PCGC: Congenital Heart Disease Genetic Network Study

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](./study.cgi?study_id=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](./study.cgi?study_id=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.

本亚研究phs000571（PCGC）包含全外显子组测序数据、靶向测序数据以及SNP芯片（SNP array）数据。该PCGC队列研究参与者的汇总表型数据可在顶级研究页面[phs001194](./study.cgi?study_id=phs001194)（PCGC队列）查看。所有PCGC顶级研究及亚研究的个体水平表型数据与分子数据，需通过申请PCGC队列研究[phs001194](./study.cgi?study_id=phs001194)的授权访问方可获取。

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。研究团队将收集来自10000名先证者、父母及目标家庭的表型数据与原始DNA样本，以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。