Project name: Genetic etiologies of CHD

Description: Congenital heart disease (CHD) is the most common congenital malformation in fetuses and neonates and a leading cause of mortality. Although significant progress has been made by emerging advanced technologies in genetic etiology diagnosis, the causative genetic mechanisms behind CHD remain poorly understood and more than half of CHD patients lack a genetic diagnosis. In order to improve our understanding of the genetic etiological diagnosis rate and pathogenic mechanism of CHD, this project will recruit sporadic CHD patients and perform low-coverage WGS (whole genome sequencing) and WES (whole exome sequencing) simultaneously sequencing strategy. Genetic diagnostic yield, rare disease causal variants, novel disease causal genes, and functional Verification of new discoveries will be studied in this research.

Data type: Raw sequence reads

Sample scope: Multiisolate

Relevance: Medical

Release date: 2022-06-16

Last updated: 2022-06-16

Data size: 1.8TB