Running spell-check to identify regulatory variants

Martin Kircher, Jay Shendure

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.

Original languageEnglish
JournalNature Genetics
Volume47
Issue number8
Pages (from-to)853-855
Number of pages3
ISSN1061-4036
DOIs
Publication statusPublished - 30.08.2015

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