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

将自闭症遗传资源交换 (AGRE) 的数据源与 NDAR 关联起来

• 批准号: 8061021
• 负责人: Clara M Lajonchere
• 金额: $ 14.1万
• 依托单位: AUTISM SPEAKS, INC.
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-06-01 至 2011-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8061021
• 关键词: Address; Agreement; Area; Authorization documentation; Autistic Disorder; Behavioral; Bioinformatics; Clinical; Collaborations; Collection; Committee Members; Communities; Complex; DNA; Data; Data Collection; Data Set; Data Sources; Databases; Development; Dictionary; Electronics; Environment; Family; Family history of; Family member; Family-Based Registry; Genetic; Genetic Databases; Goals; Grant; Health; Heterogeneity; Individual; Informatics; Information Systems; Investigation; Investments; Leadership; Libraries; Link; Maps; Measures; Medical; Methods; Molecular; Names; National Institute of Mental Health; Needs Assessment; Neurodevelopmental Disorder; Patient Self-Report; Patients; Phenotype; Policies; Process; Protocols documentation; Qualifying; Questionnaires; Request for Applications; Research; Research Infrastructure; Research Personnel; Resources; Sampling; Schedule; Secure; Services; Site; Solutions; Source; Staging; System; Systems Integration; Technology; Validation; autism spectrum disorder; clinical phenotype; data exchange; data management; data mining; data sharing; firewall; genetic analysis; genetic resource; improved; innovation; knowledge base; multidisciplinary; programs; repository; special interest group; systems research

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.

描述（由申请人提供）：该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）联系起来。本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）的联盟站点。AGRE是自闭症之声的一个项目，它积累了一个极其强大的临床数据集，其中包括详细的医学、发育、形态学、人口统计学和行为信息，使其成为4000多名自闭症患者及其家庭成员丰富的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。该应用程序将通过汇集临床表型、数据收集、数据管理、系统集成和遗传分析方面的领导者，提供一个共享的公共平台，促进数据共享和更广泛的科学合作，从而加快自闭症研究的步伐，从而增强AGRE。这将在数量和范围上大大提高NDAR用户可用的知识库，使他们能够推进对自闭症潜在原因的分析和调查。复杂的神经发育障碍，如自闭症，最好是通过合作研究，汇集大量的患者样本，以加快研究的步伐。自闭症谱系障碍（ASD）的综合临床和遗传数据库的可用性，如自闭症之声（autism Speaks）的自闭症遗传资源交换（autism genetic Resource Exchange， AGRE），对ASD的遗传研究轨迹产生了重大影响。这个项目的目标是建立AGRE项目的能力，作为国家自闭症研究数据库（NDAR）的数据联盟站点。通过这笔拨款，AGRE将能够为更多的自闭症研究人员提供更广泛的综合表型和遗传数据集。