Article
Running spell-check to identify regulatory variants.
Nature genetics - 1 Aug 2015
Kircher Martin, Shendure Jay
Abstract excerpt
A major challenge in human genetics is pinpointing which non-coding genetic variants affect gene expression and disease risk. A new study in this issue describes a broadly applicable approach for this task that explicitly models cell type-specific regulatory motifs and generates variant effect predictions that are more accurate and interpretable than those of alternative tools.
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