diff --git a/CHANGELOG.md b/CHANGELOG.md index e0742170..196c5852 100644 --- a/CHANGELOG.md +++ b/CHANGELOG.md @@ -14,6 +14,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0 ### `Changed` - `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) ### `Fixed` diff --git a/subworkflows/local/call_structural_variants.nf b/subworkflows/local/call_structural_variants.nf index 76f40af5..e462e9d9 100644 --- a/subworkflows/local/call_structural_variants.nf +++ b/subworkflows/local/call_structural_variants.nf @@ -38,10 +38,17 @@ workflow CALL_STRUCTURAL_VARIANTS { .collect{it[1]} .set{ manta_vcf } - CALL_SV_TIDDIT (ch_genome_bam_bai, ch_genome_fasta, ch_bwa_index, ch_case_info) - .vcf - .collect{it[1]} - .set { tiddit_vcf } + if (params.analysis_type.equals("wgs")) { + CALL_SV_TIDDIT (ch_genome_bam_bai, ch_genome_fasta, ch_bwa_index, ch_case_info) + .vcf + .collect{it[1]} + .set { tiddit_vcf } + + CALL_SV_CNVNATOR (ch_genome_bam_bai, ch_genome_fasta, ch_genome_fai, ch_case_info) + .vcf + .collect{it[1]} + .set { cnvnator_vcf } + } if (!params.skip_germlinecnvcaller) { CALL_SV_GERMLINECNVCALLER (ch_genome_bam_bai, ch_genome_fasta, ch_genome_fai, ch_readcount_intervals, ch_genome_dictionary, ch_ploidy_model, ch_gcnvcaller_model) @@ -52,11 +59,6 @@ workflow CALL_STRUCTURAL_VARIANTS { ch_versions = ch_versions.mix(CALL_SV_GERMLINECNVCALLER.out.versions) } - CALL_SV_CNVNATOR (ch_genome_bam_bai, ch_genome_fasta, ch_genome_fai, ch_case_info) - .vcf - .collect{it[1]} - .set { cnvnator_vcf } - if (params.analysis_type.equals("wgs") || params.run_mt_for_wes) { CALL_SV_MT (ch_mt_bam_bai, ch_genome_fasta) ch_versions = ch_versions.mix(CALL_SV_MT.out.versions) @@ -64,16 +66,27 @@ workflow CALL_STRUCTURAL_VARIANTS { //merge if (params.skip_germlinecnvcaller) { + if (params.analysis_type.equals("wgs")) { + tiddit_vcf + .combine(manta_vcf) + .combine(cnvnator_vcf) + .toList() + .set { vcf_list } + } else { + manta_vcf + .toList() + .set { vcf_list } + } + } else if (params.analysis_type.equals("wgs")){ tiddit_vcf .combine(manta_vcf) + .combine(gcnvcaller_vcf) .combine(cnvnator_vcf) .toList() .set { vcf_list } } else { - tiddit_vcf - .combine(manta_vcf) + manta_vcf .combine(gcnvcaller_vcf) - .combine(cnvnator_vcf) .toList() .set { vcf_list } } diff --git a/workflows/raredisease.nf b/workflows/raredisease.nf index 691d65b7..8dff53ab 100644 --- a/workflows/raredisease.nf +++ b/workflows/raredisease.nf @@ -695,28 +695,29 @@ workflow RAREDISEASE { ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ */ - RENAME_BAM_FOR_SMNCALLER(ch_mapped.genome_marked_bam, "bam").output - .collect{it} - .toList() - .set { ch_bam_list } - - RENAME_BAI_FOR_SMNCALLER(ch_mapped.genome_marked_bai, "bam.bai").output - .collect{it} - .toList() - .set { ch_bai_list } - - ch_case_info - .combine(ch_bam_list) - .combine(ch_bai_list) - .set { ch_bams_bais } - - SMNCOPYNUMBERCALLER ( - ch_bams_bais - ) - ch_versions = ch_versions.mix(RENAME_BAM_FOR_SMNCALLER.out.versions) - ch_versions = ch_versions.mix(RENAME_BAI_FOR_SMNCALLER.out.versions) - ch_versions = ch_versions.mix(SMNCOPYNUMBERCALLER.out.versions) - + if ( params.analysis_type.equals("wgs") ) { + RENAME_BAM_FOR_SMNCALLER(ch_mapped.genome_marked_bam, "bam").output + .collect{it} + .toList() + .set { ch_bam_list } + + RENAME_BAI_FOR_SMNCALLER(ch_mapped.genome_marked_bai, "bam.bai").output + .collect{it} + .toList() + .set { ch_bai_list } + + ch_case_info + .combine(ch_bam_list) + .combine(ch_bai_list) + .set { ch_bams_bais } + + SMNCOPYNUMBERCALLER ( + ch_bams_bais + ) + ch_versions = ch_versions.mix(RENAME_BAM_FOR_SMNCALLER.out.versions) + ch_versions = ch_versions.mix(RENAME_BAI_FOR_SMNCALLER.out.versions) + ch_versions = ch_versions.mix(SMNCOPYNUMBERCALLER.out.versions) + } /* ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ PEDDY @@ -735,7 +736,7 @@ workflow RAREDISEASE { Generate CGH files from sequencing data ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ */ - if ( !params.skip_vcf2cytosure && params.analysis_type != "wes" ) { + if ( !params.skip_vcf2cytosure && params.analysis_type.equals("wgs") ) { GENERATE_CYTOSURE_FILES ( ch_sv_annotate.vcf_ann, ch_sv_annotate.tbi, @@ -751,7 +752,7 @@ workflow RAREDISEASE { GENS ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ */ - if ( !params.skip_gens && params.analysis_type != "wes" ) { + if ( !params.skip_gens && params.analysis_type.equals("wgs") ) { GENS ( ch_mapped.genome_bam_bai, CALL_SNV.out.genome_gvcf,