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. Keywords RNA, Untranslated, Humans, Transcription Factors, Mutation, Models, Genetic, Algorithms, Regulatory Sequences, Nucleic Acid, Polymorphism, Single Nucleotide, Chromatin, Support Vector Machine, Epigenomics, Genome, Human, Hepatocyte Nuclear Factor 3-alpha, Quantitative Trait Loci Journal Nat Methods Volume 12 Issue 10 Pages 931-4 Date Published 2015 Oct ISSN Number 1548-7105 DOI 10.1038/nmeth.3547 Alternate Journal Nat Methods PMCID PMC4768299 PMID 26301843 PubMedPubMed CentralGoogle ScholarBibTeXEndNote X3 XML