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Nat Genet. 2015 Aug;47(8):853-5. doi: 10.1038/ng.3364.

Running spell-check to identify regulatory variants.

Author information

  • 1Department of Genome Sciences, University of Washington, Seattle, Washington, USA.

Abstract

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.

PMID:
26220134
DOI:
10.1038/ng.3364
[PubMed - indexed for MEDLINE]
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