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Poster
in
Workshop: Learning Meaningful Representations of Life

EpiAttend: A transformer model of gene regulation combining single cell epigenomes with DNA sequence

Eran A Mukamel · Russell Li


Abstract:

Understanding cell type specific gene expression regulation requires models that integrate information across long genomic distances, such as enhancer-gene interactions spanning many tens of kilobases. Neural network models using deep convolutions and self-attention have achieved highly accurate prediction of cell type specific gene expression and other functional genomics measurements based on DNA sequence in local windows\citep{avsec,basenji2}. By contrast, leading models for linking enhancers with target genes take advantage of cell type specific epigenomes\citep{abc}. Here, we propose a framework for combining DNA sequence with epigenetic data from single cell sequencing within a neural network to predict cell type specific functional readouts such as mRNA expression. This approach has the potential to identify long-range gene-regulatory interactions, linking enhancers with genes based on both the epigenome and DNA sequence binding motifs.

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