NIH Cloud PlatformInteroperability Effort



Pediatric Cardiac Genomics Consortium (PCGC) Study

phs001194.v2.p2dbGapdbGap FHIR


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.

The PCGC Cohort is utilized in the following dbGaP substudies. To view genotypes, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the "Substudies" section of this top-level study page phs001194 PCGC Cohort. - phs000571 The Pediatric Cardiac Genetics Consortium (PCGC)

The Gabriella Miller Kids First Pediatric Research Program (Kids First) subset of the PCGC project (phs001194) is now accessible through a separate dbGaP study accession: phs001138. To access this dataset, please submit a Data Access Request (DAR) for phs001138. Approval of this DAR will be expedited for approved users of phs001194. To learn about other Kids First datasets visit


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

Applying For Access

dbGaP FAQdbGaP Access Request Video Tutorial