Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.

ABSTRACT: Congenital heart defects (CHD) arise in part due to inherited genetic variants that alter genes and noncoding regulatory elements in the human genome. These variants are thought to act during fetal development to influence the formation of different heart structures. However, identifying the genes, pathways, and cell types that mediate these effects has been challenging due to the immense diversity of cell types involved in heart development as well as the superimposed complexities of interpreting noncoding sequences. As such, understanding the molecular functions of both noncoding and coding variants remains paramount to our fundamental understanding of cardiac development and CHD. Here, we created a gene regulation map of the healthy human fetal heart across developmental time, and appli

SUBMITTER: Ma XR 

PROVIDER: S-EPMC11601760 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature