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Merge pull request #179 from umccr/cli-update
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Update cli with sv_tsv
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pdiakumis authored Nov 8, 2024
2 parents 713b3a4 + 58c6b5b commit 8bbc353
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2 changes: 1 addition & 1 deletion README.Rmd
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Expand Up @@ -44,7 +44,7 @@ remotes::install_github("umccr/RNAsum#123") # PR 123
[conda]: <https://anaconda.org/umccr/r-rnasum>

```bash
conda install r-rnasum==0.0.X -c umccr -c conda-forge -c bioconda
conda install r-rnasum==X.X.X -c umccr -c conda-forge -c bioconda
```

- **Docker** image is available from the [GitHub Container Registy][ghcr]:
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32 changes: 16 additions & 16 deletions README.md
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Expand Up @@ -40,7 +40,7 @@ remotes::install_github("umccr/RNAsum#123") # PR 123
channel](https://anaconda.org/umccr/r-rnasum):

``` bash
conda install r-rnasum==0.0.X -c umccr -c conda-forge -c bioconda
conda install r-rnasum==X.X.X -c umccr -c conda-forge -c bioconda
```

- **Docker** image is available from the [GitHub Container
Expand Down Expand Up @@ -170,24 +170,24 @@ quantification file.

The table below lists all input data accepted in `RNAsum`:

| Input file | Tool | Example | Required |
|--------------------------------------|------------------------------------------------------------------------------------------------------------------------------------------------------|------------------------------------------------------------------------------------------------------|----------|
| Quantified transcript **abundances** | [salmon](https://salmon.readthedocs.io/en/latest/salmon.html) ([description](https://salmon.readthedocs.io/en/latest/file_formats.html#fileformats)) | [\*.quant.sf](/inst/rawdata/test_data/dragen/TEST.quant.sf) | **Yes** |
| Quantified gene **abundances** | [salmon](https://salmon.readthedocs.io/en/latest/salmon.html) ([description](https://salmon.readthedocs.io/en/latest/file_formats.html#fileformats)) | [\*.quant.gene.sf](/inst/rawdata/test_data/dragen/TEST.quant.gene.sf) | **Yes** |
| **Fusion gene** list | [Arriba](https://arriba.readthedocs.io/en/latest/) | [fusions.tsv](/inst/rawdata/test_data/dragen/test_sample_WTS.fusion_candidates.final) | No |
| **Fusion gene** list | [DRAGEN RNA](https://sapac.illumina.com/products/by-type/informatics-products/basespace-sequence-hub/apps/edico-genome-inc-dragen-rna-pipeline.html) | [\*.fusion_candidates.final](/inst/rawdata/test_data/dragen/test_sample_WTS.fusion_candidates.final) | No |
| Input file | Tool | Example | Required |
|----|----|----|----|
| Quantified transcript **abundances** | [salmon](https://salmon.readthedocs.io/en/latest/salmon.html) ([description](https://salmon.readthedocs.io/en/latest/file_formats.html#fileformats)) | [\*.quant.sf](/inst/rawdata/test_data/dragen/TEST.quant.sf) | **Yes** |
| Quantified gene **abundances** | [salmon](https://salmon.readthedocs.io/en/latest/salmon.html) ([description](https://salmon.readthedocs.io/en/latest/file_formats.html#fileformats)) | [\*.quant.gene.sf](/inst/rawdata/test_data/dragen/TEST.quant.gene.sf) | **Yes** |
| **Fusion gene** list | [Arriba](https://arriba.readthedocs.io/en/latest/) | [fusions.tsv](/inst/rawdata/test_data/dragen/test_sample_WTS.fusion_candidates.final) | No |
| **Fusion gene** list | [DRAGEN RNA](https://sapac.illumina.com/products/by-type/informatics-products/basespace-sequence-hub/apps/edico-genome-inc-dragen-rna-pipeline.html) | [\*.fusion_candidates.final](/inst/rawdata/test_data/dragen/test_sample_WTS.fusion_candidates.final) | No |

### WGS

`RNAsum` is designed to be compatible with WGS outputs.

The table below lists all input data accepted in `RNAsum`:

| Input file | Tool | Example | Required |
|-----------------|-------------------------------------------------------------------------|---------------------------------------------------------------------------------------------------------------------------|----------|
| **SNVs/Indels** | [PCGR](https://github.com/sigven/pcgr) | [pcgr.snvs_indels.tiers.tsv](/inst/rawdata/test_data/umccrised/test_sample_WGS/small_variants/pcgr.snvs_indels.tiers.tsv) | No |
| **CNVs** | [PURPLE](https://github.com/hartwigmedical/hmftools/tree/master/purple) | [purple.cnv.gene.tsv](/inst/rawdata/test_data/umccrised/test_sample_WGS/purple/purple.gene.cnv) | No |
| **SVs** | [Manta](https://github.com/Illumina/manta) | [sv-prioritize-manta.tsv](/inst/rawdata/test_data/umccrised/test_sample_WGS/structural/sv-prioritize-manta.tsv) | No |
| Input file | Tool | Example | Required |
|----|----|----|----|
| **SNVs/Indels** | [PCGR](https://github.com/sigven/pcgr) | [pcgr.snvs_indels.tiers.tsv](/inst/rawdata/test_data/umccrised/test_sample_WGS/small_variants/pcgr.snvs_indels.tiers.tsv) | No |
| **CNVs** | [PURPLE](https://github.com/hartwigmedical/hmftools/tree/master/purple) | [purple.cnv.gene.tsv](/inst/rawdata/test_data/umccrised/test_sample_WGS/purple/purple.gene.cnv) | No |
| **SVs** | [Manta](https://github.com/Illumina/manta) | [sv-prioritize-manta.tsv](/inst/rawdata/test_data/umccrised/test_sample_WGS/structural/sv-prioritize-manta.tsv) | No |

## Usage

Expand All @@ -197,13 +197,13 @@ export PATH="${rnasum_cli}:${PATH}"
```

$ rnasum.R --version
1.1.0
1.1.4

$ rnasum.R --help
Usage
=====
/Library/Frameworks/R.framework/Versions/4.2/Resources/library/RNAsum/cli/rnasum.R [options]
/Library/Frameworks/R.framework/Versions/4.4-arm64/Resources/library/RNAsum/cli/rnasum.R [options]


Options
Expand Down Expand Up @@ -253,8 +253,8 @@ export PATH="${rnasum_cli}:${PATH}"
--log
Log2 transform data before normalisation.

--manta_tsv=MANTA_TSV
File path to umccrise 'manta.tsv' output.
--sv_tsv=SV_TSV
File path to text file with genes related to structural variation.

--norm=NORM
Normalisation method.
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2 changes: 1 addition & 1 deletion inst/cli/rnasum.R
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Expand Up @@ -28,7 +28,6 @@ option_list <- list(
make_option("--filter", action = "store_true", help = "Filter out low expressed genes."),
make_option("--immunogram", action = "store_true", help = "Include immunogram in report."),
make_option("--log", action = "store_true", help = "Log2 transform data before normalisation."),
make_option("--manta_tsv", type = "character", help = "File path to umccrise 'manta.tsv' output."),
make_option("--norm", type = "character", help = "Normalisation method."),
make_option("--pcgr_splice_vars", action = "store_true", help = "Include non-coding splice region variants reported in PCGR."),
make_option("--pcgr_tier", default = 4, type = "integer", help = "Tier threshold for reporting variants reported in PCGR. [def: %default]"),
Expand All @@ -42,6 +41,7 @@ option_list <- list(
make_option("--save_tables", action = "store_true", help = "Save interactive summary tables as HTML."),
make_option("--scaling", default = "gene-wise", type = "character", help = "Scaling for z-score transformation (gene-wise or group-wise). [def: %default]"),
make_option("--subject_id", type = "character", help = "Subject ID."),
make_option("--sv_tsv", type = "character", help = "File path to text file with genes related to structural variation."),
make_option("--top_genes", default = 5, type = "integer", help = "Number of top ranked genes to be presented in report."),
make_option("--transform", default = "CPM", type = "character", help = "Transformation method to be used when converting read counts. [def: %default]"),
make_option("--umccrise", type = "character", help = "Directory path of the corresponding WGS-related umccrise data."),
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2 changes: 1 addition & 1 deletion inst/rmd/rnasum.Rmd
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Expand Up @@ -25,7 +25,6 @@ params:
filter: TRUE
immunogram: FALSE
log: TRUE
sv_tsv: NULL
norm: TMM
pcgr_splice_vars: TRUE
pcgr_tier: 4
Expand All @@ -39,6 +38,7 @@ params:
save_tables: TRUE
scaling: 'gene-wise'
subject_id: NULL
sv_tsv: NULL
top_genes: 5
transform: 'CPM'
umccrise: NULL
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