diff --git a/CHANGELOG.md b/CHANGELOG.md index 81d98c46..94d73091 100644 --- a/CHANGELOG.md +++ b/CHANGELOG.md @@ -7,13 +7,14 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0 ### `Added` +- A new parameter `skip_smncopynumbercaller` to skip smncopynumbercaller module[#574](https://github.com/nf-core/raredisease/pull/574) - A new parameter `skip_sv_calling` to skip sv calling workflow [#572](https://github.com/nf-core/raredisease/pull/572) - Two new parameters `skip_snv_calling` and `skip_repeat_analysis` to skip snv calling and repeat analysis respectively [#571](https://github.com/nf-core/raredisease/pull/571) - Two new parameters `mbuffer_mem` and `samtools_sort_threads` to control resources given to mbuffer and samtools sort in the bwameme module [#570](https://github.com/nf-core/raredisease/pull/570) ### `Changed` -- Remove several skip parameters that had been included in the pipeline to avoid failed CI tests [#574](https://github.com/nf-core/raredisease/pull/574) +- Remove several skip parameters that had been included in the pipeline to avoid failed CI tests (see parameters table below) [#574](https://github.com/nf-core/raredisease/pull/574) - `readcount_intervals` parameter is now mandatory for running germlinecnvcaller. [#570](https://github.com/nf-core/raredisease/pull/570) - Turn off CNVnator, TIDDIT, SMNCopyNumberCaller, Gens, and Vcf2cytosure for targeted analysis [#573](https://github.com/nf-core/raredisease/pull/573) @@ -24,17 +25,18 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0 ### Parameters -| Old parameter | New parameter | -| --------------- | --------------------- | -| | mbuffer_mem | -| | samtools_sort_threads | -| | skip_repeat_analysis | -| | skip_snv_calling | -| | skip_sv_calling | -| skip_eklipse | | -| skip_fastqc | | -| skip_haplocheck | | -| skip_qualimap | | +| Old parameter | New parameter | +| --------------- | ------------------------ | +| | mbuffer_mem | +| | samtools_sort_threads | +| | skip_repeat_analysis | +| | skip_snv_calling | +| | skip_sv_calling | +| skip_eklipse | | +| skip_fastqc | | +| skip_haplocheck | | +| skip_qualimap | | +| | skip_smncopynumbercaller | ## 2.1.0 - Obelix [2024-05-29] diff --git a/nextflow.config b/nextflow.config index 4e3ed9a0..1ec0f584 100644 --- a/nextflow.config +++ b/nextflow.config @@ -35,6 +35,7 @@ params { skip_me_annotation = false skip_mt_annotation = false skip_repeat_analysis = false + skip_smncopynumbercaller = false skip_snv_annotation = false skip_snv_calling = false skip_sv_annotation = false diff --git a/nextflow_schema.json b/nextflow_schema.json index 222f123a..46e4bdbf 100644 --- a/nextflow_schema.json +++ b/nextflow_schema.json @@ -553,6 +553,11 @@ "description": "Specifies whether or not to skip calling and annotation of repeat expansions.", "fa_icon": "fas fa-toggle-on" }, + "skip_smncopynumbercaller": { + "type": "boolean", + "description": "Specifies whether or not to skip smncopynumbercaller.", + "fa_icon": "fas fa-toggle-on" + }, "skip_snv_annotation": { "type": "boolean", "description": "Specifies whether or not to skip annotate SNV subworkflow.", diff --git a/workflows/raredisease.nf b/workflows/raredisease.nf index 01212cc2..eb349c78 100644 --- a/workflows/raredisease.nf +++ b/workflows/raredisease.nf @@ -90,6 +90,9 @@ if (!params.skip_gens) { mandatoryParams += ["gens_gnomad_pos", "gens_interval_list", "gens_pon_female", "gens_pon_male"] } +if (!params.skip_smncopynumbercaller) { + mandatoryParams += ["genome"] +} for (param in mandatoryParams.unique()) { if (params[param] == null) { println("params." + param + " not set.") @@ -693,7 +696,7 @@ workflow RAREDISEASE { ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ */ - if ( params.analysis_type.equals("wgs") ) { + if ( params.analysis_type.equals("wgs") && !params.skip_smncopynumbercaller ) { RENAME_BAM_FOR_SMNCALLER(ch_mapped.genome_marked_bam, "bam").output .collect{it} .toList()