eMERGE Coordinating Center

描述（由申请人提供）：确定人类特征的遗传结构是人类遗传学的一个成功和快速发展的方面。我们描述个体遗传变异的能力正迅速接近全基因组序列水平。然而，同样重要的是对性状本身的表型变化进行快速和详细的表征，这样就可以确定基因型和表型之间有意义的相关性。eMERGE网络的初始阶段探索了电子病历的快速和大规模使用

DESCRIPTION (provided by applicant): 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. RELEVANCE (See instructions): 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.