Refactor references

.github/workflows/awsfulltest.yml

@@ -46,7 +46,6 @@ jobs:
               "cosmic_username": "${{ secrets.cosmic_username }}",
               "cosmic_passwd": "${{ secrets.cosmic_passwd }}",
               "all": true,
-              "build_references": true
             }
           profiles: test_full,aws_tower
       - uses: actions/upload-artifact@v4
@@ -55,19 +54,3 @@ jobs:
           path: |
             seqera_platform_action_*.log
             seqera_platform_action_*.json
-      - name: Launch run workflow via tower
-        uses: seqeralabs/action-tower-launch@v2
-        with:
-          workspace_id: ${{ secrets.TOWER_WORKSPACE_ID }}
-          access_token: ${{ secrets.TOWER_ACCESS_TOKEN }}
-          compute_env: ${{ secrets.TOWER_COMPUTE_ENV }}
-          workdir: s3://${{ secrets.AWS_S3_BUCKET }}/work/rnafusion/work-${{ github.sha }}
-          parameters: |
-            {
-              "outdir": "s3://${{ secrets.AWS_S3_BUCKET }}/rnafusion/results-${{ github.sha }}",
-              "genomes_base": "s3://${{ secrets.AWS_S3_BUCKET }}/rnafusion/results-${{ github.sha }}/references",
-              "cosmic_username": "${{ secrets.cosmic_username }}",
-              "cosmic_passwd": "${{ secrets.cosmic_passwd }}",
-              "all": true,
-            }
-          profiles: test_full,aws_tower

.github/workflows/awstest.yml

@@ -26,8 +26,7 @@ jobs:
               "cosmic_username": "${{ secrets.cosmic_username }}",
               "cosmic_passwd": "${{ secrets.cosmic_passwd }}",
               "all": true,
-              "stub": true,
-              "build_references": true
+              "stub": true
             }
           profiles: test,aws_tower
       - uses: actions/upload-artifact@v4
@@ -36,27 +35,3 @@ jobs:
           path: |
             tower_action_*.log
             tower_action_*.json
-
-      - name: Launch workflow via tower
-        uses: seqeralabs/action-tower-launch@v2
-        with:
-          workspace_id: ${{ secrets.TOWER_WORKSPACE_ID }}
-          access_token: ${{ secrets.TOWER_ACCESS_TOKEN }}
-          compute_env: ${{ secrets.TOWER_COMPUTE_ENV }}
-          workdir: s3://${{ secrets.AWS_S3_BUCKET }}/work/rnafusion/work-${{ github.sha }}
-          parameters: |
-            {
-              "outdir": "s3://${{ secrets.AWS_S3_BUCKET }}/rnafusion/results-${{ github.sha }}",
-              "genomes_base": "s3://${{ secrets.AWS_S3_BUCKET }}/rnafusion/results-${{ github.sha }}/references",
-              "cosmic_username": "${{ secrets.cosmic_username }}",
-              "cosmic_passwd": "${{ secrets.cosmic_passwd }}",
-              "all": true,
-              "stub": true
-            }
-          profiles: test,aws_tower
-      - uses: actions/upload-artifact@v4
-        with:
-          name: Seqera Platform debug log file
-          path: |
-            seqera_platform_action_*.log
-            seqera_platform_action_*.json

.github/workflows/ci.yml

@@ -39,7 +39,6 @@ jobs:
           - "latest-stable"
         test_profile:
           - "test_stub"
-          - "test_build"
         compute_profile:
           - "docker"
           - "singularity"

CHANGELOG.md

@@ -24,6 +24,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
 - Add nf-test to local module: `STARFUSION_BUILD`. [#585](https://github.com/nf-core/rnafusion/pull/585)
 - Add nf-test to local module: `STARFUSION_DETECT`. [#586](https://github.com/nf-core/rnafusion/pull/586)
 - Added a new module `CTATSPLICING_STARTOCANCERINTRONS` and a new parameter `--ctatsplicing`. This options creates reports on cancer splicing abberations and requires one or both of `--arriba` and `--starfusion` to be given. [#587](https://github.com/nf-core/rnafusion/pull/587)
+- Add parameter `--references_only` when no data should be analysed, but only the references should be built [#505](https://github.com/nf-core/rnafusion/pull/505)
 
 ### Changed
 
@@ -34,6 +35,10 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
 - Remove double nested folder introduced in [#577](https://github.com/nf-core/rnafusion/pull/577), [#581](https://github.com/nf-core/rnafusion/pull/581)
 - Use docker.io and galaxy containers for fusioncatcher and starfusion (incl. fusioninspector) instead of wave as they are not functional on wave [#588](https://github.com/nf-core/rnafusion/pull/588)
 - Update STAR-Fusion to 1.14 [#588](https://github.com/nf-core/rnafusion/pull/588)
+- Use "-genePredExt -geneNameAsName2 -ignoreGroupsWithoutExons" (to mimic gms/tomte) for GTF_TO_REFFLAT [#505](https://github.com/nf-core/rnafusion/pull/505)
+- Integrate reference building in the main workflow [#505](https://github.com/nf-core/rnafusion/pull/505)
+- Move from ensembl to gencode base [#505](https://github.com/nf-core/rnafusion/pull/505)
+- Update from ensembl 102 to gencode 46 default references [#505](https://github.com/nf-core/rnafusion/pull/505)
 
 ### Fixed
 
@@ -48,12 +53,15 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
 ### Removed
 
 - Remove fusionGDB from documentation and fusion-report download stubs [#503](https://github.com/nf-core/rnafusion/pull/503)
+- Removed test-build as reference building gets integrated in the main workflow [#505](https://github.com/nf-core/rnafusion/pull/505)
+- Removed parameter `--build_references`
 
 ### Parameters
 
-| Old parameter | New parameter |
-| ------------- | ------------- |
-|               | `--no_cosmic` |
+| Old parameter        | New parameter       |
+| -------------------- | ------------------- |
+|                      | `--no_cosmic`       |
+| `--build_references` | `--references_only` |
 
 ## v3.0.2 - [2024-04-10]
 

README.md

@@ -19,7 +19,7 @@
 
 ## Introduction
 
-**nf-core/rnafusion** is a bioinformatics best-practice analysis pipeline for RNA sequencing consisting of several tools designed for detecting and visualizing fusion genes. Results from up to 5 fusion callers tools are created, and are also aggregated, most notably in a pdf visualiation document, a vcf data collection file, and html and tsv reports.
+**nf-core/rnafusion** is a bioinformatics best-practice analysis pipeline for RNA sequencing consisting of several tools designed for detecting and visualizing fusion genes. Results from up to 5 fusion callers tools are created, and are also aggregated, most notably in a pdf visualisation document, a vcf data collection file, and html and tsv reports.
 
 On release, automated continuous integration tests run the pipeline on a full-sized dataset on the AWS cloud infrastructure. This ensures that the pipeline runs on AWS, has sensible resource allocation defaults set to run on real-world datasets, and permits the persistent storage of results to benchmark between pipeline releases and other analysis sources. The results obtained from the full-sized test can be viewed on the [nf-core website](https://nf-co.re/rnafusion/results).
 
@@ -31,9 +31,9 @@ In rnafusion the full-sized test includes reference building and fusion detectio
 
 ### Build references
 
-`--build_references` triggers a parallel workflow to build references, which is a prerequisite to running the pipeline:
+`--references_only` triggers a workflow to ONLY build references, otherwise the references are build when the analysis is run:
 
-1. Download ensembl fasta and gtf files
+1. Download gencode fasta and gtf files
 2. Create [STAR](https://github.com/alexdobin/STAR) index
 3. Download [Arriba](https://github.com/suhrig/arriba) references
 4. Download [FusionCatcher](https://github.com/ndaniel/fusioncatcher) references
@@ -78,7 +78,7 @@ First, build the references:
 nextflow run nf-core/rnafusion \
    -profile test,<docker/singularity/.../institute> \
    --outdir <OUTDIR>\
-   --build_references \
+   --references_only \
    -stub
 ```
 

conf/modules.config

@@ -18,10 +18,6 @@ process {
         saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
     ]
 
-    withName: GFFREAD {
-        ext.args = '-w -S'
-    }
-
     withName: 'ARRIBA_ARRIBA' {
         publishDir = [
             path: { "${params.outdir}/arriba" },
@@ -40,7 +36,7 @@ process {
     }
 
     withName: 'ARRIBA_VISUALISATION' {
-        ext.when   = { !params.fusioninspector_only && (params.starfusion || params.all) }
+        ext.when   = { {!params.fusioninspector_only} && ({params.starfusion} || {params.all}) }
         ext.prefix = { "${meta.id}_combined_fusions_arriba_visualisation" }
         publishDir = [
             path: { "${params.outdir}/arriba_visualisation" },
@@ -73,9 +69,9 @@ process {
         ]
     }
 
-    withName: 'ENSEMBL_DOWNLOAD' {
+    withName: 'GENCODE_DOWNLOAD' {
         publishDir = [
-            path: { "${params.genomes_base}/ensembl" },
+            path: { "${params.genomes_base}/gencode" },
             mode: params.publish_dir_mode,
             saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
         ]
@@ -87,7 +83,7 @@ process {
 
     withName: 'FASTQC' {
         ext.args = '--quiet'
-        ext.when         = { !params.skip_qc }
+        ext.when = {!params.skip_qc}
         publishDir = [
             path: { "${params.outdir}/fastqc" },
             mode: params.publish_dir_mode,
@@ -97,6 +93,7 @@ process {
 
     withName: 'FASTQC_FOR_FASTP' {
         ext.args = '--quiet'
+        ext.when = { !params.skip_qc }
         ext.prefix = { "${meta.id}_trimmed" }
         publishDir = [
             path: { "${params.outdir}/fastqc_for_fastp" },
@@ -119,7 +116,7 @@ process {
 
     withName: 'FUSIONINSPECTOR' {
         ext.when = { !params.skip_vis }
-        ext.args = { params.fusioninspector_limitSjdbInsertNsj != 1000000 ? "--STAR_xtra_params \"--limitSjdbInsertNsj ${params.fusioninspector_limitSjdbInsertNsj}\"" : '' }
+        ext.args = { ${params.fusioninspector_limitSjdbInsertNsj} != 1000000 ? "--STAR_xtra_params \"--limitSjdbInsertNsj ${params.fusioninspector_limitSjdbInsertNsj}\"" : '' }
         ext.args2 = '--annotate --examine_coding_effect'
     }
 
@@ -146,12 +143,39 @@ process {
 
     withName: 'GATK4_BEDTOINTERVALLIST' {
         publishDir = [
-            path: { "${params.genomes_base}/ensembl" },
+            path: { "${params.genomes_base}/gencode" },
             mode: params.publish_dir_mode,
             saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
         ]
     }
 
+    withName: 'GATK4_MARKDUPLICATES' {
+        ext.when         = { {!params.skip_qc} && {!params.fusioninspector_only} && ( {params.starfusion}|| {params.all}) }
+        publishDir = [
+            path: { "${params.outdir}/picard" },
+            mode: params.publish_dir_mode,
+            saveAs: { filename -> filename.equals('versions.yml') ? null : filename },
+        ]
+    }
+
+    withName: 'GFFREAD' {
+        ext.args = { '-w -S' }
+        publishDir = [
+            path: { "${params.genomes_base}/gffread" },
+            mode: params.publish_dir_mode,
+            saveAs: { filename -> filename.equals('versions.yml') ? null : filename },
+        ]
+    }
+
+    withName: 'GTF_TO_REFFLAT' {
+        ext.args = "-genePredExt -geneNameAsName2 -ignoreGroupsWithoutExons"
+        publishDir = [
+            path: { "${params.genomes_base}/gencode" },
+            mode: params.publish_dir_mode,
+            saveAs: { filename -> filename.equals('versions.yml') ? null : filename },
+        ]
+    }
+
     withName: 'HGNC_DOWNLOAD' {
         publishDir = [
             path: { "${params.genomes_base}/hgnc" },
@@ -161,7 +185,7 @@ process {
     }
     withName: 'MULTIQC' {
         ext.when         = { !params.skip_qc }
-        ext.args   = params.multiqc_title ? "--title \"$params.multiqc_title\"" : ''
+        ext.args   = {params.multiqc_title} ? "--title \"$params.multiqc_title\"" : ''
         publishDir = [
             path: { "${params.outdir}/multiqc" },
             mode: params.publish_dir_mode,
@@ -170,21 +194,12 @@ process {
     }
 
     withName: 'PICARD_COLLECTRNASEQMETRICS' {
-        ext.when         = { !params.skip_qc && !params.fusioninspector_only && (params.starfusion || params.all) }
+        ext.when         = { {!params.skip_qc} && {!params.fusioninspector_only} && ( {params.starfusion} || {params.all}) }
 
     }
 
-    withName: 'GATK4_MARKDUPLICATES' {
-        ext.when         = { !params.skip_qc && !params.fusioninspector_only && (params.starfusion || params.all) }
-        publishDir = [
-            path: { "${params.outdir}/picard" },
-            mode: params.publish_dir_mode,
-            saveAs: { filename -> filename.equals('versions.yml') ? null : filename },
-        ]
-    }
-
     withName: 'PICARD_COLLECTINSERTSIZEMETRICS' {
-        ext.when         = { !params.skip_qc && !params.fusioninspector_only && (params.starfusion || params.all) }
+        ext.when         = { ${!params.skip_qc} && ${!params.fusioninspector_only} && (${params.starfusion} || ${params.all}) }
         ext.prefix       = { "${meta.id}_collectinsertsize"}
         publishDir = [
             path: { "${params.outdir}/picard" },
@@ -215,7 +230,7 @@ process {
 
     withName: 'SAMTOOLS_FAIDX' {
         publishDir = [
-            path: { "${params.genomes_base}/ensembl" },
+            path: { "${params.genomes_base}/gencode" },
             mode: params.publish_dir_mode,
             saveAs: { filename -> filename.equals('versions.yml') ? null : filename },
         ]
@@ -375,16 +390,11 @@ process {
         ]
     }
 
-    withName: 'UCSC_GTFTOGENEPRED' {
-        ext.args   = "-genePredExt -geneNameAsName2"
-        publishDir = [
-            path: { "${params.genomes_base}/ensembl" },
-            mode: params.publish_dir_mode,
-            saveAs: { filename -> filename.equals('versions.yml') ? null : filename },
-        ]
-    }
-
     withName: 'VCF_COLLECT' {
         ext.when = { {!params.fusioninspector_only} && {!params.skip_vcf} }
     }
+
+    withName: '.*' {
+            ext.when = { !params.references_only || task.process.contains('BUILD_REFERENCES') }
+        }
 }

conf/test.config

@@ -16,6 +16,8 @@ params {
 
     // Input data
     input                  = 'https://raw.githubusercontent.com/nf-core/test-datasets/rnafusion/testdata/human/samplesheet_valid.csv'
+    all                    = true
+    no_cosmic              = true
 }
 
 // Limit and standardize resources for github actions and reproducibility

conf/test_build.config

@@ -15,7 +15,7 @@ params {
     config_profile_description = 'Minimal test dataset to check pipeline function'
 
     // Input data
-    build_references           = true
+    references_only            = true
     input                      = 'https://raw.githubusercontent.com/nf-core/test-datasets/rnafusion/testdata/human/samplesheet_valid.csv'
     no_cosmic                  = true
     all                        = true

docs/usage.md

@@ -10,7 +10,7 @@ The pipeline is divided into two parts:
 
 1. Download and build references
 
-- specified with `--build_references` parameter
+- specified with `--references_only` parameter
 - required only once before running the pipeline
 - **Important**: has to be run with each new release
 
@@ -32,7 +32,7 @@ The rnafusion pipeline needs references for the fusion detection tools, so downl
 ```bash
 nextflow run nf-core/rnafusion \
   -profile <docker/singularity/.../institute> \
-  --build_references --all \
+  --references_only --all \
   --cosmic_username <EMAIL> --cosmic_passwd <PASSWORD> \
   --genomes_base <PATH/TO/REFERENCES> \
   --outdir <PATH/TO/REFERENCES>
@@ -43,7 +43,7 @@ References for each tools can also be downloaded separately with:
 ```bash
 nextflow run nf-core/rnafusion \
   -profile <docker/singularity/.../institute> \
-  --build_references --<tool1> --<tool2> ... \
+  --references_only --<tool1> --<tool2> ... \
   --cosmic_username <EMAIL> --cosmic_passwd <PASSWORD> \
   --genomes_base <PATH/TO/REFERENCES> \
   --outdir <OUTPUT/PATH>
@@ -64,7 +64,7 @@ Use credentials from QIAGEN and add `--qiagen`
 ```bash
 nextflow run nf-core/rnafusion \
   -profile <docker/singularity/.../institute> \
-  --build_references --<tool1> --<tool2> ... \
+  --references_only --<tool1> --<tool2> ... \
   --cosmic_username <EMAIL> --cosmic_passwd <PASSWORD> \
   --genomes_base <PATH/TO/REFERENCES> \
   --outdir <OUTPUT/PATH> --qiagen
@@ -81,7 +81,7 @@ If process `FUSIONREPORT_DOWNLOAD` times out, it could be due to network restric
 ```bash
 nextflow run nf-core/rnafusion  \
   -profile <docker/singularity/.../institute> \
-  --build_references \
+  --references_only \
   --cosmic_username <EMAIL> --cosmic_passwd <PASSWORD> \
   --fusionreport \
   --genomes_base <PATH/TO/REFERENCES> \
@@ -93,7 +93,7 @@ Where the custom configuration could look like (adaptation to local machine nece
 
 ```text
 process {
-  withName:  'NFCORE_RNAFUSION:BUILD_REFERENCES:FUSIONREPORT_DOWNLOAD' {
+  withName:  'NFCORE_RNAFUSION:RNAFUSION:BUILD_REFERENCES:FUSIONREPORT_DOWNLOAD' {
     memory = '8.GB'
     cpus = 4
   }
@@ -162,7 +162,7 @@ If you are not covered by the research COSMIC license and want to avoid using CO
 
 > **IMPORTANT: Either `--all` or `--<tool>`** is necessary to run detection tools
 
-`--genomes_base` should be the path to the directory containing the folder `references/` that was built with `--build_references`.
+`--genomes_base` should be the path to the directory containing the folder `references/` that was built with `--references_only`.
 
 Note that the pipeline will create the following files in your working directory:
 
@@ -397,7 +397,6 @@ If `-profile` is not specified, the pipeline will run locally and expect all sof
 - `test`
   - A profile with a complete configuration for automated testing
   - Includes links to test data so needs no other parameters
-  - Needs to run in two steps: with `--build_references` first and then without `--build_references` to run the analysis
   - !!!! Run with `-stub` as all references need to be downloaded otherwise !!!!
 
 ### `-resume`