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Full-Text Articles in Physical Sciences and Mathematics
An Experiment In Integrating Large Biomedical Knowledge Resources With Rdf: Application To Associating Genotype And Phenotype Information, Satya S. Sahoo, Olivier Bodenreider, Kelly Zeng, Amit P. Sheth
An Experiment In Integrating Large Biomedical Knowledge Resources With Rdf: Application To Associating Genotype And Phenotype Information, Satya S. Sahoo, Olivier Bodenreider, Kelly Zeng, Amit P. Sheth
Kno.e.sis Publications
Bridging between genotype and phenotype is generally achieved through the integration of knowledge sources such as Entrez Gene (EG), Online Mendelian Inheritance in Man (OMIM) and the Gene Ontology (GO). Traditionally, such integration implies manual effort or the development of customized software. In this paper, we demonstrate how the Resource Description Framework (RDF) can be used to represent and integrate these resources and support complex queries over the unified resource. We illustrate the effectiveness of our approach by answering a real-world biomedical query linking a specific molecular function, glycosyltransferase, to the disorder congenital muscular dystrophy, which potentially forms a new …
From “Glycosyltransferase” To “Congenital Muscular Dystrophy”: Integrating Knowledge From Ncbi Entrez Gene And The Gene Ontology, Satya S. Sahoo, Kelly Zeng, Olivier Bodenreider, Amit P. Sheth
From “Glycosyltransferase” To “Congenital Muscular Dystrophy”: Integrating Knowledge From Ncbi Entrez Gene And The Gene Ontology, Satya S. Sahoo, Kelly Zeng, Olivier Bodenreider, Amit P. Sheth
Kno.e.sis Publications
Entrez Gene (EG), Online Mendelian Inheritance in Man (OMIM) and the Gene Ontology (GO) are three complementary knowledge resources that can be used to correlate genomic data with disease information. However, bridging between genotype and phenotype through these resources currently requires manual effort or the development of customized software. In this paper, we argue that integrating EG and GO provides a robust and flexible solution to this problem. We demonstrate how the Resource Description Framework (RDF) developed for the Semantic Web can be used to represent and integrate these resources and enable seamless access to them as a unified resource. …