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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
- Crosslin DR, Tromp G, Burt A, Kim DS, Verma SS…de Andrade M. Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to Electronic Health Records. Front Genet. 2014 Nov 4;5:352. PMID: 25414722
- Meng XR, Song JY, Ma J, Liu FH…Wang HJ. Association study of childhood obesity with eight genetic variants recently identified by genome-wide association studies. Pediatr Res. 2014 Sep;76(3):310-5. PMID: 24956226
- Williams SM. Identifying population differences in genes that affect body mass index. Genome Med. 2013; 5(11): 102. PMCID: 3978763
*Click here to view a listing of eMERGE Studies currently available in dbGaP.