Core--Genomics

(申请人摘要)两个因素使基因组学核心(GC)在 这份SCOR提案。首先，GC避免了潜在的资源浪费 由单个组分项目组合成一个基因分型， 排序和数据仓库基础设施。分子生物学 DNA测序和DNA基因分型中使用的技术很简单， 然而，大规模组织它们的实施需要 整合分子生物学、生产工程的“流水线” 设计、质量控制和过程监控。覆盖在这上面的是 对有效贩运数据的要求，包括样本跟踪， 技术人员和分析仪器之间的软件脚本接口， 在不同的分析仪器之间，在分析仪器之间 和数据库。最后，数据必须是可访问的。这需要理性 组织到数据库结构中，可以使用最大值进行查询 灵活性。对于每个人来说，这都是不必要的冗余和几乎不可能的 首席调查员将这些要素设计并构建为一个连贯的 系统。第二，基因组核心是提供最佳服务的最有效方式 每个项目的技术方法。DNA背后的技术 测序、DNA基因分型和基因数据管理处于极其困难的时期 发展的动态阶段。除了提供集中的技术 以基因数据为工作产品的服务，基因组学核心的一个目标是 在资助结束时，启用SCOR的每个组成部分项目 期间，继续利用最先进的技术实现其研究目标 方法：研究方法。因此，基因组学核心减轻了两者中潜在的冗余 技术执行以及评估和吸收新兴技术 到组件项目中。Walt Klimecki博士，GC的核心领导人是 非常适合指导这个关键的SCOR组件。他目前正在执导 亚利桑那大学呼吸学院的高通量基因分析 科学中心，他在年指导产品开发后转到这个职位 生物技术“初创企业”摩托罗拉生物芯片系统的多态分析 在摩托罗拉公司内部。基因组学核心将实现第一个 目标：为中心设施提供1)所有必要的设备，2) 现有的工作标准操作程序(SOP)，3)熟练的技术人员 有执行所有必要方法的经验的人员，以及4) 必要的计算基础设施。克利梅基博士将广泛交流 与每个组件项目一起制定一项实验计划。每个组件 项目将提供技术人员。大法官的任务是训练 在执行试验计划时，组件项目的人员 核心设施。Klimecki博士和GC工作人员将监测 每个项目，包括监督质量控制措施(“盲目” 引入样品链的样本)。新兴的遗传分析 将不断评估技术是否有可能整合到 组件项目。GC将监督数据管理，并与 项目调查员使数据能够在 为每个项目提供最高效的表单。GC将完成第二个任务 目的通过不断评估基因分析中的新兴技术 和数据管理。这包括评估科学文献， 出席以技术为重点的国家和国际会议(为此，我们 正在申请资金)，并通过内部技术开发(AN 我们没有要求在本SCOR范围内为其提供资金的持续努力)。

(Applicant's Abstract) Two factors make the Genomics Core (GC) a necessity in this SCOR proposal. First the GC avoids the potential wasted resources resulting from individual component projects assembling a genotyping, sequencing and data warehousing infrastructure. The molecular biological techniques used in DNA sequencing and in DNA genotyping are straightforward, however, organizing their implementation on a large scale requires the integration of molecular biology, production engineering "assembly line" design, and quality control process monitoring. Overlaid upon this is the requirement for efficient trafficking of the data, including sample tracking, software scripted interfaces between technicians and analytical instruments, between different analytical instruments, and between analytical instruments and databases. Finally the data must be accessible. This requires rational organization into database structures which can be queried with maximal flexibility. It is unnecessarily redundant and practically impossible for each Principle Investigator to design and build these elements into a coherent system. Second the Genomics Core is the most efficient way to deliver the best technical methodology to each project. The technology underlying DNA sequencing, DNA genotyping and genetic data management is in an extremely dynamic phase of development. In addition to providing a centralized technical service with genetic data as the work product, a goal of the Genomics Core is to enable each SCOR component project, at the conclusion of the funding period, to continue pursuing its research objectives using state of the art methods. Thus the Genomics Core mitigates the potential redundancy in both technical execution and in evaluating and assimilation emerging technologies into the component projects. Dr. Walt Klimecki, the Core Leader of the GC is ideally suited to direct this key SCOR component. He is currently directing high throughput genetic analysis at the University of Arizona Respiratory Sciences Center, a position he moved to after directing product development in polymorphism analysis at Motorola BioChip Systems, a biotechnology "start-up" within Motorola Incorporated. The Genomics Core will accomplish the first objective by providing a central facility with 1) All necessary equipment, 2) Existing, working, standard operating procedures (SOPs), 3) Skilled technical personnel with experience executing all necessary methods, and 4) The necessary computing infrastructure. Dr. Klimecki will interact extensively with each component project to develop an experimental plan. Each component project will provide technical personnel. The mission of the GC is to train the component projects' personnel in the execution of the experimental plan at the Core facility. Dr. Klimecki and the GC staff will monitor the progress of each project, including supervising quality control measures ("blinded" samples introduced into the sample chain). Emerging genetic analysis technologies will be continually evaluated for potential integration into component projects. The GC will supervise data management and work with project investigators to enable the data to be accessed and analyzed in the most efficient form for each project. The GC will accomplish the second objective by continually evaluating emerging technology in genetic analysis and data management. This includes evaluating scientific literature, attending national and international technology-focused meetings (for which we are requesting funding), and through internal technology development (an ongoing effort for which we are not requesting funding within this SCOR).