Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes
Jodi Lee, Jingshing Wu, Maureen Pittman, Zoe L. Grant, Shuzhen Kuang, Daniel Quiat, Sarah U. Morton, Geoffrey Fudenberg, Michela Traglia, Kelly Hayes, Ritu Kumar, Benoit G. Bruneau, Katherine S. Pollard
The paper develops a machine-learning model to predict how structural variants disrupt 3D chromatin structure in congenital heart disease and validates its predictions using induced pluripotent stem cells.
bioRxiv · Mar 2, 2026 · PreprintGenomics