nf-core · ramprasadn · Jan 15, 2025 · Jan 15, 2025 · Jan 15, 2025 · Jan 15, 2025
diff --git a/conf/test_full.config b/conf/test_full.config
@@ -14,28 +14,43 @@ params {
     config_profile_name        = 'Full test profile'
     config_profile_description = 'Full test dataset to check pipeline function'
 
-    // Input data for full size test
-    input           = params.pipelines_testdata_base_path + 'raredisease/testdata/samplesheet_full.csv'
-    intervals_wgs   = params.pipelines_testdata_base_path + 'raredisease/reference/test_full/genome.interval_list'
-    intervals_y     = params.pipelines_testdata_base_path + 'raredisease/reference/test_full/genomeY.interval_list'
-    target_bed      = params.pipelines_testdata_base_path + 'raredisease/reference/test_full/target.bed'
-    variant_catalog = params.pipelines_testdata_base_path + 'raredisease/reference/test_full/variant_catalog_hg38.json'
 
-    // Genome references
-    genome = 'GRCh38'
+    // reference params
+    igenomes_ignore = true
+    mito_name       = 'MT'
 
-    // Skip annotation
-    skip_mt_annotation  = true
-    skip_snv_annotation = true
-    skip_sv_annotation  = true
-}
+    // analysis params
+    skip_germlinecnvcaller = true
+    skip_peddy             = true
 
-process {
-    withName: 'MARKDUPLICATES' {
-        memory          = { check_max( 90.GB * task.attempt, 'memory' ) }
-    }
-    withName: 'DEEPVARIANT' {
-        cpus            = 24
-        memory          = { check_max( 90.GB * task.attempt, 'memory' ) }
-    }
+    // Input data
+    input          = params.pipelines_testdata_base_path + 'raredisease/testdata/samplesheet_trio.csv'
+
+    // Genome references
+    fasta                = params.pipelines_testdata_base_path + 'raredisease/reference/reference.fasta'
+    fai                  = params.pipelines_testdata_base_path + 'raredisease/reference/reference.fasta.fai'
+    genome               = 'GRCh37'
+    gnomad_af            = params.pipelines_testdata_base_path + 'raredisease/reference/gnomad_reformated.tab.gz'
+    intervals_wgs        = params.pipelines_testdata_base_path + 'raredisease/reference/target_wgs.interval_list'
+    intervals_y          = params.pipelines_testdata_base_path + 'raredisease/reference/targetY.interval_list'
+    known_dbsnp          = params.pipelines_testdata_base_path + 'raredisease/reference/dbsnp_-138-.vcf.gz'
+    ml_model             = 'https://s3.amazonaws.com/sentieon-release/other/SentieonDNAscopeModel1.1.model'
+    mobile_element_references       = params.pipelines_testdata_base_path + 'raredisease/reference/mobile_element_references.tsv'
+    mobile_element_svdb_annotations = params.pipelines_testdata_base_path + 'raredisease/reference/svdb_querydb_files.csv'
+    reduced_penetrance   = params.pipelines_testdata_base_path + 'raredisease/reference/reduced_penetrance.tsv'
+    score_config_mt      = params.pipelines_testdata_base_path + 'raredisease/reference/rank_model_snv.ini'
+    score_config_snv     = params.pipelines_testdata_base_path + 'raredisease/reference/rank_model_snv.ini'
+    score_config_sv      = params.pipelines_testdata_base_path + 'raredisease/reference/rank_model_sv.ini'
+    svdb_query_dbs       = params.pipelines_testdata_base_path + 'raredisease/reference/svdb_querydb_files.csv'
+    target_bed           = params.pipelines_testdata_base_path + 'raredisease/reference/target.bed'
+    variant_catalog      = params.pipelines_testdata_base_path + 'raredisease/reference/variant_catalog.json'
+    vcfanno_lua          = params.pipelines_testdata_base_path + 'raredisease/reference/vcfanno_functions.lua'
+    vcfanno_resources    = params.pipelines_testdata_base_path + 'raredisease/reference/vcfanno_resources.txt'
+    vcfanno_toml         = params.pipelines_testdata_base_path + 'raredisease/reference/vcfanno_config.toml'
+    variant_consequences_snv = params.pipelines_testdata_base_path + 'raredisease/reference/variant_consequences_v2.txt'
+    variant_consequences_sv  = params.pipelines_testdata_base_path + 'raredisease/reference/variant_consequences_v2.txt'
+    vep_cache            = params.pipelines_testdata_base_path + 'raredisease/reference/vep_cache_and_plugins.tar.gz'
+    vep_filters          = params.pipelines_testdata_base_path + 'raredisease/reference/hgnc.txt'
+    vep_cache_version    = 107
+    vep_plugin_files     = params.pipelines_testdata_base_path + 'raredisease/reference/vep_files.csv'
 }
diff --git a/lib/CustomFunctions.groovy b/lib/CustomFunctions.groovy
diff --git a/main.nf b/main.nf
@@ -34,14 +34,18 @@ workflow NFCORE_RAREDISEASE {
 
     take:
     samplesheet // channel: samplesheet read in from --input
+    samples
+    case_info
 
     main:
 
     //
     // WORKFLOW: Run pipeline
     //
     RAREDISEASE (
-        samplesheet
+        samplesheet,
+        samples,
+        case_info
     )
     emit:
     multiqc_report = RAREDISEASE.out.multiqc_report // channel: /path/to/multiqc_report.html
@@ -71,7 +75,9 @@ workflow {
     // WORKFLOW: Run main workflow
     //
     NFCORE_RAREDISEASE (
-        PIPELINE_INITIALISATION.out.samplesheet
+        PIPELINE_INITIALISATION.out.samplesheet,
+        PIPELINE_INITIALISATION.out.samples,
+        PIPELINE_INITIALISATION.out.case_info
     )
     //
     // SUBWORKFLOW: Run completion tasks

diff --git a/modules/local/add_most_severe_consequence.nf → ...local/add_most_severe_consequence/main.nf b/modules/local/add_most_severe_consequence.nf → ...local/add_most_severe_consequence/main.nf
diff --git a/modules/local/add_most_severe_pli.nf → modules/local/add_most_severe_pli/main.nf b/modules/local/add_most_severe_pli.nf → modules/local/add_most_severe_pli/main.nf
diff --git a/modules/local/add_varcallername_to_bed.nf → ...es/local/add_varcallername_to_bed/main.nf b/modules/local/add_varcallername_to_bed.nf → ...es/local/add_varcallername_to_bed/main.nf
diff --git a/modules/local/calculate_seed_fraction.nf → ...les/local/calculate_seed_fraction/main.nf b/modules/local/calculate_seed_fraction.nf → ...les/local/calculate_seed_fraction/main.nf
diff --git a/modules/local/create_bed_from_fai.nf → modules/local/create_bed_from_fai/main.nf b/modules/local/create_bed_from_fai.nf → modules/local/create_bed_from_fai/main.nf
diff --git a/modules/local/create_hgncids_file.nf → modules/local/create_hgncids_file/main.nf b/modules/local/create_hgncids_file.nf → modules/local/create_hgncids_file/main.nf
diff --git a/modules/local/create_pedigree_file.nf → modules/local/create_pedigree_file/main.nf b/modules/local/create_pedigree_file.nf → modules/local/create_pedigree_file/main.nf
diff --git a/modules/local/get_chrom_sizes.nf → modules/local/get_chrom_sizes/main.nf b/modules/local/get_chrom_sizes.nf → modules/local/get_chrom_sizes/main.nf
diff --git a/modules/local/mt_deletion_script.nf → modules/local/mt_deletion_script/main.nf b/modules/local/mt_deletion_script.nf → modules/local/mt_deletion_script/main.nf
diff --git a/modules/local/rename_align_files.nf → modules/local/rename_align_files/main.nf b/modules/local/rename_align_files.nf → modules/local/rename_align_files/main.nf
diff --git a/modules/local/replace_spaces_in_vcfinfo.nf → ...s/local/replace_spaces_in_vcfinfo/main.nf b/modules/local/replace_spaces_in_vcfinfo.nf → ...s/local/replace_spaces_in_vcfinfo/main.nf
diff --git a/modules/local/sentieon/tnscope.nf b/modules/local/sentieon/tnscope.nf
diff --git a/subworkflows/local/align.nf b/subworkflows/local/align.nf
@@ -3,12 +3,12 @@
 //
 
 include { FASTP                      } from '../../modules/nf-core/fastp/main'
-include { ALIGN_BWA_BWAMEM2_BWAMEME  } from './alignment/align_bwa_bwamem2_bwameme'
-include { ALIGN_SENTIEON             } from './alignment/align_sentieon'
+include { ALIGN_BWA_BWAMEM2_BWAMEME  } from './align_bwa_bwamem2_bwameme'
+include { ALIGN_SENTIEON             } from './align_sentieon'
 include { SAMTOOLS_VIEW              } from '../../modules/nf-core/samtools/view/main'
-include { ALIGN_MT                   } from './alignment/align_MT'
-include { ALIGN_MT as ALIGN_MT_SHIFT } from './alignment/align_MT'
-include { CONVERT_MT_BAM_TO_FASTQ    } from './mitochondria/convert_mt_bam_to_fastq'
+include { ALIGN_MT                   } from './align_MT'
+include { ALIGN_MT as ALIGN_MT_SHIFT } from './align_MT'
+include { CONVERT_MT_BAM_TO_FASTQ    } from './convert_mt_bam_to_fastq'
 
 workflow ALIGN {
     take:

diff --git a/subworkflows/local/alignment/align_MT.nf → subworkflows/local/align_MT/main.nf b/subworkflows/local/alignment/align_MT.nf → subworkflows/local/align_MT/main.nf
diff --git a/...al/alignment/align_bwa_bwamem2_bwameme.nf → ...s/local/align_bwa_bwamem2_bwameme/main.nf b/...al/alignment/align_bwa_bwamem2_bwameme.nf → ...s/local/align_bwa_bwamem2_bwameme/main.nf
diff --git a/...rkflows/local/alignment/align_sentieon.nf → subworkflows/local/align_sentieon/main.nf b/...rkflows/local/alignment/align_sentieon.nf → subworkflows/local/align_sentieon/main.nf
diff --git a/...rkflows/local/annotation/annotate_cadd.nf → subworkflows/local/annotate_cadd/main.nf b/...rkflows/local/annotation/annotate_cadd.nf → subworkflows/local/annotate_cadd/main.nf
diff --git a/subworkflows/local/annotate_genome_snvs.nf b/subworkflows/local/annotate_genome_snvs.nf
@@ -18,8 +18,8 @@ include { TABIX_TABIX as TABIX_VEP              } from '../../modules/nf-core/ta
 include { TABIX_TABIX as TABIX_BCFTOOLS_CONCAT  } from '../../modules/nf-core/tabix/tabix/main'
 include { TABIX_TABIX as TABIX_BCFTOOLS_VIEW    } from '../../modules/nf-core/tabix/tabix/main'
 include { GATK4_SELECTVARIANTS                  } from '../../modules/nf-core/gatk4/selectvariants/main'
-include { ANNOTATE_CADD                         } from './annotation/annotate_cadd'
-include { ANNOTATE_RHOCALLVIZ                   } from './annotation/annotate_rhocallviz'
+include { ANNOTATE_CADD                         } from './annotate_cadd'
+include { ANNOTATE_RHOCALLVIZ                   } from './annotate_rhocallviz'
 
 workflow ANNOTATE_GENOME_SNVS {
 

diff --git a/subworkflows/local/annotate_mt_snvs.nf b/subworkflows/local/annotate_mt_snvs.nf
@@ -8,7 +8,7 @@ include { TABIX_BGZIPTABIX as ZIP_TABIX_HMTNOTE_MT       } from '../../modules/n
 include { ENSEMBLVEP_VEP as ENSEMBLVEP_MT                } from '../../modules/nf-core/ensemblvep/vep/main'
 include { HAPLOGREP2_CLASSIFY as HAPLOGREP2_CLASSIFY_MT  } from '../../modules/nf-core/haplogrep2/classify/main'
 include { VCFANNO as VCFANNO_MT                          } from '../../modules/nf-core/vcfanno/main'
-include { ANNOTATE_CADD                                  } from './annotation/annotate_cadd'
+include { ANNOTATE_CADD                                  } from './annotate_cadd'
 include { TABIX_BGZIPTABIX as ZIP_TABIX_VCFANNO_MT       } from '../../modules/nf-core/tabix/bgziptabix/main'
 include { HMTNOTE_ANNOTATE                               } from '../../modules/nf-core/hmtnote/annotate/main'
 

diff --git a/...s/local/annotation/annotate_rhocallviz.nf → ...rkflows/local/annotate_rhocallviz/main.nf b/...s/local/annotation/annotate_rhocallviz.nf → ...rkflows/local/annotate_rhocallviz/main.nf
diff --git a/subworkflows/local/call_snv.nf b/subworkflows/local/call_snv.nf
@@ -2,11 +2,11 @@
 // call Single-nucleotide Varinats
 //
 
-include { CALL_SNV_DEEPVARIANT             } from './variant_calling/call_snv_deepvariant'
-include { CALL_SNV_SENTIEON                } from './variant_calling/call_snv_sentieon'
-include { CALL_SNV_MT                      } from './variant_calling/call_snv_MT'
-include { CALL_SNV_MT as CALL_SNV_MT_SHIFT } from './variant_calling/call_snv_MT'
-include { POSTPROCESS_MT_CALLS             } from './variant_calling/postprocess_MT_calls'
+include { CALL_SNV_DEEPVARIANT             } from './call_snv_deepvariant'
+include { CALL_SNV_SENTIEON                } from './call_snv_sentieon'
+include { CALL_SNV_MT                      } from './call_snv_MT'
+include { CALL_SNV_MT as CALL_SNV_MT_SHIFT } from './call_snv_MT'
+include { POSTPROCESS_MT_CALLS             } from './postprocess_MT_calls'
 include { GATK4_SELECTVARIANTS             } from '../../modules/nf-core/gatk4/selectvariants/main'
 
 workflow CALL_SNV {

diff --git a/...lows/local/variant_calling/call_snv_MT.nf → subworkflows/local/call_snv_MT/main.nf b/...lows/local/variant_calling/call_snv_MT.nf → subworkflows/local/call_snv_MT/main.nf
diff --git a/...l/variant_calling/call_snv_deepvariant.nf → ...kflows/local/call_snv_deepvariant/main.nf b/...l/variant_calling/call_snv_deepvariant.nf → ...kflows/local/call_snv_deepvariant/main.nf
diff --git a/...ocal/variant_calling/call_snv_sentieon.nf → subworkflows/local/call_snv_sentieon/main.nf b/...ocal/variant_calling/call_snv_sentieon.nf → subworkflows/local/call_snv_sentieon/main.nf
diff --git a/subworkflows/local/call_structural_variants.nf b/subworkflows/local/call_structural_variants.nf
@@ -2,12 +2,12 @@
 // A nested subworkflow to call structural variants.
 //
 
-include { CALL_SV_MANTA                  } from './variant_calling/call_sv_manta'
-include { CALL_SV_MT                     } from './variant_calling/call_sv_MT'
-include { CALL_SV_TIDDIT                 } from './variant_calling/call_sv_tiddit'
+include { CALL_SV_MANTA                  } from './call_sv_manta'
+include { CALL_SV_MT                     } from './call_sv_MT'
+include { CALL_SV_TIDDIT                 } from './call_sv_tiddit'
 include { SVDB_MERGE                     } from '../../modules/nf-core/svdb/merge/main'
-include { CALL_SV_GERMLINECNVCALLER      } from './variant_calling/call_sv_germlinecnvcaller'
-include { CALL_SV_CNVNATOR               } from './variant_calling/call_sv_cnvnator'
+include { CALL_SV_GERMLINECNVCALLER      } from './call_sv_germlinecnvcaller'
+include { CALL_SV_CNVNATOR               } from './call_sv_cnvnator'
 include { TABIX_TABIX                    } from '../../modules/nf-core/tabix/tabix/main'
 
 workflow CALL_STRUCTURAL_VARIANTS {

diff --git a/...flows/local/variant_calling/call_sv_MT.nf → subworkflows/local/call_sv_MT/main.nf b/...flows/local/variant_calling/call_sv_MT.nf → subworkflows/local/call_sv_MT/main.nf
diff --git a/...local/variant_calling/call_sv_cnvnator.nf → subworkflows/local/call_sv_cnvnator/main.nf b/...local/variant_calling/call_sv_cnvnator.nf → subworkflows/local/call_sv_cnvnator/main.nf
diff --git a/...iant_calling/call_sv_germlinecnvcaller.nf → ...s/local/call_sv_germlinecnvcaller/main.nf b/...iant_calling/call_sv_germlinecnvcaller.nf → ...s/local/call_sv_germlinecnvcaller/main.nf
diff --git a/...ws/local/variant_calling/call_sv_manta.nf → subworkflows/local/call_sv_manta/main.nf b/...ws/local/variant_calling/call_sv_manta.nf → subworkflows/local/call_sv_manta/main.nf
diff --git a/...s/local/variant_calling/call_sv_tiddit.nf → subworkflows/local/call_sv_tiddit/main.nf b/...s/local/variant_calling/call_sv_tiddit.nf → subworkflows/local/call_sv_tiddit/main.nf
diff --git a/...l/mitochondria/convert_mt_bam_to_fastq.nf → ...ows/local/convert_mt_bam_to_fastq/main.nf b/...l/mitochondria/convert_mt_bam_to_fastq.nf → ...ows/local/convert_mt_bam_to_fastq/main.nf
diff --git a/...l/variant_calling/postprocess_MT_calls.nf → ...kflows/local/postprocess_MT_calls/main.nf b/...l/variant_calling/postprocess_MT_calls.nf → ...kflows/local/postprocess_MT_calls/main.nf
diff --git a/subworkflows/local/utils_nfcore_raredisease_pipeline/main.nf b/subworkflows/local/utils_nfcore_raredisease_pipeline/main.nf
@@ -102,8 +102,19 @@ workflow PIPELINE_INITIALISATION {
         }
         .set { ch_samplesheet }
 
+    ch_samples   = ch_samplesheet.map { meta, fastqs ->
+                        new_id = meta.sample
+                        new_meta = meta - meta.subMap('lane', 'read_group') + [id:new_id]
+                        return new_meta
+                    }.unique()
+
+    ch_case_info = ch_samples.toList().map { createCaseChannel(it) }
+
+
     emit:
     samplesheet = ch_samplesheet
+    samples     = ch_samples
+    case_info   = ch_case_info
     versions    = ch_versions
 }
 
@@ -160,6 +171,44 @@ workflow PIPELINE_COMPLETION {
     FUNCTIONS
 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
 */
+
+def boolean isNonZeroNonEmpty(value) {
+        return (value instanceof String && value != "" && value != "0") ||
+                (value instanceof Number && value != 0)
+    }
+
+    // Function to get a list of metadata (e.g. case id) for the case [ meta ]
+def createCaseChannel(List rows) {
+    def case_info    = [:]
+    def probands     = [] as Set
+    def upd_children = [] as Set
+    def father       = ""
+    def mother       = ""
+
+    rows.each { item ->
+        if (item?.phenotype == 2) {
+            probands << item.sample
+        }
+        if (isNonZeroNonEmpty(item?.paternal) && isNonZeroNonEmpty(item?.maternal)) {
+            upd_children << item.sample
+        }
+        if (isNonZeroNonEmpty(item?.paternal)) {
+            father = item.paternal
+        }
+        if (isNonZeroNonEmpty(item?.maternal)) {
+            mother = item.maternal
+        }
+    }
+
+    case_info.father       = father
+    case_info.mother       = mother
+    case_info.probands     = probands.toList()
+    case_info.upd_children = upd_children.toList()
+    case_info.id           = rows[0].case_id
+
+    return case_info
+}
+
 //
 // Check and validate pipeline parameters
 //

diff --git a/workflows/raredisease.nf b/workflows/raredisease.nf
@@ -175,19 +175,14 @@ workflow RAREDISEASE {
 
     take:
     ch_samplesheet // channel: samplesheet read in from --input
+    ch_samples
+    ch_case_info
+
     main:
 
     ch_versions = Channel.empty()
     ch_multiqc_files = Channel.empty()
 
-    ch_samples   = ch_samplesheet.map { meta, fastqs ->
-                        new_id = meta.sample
-                        new_meta = meta - meta.subMap('lane', 'read_group') + [id:new_id]
-                        return new_meta
-                    }.unique()
-
-    ch_case_info = ch_samples.toList().map { CustomFunctions.createCaseChannel(it) }
-
     //
     // Initialize file channels for PREPARE_REFERENCES subworkflow
     //