Workflows
This page documents all workflows in the pipeline.
Contents
- NFCORE_RNAVAR
- (entry) (entry point)
- RNAVAR
- BAM_STATS_SAMTOOLS
- FASTQ_ALIGN_STAR
- VCF_ANNOTATE_SNPEFF
- VCF_ANNOTATE_ENSEMBLVEP
- BAM_MARKDUPLICATES_PICARD
- BAM_SORT_STATS_SAMTOOLS
- PREPARE_ALIGNMENT
- SPLITNCIGAR
- RECALIBRATE
- DOWNLOAD_CACHE_SNPEFF_VEP
- PIPELINE_INITIALISATION
- PIPELINE_COMPLETION
- ANNOTATION_CACHE_INITIALISATION
- PREPARE_GENOME
- VCF_ANNOTATE_ALL
NFCORE_RNAVAR
Defined in main.nf:63
Inputs
| Name | Description |
|---|---|
samplesheet |
- |
align |
- |
Outputs
| Name | Description |
|---|---|
? |
- |
? |
- |
(entry)
Entry workflow
Defined in main.nf:211
RNAVAR
Defined in workflows/rnavar.nf:83
Main workflow for RNA variant calling analysis. This workflow performs end-to-end RNA-seq variant calling including:
- Quality control with FastQC
- Read alignment with STAR
- Duplicate marking with Picard
- Split N CIGAR reads for RNA-seq data
- Base quality score recalibration (BQSR)
- Variant calling with GATK HaplotypeCaller
- Variant filtering
- Variant annotation with SnpEff and VEP
- HLA typing with seq2HLA (optional) The workflow supports multiple input types including FASTQ, BAM, CRAM, and VCF files.
Inputs
| Name | Description |
|---|---|
input |
- |
bcftools_annotations |
- |
bcftools_annotations_tbi |
- |
bcftools_columns |
- |
bcftools_header_lines |
- |
dbsnp |
- |
dbsnp_tbi |
- |
dict |
- |
exon_bed |
- |
fasta |
- |
fasta_fai |
- |
gtf |
- |
known_sites |
- |
known_sites_tbi |
- |
star_index |
- |
snpeff_cache |
- |
snpeff_db |
- |
vep_genome |
- |
vep_species |
- |
vep_cache_version |
- |
vep_include_fasta |
- |
vep_cache |
- |
vep_extra_files |
- |
seq_center |
- |
seq_platform |
- |
aligner |
- |
bam_csi_index |
- |
extract_umi |
- |
generate_gvcf |
- |
skip_multiqc |
- |
skip_baserecalibration |
- |
skip_intervallisttools |
- |
skip_variantannotation |
- |
skip_variantfiltration |
- |
star_ignore_sjdbgtf |
- |
tools |
- |
Outputs
| Name | Description |
|---|---|
? |
- |
? |
- |
BAM_STATS_SAMTOOLS
Defined in subworkflows/nf-core/bam_stats_samtools/main.nf:9
Keywords: statistics, counts, bam, sam, cram
Produces comprehensive statistics from SAM/BAM/CRAM file
Components
This workflow uses the following modules/subworkflows:
samtools/statssamtools/idxstatssamtools/flagstat
Inputs
| Name | Description |
|---|---|
ch_bam_bai |
The input channel containing the BAM/CRAM and it's index Structure: [ val(meta), path(bam), path(bai) ] |
ch_fasta |
Reference genome fasta file Structure: [ path(fasta) ] |
Outputs
| Name | Description |
|---|---|
stats |
File containing samtools stats output Structure: [ val(meta), path(stats) ] |
flagstat |
File containing samtools flagstat output Structure: [ val(meta), path(flagstat) ] |
idxstats |
File containing samtools idxstats output Structure: [ val(meta), path(idxstats)] |
versions |
Files containing software versions Structure: [ path(versions.yml) ] |
Authors: @drpatelh Maintainers: @drpatelh
FASTQ_ALIGN_STAR
Defined in subworkflows/nf-core/fastq_align_star/main.nf:6
Keywords: align, fasta, genome, reference
Align reads to a reference genome using bowtie2 then sort with samtools
Components
This workflow uses the following modules/subworkflows:
star/alignsamtools/sortsamtools/indexsamtools/statssamtools/idxstatssamtools/flagstatbam_sort_stats_samtools
Inputs
| Name | Description |
|---|---|
ch_reads |
List of input FastQ files of size 1 and 2 for single-end and paired-end data, respectively. Structure: [ val(meta), [ path(reads) ] ] |
ch_index |
STAR genome index |
ch_gtf |
GTF file used to set the splice junctions with the --sjdbGTFfile flag |
val_star_ignore_sjdbgtf |
If true the --sjdbGTFfile flag is set |
val_seq_platform |
Sequencing platform to be added to the bam header using the --outSAMattrRGline flag |
val_seq_center |
Sequencing center to be added to the bam header using the --outSAMattrRGline flag |
ch_fasta |
Reference genome fasta file |
ch_transcripts_fasta |
Optional reference genome fasta file |
Outputs
| Name | Description |
|---|---|
orig_bam |
Output BAM file containing read alignments Structure: [ val(meta), path(bam) ] |
log_final |
STAR final log file Structure: [ val(meta), path(log_final) ] |
log_out |
STAR log out file Structure: [ val(meta), path(log_out) ] |
log_progress |
STAR log progress file Structure: [ val(meta), path(log_progress) ] |
bam_sorted |
Sorted BAM file of read alignments (optional) Structure: [ val(meta), path(bam) ] |
orig_bam_transcript |
Output BAM file of transcriptome alignment (optional) Structure: [ val(meta), path(bam) ] |
fastq |
Unmapped FastQ files (optional) Structure: [ val(meta), path(fastq) ] |
tab |
STAR output tab file(s) (optional) Structure: [ val(meta), path(tab) ] |
bam |
BAM file ordered by samtools Structure: [ val(meta), path(bam) ] |
bai |
BAI index of the ordered BAM file Structure: [ val(meta), path(bai) ] |
stats |
File containing samtools stats output Structure: [ val(meta), path(stats) ] |
flagstat |
File containing samtools flagstat output Structure: [ val(meta), path(flagstat) ] |
idxstats |
File containing samtools idxstats output Structure: [ val(meta), path(idxstats) ] |
bam_transcript |
Transcriptome-level BAM file ordered by samtools (optional) Structure: [ val(meta), path(bam) ] |
bai_transcript |
Transcriptome-level BAI index of the ordered BAM file (optional) Structure: [ val(meta), path(bai) ] |
stats_transcript |
Transcriptome-level file containing samtools stats output (optional) Structure: [ val(meta), path(stats) ] |
flagstat_transcript |
Transcriptome-level file containing samtools flagstat output (optional) Structure: [ val(meta), path(flagstat) ] |
idxstats_transcript |
Transcriptome-level file containing samtools idxstats output (optional) Structure: [ val(meta), path(idxstats) ] |
versions |
File containing software versions |
Authors: @JoseEspinosa Maintainers: @JoseEspinosa
VCF_ANNOTATE_SNPEFF
Defined in subworkflows/nf-core/vcf_annotate_snpeff/main.nf:8
Keywords: vcf, annotation, snpeff
Perform annotation with snpEff and bgzip + tabix index the resulting VCF file
Components
This workflow uses the following modules/subworkflows:
snpeffsnpeff/snpefftabix/bgziptabix
Inputs
| Name | Description |
|---|---|
ch_vcf |
vcf file Structure: [ val(meta), path(vcf) ] |
val_snpeff_db |
db version to use |
ch_snpeff_cache |
path to root cache folder for snpEff (optional) Structure: [ path(cache) ] |
Outputs
| Name | Description |
|---|---|
vcf_tbi |
Compressed vcf file + tabix index Structure: [ val(meta), path(vcf), path(tbi) ] |
reports |
html reports Structure: [ path(html) ] |
summary |
html reports Structure: [ path(csv) ] |
genes_txt |
html reports Structure: [ path(txt) ] |
versions |
Files containing software versions Structure: [ path(versions.yml) ] |
Authors: @maxulysse Maintainers: @maxulysse
VCF_ANNOTATE_ENSEMBLVEP
Defined in subworkflows/nf-core/vcf_annotate_ensemblvep/main.nf:8
Keywords: vcf, annotation, ensemblvep
Perform annotation with ensemblvep and bgzip + tabix index the resulting VCF file
Components
This workflow uses the following modules/subworkflows:
ensemblvep/veptabix/tabix
Inputs
| Name | Description |
|---|---|
ch_vcf |
vcf file to annotate Structure: [ val(meta), path(vcf), [path(custom_file1), path(custom_file2)... (optional)] ] |
ch_fasta |
Reference genome fasta file (optional) Structure: [ val(meta2), path(fasta) ] |
val_genome |
genome to use |
val_species |
species to use |
val_cache_version |
cache version to use |
ch_cache |
the root cache folder for ensemblvep (optional) Structure: [ val(meta3), path(cache) ] |
ch_extra_files |
any extra files needed by plugins for ensemblvep (optional) Structure: [ path(file1), path(file2)... ] |
Outputs
| Name | Description |
|---|---|
vcf_tbi |
Compressed vcf file + tabix index Structure: [ val(meta), path(vcf), path(tbi) ] |
json |
json file Structure: [ val(meta), path(json) ] |
tab |
tab file Structure: [ val(meta), path(tab) ] |
reports |
html reports |
versions |
File containing software versions |
Authors: @maxulysse, @matthdsm, @nvnieuwk Maintainers: @maxulysse, @matthdsm, @nvnieuwk
BAM_MARKDUPLICATES_PICARD
Defined in subworkflows/nf-core/bam_markduplicates_picard/main.nf:9
Keywords: markduplicates, bam, sam, cram
Picard MarkDuplicates, index BAM file and run samtools stats, flagstat and idxstats
Components
This workflow uses the following modules/subworkflows:
picard/markduplicatessamtools/indexsamtools/statssamtools/idxstatssamtools/flagstatbam_stats_samtools
Inputs
| Name | Description |
|---|---|
ch_reads |
Sequence reads in BAM/CRAM/SAM format Structure: [ val(meta), path(reads) ] |
ch_fasta |
Reference genome fasta file required for CRAM input Structure: [ path(fasta) ] |
ch_fasta |
Index of the reference genome fasta file Structure: [ path(fai) ] |
Outputs
| Name | Description |
|---|---|
bam |
processed BAM/SAM file Structure: [ val(meta), path(bam) ] |
bai |
BAM/SAM samtools index Structure: [ val(meta), path(bai) ] |
cram |
processed CRAM file Structure: [ val(meta), path(cram) ] |
crai |
CRAM samtools index Structure: [ val(meta), path(crai) ] |
csi |
CSI samtools index Structure: [ val(meta), path(csi) ] |
stats |
File containing samtools stats output Structure: [ val(meta), path(stats) ] |
flagstat |
File containing samtools flagstat output Structure: [ val(meta), path(flagstat) ] |
idxstats |
File containing samtools idxstats output Structure: [ val(meta), path(idxstats) ] |
versions |
Files containing software versions Structure: [ path(versions.yml) ] |
Authors: @dmarron, @drpatelh Maintainers: @dmarron, @drpatelh
BAM_SORT_STATS_SAMTOOLS
Defined in subworkflows/nf-core/bam_sort_stats_samtools/main.nf:9
Keywords: sort, bam, sam, cram
Sort SAM/BAM/CRAM file
Components
This workflow uses the following modules/subworkflows:
samtools/sortsamtools/indexsamtools/statssamtools/idxstatssamtools/flagstatbam_stats_samtools
Inputs
| Name | Description |
|---|---|
meta |
Groovy Map containing sample information e.g. [ id:'test', single_end:false ] |
bam |
BAM/CRAM/SAM file |
fasta |
Reference genome fasta file |
Outputs
| Name | Description |
|---|---|
meta |
Groovy Map containing sample information e.g. [ id:'test', single_end:false ] |
bam |
Sorted BAM/CRAM/SAM file |
bai |
BAM/CRAM/SAM index file |
crai |
BAM/CRAM/SAM index file |
stats |
File containing samtools stats output |
flagstat |
File containing samtools flagstat output |
idxstats |
File containing samtools idxstats output |
versions |
File containing software versions |
Authors: @drpatelh, @ewels Maintainers: @drpatelh, @ewels
PREPARE_ALIGNMENT
Defined in subworkflows/local/prepare_alignment/main.nf:7
Inputs
| Name | Description |
|---|---|
cram |
- |
bam |
- |
Outputs
| Name | Description |
|---|---|
bam |
- |
versions |
- |
SPLITNCIGAR
Defined in subworkflows/local/splitncigar/main.nf:25
Split reads that contain N CIGAR operations for RNA-seq variant calling. This subworkflow handles the GATK SplitNCigarReads step which is essential for RNA-seq variant calling. It splits reads that span introns (N in CIGAR) and reassigns mapping qualities to meet GATK requirements. The workflow processes BAM files in parallel across genomic intervals, then merges and indexes the results for efficient downstream processing.
Inputs
| Name | Description |
|---|---|
bam |
- |
fasta |
- |
fai |
- |
dict |
- |
intervals |
- |
Outputs
| Name | Description |
|---|---|
bam_bai |
- |
versions |
- |
RECALIBRATE
Defined in subworkflows/local/recalibrate/main.nf:27
Apply base quality score recalibration (BQSR) to BAM files. This subworkflow applies the BQSR model generated by GATK BaseRecalibrator to adjust base quality scores in BAM files. Recalibrated quality scores improve the accuracy of variant calling by correcting systematic errors in the original quality scores assigned by the sequencing machine. Optionally generates alignment statistics using samtools stats for QC.
Inputs
| Name | Description |
|---|---|
skip_samtools |
- |
bam |
- |
dict |
- |
fai |
- |
fasta |
- |
Outputs
| Name | Description |
|---|---|
bam |
- |
qc |
- |
versions |
- |
DOWNLOAD_CACHE_SNPEFF_VEP
Defined in subworkflows/local/download_cache_snpeff_vep/main.nf:14
Inputs
| Name | Description |
|---|---|
ensemblvep_info |
- |
snpeff_info |
- |
Outputs
| Name | Description |
|---|---|
ensemblvep_cache |
- |
snpeff_cache |
- |
PIPELINE_INITIALISATION
Defined in subworkflows/local/utils_nfcore_rnavar_pipeline/main.nf:51
Initialize the nf-core/rnavar pipeline. Performs all setup tasks required before running the main workflow:
- Display version information if requested
- Validate parameters against the schema
- Check Conda channel configuration
- Parse and validate the input samplesheet
- Generate parameter summary for logging
Inputs
| Name | Description |
|---|---|
version |
- |
validate_params |
- |
nextflow_cli_args |
- |
outdir |
- |
input |
- |
help |
- |
help_full |
- |
show_hidden |
- |
Outputs
| Name | Description |
|---|---|
samplesheet |
- |
align |
- |
versions |
- |
PIPELINE_COMPLETION
Defined in subworkflows/local/utils_nfcore_rnavar_pipeline/main.nf:198
Handle pipeline completion tasks. Executes cleanup and notification tasks when the pipeline finishes:
- Send completion email with run summary
- Generate completion summary to stdout
- Send notifications to messaging platforms (Slack, Teams, etc.)
- Log error messages for failed runs
Inputs
| Name | Description |
|---|---|
email |
- |
email_on_fail |
- |
plaintext_email |
- |
outdir |
- |
monochrome_logs |
- |
hook_url |
- |
multiqc_report |
- |
Outputs
| Name | Description |
|---|---|
<none> |
- |
ANNOTATION_CACHE_INITIALISATION
Defined in subworkflows/local/annotation_cache_initialisation/main.nf:11
Inputs
| Name | Description |
|---|---|
snpeff_enabled |
- |
snpeff_cache |
- |
snpeff_db |
- |
vep_enabled |
- |
vep_cache |
- |
vep_species |
- |
vep_cache_version |
- |
vep_genome |
- |
vep_custom_args |
- |
help_message |
- |
Outputs
| Name | Description |
|---|---|
? |
- |
? |
- |
PREPARE_GENOME
Defined in subworkflows/local/prepare_genome/main.nf:22
Inputs
| Name | Description |
|---|---|
bcftools_annotations |
- |
bcftools_annotations_tbi |
- |
dbsnp |
- |
dbsnp_tbi |
- |
dict |
- |
exon_bed |
- |
fasta |
- |
fasta_fai |
- |
gff |
- |
gtf |
- |
known_indels |
- |
known_indels_tbi |
- |
star_index |
- |
feature_type |
- |
skip_exon_bed_check |
- |
align |
- |
Outputs
| Name | Description |
|---|---|
bcfann |
- |
bcfann_tbi |
- |
dbsnp |
- |
dbsnp_tbi |
- |
dict |
- |
exon_bed |
- |
fasta |
- |
fasta_fai |
- |
gtf |
- |
known_indels |
- |
known_indels_tbi |
- |
known_sites |
- |
known_sites_tbi |
- |
star_index |
- |
versions |
- |
VCF_ANNOTATE_ALL
Defined in subworkflows/local/vcf_annotate_all/main.nf:37
Annotate variants using multiple annotation tools. This subworkflow provides flexible variant annotation using one or more tools:
- SnpEff: Functional annotation and effect prediction
- VEP (Ensembl Variant Effect Predictor): Comprehensive variant annotation
- BCFtools annotate: Add custom annotations from external files
- Merge: Combined SnpEff + VEP annotation The tools to use are specified via the
toolsparameter as a comma-separated list (e.g., "snpeff,vep" or "merge").
Inputs
| Name | Description |
|---|---|
vcf |
- |
fasta |
- |
tools |
- |
snpeff_db |
- |
snpeff_cache |
- |
vep_genome |
- |
vep_species |
- |
vep_cache_version |
- |
vep_cache |
- |
vep_extra_files |
- |
bcftools_annotations |
- |
bcftools_annotations_index |
- |
bcftools_columns |
- |
bcftools_header_lines |
- |
Outputs
| Name | Description |
|---|---|
? |
- |
? |
- |
? |
- |
? |
- |
This pipeline was built with Nextflow. Documentation generated by nf-docs v0.1.0 on 2026-01-23 17:23:12 UTC.