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Knowledge Exchange: The EPI2ME Labs structural variation tutorial – an extensible framework for SV detection, QC, and visualisation

EPI2ME Labs is an emerging Oxford Nanopore product that introduces best practise and literate bioinformatics workflows. The workflows are packaged as follow-along tutorials and are provided with example datasets.

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Learning objectives
  • Introduce the EPI2ME Labs SV tutorial and explain the broader bioinformatic process
  • Understand how a dataset with 30X coverage of the GM24385 human genome can be used to detect high quality structural variations
  • Appreciate how to extend the SV workflow to include benchmarking functionality based on the Truvari software
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