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phs000571.v6.p2 : PCGC: Congenital Heart Disease Genetic Network Study
phs001843.v1.p2 : PCGC Study - CMG Collaboration

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.

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): whole exome sequences, targeted sequences, and SNP array data
  • phs001843 PCGC-CMG Collaboration: whole genome sequences

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 https://kidsfirstdrc.org/.

Authorized Access
Publicly Available Data (Public ftp)
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 Broad Institute
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
Whole Exome Sequencing Roche NimbleGen SeqCap EZ MedExome Kit N/A N/A
Targeted Genome Resequencing Agilent SureSelect Targeted Enrichment N/A N/A
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
Targeted Sequencing Illumina Molecular Inversion Probes (MIPs) N/A 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
December 2018: dbGaP addendum: additional 4,270 subjects

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Authorized Data Access Requests
Study Attribution