Dominantly Inhrited Alzheimer's Network (DIAN) Informatics Core

常染色体显性阿尔茨海默病（ADAD）占所有阿尔茨海默病的一小部分（<1%）。 但它提供了了解疾病的独特窗口。因为拥有已知 他们表示，导致ADAD的突变注定会在早期且相对可预测的年龄患上这种疾病 可以从症状前阶段开始研究，并且可以观察疾病的进展。的 显性遗传阿尔茨海默氏症网络（DIAN）将首次系统地研究ADAD， 全面的方式，从240名患者中获取生化、神经影像、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在国家信息和网络部内获得的所有数据。一 中央数据库-DIAN中央档案（DCA）-将被部署来存储数据， 以用户友好的方式提供给调查人员。将在七个表演场地采集数据， 上传到DIAN中央存储库（DCA）。上传后，数据将处于隔离状态， 已经通过了几轮质量控制检查，以识别缺失字段、异常值和其他 差异成像数据将分发到专门的质量控制中心进行系统后处理 和检查。一旦从隔离区释放，数据将提供给国家信息和行动部 调查人员通过一个安全的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。我们还将公开发布准备好的， 匿名数据集。参与者隐私和整体系统安全将得到最大限度的解决 关注核心基础设施的各个方面。 信息学核心将与其他每个核心保持密切的互动。定期报告将 与生物统计学核心一起编写，并提交给管理核心和指导委员会。 在行政和临床核心的指导下，我们将建立一个网站， 向研究界和公众提供有关DIAN的信息。数据输入和样品跟踪 将实施网页以支持遗传学、神经病理学和生物标志物核心。支持 将包括图像上传/下载工具，图像文件去识别程序， 与质量控制中心进行交流，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.