Modeling gene regulatory perturbations via deep learning from high-throughput reporter assays
Revathy Venukuttan, R Doty, Alexander Thomson, Yutian Chen, Boyao Li, Yuncheng Duan, Alejandro Barrera, Katherine Dura, Kuei-Yueh Ko, Hilmar Lapp, Timothy E. Reddy, Andrew S. Allen, William H. Majoros
The paper introduces BlueSTARR, a predictive modeling framework trained on whole-genome STARR-seq data to assess variant effects on regulatory functions, revealing purifying selection against loss-of-function and gain-of-function variants.
bioRxiv · Mar 31, 2026 · PreprintBioinformatics