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De novo and somatic structural variant discovery with SVision-pro.

Songbo WangJiadong LinPeng JiaTun XuXiujuan LiYuezhuangnan LiuDan XuStephen J BushDeyu MengKai Ye
Published in: Nature biotechnology (2024)
Long-read-based de novo and somatic structural variant (SV) discovery remains challenging, necessitating genomic comparison between samples. We developed SVision-pro, a neural-network-based instance segmentation framework that represents genome-to-genome-level sequencing differences visually and discovers SV comparatively between genomes without any prerequisite for inference models. SVision-pro outperforms state-of-the-art approaches, in particular, the resolving of complex SVs is improved, with low Mendelian error rates, high sensitivity of low-frequency SVs and reduced false-positive rates compared with SV merging approaches.
Keyphrases
  • neural network
  • anti inflammatory
  • copy number
  • small molecule
  • single cell
  • genome wide
  • high throughput
  • deep learning
  • machine learning
  • dna methylation
  • gene expression