Denaxas, SC;
Fatemifar, G;
Patel, R;
Hemingway, H;
(2017)
Deriving research-quality phenotypes from national electronic health records to advance precision medicine: a UK Biobank case-study.
In:
Proceedings of the BHI-2017 International Conference on Biomedical and Health Informatics.
IEEE Engineering in Medicine and Biology Society (EMBS): Orlando, FL, USA.
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Abstract
High-throughput genotyping and increased availability of electronic health records (EHR) are giving scientists the unprecedented opportunity to exploit routinely generated clinical data to advance precision medicine. The extent to which national structured EHR in the United Kingdom can be utilized in genome-wide association studies (GWAS) has not been systematically examined. In this study, we evaluate the performance of an EHR-derived acute myocardial infarction phenotype (AMI) for performing GWAS in the UK Biobank.
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