Article
Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals.
eLife - 27 Jan 2020
Wesolowska-Andersen Agata, Zhuo Yu Grace, Nylander Vibe, Abaitua Fernando, Thurner Matthias, Torres Jason M, Mahajan Anubha, Gloyn Anna L, McCarthy Mark I
Abstract excerpt
Genome-wide association analyses have uncovered multiple genomic regions associated with T2D, but identification of the causal variants at these remains a challenge. There is growing interest in the potential of deep learning models - which predict epigenome features from DNA sequence - to support inference concerning the regulatory effects of disease-associated variants. Here, we evaluate the advantages of...
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