| Literature DB >> 36109679 |
Jiadong Lin1,2,3,4, Songbo Wang1,2,3, Peter A Audano5, Deyu Meng1,6,7, Jacob I Flores5, Walter Kosters4, Xiaofei Yang1,8, Peng Jia1,2,3, Tobias Marschall9, Christine R Beck5,10, Kai Ye11,12,13,14,15.
Abstract
Complex structural variants (CSVs) encompass multiple breakpoints and are often missed or misinterpreted. We developed SVision, a deep-learning-based multi-object-recognition framework, to automatically detect and haracterize CSVs from long-read sequencing data. SVision outperforms current callers at identifying the internal structure of complex events and has revealed 80 high-quality CSVs with 25 distinct structures from an individual genome. SVision directly detects CSVs without matching known structures, allowing sensitive detection of both common and previously uncharacterized complex rearrangements.Entities:
Mesh:
Year: 2022 PMID: 36109679 DOI: 10.1038/s41592-022-01609-w
Source DB: PubMed Journal: Nat Methods ISSN: 1548-7091 Impact factor: 47.990