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.

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](./study.cgi?study_id=phs000571) The Pediatric Cardiac Genetics Consortium (PCGC): whole exome sequences, targeted sequences, and SNP array data - [phs001843](./study.cgi?study_id=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](./study.cgi?study_id=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/](https://kidsfirstdrc.org/).

本研究为针对先天性心脏病（congenital heart defects, CHD）患者的多中心前瞻性观察队列研究。研究将收集10000名先证者（proband）、其父母及目标家庭的表型数据与原始DNA样本，旨在探究先天性心脏病患者的遗传因素与表型及临床结局之间的关联。

本PCGC队列被应用于以下dbGaP（基因型与表型数据库）子研究。若需查看这些子研究中收录的基因型、其他分子数据及衍生变量，请点击下方或本顶层研究页面phs001194 PCGC队列的「子研究」栏目中的对应条目：
- [phs000571](./study.cgi?study_id=phs000571) 儿科心脏遗传学联盟（Pediatric Cardiac Genetics Consortium, PCGC）：涵盖全外显子组测序数据、靶向测序数据及SNP阵列（Single Nucleotide Polymorphism array, SNP array）数据
- [phs001843](./study.cgi?study_id=phs001843) PCGC-CMG合作项目：全基因组测序数据

PCGC项目中隶属于Gabriella Miller Kids First儿科研究计划（Kids First）的子集（研究编号phs001194）现已通过独立的dbGaP研究编号[phs001138](./study.cgi?study_id=phs001138)开放访问。如需获取该数据集，请为phs001138提交数据访问申请（Data Access Request, DAR）。针对已通过phs001194审核的用户，该申请的审批流程将予以加速。若需了解其他Kids First数据集的相关信息，请访问[https://kidsfirstdrc.org/](https://kidsfirstdrc.org/)。