Determining the genetic architecture of human traits has been a successful and rapidly advancing aspect of Human Genetics. Our ability to characterize individual genetic variation is rapidly approaching the whole genome sequence level. However, equally important is rapid and detailed characterization of the phenotypic variation in the traits themselves, such that meaningful correlations can be identified between genotype and phenotype. The initial phase of the eMERGE network explored the use of electronic medical records for rapid and large-scale characterization of phenotypes and the ability to use linked DNA repositories to generate and analyze genetic variation. The eMERGE network has already demonstrated the viability and utility of this approach in a number of """"""""proof-of-principle"""""""" studies. It is now important to determine the portability and expandability of these approaches in a second and expanded phase of the network. Vanderbiit provided the underlying support for the initial eMERGE network through a supplement to its current eMERGE grant (VGER). We propose to continue our support for an expanded network through a coordinating center (eMERGE-CC) that will provide a combination of scientific and logistical efforts through four specific aims: 1). Accelerate phenotype algorithm development and sharing across the eMERGE-ll network;2). Expand methods to integrate high quality genomic information within EMRs across the eMERGE-ll network and analyze the resulting data;3). Expand and accelerate methods to determine the reidentification risk and levels of privacy afforded by performing research on combined clinical and genetic data from the eMERGE-ll network;and 4). Continue to provide logistical support to the entire eMERGE-ll network.
The goal of the eMERGE project is to develop methods for using data from electronic medical records and data from genetic studies to better understand the genetic underpinnings of clinical disease. A further goal is to integrate this information into clinical care. The role of the Coordinating Center is to support these activities.
|Peissig, Peggy; Schwei, Kelsey M; Kadolph, Christopher et al. (2017) Prototype Development: Context-Driven Dynamic XML Ophthalmologic Data Capture Application. JMIR Med Inform 5:e27|
|Rasmussen-Torvik, Laura J; Almoguera, Berta; Doheny, Kimberly F et al. (2017) Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study. J Mol Diagn 19:561-566|
|Sanderson, Saskia C; Brothers, Kyle B; Mercaldo, Nathaniel D et al. (2017) Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. Am J Hum Genet 100:414-427|
|Nadkarni, Girish N; Galarneau, Geneviève; Ellis, Stephen B et al. (2017) Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans. J Am Coll Cardiol 69:1564-1574|
|Li, Bo; Vorobeychik, Yevgeniy; Li, Muqun et al. (2017) Scalable Iterative Classification for Sanitizing Large-Scale Datasets. IEEE Trans Knowl Data Eng 29:698-711|
|Sileshi, Bantayehu; Newton, Mark W; Kiptanui, Joash et al. (2017) Monitoring Anesthesia Care Delivery and Perioperative Mortality in Kenya Utilizing a Provider-driven Novel Data Collection Tool. Anesthesiology 127:250-271|
|Hall, Molly A; Wallace, John; Lucas, Anastasia et al. (2017) PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies. Nat Commun 8:1167|
|Holzinger, Emily R; Verma, Shefali S; Moore, Carrie B et al. (2017) Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Min 10:25|
|Rasmussen, Luke V; Overby, Casey L; Connolly, John et al. (2016) Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform 7:870-82|
|Li, Muqun; Carrell, David; Aberdeen, John et al. (2016) Optimizing annotation resources for natural language de-identification via a game theoretic framework. J Biomed Inform 61:97-109|
Showing the most recent 10 out of 65 publications