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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
    • Study Weblink: From Bench to Bassinet: CHD Genes
    • Study Types: Parent-Offspring Trios, Cohort
    • Number of study subjects that have individual level data available through Authorized Access: 9463

    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
    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 Sequencing SeqCap EZ Accessory Kit V2 N/A N/A NimbleGen
    Whole Exome Sequencing Roche Sequencing 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
    Whole Genome Sequencing Illumina HiSeq X Ten N/A N/A See Substudy phs001138 GMKF - https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001138.v1.p2
    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)
    Links to Related Resources
    Authorized Data Access Requests
    Study Attribution