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

通过在儿童发育和癌症交叉领域的合作进行创新：Gabriella Miller Kids First 儿科数据资源中心的平台

• 批准号: 10213817
• 负责人: Adam Cain Resnick
• 金额: $ 117.18万
• 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: 2017-06-25 至 2022-09-14
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10213817
• 关键词: Adult; Architecture; Biological; Biostatistical Methods; Childhood; Collaborations; Collection; Communities; Complex; Congenital Abnormality; Control Groups; Data; Data Analyses; Data Scientist; Data Set; Detection; Development; Discipline; Disease; Ecosystem; Elements; Environment; Etiology; Family member; Frequencies; Genes; Genetic; Genotype; Growth; Homeostasis; Internet; Knowledge; Learning; Libraries; Malignant Childhood Neoplasm; Malignant Neoplasms; Minor; Mutation; Online Systems; Pathway interactions; Patients; Pattern; Phenotype; Reproducibility; Research; Research Personnel; Resources; Risk; Scheme; Series; Services; Site; Software Engineering; Structural Congenital Anomalies; Support Groups; Syndrome; System; Variant; advanced analytics; base; cBioPortal; cancer genome; cancer genomics; cancer risk; computational pipelines; data mining; data portal; data resource; design; genome browser; genomic data; genomic profiles; genomic variation; improved; innovation; insight; knowledge base; multiple datasets; online resource; pediatric patients; personalized medicine; phenotypic data; research study; skills; software infrastructure; tool; tumor; web site; web-based tool

Data Portal Summary & Abstract While there is already a healthy web-based research ecosystem for cancer genomics data including the OICR team's own ICGC portal, cBioPortal, the UCSC Cancer Genome Browser, and MyCancerGenome there is no comprehensive portal for pediatric cancers, which are distinct in etiology and genomic profile from adult cancers. More seriously, there are scant web-or application-based tools to assist researchers investigating the causes and consequences of structural birth defects (or germline diseases in general), and no online resources whatsoever that combine the phenotypic and genotypic information for these two classes of pediatric disease. This is despite abundant evidence that structural birth defects and pediatric cancers share common etiologies and biological pathways: both involve genomic variations in genes involved in development and homeostasis, both are driven upward in risk by rare germline variants, and many structural birth defect syndromes, including such relatively common syndromes as Down, Klinefelter, Wiskott-Aldrich, Noonan, and Perlman, are associated with elevated cancer risk. This project will bring together the pediatric cancer and structural birth defect research communities, providing a unique opportunity to leverage the information gathered by one community to acquire insights in the other, and to recognize and promote collaborations among the two disciplines. As the project's chief outward-facing tool, the data resource portal will serve the needs of four groups of users: (1) biomedical researchers, who require deep access to the Kids First data sets and the ability to perform broad integrative queries and analytics across multiple data sets; (2) clinicians, who require concise summaries of the state of knowledge of pediatric cancers and congenital birth defects; (3) data scientists, who will build analytic pipelines, knowledge bases and other tools and services on top of the portal; and (4) patients and their family members, who will look to Kids First as a community resource for learning about their disease, and for finding support groups and other disease-related resources. The portal will bring together this heterogeneous user base to participate in a fertile ecosystem for research, study and collaboration built on top of an unprecedented collection of genetic and phenotypic data from pediatric patients. This will catalyze the advancement of personalized medicine for the detection, therapy and management of childhood cancer and birth defects.

数据门户摘要和摘要 虽然已经有一个健康的基于网络的癌症基因组学数据研究生态系统，包括 OICR 团队自己的 ICGC 门户、cBioPortal、UCSC 癌症基因组浏览器和 MyCancerGenome 没有 儿科癌症的综合门户，其病因学和基因组谱与成人不同 癌症。更严重的是，很少有基于网络或应用程序的工具来帮助研究人员调查 结构性出生缺陷（或一般生殖系疾病）的原因和后果，并且没有在线 结合这两类儿科的表型和基因型信息的任何资源 疾病。尽管有大量证据表明结构性出生缺陷和儿童癌症有共同点 病因学和生物学途径：两者都涉及参与发育和发育的基因的基因组变异。 体内平衡，罕见的种系变异和许多结构性出生缺陷都会导致两者的风险上升 综合症，包括相对常见的综合症，如唐氏综合症、克兰费尔特综合症、威斯科特-奥尔德里奇综合症、努南综合症和 Perlman 与癌症风险升高有关。该项目将汇集儿科癌症和 结构性出生缺陷研究社区，提供利用信息的独特机会 由一个社区收集，以获取另一个社区的见解，并认可和促进合作 两个学科之间。数据资源门户作为项目主要的对外工具，将服务于 四类用户的需求：（1）生物医学研究人员，需要深入访问 Kids First 数据集 以及跨多个数据集执行广泛的综合查询和分析的能力； (2) 临床医生， 需要对儿科癌症和先天性出生缺陷的知识状况进行简明总结； (3)数据 科学家，他们将在门户之上构建分析管道、知识库以及其他工具和服务； (4) 患者及其家人，他们将把“儿童优先”视为社区学习资源 了解他们的疾病，并寻找支持小组和其他与疾病相关的资源。门户网站将带来 将这个异构的用户群聚集在一起，参与一个肥沃的生态系统，用于研究、学习和 此次合作建立在前所未有地收集儿科患者遗传和表型数据的基础上。 这将促进个性化医疗的进步，用于检测、治疗和管理 儿童癌症和出生缺陷。