Project 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" box located on the right hand side of this top-level study page phs001194 PCGC Cohort. <ul> <li><a href="./study.cgi?study_id=phs000571">phs000571</a> The Pediatric Cardiac Genetics Consortium (PCGC)</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="./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/" target="_blank">https://kidsfirstdrc.org/</a>.

| phs001194 | dbGaP

Homo sapiens

Project description:Pediatric Cardiac Genomics Consortium (PCGC) Study

| PRJNA339493 | ENA

Pediatric Preclinical Testing Consortium (PPTC)

Project description:Pediatric Preclinical Testing Consortium (PPTC)

| PRJNA400657 | ENA

Integration of Protein Interactome Data with Congenital Heart Disease Variants Reveals Disease Genes

Project description:Congenital Heart Disease (CHD) accounts for 1% of birth defects, and while large-scale genetic studies have uncovered genes associated with CHDs, identifying causal mutations remains a challenge. We hypothesized that genetic determinants for CHDs could be found in the protein interactomes of GATA4 and TBX5, two cardiac transcription factors (TFs) associated with CHDs. Defining their interactomes in human cardiac progenitors via affinity purification-mass spectrometry and integrating the results with genetic data from the Pediatric Cardiac Genomic Consortium (PCGC) revealed an enrichment of de novo variants among proteins that interact with GATA4 or TBX5. A consolidative score designed to prioritize TF interactome members based on distinctive variant, gene and proband features identified numerous likely CHD-causing genes, including the epigenetic reader GLYR1. GLYR1 and GATA4 widely co-occupied cardiac developmental genes resulting in co-activation and the GLYR1 variant associated with CHD disrupted interaction with GATA4. This integrative proteomic and genetic approach provides a framework for prioritizing and interrogating the contribution of genetic variants in CHD and can be extended to other genetic diseases.

2022-07-05 | PXD022091 | Pride

PCGC: Congenital Heart Disease Genetic Network Study

Project description:PCGC: Congenital Heart Disease Genetic Network Study

| PRJNA183421 | ENA

Genomics and epigenetics: A study of ependymomas in pediatric patients

Project description:To the methylation pattern in pediatric ependymomas by methylation were performed through the Agilent platform.

2016-03-15 | E-MTAB-3846 | biostudies-arrayexpress

Genomics and epigenetics: A study of ependymomas in pediatric patients

Project description:This worck identify gene expression changes in pediatric ependymomas by microarray gene expression were performed through the Agilent platform.

2016-03-15 | E-MTAB-3845 | biostudies-arrayexpress

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