Running spell-check to identify regulatory variants
- PMID: 26220134
- DOI: 10.1038/ng.3364
Running spell-check to identify regulatory variants
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.
Comment on
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A method to predict the impact of regulatory variants from DNA sequence.Nat Genet. 2015 Aug;47(8):955-61. doi: 10.1038/ng.3331. Epub 2015 Jun 15. Nat Genet. 2015. PMID: 26075791 Free PMC article.
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