William JF Rieger on Muck Rack

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Comprehensive molecular impact mapping of common and rare variants at GWAS loci

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By Brad Balderson, Sanjana Tule, Mei-Lin Okino, William JF Rieger
| biorxiv.org
Abstract Deep learning sequence to function models can predict the molecular effects of genetic variants, but their predictions are limited to the cell types and assays they are trained on. Here we describe DNACipher, a deep learning model that predicts the effects of genetic variants across diverse biological contexts-including those not directly measured. DNACipher takes 196 kb of genome sequences as input and imputes variant effects across 38,582 cell type-assay combinations.
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