The new study, published Thursday in the journal Science, is based on data collected by the eMerge network, which includes the medical records and matching DNA sequences of 28,000 people in the U.S. The researchers also worked with a previously published map of all the places where genetic variants derived from Neanderthals had been found in the human genome. .
To facilitate the construction of accurate prediction models for cardiometabolic risk, the eMERGE network has begun extracting clinical lipid data from multiple participating sites.
Genome-wide association analyses were conducted in the Marshfield PMRP cohort using 522,204 SNPs which passed rigorous quality control procedures established by the eMERGE network.
These algorithms have also been validated and published [43], and the programming pseudocode is freely available through the eMERGE network (www.gwas.org).org
Finally, consistent with the goals of the eMERGE network, we are developing phenotyping algorithms to enable EMR-based genomic studies of other medically relevant quantitative traits and assessing the extent to which the algorithms are portable across EMR systems.
We next investigated GxG interaction in this same dataset, using an approach that leverages existing biological knowledge [33] [35].We required that any GxG interactions in this cohort (n = 3740 PMRP participants) showed evidence of replication in the de-identified EMRs of a second cohort from the eMERGE network (n = 1858 records from the BioVU project [36]).
Several large-scale research activities are underway, including the eMERGE Network (electronic Medical Records and Genomics, http://emerge.mc.vanderbilt.edu/emerge-network), and the Personal Genome Project (1).
The Marshfield Clinic PMRP is a member of the NHGRI-funded eMERGE network (http://www.gwas.net)[ 12].
Ranking algorithm for the prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.
The Genomics workgroup is developing a uniform QC pipeline for the eMERGE network that will be publicly available upon completion.
Selection algorithm for the prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.
