Enhancer Poising Enables Pathogenic Gene Activation by Noncoding Variants
Ethan W. Hollingsworth, Zhuoxin Chen, Cindy X. Chen, Sandra H. Jacinto, Taryn Audrey Liu, Evgeny Z. Kvon
The paper shows that poised enhancers are susceptible to non-coding variants causing gene activation and disease, using the ZRS and autism-associated variants as examples.
bioRxiv · Jun 20, 2025 · PreprintGenomics