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J Cardiovasc Transl Res. 2014 Nov;7(8):692-700. doi: 10.1007/s12265-014-9586-0. Epub 2014 Aug 14.

A review of the role of electronic health record in genomic research.

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Department of Medicine, Englewood Hospital and Medical Center, Englewood, NJ, USA.


Electronic health record (EHR)-driven genomic research is a recent strategy used to answer research questions using EHR data linked to DNA samples. In models using EHR, after the subject's DNA is collected, a linkage between the DNA sample and the EHR data is maintained. This makes the EHR the paramount source of phenotypic information. The National Human Genome Research Institute sponsored Electronic Medical Records and Genomics (eMERGE) network began in five sites in 2007 and was expanded to nine sites in 2012. This network has developed the methods and best practices for utilizing EHR as a tool for genomic research. Therefore, it is vital to understand the configuration of EHR used to capture data in clinical practice and feasibility of integration with clinical genetic test results. We present a detailed review of the role and importance of EHR in the field of genomic research.

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