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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).

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.

This Kids First project represents a subset of the PCGC data. Other PCGC data can be accessed through phs001194 and other Kids First data can be accessed through kidsfirstdrc.org.

  • Study Weblinks:
  • Study Design:
    • Family/Twin/Trios
  • Study Type:
    • Parent-Offspring Trios
    • Cohort
  • Number of study subjects that have individual-level data available through Authorized Access:
Authorized Access
Publicly Available Data (Public ftp)

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

Study Inclusion/Exclusion Criteria

Inclusion 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

Exclusion criteria:

  • Isolated patent foramen ovale
  • Isolated prematurity-associated patent ductus arteriosus
  • Lack of consent

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina HiSeq X Ten N/A N/A Baylor College of Medicine; Broad Institute
Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
See research articles citing use of the data from this study
Study Attribution
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