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- Study Description
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). 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 crosscutting research and collaboration.
Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 300 probands and their parents, and family of interest collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.
- Authorized Access
- Publicly Available Data (Public ftp)
- Study Inclusion/Exclusion Criteria
- Age 0 - 99 years of age
- Males and females
- No ethnic or race restrictions
- Sporadic and familial cases are included
- Pregnant women who have a fetus with diagnosed CHD
- Isolated patent foramen ovale
- Isolated prematurity-associated patent ductus arteriosus
- Lack of consent
- Molecular Data
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)
- Primary Phenotype: Heart Defects, Congenital
- Authorized Data Access Requests
- Study Attribution