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CREP: Cis-Regulatory Element Predictor Based on Fine-Tuned Enformer

A substantial fraction of disease-associated genetic variants reside in non-coding regions of the genome, where they act by perturbing cis-regulatory elements (CREs) such as enhancers, promoters, and insulators. While recent sequence-based deep learning models, such as Enformer, accurately predict continuous epigenomic signals from DNA sequence, they do not directly provide discrete and interpretable CRE annotations. Here, we present CREP (Cis-Regulatory Element Predictor), a fine-tuned...

bioRxiv 3d ago