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

BACKGROUND: 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...

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Hlavní autoři: Pathak, Jyotishman, Kiefer, Richard C, Bielinski, Suzette J, Chute, Christopher G
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3554594/
https://ncbi.nlm.nih.gov/pubmed/23244446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2041-1480-3-10
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