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1 | 1 | # bolt |
| 2 | + |
| 3 | +`bolt` implements the UMCCR WGS post-processing logic and supporting functionality, and is used extensively throughout the |
| 4 | +UMCCR workflow [`sash`](https://github.com/scwatts/sash). |
| 5 | + |
| 6 | +The post-processing logic is organised into individual processing steps, which are collectively grouped according to the |
| 7 | +type of data processed. Each processing step is accessible through specific `bolt` commands (see [Available |
| 8 | +commands](#available-commands) for the complete listing) and can be run in isolation. Processing steps are integrated |
| 9 | +into a production workflow in the `sash` pipeline. |
| 10 | + |
| 11 | +## Table of contents |
| 12 | + |
| 13 | +* [Available commands](#available-commands) |
| 14 | +* [Docker images](#docker-images) |
| 15 | +* [Usage](#usage) |
| 16 | + |
| 17 | +## Available commands |
| 18 | + |
| 19 | +### Germline small variants |
| 20 | + |
| 21 | +| Command | Purpose | |
| 22 | +| --- | --- | |
| 23 | +| `bolt smlv_germline prepare` | Select variants given a genome regions file | |
| 24 | +| `bolt smlv_germline report` | Generate summary statistics and CPSR report | |
| 25 | + |
| 26 | +### Somatic small variants |
| 27 | + |
| 28 | +| Command | Purpose | |
| 29 | +| --- | --- | |
| 30 | +| `bolt smlv_somatic rescue` | Supplement DRAGEN calls with SAGE calls and info | |
| 31 | +| `bolt smlv_somatic annotate` | Annotate variants with PCGR, PON, and defined genomic regions | |
| 32 | +| `bolt smlv_somatic filter` | Set and apply filters for variants | |
| 33 | +| `bolt smlv_somatic report` | Generate summary statistics and PCGR report | |
| 34 | + |
| 35 | +### Somatic structural variants |
| 36 | + |
| 37 | +| Command | Purpose | |
| 38 | +| --- | --- | |
| 39 | +| `bolt sv_somatic annotate` | Annotate SVs (and CNVs) with SnpEff | |
| 40 | +| `bolt sv_somatic prioritise` | Prioritise variants with rank ordering using `prioritize_sv` | |
| 41 | + |
| 42 | +### Other |
| 43 | + |
| 44 | +| Command | Purpose | |
| 45 | +| --- | --- | |
| 46 | +| `bolt other cancer_report` | Generate the UMCCR Cancer Report | |
| 47 | +| `bolt other multiqc_report` | Generate the MultiQC report | |
| 48 | +| `bolt other purple_baf_plot` | Create a modified PURPLE plot with β-allele frequencies | |
| 49 | + |
| 50 | +## Docker images |
| 51 | + |
| 52 | +For convenience, several Docker images are provided to run `bolt` aimed at balancing image size with the complexity of |
| 53 | +the software environment and dependencies. Consequently, dependencies are split across six images: |
| 54 | + |
| 55 | +| Name | Docker image URI | Commands | |
| 56 | +| --- | --- | --- | |
| 57 | +| pcgr | ghcr.io/scwatts/bolt:0.2.13-pcgr | • `bolt smlv_germline report`<br />• `bolt smlv_somatic annotate`<br />• `bolt smlv_somatic report`<br /> | |
| 58 | +| gpgr | ghcr.io/scwatts/bolt:0.2.13-gpgr | • `bolt other cancer_report` | |
| 59 | +| snpeff | ghcr.io/scwatts/bolt:0.2.13-snpeff | • `bolt sv_somatic annotate` | |
| 60 | +| circos | ghcr.io/scwatts/bolt:0.2.13-circos | • `bolt other purple_baf_plot` | |
| 61 | +| multiqc | ghcr.io/scwatts/bolt:0.2.13-multiqc | • `bolt other multiqc_report` | |
| 62 | +| base | ghcr.io/scwatts/bolt:0.2.13 | • `bolt smlv_germline prepare`<br />• `bolt smlv_somatic rescue`<br />• `bolt smlv_somatic filter`<br />• `bolt sv_somatic prioritise`<br /> | |
| 63 | + |
| 64 | +## Usage |
| 65 | + |
| 66 | +Given the nature of software dependencies required, it is strongly recommended to run `bolt` commands via the existing |
| 67 | +[Docker images](#docker-images): |
| 68 | + |
| 69 | +```bash |
| 70 | +docker run -ti -v $(pwd):$(pwd) -w $(pwd) ghcr.io/scwatts/bolt:0.2.13 \ |
| 71 | + bolt smlv_somatic filter \ |
| 72 | + --tumor_name tumor_sample \ |
| 73 | + --vcf_fp tumor_sample.vcf.gz \ |
| 74 | + --output_dir ./ |
| 75 | +``` |
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