diff --git a/.gitlab-ci.yml b/.gitlab-ci.yml index 067517c..58311b6 100644 --- a/.gitlab-ci.yml +++ b/.gitlab-ci.yml @@ -173,10 +173,10 @@ docker-run: - if: $MATRIX_NAME == "wf-human-phase_all" variables: - NF_BEFORE_SCRIPT: "wget -qO demo_data.tar.gz https://ont-exd-int-s3-euwst1-epi2me-labs.s3.amazonaws.com/wf-human-str/demo_data.tar.gz && tar -xzvf demo_data.tar.gz" + NF_BEFORE_SCRIPT: "wget -q -O demo_data.tar.gz https://ont-exd-int-s3-euwst1-epi2me-labs.s3.amazonaws.com/wf-human-variation/snp_demo.tar.gz && tar -xzvf demo_data.tar.gz" NF_PROCESS_FILES: "modules/local/wf-human-sv.nf modules/local/wf-human-snp.nf workflows/phasing.nf" NF_IGNORE_PROCESSES: "get_coverage,getVersions,getParams,failedQCReport,makeAlignmentReport,hap,phase_contig,post_clair_phase_contig,bed_filter" - NF_WORKFLOW_OPTS: "--mod false --cnv false --str false --sv --snp --joint_phasing --bam demo_data/demo.bam --ref demo_data/GCA_000001405.15_GRCh38_no_alt_analysis_set.fa.gz --sample_name demo --sex female --bam_min_coverage 0.00001 --annotation false" + NF_WORKFLOW_OPTS: "--mod false --cnv false --str false --sv --snp --joint_phasing --bam snp_demo/chr6_chr20.bam --bed snp_demo/chr6_chr20.bed --ref snp_demo/chr6_chr20.fasta --sample_name demo --sex female --bam_min_coverage 0.00001 --annotation false" aws-run: diff --git a/CHANGELOG.md b/CHANGELOG.md index c60eecc..44fe154 100755 --- a/CHANGELOG.md +++ b/CHANGELOG.md @@ -5,6 +5,10 @@ The format is based on [Keep a Changelog](https://keepachangelog.com/en/1.1.0/), and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0.html). +## [v1.9.2] +### Fixed +- `--joint_phasing` generating single-chromosome VCF files. + ## [v1.9.1] ### Changed - ClinVar annotation of SVs has been temporarily removed due to not being correctly incorporated. SnpEff annotations are still produced as part of the final SV VCF. diff --git a/nextflow.config b/nextflow.config index b00dcb4..05a8ea0 100755 --- a/nextflow.config +++ b/nextflow.config @@ -161,7 +161,7 @@ manifest { description = 'Basecalling, SNV calling, SV calling, modified base calling, CNV calling, and STR genotyping of human samples.' mainScript = 'main.nf' nextflowVersion = '>=23.04.2' - version = '1.9.1' + version = '1.9.2' } epi2melabs { diff --git a/workflows/phasing.nf b/workflows/phasing.nf index 0df70f5..951ef54 100644 --- a/workflows/phasing.nf +++ b/workflows/phasing.nf @@ -8,10 +8,18 @@ process phase_all { // Phase VCF for a contig cpus 4 input: - tuple path(snp_vcf, stageAs: "SNP/snp.vcf.gz"), path(snp_vcf_tbi, stageAs: "SNP/snp.vcf.gz.tbi") - tuple path(sv_vcf, stageAs: "SV/sv.vcf.gz"), path(sv_vcf_tbi, stageAs: "SV/sv.vcf.gz.tbi"), val(is_sv_vcf) - tuple path(ref), path(ref_idx), path(ref_cache), env(REF_PATH) - tuple val(contig), path(xam), path(xam_idx) + tuple val(contig), + path(xam), + path(xam_idx), + path(snp_vcf, stageAs: "SNP/snp.vcf.gz"), + path(snp_vcf_tbi, stageAs: "SNP/snp.vcf.gz.tbi"), + path(sv_vcf, stageAs: "SV/sv.vcf.gz"), + path(sv_vcf_tbi, stageAs: "SV/sv.vcf.gz.tbi"), + val(is_sv_vcf), + path(ref), + path(ref_idx), + path(ref_cache), + env(REF_PATH) output: path("phased_${contig}.vcf.gz"), emit: vcf path("phased_${contig}.vcf.gz.tbi"), emit: tbi @@ -95,7 +103,10 @@ workflow phasing { } // Phase everything - phase_all(clair_vcf, struct_vcf, reference_ch, haplotagged_bams) + haplotagged_bams + .combine(clair_vcf) + .combine(struct_vcf) + .combine(reference_ch) | phase_all // Collect phased files vcfs = phase_all.out.vcf.collect()