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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Bibliographic Details
Main Authors: Pathak, Jyotishman, Kiefer, Richard C, Bielinski, Suzette J, Chute, Christopher G
Format: Artigo
Language:Inglês
Published: BioMed Central 2012
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Research
Online Access: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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