eMERGEing progress in genomics---the first seven years

Frontiers in Genetics

Jonathan L. Haines¹  Catherine Anne McCarty²  Gerard eTromp³  Helena eKuivaniemi³  Iftikhar J. Kullo⁴  M. Geoffrey Hayes⁵  Marylyn D. Ritchie⁶  David R. Crosslin⁷  Gail P. Jarvik⁷  Dan M. Roden⁸  Joshua C. Denny⁸  William Scott Bush⁸  Dana C. Crawford⁸ 

[1] Case Western Reserve University;Essentia Institute of Rural Health;Geisinger Health System;Mayo Clinic;Northwestern University;Pennsylvania State University;University of Washington;Vanderbilt University;

关键词: pharmacogenomics;    genome-wide association studies;    Electronic Medical Records;    biobanks;    eMERGE newtork;   

DOI  :  10.3389/fgene.2014.00184

来源: DOAJ

【 摘 要 】

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 couple 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 towards genomic discovery and human health, and the steps taken towards the next generation genotype-phenotype association studies and clinical implementation.

【 授权许可】

Unknown