WashU-Northwestern Genomic Variation and Function Data and Administrative Coordinating Center

项目总结 美国西北大学基因组变异与功能数据的目标与管理 IGVF联盟的协调中心(IGVF-DACC)组件负责收集、存储、管理和展示 IGVF联盟生成的所有数据、元数据和分析工具。DACC将协助制定 以及传播将由整个社区采用的元数据和标准，采取综合办法 分析各种数据类型，以及便于访问和理解的可视化和分析工具 向非专家用户提供复杂的数据集。最终，IGVF联盟将生产工具、分析、模型、 以及形成变体目录及其功能影响的数据。我们将把DACC发展成为一个实质性的 允许科学研究充分利用IGVF参考目录或地图的服务组织。至 支持IGVF联盟，我们将建立具有应用框架的数据库，以促进复杂 数据加载。我们将包括详细的实验描述和元数据。我们将定义和发展 将所有联盟成员连接到数据并创建分发数据的访问途径的管道 给更大的生物研究界。我们将建立元数据要求、受控词汇、 所有IGVF数据的标准化数据格式和质量控制指标。我们将把实验室聚集在一起 通过与实验室的实验分析来生成复杂的数据类型，这些实验室使用 用于定义基因组变异对基因组功能的影响以及这些影响如何形成的计算工具 表型。通过创建结构和数据流管道来验证和确认所有数据和 通过提供元数据文件编制程序，数据协调中心将加强政府间志愿人员框架的数据编制。这个 DACC还将通过创建和调整分析管道以及开发 先进的Genome浏览器功能，用于IGVF数据的可视化集成。此外，我们还将使IGVF Web 这将是丰富的实验数据和计算分析的主要切入点。这个 门户将整合这些数据资源，并通过增强的搜索和浏览使其可用 能力。最后，毒品和犯罪问题办公室将通过许多媒体提供文件、培训和宣传，包括 书面文档、视频教程、在线书籍、网络研讨会以及会议研讨会和演示文稿。

PROJECT SUMMARY The goals of the WashU-Northwestern Genomic Variation and Function Data and Administrative Coordinating Center (IGVF-DACC) component of the IGVF Consortium are to collect, store, curate, and display all data, metadata, and analysis tools generated by the IGVF Consortium. The DACC will assist in developing and disseminating metadata and standards to be adopted by the community at large, approaches for integrative analysis of a wide range of data types, and visualization and analysis tools to facilitate access and understanding of complex datasets to non-expert users. Ultimately, the IGVF Consortium will produce tools, analyses, models, and data that form the catalog of variants and their functional impact. We will develop the DACC into a substantial service organization allowing scientific research to take full advantage of the IGVF reference catalog or map. To support the IGVF Consortium, we will establish databases with an application framework to facilitate complex data loading. We will include detailed experimental descriptions and metadata. We will define and develop pipelines that connect all Consortium members to the data and create avenues of access that distribute the data to the greater biological research community. We will establish metadata requirements, controlled vocabularies, standardized data formats, and quality control metrics for all IGVF data. We will bring together laboratories that generate complex data types via experimental assays with laboratories that integrate these data using computational tools to define the effects of genomic variation on genome function and how these effects shape phenotypes. By creating structures and data flow pipelines for the verification and validation of all data and providing processes for the documentation of metadata, the DACC will enhance the IGVF data production. The DACC will also coordinate integrative data analysis by creating and adapting analysis pipelines and developing advanced Genome Browser functions for the visual integration of IGVF data. Also, we will make the IGVF Web Portal that will be the primary entry point to the wealth of experimental data and computational analyses. The Portal will integrate these data resources and make them available via enhanced search and browsing capabilities. Finally, the DACC will provide documentation, training, and outreach via many media, including written documentation, video tutorials, online books, webinars, and meeting workshops and presentations.