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bolt

bolt implements the UMCCR WGS post-processing logic and supporting functionality, and is used extensively throughout the UMCCR workflow sash.

The post-processing logic is organised into individual processing steps, which are collectively grouped according to the type of data processed. Each processing step is accessible through specific bolt commands (see Available commands for the complete listing) and can be run in isolation. Processing steps are integrated into a production workflow in the sash pipeline.

Table of contents

Available commands

Germline small variants

Command Purpose
bolt smlv_germline prepare Select variants given a genome regions file
bolt smlv_germline report Generate summary statistics and CPSR report

Somatic small variants

Command Purpose
bolt smlv_somatic rescue Supplement DRAGEN calls with SAGE calls and info
bolt smlv_somatic annotate Annotate variants with PCGR, PON, and defined genomic regions
bolt smlv_somatic filter Set and apply filters for variants
bolt smlv_somatic report Generate summary statistics and PCGR report

Somatic structural variants

Command Purpose
bolt sv_somatic annotate Annotate SVs (and CNVs) with SnpEff
bolt sv_somatic prioritise Prioritise variants with rank ordering using prioritize_sv

Other

Command Purpose
bolt other cancer_report Generate the UMCCR Cancer Report
bolt other multiqc_report Generate the MultiQC report
bolt other purple_baf_plot Create a modified PURPLE plot with β-allele frequencies

Docker images

For convenience, several Docker images are provided to run bolt aimed at balancing image size with the complexity of the software environment and dependencies. Consequently, dependencies are split across six images:

Name Docker image URI Commands
pcgr ghcr.io/scwatts/bolt:0.2.13-pcgr bolt smlv_germline report
bolt smlv_somatic annotate
bolt smlv_somatic report
gpgr ghcr.io/scwatts/bolt:0.2.13-gpgr bolt other cancer_report
snpeff ghcr.io/scwatts/bolt:0.2.13-snpeff bolt sv_somatic annotate
circos ghcr.io/scwatts/bolt:0.2.13-circos bolt other purple_baf_plot
multiqc ghcr.io/scwatts/bolt:0.2.13-multiqc bolt other multiqc_report
base ghcr.io/scwatts/bolt:0.2.13 bolt smlv_germline prepare
bolt smlv_somatic rescue
bolt smlv_somatic filter
bolt sv_somatic prioritise

Usage

Given the nature of software dependencies required, it is strongly recommended to run bolt commands via the existing Docker images:

docker run -ti -v $(pwd):$(pwd) -w $(pwd) ghcr.io/scwatts/bolt:0.2.13 \
  bolt smlv_somatic filter \
    --tumor_name tumor_sample \
    --vcf_fp tumor_sample.vcf.gz \
    --output_dir ./

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