An integrated framework for functional dissection of variable expressivity in genetic disorders
Jiawan Sun, Serena Noss, Deepro Banerjee, Venkata Hemanjani Bhavana, Corrine Smolen, Maitreya Das, Belinda M. Giardine, Anisha Prabhu, David J. Amor, Kate Pope, Paul J. Lockhart, Santhosh Girirajan
The paper develops a framework to study variable expressivity in genetic disorders using 16p12.1 deletion models, showing how genetic background and secondary variants influence gene expression and phenotypes.
medRxiv · Jul 22, 2025 · PreprintGenetic & Genomic Medicine