Utilizing FHIR to expand the availability of interoperable clinical and phenotypic data to the pediatric research community

利用 FHIR 扩大儿科研究界可互操作的临床和表型数据的可用性

• 批准号: 10876146
• 负责人: Allison Heath
• 金额: $ 66.64万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-26 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10876146
• 关键词: Adopted; Child; Childhood; Clinical; Clinical Data; Communities; Congenital Abnormality; Custom; Data; Data Element; Data Management Resources; Disease; Fast Healthcare Interoperability Resources; Foundations; Healthcare; Malignant Childhood Neoplasm; Manuals; Participant; Pediatric Research; Phenotype; Process; Production; Quality Control; Reproducibility; Research; Research Personnel; Sampling; Services; Standardization; Structural Congenital Anomalies; Structure; System; Time; Update; cloud storage; data quality; data resource; exome; experience; flexibility; genome resource; genome sequencing; genomic data; health care settings; improved; insight; interoperability; meetings; phenotypic data; programs; tool; transcriptome sequencing; treatment and outcome; tumor; whole genome

Project Summary The Gabriella Miller Kids First Data Resource Center (KFDRC) currently provides genomic data on over 25,000 participants to the research community with over 20,000 in processing slated to be released. Paired with this genomic data is clinical and phenotypic data that is provided by a wide variety of studies across structural birth defects and childhood cancer. To accommodate the breadth of clinical and phenotypic data and the mandate for interoperability, the KFDRC has set up FHIR services as the primary API for this data. The Kids First portal is able to use the standardized representation in FHIR to make the data searchable and available to the broader community. FHIR additionally enables other applications or developers to more easily integrate Kids First data. As part of the onboarding to FHIR, KFDRC leverages Dewrangle, an open access application, to help manage and facilitate data release via FHIR. With this new setup, we will review the existing Kids First studies and expand the clinical and phenotypic variables available to the Kids First DRC community via FHIR. To make this process more sustainable and scalable we will implement new Dewrangle capabilities to streamline data release and management and improve reproducibility for the expanded Kids First FHIR data elements.

项目摘要 Gabriella Miller Kids First Data Resource Center（KFDRC）目前提供了超过25,000的基因组数据 研究社区的参与者将超过20,000个处理，定于释放。与此配对 基因组数据是临床和表型数据，由结构出生的各种研究提供 缺陷和儿童癌。为了适应临床和表型数据的广度以及 互操作性，KFDRC已将FHIR服务设置为该数据的主要API。孩子们的第一个门户是 能够使用FHIR中的标准化表示来使数据可搜索并可以更广泛地使用 社区。 FHIR还可以使其他应用程序或开发人员更轻松地整合孩子的第一个数据。 作为FHIR入门的一部分 并通过FHIR促进数据释放。有了这个新的设置，我们将审查现有的儿童第一研究并扩展 通过FHIR，儿童First DRC社区可用的临床和表型变量。为了做这个过程 更可持续和扩展 管理和提高扩展儿童的可重复性第一fhir数据元素。