Heart Defects, Congenital study on BDC (21,963 participants)

phs001194 — National Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet    Program: The Pediatric Cardiac Genetics Consortium (PCGC) Study

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. Phenotype data will be stored at dbGaP, while molecular and sequence data will be stored at BioData Catalyst. The PCGC Cohort is utilized in the following dbGaP substudies. Please click on the following substudies below or in the "Substudies" section of this top-level study page phs001194 PCGC Cohort. <ul> <li><a href="https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000571">phs000571</a> PCGC: whole exome sequences, whole genome sequences, targeted sequences, MIP sequences, and SNP array data</li> <li><a href="https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001843">phs001843</a> PCGC-CMG Collaboration: whole genome sequences</li> </ul> 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: <a href="https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001138">phs001138</a>. 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 <a href="https://kidsfirstdrc.org/">https://kidsfirstdrc.org/</a>.NHLBI's TOPMed program has provided additional Whole Genome Sequencing for PCGC participants - that data is accessible through a separate dbGaP sudy accession: <a href="http://https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001735">phs001735</a>. Access to this data set should be requested through a Data Access Request (DAR) for phs001735.