Data Coordination Core

项目总结 儿童第一数据协调核心(DCC)支持数据接收、管理和发布 提供给公众的最大的儿科基因组资源。目前包括40个项目、48,000个 基因组，23个公布了研究以及其他相关的可互操作的数据集。DCC负责 接收、协调、管理数据并将数据提供给年内的儿童首个数据资源核心(DRC) 无损、高实用的格式。这包括保留源数据和科学数据所需的元数据 在广泛的癌症和出生缺陷研究领域的发现。通过这次经历，我们有了 开发了Kids First“Data Tracker”应用程序，作为协作处理数据的关键工具 生成器、分析师、调查人员和NIH项目工作人员进行有效的数据协调。DCC将扩大 该应用基于临床数据获取、AWS S3存储管理、状态等使用案例 报告、工作流程自动化和DBGaP提交。DCC和之间的数据交换端点 DRC将是一项FHIR服务，并为其他可互操作的数据资源提供与KID集成的能力 第一个数据。我们将继续改进我们的基因组数据最佳实践，并扩大管道产品组合 可用于长读测序、表观基因组学和儿童优先所需的其他数据模式 社区。所有生物信息学管道的开发都将利用我们在社区建设方面的经验 使用通用工作流语言(CWL)和Docker的最佳实践工作流 被社区重复使用。同样，DCC将继续扩大和改进 通过构建与数据集成的基于标准的管理工具包来收集临床/表型数据 追踪器应用。随着Kids First变种的集合扩大到数百亿种变种的水平， DCC将通过构建易于使用的工作流来帮助支持社区，以进行变体过滤和整合 更广泛的注释，使研究人员能够更轻松地识别变种和临床数据 进一步的兴趣和调查。DCC将与Kid First Administration和 外展核心(AOC)提供技术用户支持、培训和其他文档，以支持使用 为Kids First开发的数据、管道和其他工具有助于增强和加快研究和 科学界的发现。

PROJECT SUMMARY The Kids First Data Coordinating Core (DCC) supports the data intake, management, and release for the largest pediatric genomic resource available to the public. This currently includes 40 projects, 48,000 genomes, and 23 released studies as well as other relevant interoperable datasets. The DCC is responsible for ingestion, harmonization, curation and provisioning data to the Kids First Data Resource Core (DRC) in lossless and high utility formats. This includes retaining source data and requisite metadata for scientific discovery across a wide range of cancer and birth defect research domains. Through this experience, we have developed the Kids First “Data Tracker” application as a key tool for collaboratively working with data generators, analysts, investigators and NIH program staff for effective data coordination. The DCC will expand the application based on the use cases around clinical data ingestion, AWS S3 storage management, status reporting, workflow automation and dbGaP submissions. The data exchange endpoint between the DCC and DRC will be a FHIR service and provide the ability for other interoperable data resources to integrate with Kids First data. We will continue to improve on our genomic data best practices and expand the portfolio of pipelines available for long-read sequencing, epigenomics and other data modalities as required for the Kids First community. All bioinformatics pipeline development will leverage our experience building community-based best practice workflows utilizing Common Workflow Language (CWL) and Docker so that they can be reproducibly used by the community. Similarly, the DCC will continue to expand and improve on the clinical/phenotypic data collection by building a standards-based curation toolkit that integrates with the Data Tracker application. As the collection of Kids First variants scales to the level of tens of billions of variants, the DCC will help support the community by building out easy to use workflows for variant filtering and incorporate more expansive annotation that will allow researchers to more easily identify variants and clinical data of further interest and investigation. The DCC will work hand in hand with the Kid First Administrative and Outreach Core (AOC) to provide technical user support, training and other documentation to support the use of the data, pipelines and other tools developed for Kids First to help empower and accelerate research and discovery in the scientific community.