A genomic foundation model for interpreting human genetic diversity
Qinyi Xu, Zhikun Wu, Meijing Dong, Tianpeng Bao, Wenyan ng, Xuanzhao Huang, Hongxi Yang, Yao Zhou, 易显富, Shijie Zhang, Dandan Huang, Pak Chung Sham, Wenhao Zhou, Mulin Jun Li
The paper introduces hEVO, a genomic foundation model trained on human haplotype sequences, achieving top performance in variant interpretation and functional annotation across multiple benchmarks.
bioRxiv · Oct 21, 2026 · PreprintGenomics