bioRxivBioinformaticsPreprint
Quantify genetic variants' regulatory potential via a hybrid sequence-oriented model
Abstract
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-wide disease-related genetic variants.
- organism: human
- assay: whole-genome sequencing
- research focus: variant effect prediction
- approach: statistical model
- Citations
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