Multiplexed Quantification of Variant Abundance in the Globin Gene Family: Integrating Saturation Mutagenesis with Cross-Paralog Prediction
Xiaoli Cai, Daoyi Wang, Jiameng Hu, Yumei Huang, Wanrong Guo, Yu Shi, Yitong Zhou, Chuyao Xiao, Yuhua Ye, Chao Wang, Wenhao Zhou, Xiangmin Xu, Xiaoyan Jia
The paper presents a hybrid experimental and computational framework to quantify variant abundance in globin genes, using saturation mutagenesis and deep learning for cross-paralog prediction.
bioRxiv · Aug 24, 2026 · PreprintGenetics