eMERGE Coordinating Center

描述（由申请人提供）：确定人类性状的遗传结构是人类遗传学的一个成功和快速发展的方面。我们表征个体遗传变异的能力正在迅速接近全基因组序列水平。然而，同样重要的是快速和详细的表征性状本身的表型变异，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使用电子医疗记录来快速和大规模表征表型，以及使用链接的DNA库来生成和分析遗传变异的能力。eMERGE网络已经在许多“原理证明”研究中证明了这种方法的可行性和实用性。现在重要的是确定这些方法在网络的第二和扩展阶段的可移植性和可扩展性。Vanderbiit通过补充其当前的eMERGE拨款（VGER），为初始eMERGE网络提供了基础支持。我们建议通过一个协调中心（eMERGE-CC）继续支持扩大网络，该中心将通过四个具体目标提供科学和后勤工作的结合：1）。加速表型算法开发和在eMERGE-II网络上共享; 2）.扩展方法以跨eMERGE-II网络在EMR内整合高质量基因组信息并分析所得数据; 3）.扩大和加快方法，以确定通过对来自eMERGE-II网络的组合临床和遗传数据进行研究所提供的重新识别风险和隐私水平;以及4）。继续为整个eMERGE-II网络提供后勤支持。

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.