Genomic Engineering of Gene Dosage: A Generalizable Framework for Modeling Haploinsufficiency-Mediated Human Disorders through Splicing Modulation
Eric D. Smith, Joshua K. Meisner, Abbey Bullard, Connor Ward, Jennasea Licata, Cathy Smith, Colleen M. Kelly, Zachary T LaRochelle, Sabrina Friedline, Aaron Renberg, Riley Yucius, Jesse Lange, Elizabeth D. Hughes, Thomas L. Saunders, Zachary Thomas Freeman, , Adam S. Helms
This paper introduces a framework to model haploinsufficiency-mediated human disorders by modulating gene dosage through splicing, demonstrating its application in creating accurate animal models for cardiomyopathies.
bioRxiv · Sep 22, 2026 · PreprintGenetics