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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource). All of the genomic and phenotypic data from this study are accessible through dbGaP. The data is also available at the Kids First Portal, where other Kids First datasets can also be accessed in the cloud for data analysis, data visualization, collaboration and interoperability, open to all researchers and developers.
Birth defects and childhood cancer share biological pathways that are important for cell growth and division. We propose that sequencing pediatric patients suffering both conditions will allow us to discover the underlying genes and in turn advance our understanding of the causes of these devastating diseases.
- Study Weblinks:
- Study Design:
- Family/Twin/Trios
- Study Type:
- Cohort
- Parent-Offspring Trios
- Total number of consented subjects: 1805
- Subject Sample Telemetry Report (SSTR)
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- Publicly Available Data (Public ftp)
- Study Inclusion/Exclusion Criteria
1806 samples were selected for whole genome sequencing as part of the Gabriella Miller Kids First project, including 1464 cases and 342 parents. All samples were recruited into the Center for Applied Genomics (CAG) biobank from patient visits to the Children's Hospital of Philadelphia (CHOP). We selected all cases that been diagnosed with a childhood onset cancer as well as a congenital anomaly.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Genome Sequencing Illumina HiSeq X Ten N/A N/A - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Neoplasms
- Congenital Abnormalities
- Links to Related Resources
- Authorized Data Access Requests
- Study Attribution
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Principal Investigators
- Hakon Hakonarson, MD, PhD. Children's Hospital of Philadelphia, Philadelphia, PA, USA.
- Patrick Sleiman, PhD. Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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Funding Source
- X01 HL140544-01. National Institutes of Health, Bethesda, MD, USA.
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Principal Investigators