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

华盛顿大学-西北大学基因组变异和功能数据及行政协调中心

• 批准号: 10297564
• 负责人: Ting Wang
• 金额: $ 101.06万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-08-24 至 2026-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10297564
• 关键词: Adopted; Adoption; Affect; Bioinformatics; Biological Assay; Biology; Books; Catalogs; Cells; Communication; Communities; Community Outreach; Complex; Computer Analysis; Controlled Vocabulary; Data; Data Analyses; Data Collection; Data Set; Databases; Development; Disease; Documentation; Education and Outreach; Educational Materials; Educational workshop; Ensure; Environment; Feedback; Gene Expression; Genes; Genome; Genomics; Goals; Housing; Human; Laboratories; Lead; Learning; Logistics; Maps; Metadata; Methods; Modeling; Mus; Participant; Pathway Analysis; Periodicity; Phenotype; Population; Process; Production; Progress Reports; Protocols documentation; Provider; Public Health; Quality Control; Reporting; Research; Resources; Series; Shapes; Specific qualifier value; Speed; Structure; System; Technology; Testing; Time; Training; Update; Variant; Vision; Visualization; Work; analysis pipeline; biological research; clinically significant; complex data; computerized tools; data analysis pipeline; data format; data mining; data portal; data resource; data standards; data tools; data visualization; distributed data; epigenome; experience; genome browser; genomic data; genomic variation; human pangenome; improved; large datasets; meetings; member; metadata standards; novel; operation; outreach; outreach program; programs; service organization; symposium; tool; user-friendly; verification and validation; web portal; webinar; working group

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.

项目摘要 华盛顿-西北基因组变异和功能数据和管理的目标 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将协助开发 以及传播整个社区将采用的元数据和标准， 分析广泛的数据类型，以及可视化和分析工具，以方便访问和理解 复杂的数据集给非专家用户。最终，IGVF联盟将产生工具，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 这是一个服务组织，允许科学研究充分利用IGVF参考目录或地图。到 支持IGVF联盟，我们将建立具有应用程序框架的数据库，以促进复杂的 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 更大的生物学研究社区。我们将建立元数据需求、受控词汇表， 标准化的数据格式和所有IGVF数据的质量控制指标。我们将召集实验室， 通过实验分析生成复杂的数据类型，实验室使用 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 表型通过创建用于验证和确认所有数据的结构和数据流管道， 通过提供元数据文件编制流程，DACC将加强IGVF数据的制作。的 DACC还将通过创建和调整分析管道以及开发 先进的基因组浏览器功能，用于IGVF数据的可视化集成。此外，我们将使IGVF网络 门户网站，这将是主要的入口点，以丰富的实验数据和计算分析。的 门户网站将整合这些数据资源，并通过增强的搜索和浏览功能提供这些资源 能力的最后，DACC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。