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Study Description

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.

Authorized Access
Publicly Available Data (Public ftp)

Note: Access to publicly available data is available on the public ftp site for study phs001194.v2.p2.

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
Whole Exome Sequencing Roche NimbleGen SeqCap EZ MedExome Kit N/A N/A
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)
Links to Related Resources
Authorized Data Access Requests
Study Attribution