Nanovar: accurate characterization of patients’ genomic structural variants using low-depth nanopore sequencing

HIGHLIGHTS

• who: Cheng Yong Tham from the (UNIVERSITY) have published the paper: NanoVar: accurate characterization of patients’ genomic structural variants using low-depth nanopore sequencing, in the Journal: (JOURNAL)
• what: Although the authors propose the confidence score of 1.0 as a default threshold for running NanoVar, there might be situations where it is less effective and requires the retraining of the neural_network model. The authors showed that 12 Gb of 3GS data (4X coverage) produced a more comprehensive SV detection outcome than 160 Gb of 2GS data (53X coverage) when comparing the analysis done by . . .
  

   

  

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