Opened 2 weeks ago

Last modified 6 hours ago

#1623 new task

Implement WGS structural variant calling pipeline

Reported by: Nicklas Nordborg Owned by: Nicklas Nordborg
Priority: major Milestone: Reggie v5.5
Component: net.sf.basedb.reggie Keywords:
Cc:

Description

This should be similar to the existing WGS variant calling, but check for structural variants instead. gridss (https://github.com/PapenfussLab/gridss) is a possible candidate to use for the variant calling, but we probably need some post processing of the results as well.

Change History (15)

comment:1 by Nicklas Nordborg, 2 weeks ago

In 7924:

References #1623: Implement WGS structural variant calling pipeline

Added an item list, pipeline and annotation type category for structural variant calls. New wizards on the start page.

comment:2 by Nicklas Nordborg, 2 weeks ago

In 7925:

References #1623: Implement WGS structural variant calling pipeline

Started to implement this wizard. Tumor-Normal pairs can be selected and submitted to the cluster but the script doesn't do anything.

comment:3 by Nicklas Nordborg, 2 weeks ago

In 7926:

References #1623: Implement WGS structural variant calling pipeline

Added a container with gridss.

comment:4 by Nicklas Nordborg, 2 weeks ago

In 7927:

References #1623: Implement WGS structural variant calling pipeline

Started to implement the variant calling script. First step is to copy the tumor and normal BAM files. In debug mode it is possible to work with a subset (chr1 default).

comment:5 by Nicklas Nordborg, 2 weeks ago

In 7928:

References #1623: Implement WGS structural variant calling pipeline

Added the gridss pre-processing step.

comment:6 by Nicklas Nordborg, 2 weeks ago

In 7929:

References #1623: Implement WGS structural variant calling pipeline

Implemented the "assemble" step.

comment:7 by Nicklas Nordborg, 2 weeks ago

In 7930:

References #1623: Implement WGS structural variant calling pipeline

Implemented the variant calling step.

comment:8 by Nicklas Nordborg, 2 weeks ago

In 7931:

References #1623: Implement WGS structural variant calling pipeline

Implemented the somatic filtering step.

comment:9 by Nicklas Nordborg, 2 weeks ago

In 7932:

References #1623: Implement WGS structural variant calling pipeline

Organising result files and linking them in BASE to the variant call bioassay.

comment:10 by Nicklas Nordborg, 6 days ago

In 7944:

References #1623: Implement WGS structural variant calling pipeline

Added a step that create bedpe and bed files from the VCF. The bedpe file is needed for the mutational signature step.

comment:11 by Nicklas Nordborg, 6 days ago

In 7946:

References #1623: Implement WGS structural variant calling pipeline

Added annotations also for the number of single breakends.

comment:12 by Nicklas Nordborg, 36 hours ago

In 7960:

References #1623: Implement WGS structural variant calling pipeline

Added a manual confirmation wizard for structural variants. The VCF file is currently linked to the regular VCF viewer which doens't work so good for this kind of VCF so we need something different here.

comment:13 by Nicklas Nordborg, 36 hours ago

In 7961:

References #1623: Implement WGS structural variant calling pipeline

Fixes some issues with the "Start structural variant call" wizard.

comment:14 by Nicklas Nordborg, 36 hours ago

In 7962:

References #1623: Implement WGS structural variant calling pipeline

Added support for auto-confirmation after structural variant calling.

comment:15 by Nicklas Nordborg, 6 hours ago

In 7971:

References #1623: Implement WGS structural variant calling pipeline

Added a circos plot of the breakends to the output.

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