Advanced Structural Variant Detection

The Advanced Structural Variant Detection (beta) plugin is designed to identify structural variants based on combined evidence from unaligned read ends and coverage information of Whole Genome Sequencing (WGS) read mappings. It detects SVs with higher sensitivity and precision than the existing InDels and Structural Variants tool in the standard CLC Genomics Workbench toolbox.

The plugin is simple to use: just install and run on a whole genome sequencing read mapping from within the Workbench.

Known limitations:

  • The plugin is not intended for use on long read data, targeted panel data, or RNA-seq data.
  • Samples must have a well-defined ploidy – the detection of somatic variants is not explicitly supported.

Note that this plugin is in beta.

Figure 1. A genome track view of a read mapping and a 3407 bp long deletion identified with the Advanced Structural Variant Detection (beta) plugin.

Downloads


Plugin Manual

Download manual

Plugin Download

Download plugin

Download Advanced Structural Variant Detection (Beta)


Version

Platform support

Download

1.0.0 Beta v.1

CLC Genomics Workbench


 [12.0]

Server plugin Downloads

Download plugin

Download Advanced Structural Variant Detection Server Plugin (Beta)


Version

Platform support

Download

1.0.0 Beta v.1

CLC Genomics Server


 [11.0]

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