Predicting the regulatory impacts of noncoding variants on gene expression through epigenomic integration across tissues and single-cell landscapes.

Abstract excerpt

Noncoding mutations play a critical role in regulating gene expression, yet predicting their effects across diverse tissues and cell types remains a challenge. Here we present EMO, a transformer-based model that integrates DNA sequence with chromatin accessibility data (assay for transposase-accessible chromatin with sequencing) to predict the regulatory impact of noncoding single nucleotide polymorphisms on gene...

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