic and developmental phenotypes. However, despite increasing recognit ...[more]

PMID: 18790807

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Project description:BackgroundA Cardiac-centered Frailty Ontology can be an important foundation for using NLP to assess patient frailty. Frailty is an important consideration when making patient treatment decisions, particularly in older adults, those with a cardiac diagnosis, or when major surgery is a consideration. Clinicians often report patient's frailty in progress notes and other documentation. Frailty is recorded in many different ways in patient records and many different validated frailty-measuring instruments are available, with little consistency across instruments. We specifically explored concepts relevant to decisions regarding cardiac interventions. We based our work on text found in a large corpus of clinical notes from the Department of Veterans Affairs (VA) national Electronic Health Record (EHR) database.ResultsThe full ontology has 156 concepts, with 246 terms. It includes 86 concepts we expect to find in clinical documents, with 12 qualifier values. The remaining 58 concepts represent hierarchical groups (e.g., physical function findings). Our top-level class is clinical finding, which has children clinical history finding, instrument finding, and physical examination finding, reflecting the OGMS definition of clinical finding. Instrument finding is any score found for the existing frailty instruments. Within our ontology, we used SNOMED-CT concepts where possible. Some of the 86 concepts we expect to find in clinical documents are associated with the properties like ability interpretation. The concept ability to walk can either be able, assisted or unable. Each concept-property level pairing gets a different frailty score. Each scored concept received three scores: a frailty score, a relevance to cardiac decisions score, and a likelihood of resolving after the recommended intervention score. The ontology includes the relationship between scores from ten frailty instruments and frailty as assessed using ontology concepts. It also included rules for mapping ontology elements to instrument items for three common frailty assessment instruments. Ontology elements are used in two clinical NLP systems.ConclusionsWe developed and validated a Cardiac-centered Frailty Ontology, which is a machine-interoperable description of frailty that reflects all the areas that clinicians consider when deciding which cardiac intervention will best serve the patient as well as frailty indications generally relevant to medical decisions. The ontology owl file is available on Bioportal at http://bioportal.bioontology.org/ontologies/CCFO .

Dataset Information

OKCAM: an ontology-based, human-centered knowledgebase for cell adhesion molecules.

Publications

OKCAM: an ontology-based, human-centered knowledgebase for cell adhesion molecules.

Similar Datasets

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