Jump to: Authorized Access | Attribution | Authorized Requests

Substudies
phs000571.v4.p2 : Pediatric Cardiac Genetics Consortium (PCGC)
phs001138.v1.p2 : GMKF: Kids First Pediatric Research Program in Congenital Heart Disease

Study Description

Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 10,000 probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.

Molecular data of the PCGC cohort study are available through two substudies:

  • phs000571 The Pediatric Cardiac Genetics Consortium (PCGC)

  • phs001138 The Gabriella Miller Kids First Pediatric Research Program - PCGC

    • Authorized Access
    Publicly Available Data
    Study Inclusion/Exclusion Criteria
    Inclusion criteria:
    • Prenatal - 109 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 Exome Sequencing Illumina HiSeq 2000 N/A N/A
    Whole Exome Sequencing IDT Integrated DNA Technologies xGen Exome Research Panel v1.0 N/A N/A
    Whole Exome Sequencing Roche NimbleGen SeqCap EZ Accessory Kit V2 N/A N/A NimbleGen
    Whole Exome Sequencing Roche NimbleGen SeqCap EZ MedExome Kit N/A N/A NimbleGen
    Targeted Sequencing Agilent SureSelect Targeted Enrichment N/A N/A Targeted for: ASDv1, CGLv1, CGLv2, CGLv4, CGLv5, CHDv5, CHDv6, ROBO2v1, xtv1, xtv2
    Whole Genome Genotyping Illumina HumanOmni1-Quad BeadChip N/A N/A
    Whole Genome Genotyping Illumina HumanOmni2.5-8v1_B N/A N/A
    Whole Genome Genotyping Illumina HumanOmni2.5-8 (Omni2.5) 2379855 N/A
    Study History

    November 2010: First study visit

    November 2011: First annual follow-up visit for probands =< 1 yr

    July 2013: dbGaP data release of 1,955 subjects

    September 2014: dbGaP addendum: additional 1,325 subjects

    January 2016: dbGap addendum: additional 2,985 subjects

    September 2016: dbGaP addendum: additional 3,186 subjects

    Selected Publications
    Diseases/Traits Related to Study (MeSH terms)
    Authorized Data Access Requests
    Study Attribution
    • Funding Sources
      • UM1 HL098162 09. The National Heart Lung and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
      • UM1 HL098123 09. The National Heart Lung and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
      • U01 HL131003 02. The National Heart Lung and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
      • UM1 HL098147 09. The National Heart Lung and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
      • UM1 HL098166 09. The National Heart Lung and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
      • UM1 HL128711 03. The National Heart Lung and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
      • UM1 HL128761 03. The National Heart Lung and Blood Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.