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Genotyping is a process in which an individual’s DNA is examined to reveal specific traits and
alleles. Within the eMERGE Network all participants are genotyped by individual sites, and this individual level
data is then combined to create a de-identified dataset used for analysis. All data are sent through a strict quality
control protocol and imputed to guarantee consistency and quality. The Genomics Workgroup handles all GWAS
data QC and analysis. The Network uses the Illumina 660W platform for Caucasian
cohorts and the Illumina 1M platform for the (QRS) and Type 2 Diabetes (T2D) African American cohorts. Additional
genotyping efforts have focused on pharmacogenomic specific samples and the identification of null
variants within the main eMERGE dataset.

genomics graphic web

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

Projects/ Studies

  • Imputation
  • Null Variants

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


In the News

Here's what's happening with eMerge:


eMERGE is excited to share the results of the national multi-site survey it conducted to investigate public attitudes towards consent and data sharing in biobank research recently publish in AJHG.  For...


To All eRecordCounter Users, We have an upcoming scheduled maintenance window beginning Tuesday, February 21st through Sunday, February 26th. During this time, the eMERGE Record Counter application...


The 3rd International Workshop on Genome Privacy and Security (GenoPri'16) is a community effort for promoting genome privacy and security, co-sponsored by the eMERGE...


Safe travels to our eMERGE investigators as they head to Vancouver this week to participate in ASHG 2016. Click here to view a list of eMERGE-specific presentations and here for general eMERGE...