Decoding super-enhancer regulatory grammar and pathogenic gain-of-function variants directly from DNA sequence
Yan Liang, 徐小慧, Yiping Mao, Zehua Zheng, Nan Liu
This paper introduces Borzoi-SE, a deep learning framework that identifies super-enhancers and detects pathogenic variants directly from DNA sequence across multiple human cell lineages.
bioRxiv · Oct 14, 2026 · PreprintGenomics