Gabriella Miller Kids First Pediatric Data Resource Center: Advancing Collaborative Platform-Enabled Data-Driven Discovery at the Intersection of Childhood Development and Cancer

Gabriella Miller Kids First 儿科数据资源中心：在儿童发展和癌症的交叉点推进协作平台支持的数据驱动发现

• 批准号: 10707964
• 负责人: Robert J Carroll
• 金额: $ 400万
• 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/10707964
• 关键词: Acceleration; Address; Advocate; Architecture; Authorization documentation; Biological; Birth; Certification; Child; Childhood; Clinical; Communities; Data; Data Commons; Data Science; Data Set; Development; Disease; Distributional Activity; Down Syndrome; Ensure; Environment; Etiology; FAIR principles; Fostering; Funding; Generations; Growth; Hand; Infrastructure; Institution; Investigation; Knowledge; Leadership; Link; Longevity; Malignant Childhood Neoplasm; Malignant Neoplasms; Mission; Modality; Outcome; Patients; Pediatric Research; Phase; Phenotype; Research; Research Personnel; Resources; Role; Services; Structural Congenital Anomalies; Testing; Time; Trust; United States National Institutes of Health; Update; Vision; Work; authority; base; clinical decision support; clinical translation; cloud based; cloud platform; cohort; data access; data ecosystem; data interoperability; data resource; data reuse; data sharing; empowerment; experience; innovation; interoperability; multidisciplinary; new technology; novel; operation; outreach; programs; software development; success; tool; translational impact

PROJECT SUMMARY Since its launch, the Gabriella Miller Kids First Data Resource Center (KFDRC) has constantly innovated and helped redefine the architecture, development and operations across all cores of work to optimize and provide opportunities for the research community to have impact in childhood cancer and structural birth defects. This has included collaborative partnerships across the NIH data commons landscape to ensure the FAIRness of Kids First data and enable rapid access of data in cloud-based platforms. In the next phase, the KFDRC will build on these innovations and successes to further empower sustained, scaled growth and impact. This will be a cross-coordinated effort across the Administrative and Outreach Core, the Data Coordinating Core and the Data Resource Core. The combined efforts of these cores will provide researchers the data, tools, and workspaces they need to further the mission of the Kids First program. The KFDRC will make significant contributions to accelerate community efforts not only to understand etiology and drivers of pediatric diseases, but also drive and enhance the interpretation and clinical decision support for better outcomes for children.

项目总结 自推出以来，加布里埃拉·米勒儿童第一数据资源中心(KFDRC)不断创新和 帮助重新定义所有工作核心的架构、开发和运营，以优化和提供 为研究界在儿童癌症和结构性出生缺陷方面产生影响的机会。这 已经包括了跨NIH数据共享领域的协作伙伴关系，以确保 儿童优先使用数据，并支持在基于云的平台中快速访问数据。在下一阶段，刚果民主力量将 在这些创新和成功的基础上，进一步推动持续、规模化的增长和影响。这将是 行政和外联核心、数据协调核心和 数据资源核心。这些核心的共同努力将为研究人员提供数据、工具和 他们需要的工作空间，以推动儿童优先计划的使命。刚果民主力量将做出重大贡献 对加快社区努力的贡献，不仅是为了了解儿科疾病的病因和驱动因素， 而且还推动和加强了解释和临床决策支持，为儿童提供更好的结果。

项目成果

Towards self-describing and FAIR bulk formats for biomedical data.

• DOI: 10.1371/journal.pcbi.1010944
• 发表时间: 2023-03
• 期刊: PLoS computational biology
• 影响因子: 4.3

Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis.

• DOI: 10.1038/s41467-022-31724-3
• 发表时间: 2022-08-04
• 期刊: Nature communications
• 影响因子: 16.6

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.

AutoGVP：集成了 ClinVar 和 InterVar 种系序列变异分类的 Docker 化工作流程。

• DOI: 10.1101/2023.11.29.569103
• 发表时间: 2023
• 期刊: bioRxiv : the preprint server for biology
• 作者: Kim,Jung;Naqvi,AmmarS;Corbett,RyanJ;Kaufman,RebeccaS;Vaksman,Zalman;Brown,MiguelA;Miller,DanielP;Phul,Saksham;Geng,Zhuangzhuang;Storm,PhillipB;Resnick,AdamC;Stewart,DouglasR;Rokita,JoLynne;Diskin,SharonJ
• 通讯作者: Diskin,SharonJ

The Biomedical Research Hub: a federated platform for patient research data.

生物医学研究中心：一个用于患者研究数据的联合平台。

• DOI: 10.1093/jamia/ocab247
• 发表时间: 2022-03-15
• 期刊: Journal of the American Medical Informatics Association : JAMIA
• 作者: Barnes C;Bajracharya B;Cannalte M;Gowani Z;Haley W;Kass-Hout T;Hernandez K;Ingram M;Juvvala HP;Kuffel G;Martinov P;Maxwell JM;McCann J;Malhotra A;Metoki-Shlubsky N;Meyer C;Paredes A;Qureshi J;Ritter X;Schumm P;Shao M;Sheth U;Simmons T;VanTol A;Zhang Z;Grossman RL
• 通讯作者: Grossman RL

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.

• DOI: 10.1016/j.xhgg.2022.100166
• 发表时间: 2023-01-12
• 期刊: HUMAN GENETICS AND GENOMICS ADVANCES
• 作者: Zieger, Hanna K.;Weinhold, Leonie;Schmidt, Axel;Holtgrewe, Manuel;Juranek, Stefan A.;Siewert, Anna;Scheer, Annika B.;Thieme, Frederic;Mangold, Elisabeth;Ishorst, Nina;Brand, Fabian U.;Welzenbach, Julia;Beule, Dieter;Paeschke, Katrin;Krawitz, Peter M.;Ludwig, Kerstin U.
• 通讯作者: Ludwig, Kerstin U.