NIH Cloud Platform Interoperability Effort



PCGC: Congenital Heart Disease Genetic Network Study

phs000571.v6.p2dbGapdbGap FHIR


This substudy phs000571 PCGC contains whole exome sequences, targeted sequences, and SNP array data. Summary level phenotypes for the PCGC Cohort study participants can be viewed at the top-level study page phs001194 PCGC Cohort. Individual level phenotype data and molecular data for all PCGC top-level study and substudies are available by requesting Authorized Access to the PCGC Cohort study phs001194.

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.


Consent CodesHMB, DS-CHD
Focus / DiseasesHeart Defects, Congenital
Study DesignProspective Longitudinal Cohort
Data TypesAMPLICON, OTHER, WGS, RNA-Seq, WXS, SNP Genotypes (Array)

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