Article

Functional Interpretation of Genetic Variants Using Deep Learning Predicts Impact on Epigenome

2018-08-09

Abstract excerpt

<h4>ABSTRACT</h4> Identifying causal variants underling disease risk and adoption of personalized medicine are currently limited by the challenge of interpreting the functional consequences of genetic variants. Predicting the functional effects of disease-associated protein-coding variants is increasingly routine. Yet the vast majority of risk variants are non-coding, and predicting the functional consequence and...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d46e501d-5931-548c-b740-464d0807b1c5
DOI: 10.1101/389056

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Functional Interpretation of Genetic Variants Using Deep Learning Predicts Impact on EpigenomeDOI 10.1101/389056Read

Deep learning approaches for non-coding genetic variant effect prediction: current progress and future prospects.Semantic proximity Read

Predicting the impact of non-coding variants on DNA methylationSemantic proximity Read

Predicting the impact of non-coding variants on DNA methylation.Semantic proximity Read

DeepPerVar: a multimodal deep learning framework for functional interpretation of genetic variants in personal genomeSemantic proximity Read

Predicting the effect of non-coding mutations on single-cell DNA methylation using deep learningSemantic proximity Read

Predicting effects of noncoding variants with deep learning-based sequence model.Semantic proximity Read

Advancing regulatory variant effect prediction with AlphaGenome.Semantic proximity Read

DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome.Semantic proximity Read

AlphaGenome: advancing regulatory variant effect prediction with a unified DNA sequence modelSemantic proximity Read

Predicting cell type-specific epigenomic profiles accounting for distal genetic effects.Semantic proximity Read

Cell type-specific interpretation of noncoding variants using deep learning-based methodsSemantic proximity Read

DeepFun: a deep learning sequence-based model to decipher non-coding variant effect in a tissue- and cell type-specific manner.Semantic proximity Read