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:


eMERGE Network is excited to share that Dr. Douglas Pet's project, Physicians Raise Concerns on Receiving Unsolicited Genomic Results; was published in Genetics in Medicine. The publication...


CDC's new blog post: Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world? Posted on May 8, 2018 by 




Please find below a special note from the NHGRI Director, Eric Green. ******************************************************************** Dear NHGRI Grantee: In order to capitalize on the opportunities...