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Running spell-check to identify regulatory variants

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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Figure 1: Correlation of conservation measures and functional effects with gene expression.

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Correspondence to Jay Shendure.

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Kircher, M., Shendure, J. Running spell-check to identify regulatory variants. Nat Genet 47, 853–855 (2015). https://doi.org/10.1038/ng.3364

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