Title | Predicting effects of noncoding variants with deep learning-based sequence model. |
Publication Type | Journal Article |
Year of Publication | 2015 |
Authors | Zhou, J, Troyanskaya, OG |
Journal | Nat Methods |
Date Published | 2015 Aug 24 |
Abstract | Identifying functional effects of noncoding variants is a major challenge in human genetics. To predict the noncoding-variant effects de novo from sequence, we developed a deep learning-based algorithmic framework, DeepSEA (http://deepsea.princeton.edu/), that directly learns a regulatory sequence code from large-scale chromatin-profiling data, enabling prediction of chromatin effects of sequence alterations with single-nucleotide sensitivity. We further used this capability to improve prioritization of functional variants including expression quantitative trait loci (eQTLs) and disease-associated variants. |
Alternate Journal | Nat. Methods |