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

数据门户摘要(&A) 虽然已经有一个健康的基于网络的癌症基因组数据研究生态系统，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 儿童癌症的综合门户，其病因和基因组特征与成人截然不同 癌症。更严重的是，几乎没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(或生殖系疾病)的原因和后果，没有在线 结合这两类儿科疾病的表型和基因信息的任何资源 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之处，但仍是如此。 病因学和生物学途径：两者都涉及参与发育和 动态平衡，两者都被罕见的生殖系变异和许多结构性出生缺陷推高了风险 综合征，包括相对常见的唐氏综合征、克莱菲尔特综合征、Wiskott-Aldrich综合征、Noonan综合征和 Perlman，与癌症风险增加有关。这个项目将把儿科癌症和 结构性出生缺陷研究社区，提供了利用信息的独特机会 由一个社区收集，以获得对另一个社区的见解，并认可和促进合作 在这两个学科中。作为项目的主要对外工具，数据资源门户将为 四类用户的需求：(1)生物医学研究人员，他们需要深入访问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 要求提供有关儿童癌症和先天出生缺陷知识的简明摘要；(3)数据 科学家，他们将在门户网站上建立分析管道、知识库和其他工具和服务； 以及(4)患者及其家庭成员，他们将首先把儿童作为社区学习的资源 关于他们的疾病，以及寻找支持团体和其他与疾病有关的资源。传送门将会带来 将这一不同类型的用户群聚集在一起，参与一个肥沃的生态系统，进行研究、学习和 合作建立在前所未有的儿科患者遗传和表型数据收集的基础上。 这将促进用于检测、治疗和管理的个性化医学的进步 儿童癌症和出生缺陷。

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.