Data Coordination Core

项目摘要 儿童第一数据协调核心（DCC）支持 最大的儿科基因组资源提供给公众。目前包括40个项目，48，000个 基因组和23项已发布的研究以及其他相关的可互操作数据集。DCC负责 将数据摄取、协调、管理和配置到Kids First Data Resource Core（DRC）， 无损和高实用性格式。这包括保留源数据和必要的元数据， 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 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项目人员进行有效的数据协调。DCC将扩大 应用程序基于临床数据摄取、AWS S3存储管理、状态 报告、工作流自动化和dbGaP提交。DCC与 DRC将是一项FHIR服务，并为其他可互操作的数据资源提供与Kids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，并扩大管道组合 可用于长读序测序、表观基因组学和其他数据模式，如儿童优先计划所需 社区所有生物信息学管道开发将利用我们的经验， 使用通用工作流语言（CWL）和Docker的最佳实践工作流， 可重复使用的社区。同样，发展协调委员会将继续扩大和改善 通过构建基于标准的策展工具包（与数据集成）收集临床/表型数据 追踪器应用程序。随着Kids First变体的集合扩展到数百亿个变体的水平， DCC将通过构建易于使用的变体过滤工作流程来帮助支持社区，并将其纳入 更广泛的注释，使研究人员能够更容易地识别变异和临床数据， 更多的兴趣和研究。DCC将与儿童第一行政部门携手合作， 外联核心（AOC）提供技术用户支持、培训和其他文件，以支持使用 为儿童优先开发的数据、管道和其他工具，以帮助增强和加速研究， 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.