Mba

Publications (1)0 Total impact

• Article: Use of Electronic Medical Records for Genomic Research–Preliminary Results and Lessons from the eMERGE Network

  Joshua C Denny, Abel Kho, Ms, Jyoti Pathak, David Carrell, Peggy Peissig, Mba, Dan Masys
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  ABSTRACT: Wide-spread adoption of electronic medical records (EMRs) containing rich amounts of longitudinal clinical data and the formation of EMR-linked biobanks represent an opportunity to rapidly expand sample sizes and efficiently phenotype subjects for genomic studies. The Electronic Medical Records & Genomics (eMERGE) Network consists of five leading institutions involved in EMR phenotyping with linked DNA biobanks. The goal of eMERGE is to conduct genome-wide association studies (GWAS) in approximately 19,000 individuals using EMR-derived phenotypes and biorepository-derived genome-wide genotypes. These institutions include Group Health Research Institute, Marshfield Clinic, Mayo Clinic, Northwestern University and Vanderbilt University. Each site has used electronic algorithms to identify both site-specific phenotypes and network-wide phenotypes (applied at all five sites) for genomic analysis. The panel will present data from site-specific and network-wide studies illustrating the strengths and limitations of EMRs for genomic studies. Panelists will discuss and compare approaches to developing phenotypic electronic algorithms, challenges in implementing algorithms at each site, and approaches to validation of the algorithms and genomic results. Panelists will also present results from initial studies into performing phenome-wide analyses for genetic associations. Finally, the panel will present lessons learned from these efforts.
  04/2010;