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Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing.

Shunichi KosugiYukihide MomozawaXiaoxi LiuChikashi TeraoMichiaki KuboYoichiro Kamatani
Published in: Genome biology (2019)
These results suggest that careful selection of the algorithms for each type and size range of SVs is required for accurate calling of SVs. The selection of specific pairs of algorithms for overlapping calls promises to effectively improve the SV detection accuracy.
Keyphrases
  • machine learning
  • deep learning
  • loop mediated isothermal amplification
  • real time pcr
  • label free
  • mass spectrometry
  • sensitive detection