Resolving somatic SVs via full-length sequence model-based local graph-genome optimization
Kailing Tu, Qilin Zhang, Yang Li, Yucong Li, Lanfang Yuan, Jing Wang, Jie Tang, Xia Lin, Wei Huang, Dan Xie
SVscope improves somatic SV detection using full-length sequence models and local graph-genome optimization, achieving higher accuracy than existing methods.
bioRxiv · Feb 11, 2025 · PreprintBioinformatics