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SVision: a deep learning approach to resolve complex structural variants.

Jiadong LinSongbo WangPeter A AudanoDeyu MengJacob I FloresWalter A KostersXiaofei YangPeng JiaTobias MarschallChristine R BeckKai Ye
Published in: Nature methods (2022)
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.
Keyphrases
  • deep learning
  • sensitive detection
  • high resolution
  • copy number
  • single cell
  • machine learning
  • quantum dots
  • artificial intelligence
  • working memory
  • electronic health record
  • dna methylation