eMERGE Coordinating Center

eMERGE 协调中心

• 批准号: 8523950
• 负责人: DANA C CRAWFORD
• 金额: $ 95.85万
• 依托单位: VANDERBILT UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-08-15 至 2015-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8523950
• 关键词: Adoption; Algorithms; Architecture; Award; Base Pairing; Chromosomes; Clinical; Clinical Informatics; Clinical Research; Code; Communication; Computerized Medical Record; Computing Methodologies; Consult; DNA Repository; Data; Data Analyses; Deposition; Development; Disease; Fostering; Funding; Genetic; Genetic Variation; Genomics; Genotype; Goals; Grant; Guidelines; Human; Human Genetics; Human Resources; Individual; Institutes; Instruction; Libraries; Link; Methods; Molecular Genetics; Phase; Phenotype; Principal Investigator; Privacy; Procedures; Quality Control; Research; Research Support; Resolution; Risk; Risk Assessment; Role; Scanning; Services; Site; Structure; Teleconferences; Testing; Translating; Variant; Work; biobank; clinical care; data sharing; database of Genotypes and Phenotypes; experience; gene interaction; genetic technology; genome sequencing; genome wide association study; meetings; multidisciplinary; portability; programs; success; tool; trait; web site; working group

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.

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病历进行快速和大规模的 表型的表征和使用连接的DNA库来产生和分析遗传变异的能力。eMERGE网络已经在一些“原理证明”研究中证明了这一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。Vanderbit通过补充其当前的eMERGE赠款（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）。加速表型算法的开发和在eMERGE-ll网络中的共享; 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。 相关性（参见说明）：eMERGE项目的目标是开发使用电子病历数据和遗传研究数据的方法，以更好地了解临床疾病的遗传基础。另一个目标是将这些信息整合到临床护理中。协调中心的作用是支持这些活动。