The Electronic Medical Records and Genomics (eMERGE) Network Phase III - Coordinating Center (U01)

 描述（由申请人提供）：eMERGE网络已经发展成为一个充满活力的联盟，对使用EMR进行研究和基因组医学翻译产生了国家影响。作为eMERGE I和eMERGE II协调中心（CC），我们成功地将网络站点的科学和后勤工作结合起来，取得了重大进展，包括：对55，000名受试者的GWAS数据进行插补和合并，电子病历，41个网络范围的EMR表型部署，eMERGE PGx项目的开发和集成以及PheKB和SPHINX等研究支持工具。在我们成功的基础上，并遵循eMERGE III的既定目标，我们的CC将继续作为网络的枢纽，保持我们现有的所有功能，并与网络一起发展。CC将继续负责交叉研究功能，对测序数据进行质量控制分析，协调研究间的数据，根据需要支持交叉研究分析，管理和升级eMERGE网络网站（gwas.org），促进外部合作，并组织合作项目的后勤工作。随着eMERGE使命将基因组发现研究扩展到基因组医学实践研究，我们将带来连续性和新设想的创新来支持这项重要工作，如五个拟议的具体目标所示：（1）扩展信息学工具，以加速表型分析和促进端到端的基因组医学研究。(2)在eMERGE网站上整合高质量的基因组信息。(3)安全的EMR和基因组数据共享风险缓解。(4)为整个扩大的网络提供出色的后勤支持;包括委员会、工作组、NHGRI和ESP。最后，为了跟上国家动态，我们增加了（5）与其他相关网络协同，以消除冗余，促进最佳实践的交叉授粉，并共享eMERGE工具。

 DESCRIPTION (provided by applicant): The eMERGE Network has developed as a dynamic consortium, generating national impact on the use of EMRs for research and genomic medicine translation. As the eMERGE I and then the eMERGE II Coordinating Center (CC), we successfully combined scientific and logistical efforts of network sites to make significant progress, including: imputation and merging of GWAS data on 55,000 subjects with electronic medical records, 41 network-wide EMR phenotype deployments, development and integration of the eMERGE PGx project and research enabling tools such as PheKB and SPHINX. Building off of our success and following the stated goal of eMERGE III, our CC will continue as a hub for the Network by maintaining all of our current functions and evolving with the Network. The CC will remain responsible for cross-study functions, conducting quality control analyses of sequencing data, harmonizing data across studies, supporting cross-study analyses as needed, managing and upgrading the eMERGE Network website (gwas.org), facilitating outside collaborations, and organizing the logistics of the collaborative programs. As the eMERGE mission extends genomic discoveries research into genomic medicine practice research, we will bring both continuity and freshly envisioned innovations to support this important work, as illustrated in five proposed specific aims: (1) Extending informatics tools to accelerate phenotyping and facilitate end-to-end genomic medicine research. (2) Integrate high quality genomic information across eMERGE sites. (3) Secure EMR and genomic data sharing risk mitigation. (4) Provide excellent logistical support to the entire expanded network; including committees, work groups, NHGRI and the ESP. And finally, in keeping pace with national dynamics, we add (5) Synergize with other related networks to eliminate redundancy, promote cross pollination of best practices, and share eMERGE tools.