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

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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.