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Study Description

The Gabriella Miller Kids First Pediatric Research Program (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). Both, childhood cancers and structural birth defects are critical and costly conditions associated with substantial morbidity and mortality. Elucidating the underlying genetic etiology of these diseases has the potential to profoundly improve preventative measures, diagnostics, and therapeutic interventions.

Clinical and genetic sequence data obtained through Kids First funding is available through dbGaP and will be accessible through the Kids First Data Resource. The Kids First Data Resource, being developed during fiscal year 2017, will catalog and curate genomic and phenotypic data from a wide range of childhood cancers and structural birth defects conditions and serve as a central portal where data and analysis tools will be readily accessible to promote comprehensive and cross-cutting research and collaboration.

For the current study, probands with congenital diaphragmatic hernia/defects and both biological parents enrolled as part of the DHREAMS study.

  • Study Weblinks: DHREAMS; Kids First
  • Study Type: Parent-Offspring Trios
  • Number of study subjects that have individual level data available through Authorized Access: 594

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Probands with congenital diaphragmatic hernia/defects and both biological parents enrolled as part of the DHREAMS study.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina HiSeq X N/A N/A
Study History

All participants were enrolled through the DHREAMS study.

Selected publications
Diseases/Traits Related to Study (MESH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution