
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.
Epigenomics, Hepatocyte Nuclear Factor 3-alpha, RNA, Untranslated, Support Vector Machine, Models, Genetic, Genome, Human, Quantitative Trait Loci, Regulatory Sequences, Nucleic Acid, Polymorphism, Single Nucleotide, Chromatin, Mutation, Humans, Algorithms, Transcription Factors
Epigenomics, Hepatocyte Nuclear Factor 3-alpha, RNA, Untranslated, Support Vector Machine, Models, Genetic, Genome, Human, Quantitative Trait Loci, Regulatory Sequences, Nucleic Acid, Polymorphism, Single Nucleotide, Chromatin, Mutation, Humans, Algorithms, Transcription Factors
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