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Running spell-check to identify regulatory variants.

Martin KircherJay Shendure
Published in: Nature genetics (2015)
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.
Keyphrases
  • gene expression
  • transcription factor
  • endothelial cells
  • dna methylation
  • copy number
  • high resolution