Predicting effects of noncoding variants with deep learning-based sequence model. Author Jian Zhou, Olga Troyanskaya Publication Year 2015 Type Journal Article 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. Journal Nat Methods Date Published 08/2015 Alternate Journal Nat. Methods Google ScholarBibTeXEndNote X3 XML