title: A standard based approach for biomedical knowledge representation.
abstract: The new generation of health information standards, where the syntax and semantics of the content is explicitly formalized, allows for interoperability in healthcare scenarios and analysis in clinical research settings. Studies involving clinical and genomic data include accumulating knowledge as relationships between genotypic and phenotypic information as well as associations within the genomic and clinical worlds. Some involve analysis results targeted at a specific disease; others are of a predictive nature specific to a patient and may be used by decision support applications. Representing knowledge is as important as representing data since data is more useful when coupled with relevant knowledge. Any further analysis and cross-research collaboration would benefit from persisting knowledge and data in a unified way. This paper describes a methodology used in Hypergenes, an EC FP7 project targeting Essential Hypertension, which captures data and knowledge using standards such as HL7 CDA and Clinical Genomics, aligned with the CEN EHR 13606 specification. We demonstrate the benefits of such an approach for clinical research as well as in healthcare oriented scenarios.
authors: IBM Haifa Research Lab, Haifa Univ. Mount Carmel Haifa, 31905, Israel.
authors: Ariel
authors: A
authors: Farkash
authors: Hani
authors: H
authors: Neuvirth
authors: Yaara
authors: Y
authors: Goldschmidt
authors: Costanza
authors: C
authors: Conti
authors: Federica
authors: F
authors: Rizzi
authors: Stefano
authors: S
authors: Bianchi
authors: Erika
authors: E
authors: Salvi
authors: Daniele
authors: D
authors: Cusi
authors: Amnon
authors: A
authors: Shabo
mesh_terms: D000465:Algorithms; D003195:Computer Communication Networks / Q000592:standards*; D003199:Computer Systems; D003201:Computers; D020000:Decision Support Systems, Clinical / Q000592:standards*; D023281:Genomics; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000628:therapy; D008490:Medical Informatics / Q000592:standards*; D016347:Medical Records Systems, Computerized; D010641:Phenotype; D011381:Programming Languages; D012984:Software; D018511:Systems Integration