Dominantly Inhrited Alzheimer's Network (DIAN) Informatics Core

常染色体显性遗传性阿尔茨海默病(ADAD)只占所有阿尔茨海默病的一小部分(1%) 疾病病例，但它为了解疾病提供了一个独特的窗口。因为个人拥有已知的 导致ADAD的突变注定会在相对可预测的早期发病，他们说 可以从症状前阶段进行研究，并可以观察疾病的进展。这个 主要遗传性阿尔茨海默病网络(DIAN)将首次系统地和 综合方式，从240项中获取生化、神经成像、认知和临床指标 来自已知ADAD突变家族的个体。 信息学核心将负责管理DIAN内获得的所有数据。一个 将部署中央数据库--DIAN中央档案馆(DCA)--来存储和制作数据 以用户友好的方式向调查人员提供。数据将在七个表演场地和 已上传到DIAN中央存储库(DCA)。一旦上传，数据将被隔离，直到 已经通过了几轮质量控制检查，以确定缺少的字段、离群值和其他 差异。成像数据将被分发到专门的质量控制站点进行系统的后处理 和检查。一旦从隔离中释放，数据将提供给DIAN 调查人员通过安全、用户友好的网络界面。该界面将允许用户定位和连接数据 在研究中获得的所有指标中。我们还将公开发布已准备好的、 匿名数据集。将尽最大努力解决参与者隐私和整体系统安全问题 关注核心基础设施的所有方面。 信息学核心将与其他核心保持密切互动。定期报告将 与生物统计核心一起编制，并提交给行政核心和指导委员会。 在行政部门和临床科室的指导下，我们将创建一个网站来分发 向研究界和公众提供有关DIAN的信息。数据录入和样本跟踪 网页将用于支持遗传学、神经病理学和生物标记物核心。支持 成像核心将包括图像上传/下载工具、图像文件识别程序、 与质量控制站点交流，并实施自动化处理和分析工作流程。

Autosomal dominant Alzheimer's Disease (ADAD) represents a small fraction (<1%) of all Alzheimer's Disease cases, but it presents a unique window into the disease. Because individuals possessing known ADAD-causing mutations are destined to develop the disease at an early and relatively predictable age, they can be studied from a presymptomatic stage and the progression of the disease can be observed. The Dominantly Inherited Alzheimer's Network (DIAN) will, for the first time, study ADAD in a systematic and comprehensive manner, acquiring biochemical, neuroimaging, cognitive, and clinical measures from 240 individuals from families with known ADAD mutations. The Informatics Core will be responsible for managing all of the data acquired within DIAN. A centralized database - the DIAN Central Archive (DCA) - will be deployed to store the data and make it available to investigators in a user-friendly manner. Data will be acquired at seven performance sites and uploaded into the DIAN Central Repository (DCA). Once uploaded, the data will reside in quarantine until has passed several rounds of quality control checks to identify missing fields, outliers, and other discrepancies. Imaging data will be distributed to dedicated quality control sites for systematic postprocessing and inspection. Once released from quarantine, the data will be made available to DIAN investigators via a secure user-friendly web interface. The interface will allow users to locate and join data across all of the measures obtained in the study. We will also make available public releases of prepared, anonymized data sets. Participant privacy and overall system security will be addressed with the utmost attention in all aspects of the Core's infrastructure. The Informatics Core will maintain close interactions with each of the other cores. Regular reports will be prepared with the Biostatistics Core and presented to the Administration Core and Steering Committee. Under the direction of the Administration and Clinical Cores, we will create a website for distributing information about DIAN to the research community and the general public. Data entry and sample tracking web pages will be implemented to support the Genetics, Neuropathology, and Biomarkers cores. Support for the Imaging Core will include image upload/download tools, image file de-identification procedures, exchange with quality control sites, and implementation of automated processing and analysis workflows.