iDASH: Integrating Data for Analysis, Anonymization, and Sharing

描述(申请人提供)：我们建议创建iDash，这是一个国家生物医学计算中心，将开发新的算法、开源工具、计算基础设施和服务，使全国的生物医学和行为研究人员能够整合数据进行分析、匿名和共享，iDash将通过提供一个安全、隐私保护的环境，使研究人员可以分析基因组、转录和高度注释的表型数据，来解决研究进展的根本挑战。利用圣地亚哥超级计算机中心(SDSC)的高性能能力，以及加州电信和信息技术研究所开发的可扩展网络基础设施，iDASH将提供工具和系统的协同应用，以推进研究和改善人类健康。IDash将通过匿名化、数据模拟和知情同意管理系统专注于隐私保护。它将通过开发跨时间和空间维度的数据注释和集成的新工具来专注于数据分析，并开发罕见事件检测和风险调整的算法。为了能够有效地分析大规模并行测序中的短片段，将开发压缩算法和一个新的基因组查询系统。 三个跨越分子-个人-群体范围的驱动生物学项目将激励、告知和支持工具的开发：(1)川崎病的分子表型；(2)抗凝剂上市后的药物监测；(3)增强体力活动的个性化干预。IDash学员将完成核心生物医学信息学课程，并将有在圣地亚哥州立大学和加州大学圣地亚哥分校接受短期和长期研究生培训的选择。我们将与其他国家CBC合作，通过面向用户和开发人员的年度研讨会、在主要会议上的演讲和科学出版物来传播工具。我们将开发一个全面的门户网站，以下载工具、上传数据、获取文件和用户友好的培训材料。一个经验丰富的领导团队将使用有效的项目管理实践来支持协作，并监测和确保朝着iDASH目标的进展。

DESCRIPTION (provided by applicant): We propose to create IDASH, a national center for biomedical computing that will develop new algorithms, open-source tools, computational infrastructure and services that will enable biomedical and behavioral researchers nationwide to integrate Data for Analysis, Anonymization, and Sharing, IDASH will address fundamental challenges to research progress by providing a secure, privacy-preserving environment in which researchers can analyze genomic, transcriptomic and highly annotated phenotypical data. Leveraging the high performance capabilities of the San Diego Supercomputer Center (SDSC), and scalable cyberinfrastructure developed by the California Institute for Telecommunications and Information Technology, iDASH will provide synergistic application of tools and systems to advance research and improve human health. iDASH will focus on privacy protection through anonymization, data simulation, and an informed consent management system. It will focus on data analysis through the development of new tools for data annotation and integration across temporal and spatial dimensions, and develop algorithms for rare event detection and risk adjustment. To enable efficient analysis of short-reads from massively parallel sequencing, compression algorithms and a new genomic query system will be developed. Three Driving Biological Projects that span the molecular-individual-population spectrum will motivate, inform and support tool development: (1) Molecular Phenotyping of Kawasaki Disease; (2) Post-Marketing Pharmacosurveillance of Anticoagulation Agents; (3) Individualized Intervention to Enhance Physical Activity. iDASH trainees will complete core biomedical informatics courses and will have options for short- and long-term graduate training at San Diego State University and UCSD. We will collaborate with other NCBCs and disseminate tools via annual workshops for users and developers, presentations at major conferences, and scientific publications. We will develop a comprehensive web portal to download tools, upload data, and obtain documentation and user-friendly training materials. An experienced leadership team will use effective project management practices to support collaboration as well as monitor and ensure progress toward iDASH goals.