EMERGEing progress in genomics-the first seven years

Dana C. Crawford*, David R. Crosslin, Gerard Tromp, Iftikhar J. Kullo, Helena Kuivaniemi, M. Geoffrey Hayes, Joshua C. Denny, William S. Bush, Jonathan L. Haines, Dan M. Roden, Catherine A. McCarty, Gail P. Jarvik, Marylyn D. Ritchie

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

63 Scopus citations

Abstract

The electronic MEdical Records & GEnomics (eMERGE) network was established in 2007 by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) in part to explore the utility of electronic medical records (EMRs) in genome science. The initial focus was on discovery primarily using the genome-wide association paradigm, but more recently, the network has begun evaluating mechanisms to implement new genomic information coupled to clinical decision support into EMRs. Herein, we describe this evolution including the development of the individual and merged eMERGE genomic datasets, the contribution the network has made toward genomic discovery and human health, and the steps taken toward the next generation genotype-phenotype association studies and clinical implementation.

Original languageEnglish (US)
Article number184
JournalFrontiers in Genetics
Volume5
Issue numberJUN
DOIs
StatePublished - 2014

Funding

Keywords

  • Biobanks
  • Electronic medical records
  • Genome-wide association studies
  • Pharmacogenomics

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

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