Running spell-check to identify regulatory variants

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

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.

Publication types

  • Comment

MeSH terms

  • Animals
  • Computational Biology / methods*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Polymorphism, Single Nucleotide*
  • Regulatory Sequences, Nucleic Acid / genetics*