Scalable saturation mutagenesis reveals gene regulatory architecture and rare variant effects
Han Yuan, Xingfan Huang, Benjamin Auerbach, Johannes Linder, Divyanshi Srivastava, David R. Kelley
The paper introduces Multi-ISM, a scalable framework for saturation mutagenesis that reduces computational cost while maintaining accuracy, and applies it to 5,000 genes to map regulatory elements and rare variant effects.
bioRxiv · Oct 1, 2026 · PreprintGenomics