Innovation through collaboration at the intersection of childhood development and cancer: a platform for the Gabriella Miller Kids First Pediatric Data Resource Center

项目摘要：数据协调中心 加布里埃拉·米勒儿童首个儿科数据资源中心数据协调中心(DCC) (KFDRC)的任务是分析和协调整个基因组序列和相关的RICH 癌症和结构性出生缺陷队列的表型数据。DCC团队由以下主题组成 儿科疾病、表型协调、大规模数据协调、软件方面的专家 高性能计算的开发、基因组分析、管理和供应商 资源。因为大约6,000个基因组和表型样本将在开始时准备好进行分析 对于该项目，DCC的处理和注释过程将需要仔细定义但快速的响应 开始数据分析。由于数据是由多个站点生成和提交的，DCC将发挥关键作用 在执行协调和确保数据质量方面的作用。使和声快速站立起来 和分析平台，DCC将建立一套初步的流程和最佳做法，这些流程和最佳做法将 通过利用或扩展现有数据共享空间中使用的协议来实现。作为BEST的发展 实践是一个迭代的过程，为了确保根据需要轻松采用最佳实践更改，DCC 将与数据门户团队密切合作，采用数据和配置驱动的流程开发 原则。在这种迭代方式下，DCC将能够不断改进工作流程、分析和 任务流程，向KFDRC数据门户提供高效的高质量数据流，以便发布给 科学界。在刚果民主力量发展的所有阶段，刚果民主共和国协调委员会将坚定地致力于 确保其所有系统都能使数据公平) 作为NIH公共资源的一部分进行互操作。DCC团队将与顾问和其他团队在 KFDRC项目，提供透明、可重复使用的分析/工作流程、数据词典和最佳做法，以 儿科研究界。 可查找、可访问、可互操作和可重复使用(

Project Summary: Data Coordination Center The Data Coordination Center (DCC) for the Gabriella Miller Kids First Pediatric Data Resource Center (KFDRC) is tasked with analysis and harmonization of whole genome sequences and associated rich phenotypic data across cancer and structural birth defect cohorts. The DCC team is comprised of subject matter experts in pediatric disease, phenotypic harmonization, large-scale data coordination, software development, genomic analyses, and management and providers of high-performance computational resources. As approximately 6,000 genomic and phenotypic samples will be ready for analysis at the inception of the project, the DCC's processing and annotation process will require a carefully defined but rapid response to begin data analysis. As the data is being generated and submitted by multiple sites, the DCC will play a key role in performing harmonization and ensuring data quality. To enable a quick standup of the harmonization and analytical platforms, the DCC will establish an initial set of processes and best practices that will be implemented by utilizing or expanding protocols used at existing Data Commons. As development of best practices is an iterative process, and to ensure easy adoption of best practice changes as needed, the DCC will work closely with the Data Portal team to employ data- and configuration-driven process development principles. In this iterative fashion, the DCC will be able to continuously improve on workflow, analytics and task processes to provide an efficient flow of high quality data to the KFDRC Data Portal for release to the scientific community. During all phases of the KFDRC development, the DCC will have a deep commitment to making sure all its systems enable data to be FAIR) for interoperating as part of the NIH Commons. The DCC team will work with advisors and other teams in the KFDRC project to deliver transparent, reproducible analytics/workflows, data dictionaries and best practices to the pediatric research community. findable, accessible, interoperable and reusable (