Linking Data Sources from the Autism Genetic Resource Exchange (AGRE) with NDAR

描述(由申请人提供)：本申请涉及广泛的挑战领域(06)使能技术和特定的挑战主题，06-MH-104，将数据资源与NIH的国家自闭症研究数据库(NDAR)相链接。该应用程序建议增强自闭症遗传资源交换(AGRE)的基础设施，以便AGRE可以作为国家自闭症研究数据库(NDAR)的联合站点。自闭症演讲计划Agre已经积累了极其强大的临床数据集，其中包括详细的医疗、发育、形态、人口统计和行为信息，使其成为针对4000多名自闭症患者和家庭成员的丰富、多学科数据的最大系统存储库之一。将AGRE的表型数据与来自多个来源的遗传信息相结合，将为数据挖掘提供极其丰富的数据集。这一应用将增强AGRE，将临床表型、数据收集、数据管理、系统集成和基因分析领域的领先者聚集在一起，提供一个共享的通用平台，促进更广泛的数据共享和科学合作，以加快自闭症研究的步伐。这将在数量和范围上极大地增强ndar用户可用的知识库，使他们能够进一步分析和调查自闭症的根本原因。像自闭症这样的复杂神经发育障碍最好通过合作研究努力来解决，这些研究工作汇集了大量患者样本，以加快研究步伐。自闭症谱系障碍(ASD)的全面临床和遗传数据库的可获得性，如孤独症演讲的自闭症遗传资源交换(AGRE)，已经对ASD的遗传学研究的轨迹产生了实质性的影响。该项目的目标是建设AGRE计划的能力，使其成为国家自闭症研究数据库(NDAR)的数据联邦站点。通过这笔赠款，AGRE将能够向更大范围的自闭症研究人员提供更广泛的综合表型和基因数据集。

DESCRIPTION (provided by applicant): This application addresses Broad Challenge Area (06) Enabling Technologies and specific Challenge Topic, 06-MH-104, Linking data resources with NIH's National Database for Autism Research (NDAR). This application proposes to enhance the infrastructure of the Autism Genetic Resource Exchange (AGRE) so that AGRE can serve as a federation site for the National Database for Autism Research (NDAR). AGRE, a program of Autism Speaks, has amassed an extremely robust clinical dataset that includes detailed medical, developmental, morphological, demographic and behavioral information making it one of the largest systematic repositories of rich, multidisciplinary data for over 4000 ASD individuals and family members. Integrating AGRE's phenotype data with genetic information from multiple sources will provide an extremely rich dataset for data mining. This application will enhance AGRE by bringing together the leaders in clinical phenotyping, data collection, data management, systems integration, and genetic analysis to provide a shared common platform that will facilitate data sharing and scientific collaboration on a broader scale to accelerate the pace of autism research. This will greatly enhance, in both quantity and scope, the knowledge base available to NDAR users, allowing them to advance their analysis and investigation of the underlying causes of autism. Complex neurodevelopmental disorders such as autism are best approached by collaborative research efforts that pool large patient samples to accelerate the pace of research. The availability of comprehensive clinical and genetic databases for autism spectrum disorders (ASD) such as Autism Speaks' Autism Genetic Resource Exchange (AGRE) has had a substantial influence on the trajectory of genetic studies of ASD. The goal of this project is to build the capacity of the AGRE program to serve as a data federation site for the National Database for Autism Research (NDAR). Through this grant, AGRE will be able to make comprehensive phenotype and genetic datasets more broadly available to a larger community of autism researchers.