Article

Quantify genetic variants' regulatory potential via a hybrid sequence-oriented model

2024-04-01

Abstract excerpt

Understanding how noncoding DNA determines gene expression is critical for decoding the functional genome. Leveraging a hybrid sequence-oriented architecture, we developed SVEN to model (and predict) tissue-specific transcriptomic impacts for large-scale structural variants across over 200 tissues and cell lines. We expect that SVEN will enable more effective in silico analysis and interpretation of human genome-w...

Topics

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

Identifiers and source

Literature Corpus work: 47b3b4a3-4a2a-5334-9506-f81e0837ebe4
DOI: 10.1101/2024.03.28.587115

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Quantify genetic variants' regulatory potential via a hybrid sequence-oriented modelDOI 10.1101/2024.03.28.587115Read

Quantifying the regulatory potential of genetic variants via a hybrid sequence-oriented model with SVEN.Semantic proximity Read

Predicting the regulatory impacts of noncoding variants on gene expression through epigenomic integration across tissues and single-cell landscapes.Semantic proximity Read

Transcriptomic signatures across human tissues identify functional rare genetic variation.Semantic proximity Read

Interpreting noncoding genetic variation in complex traits and human disease.Semantic proximity Read

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genesSemantic proximity Read

RegVar: Tissue-specific Prioritization of Noncoding Regulatory VariantsSemantic proximity Read

Gene-centered representation of coding and regulatory variation enables outcome predictionSemantic proximity Read

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

RegVar: Tissue-specific Prioritization of Non-coding Regulatory Variants.Semantic proximity Read

VariantFormer: A hierarchical transformer integrating DNA sequences with genetic variations and regulatory landscapes for personalized gene expression predictionSemantic proximity Read

The impact of structural variation on human gene expressionSemantic proximity Read

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