Genetic & Genomic MedicinemedRxivPreprint
An integrated framework for functional dissection of variable expressivity in genetic disorders
Jiawan Sun, Serena Noss, Deepro Banerjee…·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.