Return to Projects Page.

Genotyping is a process in which an individual’s DNA is examined to reveal specific traits and alleles. Currently the Network has launched an effort to sequence DNA from 25,000 participants across the consortium. These genotypes are being sequenced on an eMERGE specific panel and the results will then be returned to the participants. Previously the eMERGE Network successfully sequenced and returned pharmacogenomic specific genes.

The eMERGE Network also uses data from participants that are genotyped by individual sites, and this individual level data is then combined to create a de-identified dataset used for analysis across the Network. All data are sent through a strict quality control protocol and imputed to guarantee consistency and quality.  Recently the eMERGE I-III GWAS data were imputed off the Haplotype Reference Consortium (HRC reference) using the Michigan Imputation Server. This produced a dataset with over 83,000 samples that is linked to phenotypic information across the sites. The Genomics Workgroup handles all data QC and analysis. Please see the below tables for a break down of count by site and platform.

 Data Set Counts

For additional details on the platforms used in the eMERGE data sets please click here.

Data Counts by Site
Genomics-Related Publications

*Click here to view a listing of eMERGE Studies currently available in dbGaP.


In the News

Here's what's happening with eMerge:


The Electronic Medical Records & Genomics (eMERGE) Network is thrilled to be represented by our investigators at the American Medical Informatics Association (AMIA) Annual Symposium, hosted November...


An upcoming scheduled maintenance window is starting Tuesday, September 5th and ending Wednesday, September 6th. During this time, the RD Discover, SD Discover, Subject Locator and Record Counter applications...


The NIH/NHGRI has published IGNITE II RFAs which are linked below for your convenience.

  • Implementing Genomics in Practice (IGNITE) II: Pragmatic Clinical Trials – Clinical Groups...


CMS announced last week it will award up to $30 million in grant funding to clinical specialty societies, clinical professional organizations and independent research organizations to develop quality measures...