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