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Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank

“The ability to conduct genome-wide association studies (GWAS) has enabled new exploration of how genetic variations contribute to health and disease etiology. However, historically GWAS have been limited by inadequate sample size due to associated costs for genotyping and phenotyping of study subjects.
This has prompted several academic medical centers to form “biobanks”where biospecimens linked to personal health information, typically in electronic health records (EHRs), are collected and stored on a large number of subjects. This provides tremendous opportunities to discover novel genotype-phenotype associations and foster hypotheses generation.”

Article
7th Space, 17 December 2012

18 December 2012 | Categories: News | Country: United States | EHR: EHR, EHR USA | Tag(s): Biobank, Semantic
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