title: From "glycosyltransferase" to "congenital muscular dystrophy": integrating knowledge from NCBI Entrez Gene and the Gene Ontology.
abstract: 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. 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.
authors.affiliation: Kno.e.sis Center, Department of Computer Science and Engineering, Wright State University, Dayton, OH, USA.
authors.forename: Satya S
authors.initials: SS
authors.lastname: Sahoo
authors.forename: Kelly
authors.initials: K
authors.lastname: Zeng
authors.forename: Olivier
authors.initials: O
authors.lastname: Bodenreider
authors.forename: Amit
authors.initials: A
authors.lastname: Sheth
mesh_terms: D030541:Databases, Genetic; D005796:Genes; D006801:Humans; D011381:Programming Languages; D018511:Systems Integration; D018875:Vocabulary, Controlled