De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

ABSTRACT:

Background

Congenital heart disease (CHD) affects ~ 1% of live births and is the most common birth defect. Although the genetic contribution to the CHD has been long suspected, it has only been well established recently. De novo variants are estimated to contribute to approximately 8% of sporadic CHD.

Methods

CHD is genetically heterogeneous, making pathway enrichment analysis an effective approach to explore and statistically validate CHD-associated genes. In this study, we performed novel gene and pathway enrichment analyses of high-impact de novo variants in the recently published whole-exome sequencing (WES) data generated from a cohort of CHD 2645 parent-offspring trios to identify new CHD-causing candidate genes and mutations. We performed rigorous variant- and gene-le

SUBMITTER: Sevim Bayrak C 

PROVIDER: S-EPMC6961332 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature