Ze-Hua Zheng

Decoding super-enhancer regulatory grammar and pathogenic gain-of-function variants directly from DNA sequence

Super-enhancers (SEs) drive cell-identity gene expression, yet their identification relies on epigenomic profiling (e.g., H3K27ac ChIP-seq), precluding discovery in unprofiled cellular states and leaving their underlying sequence grammar unknown. Here, we present Borzoi-SE, a deep learning framework built upon the geno...