Epigenomic and Transcriptomic Dynamics During Human Heart Organogenesis

Originally published 9 Aug 2020 | Circulation Research

Circresaha 120 316704 fig09



There is growing evidence that common variants and rare sequence alterations in regulatory sequences can result in birth defects or predisposition to disease. Congenital heart defects are the most common birth defect and have a clear genetic component, yet only a third of cases can be attributed to structural variation in the genome or a mutation in a gene. The remaining unknown cases could be caused by alterations in regulatory sequences.


Identify regulatory sequences and gene expression networks that are active during organogenesis of the human heart. Determine whether these sites and networks are enriched for disease-relevant genes and associated genetic variation.

The full text of this article can be found at: https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.120.316704