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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Autori principali: Pathak, Jyotishman, Kiefer, Richard C, Bielinski, Suzette J, Chute, Christopher G
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2012
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Research
Accesso online: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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