Call and score variants from WGS/WES of rare disease patients.
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TOC
Introduction
nf-core/raredisease is a best-practice bioinformatic pipeline for calling and scoring variants from WGS/WES data from rare disease patients. This pipeline is heavily inspired by MIP .
The pipeline is built using Nextflow , a workflow tool to run tasks across multiple compute infrastructures in a very portable manner. It uses Docker/Singularity containers making installation trivial and results highly reproducible. The Nextflow DSL2 implementation of this pipeline uses one container per process which makes it much easier to maintain and update software dependencies. Where possible, these processes have been submitted to and installed from nf-core/modules in order to make them available to all nf-core pipelines, and to everyone within the Nextflow community!
On release, automated continuous integration tests run the pipeline on a full-sized dataset on the AWS cloud infrastructure. This ensures that the pipeline runs on AWS, has sensible resource allocation defaults set to run on real-world datasets, and permits the persistent storage of results to benchmark between pipeline releases and other analysis sources. The results obtained from the full-sized test can be viewed on the nf-core website .
Pipeline summary
1. Metrics:
2. Alignment:
3. Variant calling - SNV:
4. Variant calling - SV:
-
Copy number variant calling:
5. Annotation - SNV:
6. Annotation - SV:
7. Mitochondrial analysis:
8. Variant calling - repeat expansions:
9. Rank variants - SV and SNV:
Note that it is possible to include/exclude certain tools or steps.
Usage
Note If you are new to Nextflow and nf-core, please refer to this page on how to set-up Nextflow. Make sure to test your setup with
-profile test
before running the workflow on actual data.
First, prepare a samplesheet with your input data that looks as follows:
samplesheet.csv
:
sample,lane,fastq_1,fastq_2,sex,phenotype,paternal_id,maternal_id,case_id
hugelymodelbat,1,reads_1.fastq.gz,reads_2.fastq.gz,1,2,,,justhusky
Each row represents a fastq file (single-end) or a pair of fastq files (paired end).
Second, ensure that you have defined the path to reference files and parameters required for the type of analysis that you want to perform. More information about this can be found here .
Now, you can run the pipeline using:
nextflow run nf-core/raredisease \
-profile <docker/singularity/podman/shifter/charliecloud/conda/institute> \
--input samplesheet.csv \
--outdir <OUTDIR>
Warning: Please provide pipeline parameters via the CLI or Nextflow
-params-file
option. Custom config files including those provided by the-c
Nextflow option can be used to provide any configuration except for parameters ; see docs .
For more details and further functionality, please refer to the usage documentation and the parameter documentation .
Pipeline output
For more details about the output files and reports, please refer to the output documentation .
Credits
nf-core/raredisease was written in a collaboration between the Clinical Genomics nodes in Sweden, with major contributions from Ramprasad Neethiraj , Anders Jemt , Lucia Pena Perez , and Mei Wu at Clinical Genomics Stockholm.
Additional contributors were Sima Rahimi , Gwenna Breton and Emma Västerviga (Clinical Genomics Gothenburg); Halfdan Rydbeck and Lauri Mesilaakso (Clinical Genomics Linköping); Subazini Thankaswamy Kosalai (Clinical Genomics Örebro); Annick Renevey and Peter Pruisscher (Clinical Genomics Stockholm); Ryan Kennedy (Clinical Genomics Lund); Anders Sune Pedersen (Danish National Genome Center) and Lucas Taniguti .
We thank the nf-core community for their extensive assistance in the development of this pipeline.
Contributions and Support
If you would like to contribute to this pipeline, please see the contributing guidelines .
For further information or help, don't hesitate to get in touch on the
Slack
#raredisease
channel
(you can join with
this invite
).
Citations
If you use nf-core/raredisease for your analysis, please cite it using the following doi: 10.5281/zenodo.7995798
An extensive list of references for the tools used by the pipeline can be found in the
CITATIONS.md
file.
You can cite the
nf-core
publication as follows:
The nf-core framework for community-curated bioinformatics pipelines.
Philip Ewels, Alexander Peltzer, Sven Fillinger, Harshil Patel, Johannes Alneberg, Andreas Wilm, Maxime Ulysse Garcia, Paolo Di Tommaso & Sven Nahnsen.
Nat Biotechnol. 2020 Feb 13. doi: 10.1038/s41587-020-0439-x .
You can read more about MIP's use in healthcare in,
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, et al. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med. 2021;13(1):40. doi:10.1186/s13073-021-00855-5
Code Snippets
24 25 26 27 28 29 30 31 32 | """ add_most_severe_consequence.py --file_in ${vcf} --file_out ${prefix}.vcf --variant_csq ${variant_consequences} cat <<-END_VERSIONS > versions.yml "${task.process}": add_most_severe_consequence: v1.0 python: \$(python --version | sed 's/Python //g') END_VERSIONS """ |
36 37 38 39 40 41 42 43 44 | """ touch ${prefix}_csq.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": add_most_severe_consequence: v1.0 python: \$(python --version | sed 's/Python //g') END_VERSIONS """ |
23 24 25 26 27 28 29 30 31 | """ add_most_severe_pli.py --file_in ${vcf} --file_out ${prefix}.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": add_most_severe_pli: v1.0 python: \$(python --version | sed 's/Python //g') END_VERSIONS """ |
35 36 37 38 39 40 41 42 43 | """ touch ${prefix}_pli.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": add_most_severe_pli: v1.0 python: \$(python --version | sed 's/Python //g') END_VERSIONS """ |
21 22 23 24 25 26 27 28 | """ awk 'BEGIN {SEP="\t"}; {print \$1 SEP "0" SEP \$2}' ${fasta_fai} > ${fasta_fai.baseName}.bed cat <<-END_VERSIONS > versions.yml "${task.process}": gawk: \$(awk -Wversion | sed '1!d; s/.*Awk //; s/,.*//') END_VERSIONS """ |
31 32 33 34 35 36 37 38 | """ touch chr.bed cat <<-END_VERSIONS > versions.yml "${task.process}": gawk: \$(awk -Wversion | sed '1!d; s/.*Awk //; s/,.*//') END_VERSIONS """ |
43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 | """ vep \\ -i $vcf \\ -o ${prefix}.${file_extension}${compress_out} \\ $args \\ $reference \\ --assembly $genome \\ --species $species \\ --cache \\ --cache_version $cache_version \\ --dir_cache $dir_cache \\ --fork $task.cpus \\ ${stats_file} cat <<-END_VERSIONS > versions.yml "${task.process}": ensemblvep: \$( echo \$(vep --help 2>&1) | sed 's/^.*Versions:.*ensembl-vep : //;s/ .*\$//') END_VERSIONS """ |
66 67 68 69 70 71 72 73 74 75 76 77 78 79 | """ touch ${prefix}.vcf touch ${prefix}.tab touch ${prefix}.json touch ${prefix}.vcf.gz touch ${prefix}.tab.gz touch ${prefix}.json.gz touch ${prefix}.summary.html cat <<-END_VERSIONS > versions.yml "${task.process}": ensemblvep: \$( echo \$(vep --help 2>&1) | sed 's/^.*Versions:.*ensembl-vep : //;s/ .*\$//') END_VERSIONS """ |
25 26 27 28 29 30 31 32 33 34 35 36 37 | """ filter_vep \\ --format vcf \\ --input_file $vcf \\ --output_file ${prefix}.ann_filter.vcf.gz \\ --only_matched \\ --filter \"HGNC_ID in ${select_feature_file}\" cat <<-END_VERSIONS > versions.yml "${task.process}": ensemblvep: \$( echo \$(vep --help 2>&1) | sed 's/^.*Versions:.*ensembl-vep : //;s/ .*\$//') END_VERSIONS """ |
41 42 43 44 45 46 47 48 | """ touch ${prefix}.ann_filter.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": ensemblvep: \$( echo \$(vep --help 2>&1) | sed 's/^.*Versions:.*ensembl-vep : //;s/ .*\$//') END_VERSIONS """ |
30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 | """ gatk --java-options "-Xmx${avail_mem}M" CollectReadCounts \\ -I $bam \\ --read-index $bai \\ -R $fasta \\ -L $interval_list \\ -O ${prefix}.hdf5 \\ $args \\ --tmp-dir . cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
48 49 50 51 52 53 54 55 | """ touch ${prefix}.hdf5 cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
28 29 30 31 32 33 34 35 36 37 38 39 40 41 | """ gatk --java-options "-Xmx${avail_mem}M" DenoiseReadCounts \\ -I $read_counts \\ --count-panel-of-normals $panel_of_normals \\ --standardized-copy-ratios ${prefix}.standardizedCR.tsv \\ --denoised-copy-ratios ${prefix}.denoisedCR.tsv \\ $args \\ --tmp-dir . cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
45 46 47 48 49 50 51 52 53 | """ touch ${prefix}.standardizedCR.tsv touch ${prefix}.denoisedCR.tsv cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
19 20 21 22 23 24 25 26 27 28 29 30 | """ generate_gens_data.pl \\ $read_counts \\ $vcf \\ $prefix \\ $gnomad_positions cat <<-END_VERSIONS > versions.yml "${task.process}": generate_gens_data.pl: \$(echo \$(generate_gens_data.pl --version 2>&1)) END_VERSIONS """ |
34 35 36 37 38 39 40 41 42 43 44 | """ touch ${prefix}.baf.bed.gz touch ${prefix}.baf.bed.gz.tbi touch ${prefix}.cov.bed.gz touch ${prefix}.cov.bed.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": generate_gens_data.pl: \$(echo \$(generate_gens_data.pl --version 2>&1)) END_VERSIONS """ |
21 22 23 24 25 26 27 28 | """ cut -f 1,2 $fai > ${fai}.sizes cat <<-END_VERSIONS > versions.yml "${task.process}": cut: \$(echo \$(cut --help 2>&1 | head -n 1 | cut -f1,2 -d' ')) END_VERSIONS """ |
26 27 28 29 30 31 32 33 34 35 36 | """ samtools stats --threads ${task.cpus} $args ${reference} ${input} | \\ grep -E ^IS | \\ awk 'BEGIN {sum=0} (\$2>=1200 && \$2<=15000) {sum=sum+\$3} (\$2<1200 || \$2>15000) {sum_norm=sum_norm+\$3} END \\ {print "intermediate discordant ", sum, "normal ", sum_norm, "ratio ppk", sum*1000/(sum_norm+sum)}' 1> ${prefix}.txt cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
40 41 42 43 44 45 46 47 | """ touch ${prefix}_mt_del.txt cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
21 22 23 24 25 26 27 28 29 30 | """ check_samplesheet.py \\ $samplesheet \\ samplesheet.valid.csv cat <<-END_VERSIONS > versions.yml "${task.process}": python: \$(python --version | sed 's/Python //g') END_VERSIONS """ |
33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 | """ if [ \${SENTIEON_LICENSE_BASE64:-"unset"} != "unset" ]; then echo "Initializing SENTIEON_LICENSE env variable" source sentieon_init.sh SENTIEON_LICENSE_BASE64 fi sentieon driver \\ -t ${task.cpus} \\ -r $fasta \\ $args \\ $input \\ --algo QualCal \\ $dbsnp \\ ${prefix}.table sentieon driver \\ -t ${task.cpus} \\ -r $fasta \\ $args2 \\ $input \\ -q ${prefix}.table \\ --algo QualCal \\ $dbsnp \\ ${prefix}.table_post \\ --algo ReadWriter ${prefix}.bam sentieon driver \\ -t ${task.cpus} \\ $args3 \\ --algo QualCal \\ --plot \\ --before ${prefix}.table \\ --after ${prefix}.table_post \\ ${prefix}.csv cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
76 77 78 79 80 81 82 83 84 85 86 87 | """ touch ${prefix}.bam touch ${prefix}.bam.bai touch ${prefix}.table touch ${prefix}.table_post touch ${prefix}.csv cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 | """ mkdir bwa if [ \${SENTIEON_LICENSE_BASE64:-"unset"} != "unset" ]; then echo "Initializing SENTIEON_LICENSE env variable" source sentieon_init.sh SENTIEON_LICENSE_BASE64 fi sentieon bwa index \\ $args \\ -p $prefix \\ $fasta cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") bwa: \$(echo \$(sentieon bwa 2>&1) | sed 's/^.*Version: //; s/Contact:.*\$//') END_VERSIONS """ |
42 43 44 45 46 47 48 49 50 | """ mkdir bwa cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") bwa: \$(echo \$(sentieon bwa 2>&1) | sed 's/^.*Version: //; s/Contact:.*\$//') END_VERSIONS """ |
26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 | """ INDEX=`find -L ./ -name "*.amb" | sed 's/.amb//'` if [ \${SENTIEON_LICENSE_BASE64:-"unset"} != "unset" ]; then echo "Initializing SENTIEON_LICENSE env variable" source sentieon_init.sh SENTIEON_LICENSE_BASE64 fi sentieon bwa mem \\ -t $task.cpus \\ \$INDEX \\ $reads \\ $args \\ | sentieon \\ util \\ sort \\ -r $fasta \\ -o ${prefix}.bam \\ -t $task.cpus \\ $args2 \\ --sam2bam \\ -i - cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") bwa: \$(echo \$(sentieon bwa 2>&1) | sed 's/^.*Version: //; s/Contact:.*\$//') END_VERSIONS """ |
58 59 60 61 62 63 64 65 66 67 | """ touch ${prefix}.bam touch ${prefix}.bai cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") bwa: \$(echo \$(sentieon bwa 2>&1) | sed 's/^.*Version: //; s/Contact:.*\$//') END_VERSIONS """ |
29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 | """ if [ \${SENTIEON_LICENSE_BASE64:-"unset"} != "unset" ]; then echo "Initializing SENTIEON_LICENSE env variable" source sentieon_init.sh SENTIEON_LICENSE_BASE64 fi sentieon \\ driver \\ -t $task.cpus \\ -r $fasta \\ $input \\ $args \\ --algo GCBias --summary ${prefix}_gc_summary.txt ${prefix}_gc_metrics.txt \\ --algo MeanQualityByCycle ${prefix}_mq_metrics.txt \\ --algo QualDistribution ${prefix}_qd_metrics.txt \\ --algo InsertSizeMetricAlgo ${prefix}_is_metrics.txt \\ --algo AlignmentStat ${prefix}_aln_metrics.txt cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
55 56 57 58 59 60 61 62 63 64 65 66 67 | """ touch ${prefix}_mq_metrics.txt touch ${prefix}_qd_metrics.txt touch ${prefix}_gc_summary.txt touch ${prefix}_gc_metrics.txt touch ${prefix}_aln_metrics.txt touch ${prefix}_is_metrics.txt cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 | """ if [ \${SENTIEON_LICENSE_BASE64:-"unset"} != "unset" ]; then echo "Initializing SENTIEON_LICENSE env variable" source sentieon_init.sh SENTIEON_LICENSE_BASE64 fi sentieon \\ driver \\ -t $task.cpus \\ $input \\ $args \\ --algo Dedup \\ --score_info $score \\ --metrics ${prefix}_metrics.txt \\ ${prefix}.bam cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
50 51 52 53 54 55 56 57 58 59 | """ touch ${prefix}.bam touch ${prefix}.bam.bai touch ${prefix}_metrics.txt cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
24 25 26 27 28 29 30 31 32 33 34 35 36 37 | """ sentieon driver \\ -t $task.cpus \\ -r $fasta \\ --algo DNAModelApply \\ --model $ml_model \\ -v $vcf \\ ${prefix}.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
41 42 43 44 45 46 47 48 49 | """ touch ${prefix}.vcf.gz touch ${prefix}.vcf.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g" ) END_VERSIONS """ |
32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 | """ sentieon driver \\ -t $task.cpus \\ -r $fasta \\ $args \\ -i $bam \\ --algo DNAscope \\ $dbsnp \\ $interval \\ $args2 \\ $model \\ ${prefix}.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
53 54 55 56 57 58 59 60 61 | """ touch ${prefix}.vcf.gz touch ${prefix}.vcf.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g" ) END_VERSIONS """ |
22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 | """ if [ \${SENTIEON_LICENSE_BASE64:-"unset"} != "unset" ]; then echo "Initializing SENTIEON_LICENSE env variable" source sentieon_init.sh SENTIEON_LICENSE_BASE64 fi sentieon \\ driver \\ -t $task.cpus \\ $input \\ --algo LocusCollector \\ --fun score_info $prefix cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
43 44 45 46 47 48 49 50 51 | """ touch ${prefix}.txt.gz touch ${prefix}.txt.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 | """ if [ \${SENTIEON_LICENSE_BASE64:-"unset"} != "unset" ]; then echo "Initializing SENTIEON_LICENSE env variable" source sentieon_init.sh SENTIEON_LICENSE_BASE64 fi sentieon \\ driver \\ -t $task.cpus \\ $input \\ --algo ReadWriter \\ ${prefix}.bam cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
45 46 47 48 49 50 51 52 53 | """ touch ${prefix}.bam touch ${prefix}.bam.bai cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 | """ if [ \${SENTIEON_LICENSE_BASE64:-"unset"} != "unset" ]; then echo "Initializing SENTIEON_LICENSE env variable" source sentieon_init.sh SENTIEON_LICENSE_BASE64 fi sentieon \\ driver \\ -t $task.cpus \\ -r $fasta \\ $input \\ $interval \\ $args \\ --algo WgsMetricsAlgo ${prefix}.txt cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
49 50 51 52 53 54 55 56 | """ touch ${prefix}_wgs_metrics.txt cat <<-END_VERSIONS > versions.yml "${task.process}": sentieon: \$(echo \$(sentieon driver --version 2>&1) | sed -e "s/sentieon-genomics-//g") END_VERSIONS """ |
31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 | """ bcftools \\ annotate \\ $args \\ $annotations_file \\ $header_file \\ --output ${prefix}.${extension} \\ --threads $task.cpus \\ $input cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$( bcftools --version |& sed '1!d; s/^.*bcftools //' ) END_VERSIONS """ |
55 56 57 58 59 60 61 62 | """ touch ${prefix}.${extension} cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$( bcftools --version |& sed '1!d; s/^.*bcftools //' ) END_VERSIONS """ |
23 24 25 26 27 28 29 30 31 32 33 34 | """ bcftools concat \\ --output ${prefix}.vcf.gz \\ $args \\ --threads $task.cpus \\ ${vcfs} cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
38 39 40 41 42 43 44 45 | """ touch ${prefix}.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
32 33 34 35 36 37 38 39 40 41 42 43 | """ bcftools filter \\ --output ${prefix}.${extension} \\ --threads ${task.cpus} \\ $args \\ $vcf cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
56 57 58 59 60 61 62 63 | """ touch ${prefix}.${extension} cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
34 35 36 37 38 39 40 41 42 43 44 45 46 | """ bcftools merge \\ $args \\ $regions \\ --threads $task.cpus \\ --output ${prefix}.${extension} \\ $vcfs cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
56 57 58 59 60 61 62 63 | """ touch ${prefix}.${extension} cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
30 31 32 33 34 35 36 37 38 39 40 41 42 | """ bcftools norm \\ --fasta-ref ${fasta} \\ --output ${prefix}.${extension}\\ $args \\ --threads $task.cpus \\ ${vcf} cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
52 53 54 55 56 57 58 59 | """ touch ${prefix}.${extension} cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 | """ bcftools \\ reheader \\ $update_sequences \\ $new_header \\ $args \\ --threads $task.cpus \\ $vcf \\ | bcftools view \\ $args2 \\ --output ${prefix}.${extension} cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
60 61 62 63 64 65 66 67 | """ touch ${prefix}.${extension} cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 | """ bcftools \\ roh \\ $args \\ $af_read \\ $gen_map \\ $reg_file \\ $samp_file \\ $targ_file \\ -o ${prefix}.roh \\ $vcf cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
53 54 55 56 57 58 59 60 | """ touch ${prefix}.roh cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 | """ bcftools view \\ --output ${prefix}.vcf.gz \\ ${regions_file} \\ ${targets_file} \\ ${samples_file} \\ $args \\ --threads $task.cpus \\ ${vcf} cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
47 48 49 50 51 52 53 54 | """ touch ${prefix}.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//') END_VERSIONS """ |
22 23 24 25 26 27 28 29 30 31 32 33 34 | """ mkdir bwa bwa \\ index \\ $args \\ -p bwa/${fasta.baseName} \\ $fasta cat <<-END_VERSIONS > versions.yml "${task.process}": bwa: \$(echo \$(bwa 2>&1) | sed 's/^.*Version: //; s/Contact:.*\$//') END_VERSIONS """ |
37 38 39 40 41 42 43 44 45 46 47 48 49 50 | """ mkdir bwa touch bwa/genome.amb touch bwa/genome.ann touch bwa/genome.bwt touch bwa/genome.pac touch bwa/genome.sa cat <<-END_VERSIONS > versions.yml "${task.process}": bwa: \$(echo \$(bwa 2>&1) | sed 's/^.*Version: //; s/Contact:.*\$//') END_VERSIONS """ |
22 23 24 25 26 27 28 29 30 31 32 33 | """ mkdir bwamem2 bwa-mem2 \\ index \\ $args \\ $fasta -p bwamem2/${fasta} cat <<-END_VERSIONS > versions.yml "${task.process}": bwamem2: \$(echo \$(bwa-mem2 version 2>&1) | sed 's/.* //') END_VERSIONS """ |
36 37 38 39 40 41 42 43 44 45 46 47 48 | """ mkdir bwamem2 touch bwamem2/${fasta}.0123 touch bwamem2/${fasta}.ann touch bwamem2/${fasta}.pac touch bwamem2/${fasta}.amb touch bwamem2/${fasta}.bwt.2bit.64 cat <<-END_VERSIONS > versions.yml "${task.process}": bwamem2: \$(echo \$(bwa-mem2 version 2>&1) | sed 's/.* //') END_VERSIONS """ |
27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 | """ INDEX=`find -L ./ -name "*.amb" | sed 's/\\.amb\$//'` bwa-mem2 \\ mem \\ $args \\ -t $task.cpus \\ \$INDEX \\ $reads \\ | samtools $samtools_command $args2 -@ $task.cpus -o ${prefix}.bam - cat <<-END_VERSIONS > versions.yml "${task.process}": bwamem2: \$(echo \$(bwa-mem2 version 2>&1) | sed 's/.* //') samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
47 48 49 50 51 52 53 54 | """ touch ${prefix}.bam cat <<-END_VERSIONS > versions.yml "${task.process}": bwamem2: \$(echo \$(bwa-mem2 version 2>&1) | sed 's/.* //') samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
31 32 33 34 35 36 37 38 39 40 41 | """ cadd.sh \\ -o ${prefix}.tsv.gz \\ $args \\ $vcf cat <<-END_VERSIONS > versions.yml "${task.process}": cadd: $VERSION END_VERSIONS """ |
47 48 49 50 51 52 53 54 | """ touch ${prefix}.tsv.gz cat <<-END_VERSIONS > versions.yml "${task.process}": cadd: $VERSION END_VERSIONS """ |
38 39 40 41 42 43 44 45 46 47 48 49 | """ $command1 \\ $args \\ ${file_list.join(' ')} \\ $command2 \\ > ${prefix} cat <<-END_VERSIONS > versions.yml "${task.process}": pigz: \$( pigz --version 2>&1 | sed 's/pigz //g' ) END_VERSIONS """ |
54 55 56 57 58 59 60 61 | """ touch $prefix cat <<-END_VERSIONS > versions.yml "${task.process}": pigz: \$( pigz --version 2>&1 | sed 's/pigz //g' ) END_VERSIONS """ |
51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 | """ chromograph \\ $args \\ $autozyg_param \\ $coverage_param \\ $exome_param \\ $fracsnp_param \\ $ideogram_param \\ $regions_param \\ $sites_param \\ --outd ${prefix} cat <<-END_VERSIONS > versions.yml "${task.process}": chromograph: \$(echo \$(chromograph --version 2>&1) | sed 's/chromograph //' ) END_VERSIONS """ |
87 88 89 90 91 92 93 94 | """ mkdir ${prefix} cat <<-END_VERSIONS > versions.yml "${task.process}": chromograph: \$(echo \$(chromograph --version 2>&1) | sed 's/chromograph //' ) END_VERSIONS """ |
33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 | """ /opt/deepvariant/bin/run_deepvariant \\ --ref=${fasta} \\ --reads=${input} \\ --output_vcf=${prefix}.vcf.gz \\ --output_gvcf=${prefix}.g.vcf.gz \\ ${args} \\ ${regions} \\ --intermediate_results_dir=. \\ --num_shards=${task.cpus} cat <<-END_VERSIONS > versions.yml "${task.process}": deepvariant: \$(echo \$(/opt/deepvariant/bin/run_deepvariant --version) | sed 's/^.*version //; s/ .*\$//' ) END_VERSIONS """ |
52 53 54 55 56 57 58 59 60 61 62 | """ touch ${prefix}.vcf.gz touch ${prefix}.vcf.gz.tbi touch ${prefix}.g.vcf.gz touch ${prefix}.g.vcf.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": deepvariant: \$(echo \$(/opt/deepvariant/bin/run_deepvariant --version) | sed 's/^.*version //; s/ .*\$//' ) END_VERSIONS """ |
30 31 32 33 34 35 36 37 38 39 40 41 42 43 | """ echo "$bam\t${prefix}" > infile.txt eKLIPse.py \\ -in infile.txt \\ -ref $ref_gb mv eKLIPse_*/eKLIPse_deletions.csv eKLIPse_deletions.csv mv eKLIPse_*/eKLIPse_genes.csv eKLIPse_genes.csv mv eKLIPse_*/eKLIPse_${prefix}.png eKLIPse_${prefix}.png cat <<-END_VERSIONS > versions.yml "${task.process}": eklipse: $VERSION END_VERSIONS """ |
48 49 50 51 52 53 54 55 56 57 | """ touch eKLIPse_deletions.csv touch eKLIPse_genes.csv touch eKLIPse_${prefix}.png cat <<-END_VERSIONS > versions.yml "${task.process}": eklipse: $VERSION END_VERSIONS """ |
29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 | """ ExpansionHunter \\ ${args} \\ --reads ${bam} \\ --output-prefix ${prefix} \\ --reference ${fasta} \\ --variant-catalog ${variant_catalog} bgzip --threads ${task.cpus} ${args2} ${prefix}.vcf bgzip --threads ${task.cpus} ${args2} ${prefix}.json cat <<-END_VERSIONS > versions.yml "${task.process}": expansionhunter: \$( echo \$(ExpansionHunter --version 2>&1) | sed 's/^.*ExpansionHunter v//') bgzip: \$(echo \$(bgzip -h 2>&1) | sed 's/^.*Version: //;s/Usage:.*//') END_VERSIONS """ |
49 50 51 52 53 54 55 56 57 58 | """ touch ${prefix}.vcf.gz touch ${prefix}.json.gz cat <<-END_VERSIONS > versions.yml "${task.process}": expansionhunter: \$( echo \$(ExpansionHunter --version 2>&1) | sed 's/^.*ExpansionHunter v//') bgzip: \$(echo \$(bgzip -h 2>&1) | sed 's/^.*Version: //;s/Usage:.*//') END_VERSIONS """ |
28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 | """ printf "%s %s\\n" $rename_to | while read old_name new_name; do [ -f "\${new_name}" ] || ln -s \$old_name \$new_name done fastqc \\ $args \\ --threads $task.cpus \\ $renamed_files cat <<-END_VERSIONS > versions.yml "${task.process}": fastqc: \$( fastqc --version | sed -e "s/FastQC v//g" ) END_VERSIONS """ |
46 47 48 49 50 51 52 53 54 | """ touch ${prefix}.html touch ${prefix}.zip cat <<-END_VERSIONS > versions.yml "${task.process}": fastqc: \$( fastqc --version | sed -e "s/FastQC v//g" ) END_VERSIONS """ |
31 32 33 34 35 36 37 38 39 40 41 42 43 | """ gatk --java-options "-Xmx${avail_mem}M" BedToIntervalList \\ --INPUT $bed \\ --OUTPUT ${prefix}.interval_list \\ --SEQUENCE_DICTIONARY $dict \\ --TMP_DIR . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
47 48 49 50 51 52 53 54 | """ touch ${prefix}.interval_list cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
39 40 41 42 43 44 45 46 47 48 49 50 51 52 | """ gatk --java-options "-Xmx${avail_mem}M" CollectReadCounts \\ --input $input \\ --intervals $intervals \\ --output ${prefix}.$extension \\ $reference \\ --tmp-dir . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
60 61 62 63 64 65 66 67 | """ touch ${prefix}.${extension} cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
29 30 31 32 33 34 35 36 37 38 39 40 | """ gatk --java-options "-Xmx${avail_mem}M" CreateSequenceDictionary \\ --REFERENCE $fasta \\ --URI $fasta \\ --TMP_DIR . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
43 44 45 46 47 48 49 50 | """ touch ${fasta.baseName}.dict cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 | """ gatk --java-options "-Xmx${avail_mem}M" DetermineGermlineContigPloidy \\ ${input_list} \\ --output ./ \\ --output-prefix ${prefix} \\ ${intervals} \\ ${exclude} \\ ${contig_ploidy} \\ ${model} \\ --tmp-dir . \\ ${args} cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
62 63 64 65 66 67 68 69 70 | """ touch ${prefix}-calls touch ${prefix}-model cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 | """ gatk --java-options "-Xmx${avail_mem}M" FilterMutectCalls \\ --variant $vcf \\ --output ${prefix}.vcf.gz \\ --reference $fasta \\ $orientationbias_command \\ $segmentation_command \\ $estimate_command \\ $table_command \\ --tmp-dir . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
60 61 62 63 64 65 66 67 68 69 | """ touch ${prefix}.vcf.gz touch ${prefix}.vcf.gz.tbi touch ${prefix}.vcf.gz.filteringStats.tsv cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 | """ gatk --java-options "-Xmx${avail_mem}g" GermlineCNVCaller \\ $input_list \\ $ploidy_command \\ $output_command \\ --output-prefix $prefix \\ $args \\ $intervals_command \\ $model_command cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
57 58 59 60 61 62 63 64 65 | """ mkdir -p ${prefix}-cnv-calls/${prefix}-calls mkdir -p ${prefix}-cnv-model/${prefix}-model cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 | """ mkdir ${prefix}_split gatk --java-options "-Xmx${avail_mem}M" IntervalListTools \\ --INPUT $intervals \\ --OUTPUT ${prefix}_split \\ --TMP_DIR . \\ $args python3 <<CODE import glob, os # The following python code snippet rename the output files into different name to avoid overwriting or name conflict intervals = sorted(glob.glob("*_split/*/*.interval_list")) for i, interval in enumerate(intervals): (directory, filename) = os.path.split(interval) newName = os.path.join(directory, str(i + 1) + filename) os.rename(interval, newName) CODE cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 | """ mkdir -p ${prefix}_split/temp_0001_of_6 mkdir -p ${prefix}_split/temp_0002_of_6 mkdir -p ${prefix}_split/temp_0003_of_6 mkdir -p ${prefix}_split/temp_0004_of_6 touch ${prefix}_split/temp_0001_of_6/1scattered.interval_list touch ${prefix}_split/temp_0002_of_6/2scattered.interval_list touch ${prefix}_split/temp_0003_of_6/3scattered.interval_list touch ${prefix}_split/temp_0004_of_6/4scattered.interval_list cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
32 33 34 35 36 37 38 39 40 41 42 43 44 45 | """ gatk --java-options "-Xmx${avail_mem}M" MergeBamAlignment \\ --UNMAPPED_BAM $unmapped \\ --ALIGNED_BAM $aligned \\ --OUTPUT ${prefix}.bam \\ --REFERENCE_SEQUENCE $fasta \\ --TMP_DIR . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
49 50 51 52 53 54 55 56 | """ touch ${prefix}.bam cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
34 35 36 37 38 39 40 41 42 43 44 45 46 | """ gatk --java-options "-Xmx${avail_mem}M" MergeVcfs \\ $input_list \\ --OUTPUT ${prefix}.vcf.gz \\ $reference_command \\ --TMP_DIR . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
50 51 52 53 54 55 56 57 58 | """ touch ${prefix}.vcf.gz touch ${prefix}.vcf.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 | """ gatk --java-options "-Xmx${avail_mem}M" Mutect2 \\ $inputs \\ --output ${prefix}.vcf.gz \\ --reference $fasta \\ $pon_command \\ $gr_command \\ $interval_command \\ --tmp-dir . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
63 64 65 66 67 68 69 70 71 72 73 | """ touch ${prefix}.vcf.gz touch ${prefix}.vcf.gz.tbi touch ${prefix}.vcf.gz.stats touch ${prefix}.f1r2.tar.gz cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
38 39 40 41 42 43 44 45 46 47 48 49 50 51 | """ gatk --java-options "-Xmx${avail_mem}g" PostprocessGermlineCNVCalls \\ $calls_command \\ $model_command \\ $ploidy_command \\ --output-genotyped-intervals ${prefix}_genotyped_intervals.vcf.gz \\ --output-genotyped-segments ${prefix}_genotyped_segments.vcf.gz \\ --output-denoised-copy-ratios ${prefix}_denoised.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
55 56 57 58 59 60 61 62 63 64 | """ touch ${prefix}_genotyped_intervals.vcf.gz touch ${prefix}_genotyped_segments.vcf.gz touch ${prefix}_denoised.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
37 38 39 40 41 42 43 44 45 46 47 48 49 | """ gatk --java-options "-Xmx${avail_mem}M" PreprocessIntervals \\ $include_command \\ $exclude_command \\ --reference $fasta \\ --output ${prefix}.interval_list \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
53 54 55 56 57 58 59 60 | """ touch ${prefix}.interval_list cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
38 39 40 41 42 43 44 45 46 47 48 49 50 | """ gatk --java-options "-Xmx${avail_mem}M" PrintReads \\ $args \\ --reference $fasta \\ --input $input \\ --read-index $index \\ --output ${prefix}.${input.getExtension()} cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
54 55 56 57 58 59 60 61 62 63 | """ touch ${prefix}.${input.getExtension()} touch ${prefix}.${input.getExtension()} touch ${prefix}.${input.getExtension()} cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
30 31 32 33 34 35 36 37 38 39 40 41 | """ gatk --java-options "-Xmx${avail_mem}M" RevertSam \\ --INPUT $bam \\ --OUTPUT ${prefix}.reverted.bam \\ --TMP_DIR . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
45 46 47 48 49 50 51 52 | """ touch ${prefix}.reverted.bam cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
31 32 33 34 35 36 37 38 39 40 41 42 | """ gatk --java-options "-Xmx${avail_mem}M" SamToFastq \\ --INPUT $bam \\ $output \\ --TMP_DIR . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
46 47 48 49 50 51 52 53 54 55 | """ touch ${prefix}.fastq.gz touch ${prefix}_1.fastq.gz touch ${prefix}_2.fastq.gz cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
32 33 34 35 36 37 38 39 40 41 42 43 44 | """ gatk --java-options "-Xmx${avail_mem}M" SelectVariants \\ --variant $vcf \\ --output ${prefix}.selectvariants.vcf.gz \\ $interval \\ --tmp-dir . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
48 49 50 51 52 53 54 55 56 | """ touch ${prefix}.selectvariants.vcf.gz touch ${prefix}.selectvariants.vcf.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
38 39 40 41 42 43 44 45 46 47 48 49 50 51 | """ gatk --java-options "-Xmx${avail_mem}M" ShiftFasta \\ --reference $fasta \\ --output ${prefix}_shift.fasta \\ --shift-back-output ${prefix}_shift.back_chain \\ $args \\ $seq_dict \\ --tmp-dir . cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
54 55 56 57 58 59 60 61 62 63 64 65 66 | """ touch test.intervals touch test_shift.back_chain touch test_shift.dict touch test.shifted.intervals touch test_shift.fasta touch test_shift.fasta.fai cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
34 35 36 37 38 39 40 41 42 43 44 45 46 | """ gatk --java-options "-Xmx${avail_mem}M" SplitIntervals \\ --output ${prefix} \\ --intervals $intervals \\ $reference \\ --tmp-dir . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
50 51 52 53 54 55 56 57 58 59 | """ mkdir ${prefix} touch ${prefix}/0000-scattered.interval_list touch ${prefix}/0001-scattered.interval_list cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
34 35 36 37 38 39 40 41 42 43 44 45 46 | """ gatk --java-options "-Xmx${avail_mem}M" VariantFiltration \\ --variant $vcf \\ --output ${prefix}.vcf.gz \\ --reference $fasta \\ --tmp-dir . \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
49 50 51 52 53 54 55 56 57 | """ touch ${prefix}.vcf.gz touch ${prefix}.vcf.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": gatk4: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') END_VERSIONS """ |
23 24 25 26 27 28 29 30 31 32 33 34 | """ genmod \\ annotate \\ $args \\ --outfile ${prefix}_annotate.vcf \\ $input_vcf cat <<-END_VERSIONS > versions.yml "${task.process}": genmod: \$(echo \$(genmod --version 2>&1) | sed 's/^.*genmod version: //' ) END_VERSIONS """ |
38 39 40 41 42 43 44 45 | """ touch ${prefix}_annotate.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": genmod: \$(echo \$(genmod --version 2>&1) | sed 's/^.*genmod version: //' ) END_VERSIONS """ |
23 24 25 26 27 28 29 30 31 32 33 34 35 | """ genmod \\ compound \\ $args \\ --processes ${task.cpus} \\ --outfile ${prefix}_compound.vcf \\ $input_vcf cat <<-END_VERSIONS > versions.yml "${task.process}": genmod: \$(echo \$(genmod --version 2>&1) | sed 's/^.*genmod version: //' ) END_VERSIONS """ |
39 40 41 42 43 44 45 46 | """ touch ${prefix}_compound.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": genmod: \$(echo \$(genmod --version 2>&1) | sed 's/^.*genmod version: //' ) END_VERSIONS """ |
27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 | """ genmod \\ models \\ $args \\ $pen_file \\ $family_file \\ --processes ${task.cpus} \\ --outfile ${prefix}_models.vcf \\ $input_vcf cat <<-END_VERSIONS > versions.yml "${task.process}": genmod: \$(echo \$(genmod --version 2>&1) | sed 's/^.*genmod version: //' ) END_VERSIONS """ |
45 46 47 48 49 50 51 52 | """ touch ${prefix}_models.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": genmod: \$(echo \$(genmod --version 2>&1) | sed 's/^.*genmod version: //' ) END_VERSIONS """ |
27 28 29 30 31 32 33 34 35 36 37 38 39 40 | """ genmod \\ score \\ $args \\ $family_file \\ $config_file \\ --outfile ${prefix}_score.vcf \\ $input_vcf cat <<-END_VERSIONS > versions.yml "${task.process}": genmod: \$(echo \$(genmod --version 2>&1) | sed 's/^.*genmod version: //' ) END_VERSIONS """ |
44 45 46 47 48 49 50 51 | """ touch ${prefix}_score.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": genmod: \$(echo \$(genmod --version 2>&1) | sed 's/^.*genmod version: //' ) END_VERSIONS """ |
32 33 34 35 36 37 38 39 40 41 42 43 44 | """ glnexus_cli \\ --threads $task.cpus \\ --mem-gbytes $avail_mem \\ $args \\ ${input.join(' ')} \\ > ${prefix}.bcf cat <<-END_VERSIONS > versions.yml "${task.process}": glnexus: \$( echo \$(glnexus_cli 2>&1) | head -n 1 | sed 's/^.*release v//; s/ .*\$//') END_VERSIONS """ |
48 49 50 51 52 53 54 55 | """ touch ${prefix}.bcf cat <<-END_VERSIONS > versions.yml "${task.process}": glnexus: \$( echo \$(glnexus_cli 2>&1) | head -n 1 | sed 's/^.*release v//; s/ .*\$//') END_VERSIONS """ |
24 25 26 27 28 29 30 31 | """ haplocheck --raw --out $prefix $vcf cat <<-END_VERSIONS > versions.yml "${task.process}": haplocheck: \$(echo \$(haplocheck --version 2>&1) | sed 's/.*\\([0-9].[0-9].[0-9]\\).*/\\1/' ) END_VERSIONS """ |
35 36 37 38 39 40 41 42 43 | """ touch ${prefix}.raw.txt touch ${prefix}.html cat <<-END_VERSIONS > versions.yml "${task.process}": haplocheck: \$(echo \$(haplocheck --version 2>&1) | sed 's/.*\\([0-9].[0-9].[0-9]\\).*/\\1/' ) END_VERSIONS """ |
24 25 26 27 28 29 30 31 32 33 34 35 36 | """ haplogrep \\ classify \\ $args \\ --in $inputfile \\ --out ${prefix}.txt \\ --format $format cat <<-END_VERSIONS > versions.yml "${task.process}": haplogrep2: \$(echo \$(haplogrep --version 2>&1) | (sed 's/htt.*//') | (sed 's/.*v//')) END_VERSIONS """ |
40 41 42 43 44 45 46 47 | """ touch ${prefix}.txt cat <<-END_VERSIONS > versions.yml "${task.process}": haplogrep2: \$(echo \$(haplogrep --version 2>&1) | (sed 's/htt.*//') | (sed 's/.*v//')) END_VERSIONS """ |
24 25 26 27 28 29 30 31 32 33 34 35 | """ hmtnote \\ annotate \\ $vcf \\ ${prefix}_annotated.vcf \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": hmtnote: \$(echo \$(hmtnote --version 2>&1) | sed 's/^.*hmtnote, version //; s/Using.*\$//' )) END_VERSIONS """ |
38 39 40 41 42 43 44 | """ touch ${prefix}_annotated.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": hmtnote: \$(echo \$(hmtnote --version 2>&1) | sed 's/^.*hmtnote, version //; s/Using.*\$//' )) END_VERSIONS """ |
34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 | """ configManta.py \ ${input_files} \ --reference $fasta \ --runDir manta \ $options_manta \ $args python manta/runWorkflow.py -m local -j $task.cpus mv manta/results/variants/candidateSmallIndels.vcf.gz \ ${prefix}.candidate_small_indels.vcf.gz mv manta/results/variants/candidateSmallIndels.vcf.gz.tbi \ ${prefix}.candidate_small_indels.vcf.gz.tbi mv manta/results/variants/candidateSV.vcf.gz \ ${prefix}.candidate_sv.vcf.gz mv manta/results/variants/candidateSV.vcf.gz.tbi \ ${prefix}.candidate_sv.vcf.gz.tbi mv manta/results/variants/diploidSV.vcf.gz \ ${prefix}.diploid_sv.vcf.gz mv manta/results/variants/diploidSV.vcf.gz.tbi \ ${prefix}.diploid_sv.vcf.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": manta: \$( configManta.py --version ) END_VERSIONS """ |
65 66 67 68 69 70 71 72 73 74 75 76 77 | """ touch ${prefix}.candidate_small_indels.vcf.gz touch ${prefix}.candidate_small_indels.vcf.gz.tbi touch ${prefix}.candidate_sv.vcf.gz touch ${prefix}.candidate_sv.vcf.gz.tbi touch ${prefix}.diploid_sv.vcf.gz touch ${prefix}.diploid_sv.vcf.gz.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": manta: \$( configManta.py --version ) END_VERSIONS """ |
44 45 46 47 48 49 50 51 52 53 54 55 56 57 | """ mosdepth \\ --threads $task.cpus \\ $interval \\ $reference \\ $args \\ $prefix \\ $bam cat <<-END_VERSIONS > versions.yml "${task.process}": mosdepth: \$(mosdepth --version 2>&1 | sed 's/^.*mosdepth //; s/ .*\$//') END_VERSIONS """ |
61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 | """ touch ${prefix}.global.dist.txt touch ${prefix}.region.dist.txt touch ${prefix}.summary.txt touch ${prefix}.per-base.d4 touch ${prefix}.per-base.bed.gz touch ${prefix}.per-base.bed.gz.csi touch ${prefix}.regions.bed.gz touch ${prefix}.regions.bed.gz.csi touch ${prefix}.quantized.bed.gz touch ${prefix}.quantized.bed.gz.csi touch ${prefix}.thresholds.bed.gz touch ${prefix}.thresholds.bed.gz.csi cat <<-END_VERSIONS > versions.yml "${task.process}": mosdepth: \$(mosdepth --version 2>&1 | sed 's/^.*mosdepth //; s/ .*\$//') END_VERSIONS """ |
28 29 30 31 32 33 34 35 36 37 38 39 40 | """ multiqc \\ --force \\ $args \\ $config \\ $extra_config \\ . cat <<-END_VERSIONS > versions.yml "${task.process}": multiqc: \$( multiqc --version | sed -e "s/multiqc, version //g" ) END_VERSIONS """ |
43 44 45 46 47 48 49 50 51 52 | """ touch multiqc_data touch multiqc_plots touch multiqc_report.html cat <<-END_VERSIONS > versions.yml "${task.process}": multiqc: \$( multiqc --version | sed -e "s/multiqc, version //g" ) END_VERSIONS """ |
27 28 29 30 31 32 33 34 35 36 37 38 39 40 | """ peddy \\ $args \\ --prefix $prefix \\ --plot \\ -p $task.cpus \\ $vcf \\ $ped cat <<-END_VERSIONS > versions.yml "${task.process}": peddy: \$( peddy --version 2>&1 | sed 's/peddy, version //' ) END_VERSIONS """ |
44 45 46 47 48 49 50 51 52 53 | """ touch ${prefix}.ped_check.csv touch ${prefix}.vs.html touch ${prefix}.het_check.csv touch ${prefix}.sex_check.csv touch ${prefix}.peddy.ped touch ${prefix}.html touch versions.yml """ |
30 31 32 33 34 35 36 37 38 39 40 41 42 | """ picard \\ -Xmx${avail_mem}M \\ AddOrReplaceReadGroups \\ $args \\ --INPUT ${bam} \\ --OUTPUT ${prefix}.bam cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(picard AddOrReplaceReadGroups --version 2>&1 | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
46 47 48 49 50 51 52 53 | """ touch ${prefix}.bam cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(picard AddOrReplaceReadGroups --version 2>&1 | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 | """ $bait_intervallist_cmd $target_intervallist_cmd picard \\ -Xmx${avail_mem}M \\ CollectHsMetrics \\ $args \\ $reference \\ --BAIT_INTERVALS $bait_interval_list \\ --TARGET_INTERVALS $target_interval_list \\ --INPUT $bam \\ --OUTPUT ${prefix}.CollectHsMetrics.coverage_metrics cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(echo \$(picard CollectHsMetrics --version 2>&1) | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
74 75 76 77 78 79 80 81 | """ touch ${prefix}.CollectHsMetrics.coverage_metrics cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(echo \$(picard CollectHsMetrics --version 2>&1) | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
33 34 35 36 37 38 39 40 41 42 43 44 45 46 | """ picard \\ -Xmx${avail_mem}M \\ CollectMultipleMetrics \\ $args \\ --INPUT $bam \\ --OUTPUT ${prefix}.CollectMultipleMetrics \\ $reference cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(picard CollectMultipleMetrics --version 2>&1 | grep -o 'Version.*' | cut -f2- -d:) END_VERSIONS """ |
50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 | """ touch ${prefix}.CollectMultipleMetrics.alignment_summary_metrics touch ${prefix}.CollectMultipleMetrics.insert_size_metrics touch ${prefix}.CollectMultipleMetrics.quality_distribution.pdf touch ${prefix}.CollectMultipleMetrics.base_distribution_by_cycle_metrics touch ${prefix}.CollectMultipleMetrics.quality_by_cycle_metrics touch ${prefix}.CollectMultipleMetrics.read_length_histogram.pdf touch ${prefix}.CollectMultipleMetrics.base_distribution_by_cycle.pdf touch ${prefix}.CollectMultipleMetrics.quality_by_cycle.pdf touch ${prefix}.CollectMultipleMetrics.insert_size_histogram.pdf touch ${prefix}.CollectMultipleMetrics.quality_distribution_metrics cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(echo \$(picard CollectMultipleMetrics --version 2>&1) | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 | """ picard \\ -Xmx${avail_mem}M \\ CollectWgsMetrics \\ $args \\ --INPUT $bam \\ --OUTPUT ${prefix}.CollectWgsMetrics.coverage_metrics \\ --REFERENCE_SEQUENCE ${fasta} \\ $interval cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(picard CollectWgsMetrics --version 2>&1 | grep -o 'Version.*' | cut -f2- -d:) END_VERSIONS """ |
52 53 54 55 56 57 58 59 | """ touch ${prefix}.CollectWgsMetrics.coverage_metrics cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(picard CollectWgsMetrics --version 2>&1 | grep -o 'Version.*' | cut -f2- -d:) END_VERSIONS """ |
33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 | """ picard \\ -Xmx${avail_mem}M \\ LiftoverVcf \\ $args \\ --INPUT $input_vcf \\ --OUTPUT ${prefix}.lifted.vcf.gz \\ --CHAIN $chain \\ --REJECT ${prefix}.unlifted.vcf.gz \\ --REFERENCE_SEQUENCE $fasta cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(echo \$(picard LiftoverVcf --version 2>&1) | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
52 53 54 55 56 57 58 59 60 | """ touch ${prefix}.lifted.vcf.gz touch ${prefix}.unlifted.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(echo \$(picard LiftoverVcf --version 2>&1) | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 | """ picard \\ -Xmx${avail_mem}M \\ MarkDuplicates \\ $args \\ --INPUT $bam \\ --OUTPUT ${prefix}.bam \\ --REFERENCE_SEQUENCE $fasta \\ --METRICS_FILE ${prefix}.MarkDuplicates.metrics.txt cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(echo \$(picard MarkDuplicates --version 2>&1) | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
51 52 53 54 55 56 57 58 59 60 | """ touch ${prefix}.bam touch ${prefix}.bam.bai touch ${prefix}.MarkDuplicates.metrics.txt cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(echo \$(picard MarkDuplicates --version 2>&1) | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
32 33 34 35 36 37 38 39 40 41 42 43 44 | """ picard \\ RenameSampleInVcf \\ -Xmx${avail_mem}M \\ --INPUT $vcf \\ --OUTPUT ${prefix}_renam.vcf.gz \\ $extended_args cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(picard RenameSampleInVcf --version 2>&1 | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
49 50 51 52 53 54 55 | """ touch ${prefix}_renam.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(picard RenameSampleInVcf --version 2>&1 | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 | """ picard \\ SortVcf \\ -Xmx${avail_mem}M \\ --INPUT $vcf \\ $args \\ $seq_dict \\ $reference \\ --OUTPUT ${prefix}_sorted.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(picard SortVcf --version 2>&1 | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
52 53 54 55 56 57 58 59 60 61 | """ touch ${prefix}_sorted.vcf.gz touch ${prefix}.bam.bai touch ${prefix}.MarkDuplicates.metrics.txt cat <<-END_VERSIONS > versions.yml "${task.process}": picard: \$(picard SortVcf --version 2>&1 | grep -o 'Version:.*' | cut -f2- -d:) END_VERSIONS """ |
35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 | """ unset DISPLAY mkdir -p tmp export _JAVA_OPTIONS=-Djava.io.tmpdir=./tmp qualimap \\ --java-mem-size=$memory \\ bamqc \\ $args \\ -bam $bam \\ $regions \\ -p $strandedness \\ $collect_pairs \\ -outdir $prefix \\ -nt $task.cpus cat <<-END_VERSIONS > versions.yml "${task.process}": qualimap: \$(echo \$(qualimap 2>&1) | sed 's/^.*QualiMap v.//; s/Built.*\$//') END_VERSIONS """ |
58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 | """ mkdir -p $prefix/css mkdir $prefix/images_qualimapReport mkdir $prefix/raw_data_qualimapReport cd $prefix/css touch agogo.css touch basic.css touch bgtop.png touch comment-close.png touch doctools.js touch down-pressed.png touch jquery.js touch plus.png touch qualimap_logo_small.png touch searchtools.js touch up.png touch websupport.js touch ajax-loader.gif touch bgfooter.png touch comment-bright.png touch comment.png touch down.png touch file.png touch minus.png touch pygments.css touch report.css touch underscore.js touch up-pressed.png cd ../images_qualimapReport/ touch genome_coverage_0to50_histogram.png touch genome_coverage_quotes.png touch genome_insert_size_across_reference.png touch genome_mapping_quality_histogram.png touch genome_uniq_read_starts_histogram.png touch genome_coverage_across_reference.png touch genome_gc_content_per_window.png touch genome_insert_size_histogram.png touch genome_reads_clipping_profile.png touch genome_coverage_histogram.png touch genome_homopolymer_indels.png touch genome_mapping_quality_across_reference.png touch genome_reads_content_per_read_position.png cd ../raw_data_qualimapReport touch coverage_across_reference.txt touch genome_fraction_coverage.txt touch insert_size_histogram.txt touch mapped_reads_nucleotide_content.txt touch coverage_histogram.txt touch homopolymer_indels.txt touch mapped_reads_clipping_profile.txt touch mapping_quality_across_reference.txt touch duplication_rate_histogram.txt touch insert_size_across_reference.txt touch mapped_reads_gc-content_distribution.txt touch mapping_quality_histogram.txt cd ../ touch genome_results.txt touch qualimapReport.html cd ../ cat <<-END_VERSIONS > versions.yml "${task.process}": qualimap: \$(echo \$(qualimap 2>&1) | sed 's/^.*QualiMap v.//; s/Built.*\$//') END_VERSIONS """ |
26 27 28 29 30 31 32 33 34 35 36 37 38 39 | """ rhocall \\ annotate \\ $args \\ $az_bed \\ -r $roh \\ -o ${prefix}_rhocall.vcf \\ $vcf cat <<-END_VERSIONS > versions.yml "${task.process}": rhocall: \$(echo \$(rhocall --version 2>&1) | sed 's/rhocall, version //' ) END_VERSIONS """ |
43 44 45 46 47 48 49 50 | """ touch ${prefix}_rhocall.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": rhocall: \$(echo \$(rhocall --version 2>&1) | sed 's/rhocall, version //' ) END_VERSIONS """ |
25 26 27 28 29 30 31 32 33 34 35 | """ samtools \\ faidx \\ $fasta \\ $args cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
40 41 42 43 44 45 46 47 48 49 | """ ${fastacmd} touch ${fasta}.fai cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
24 25 26 27 28 29 30 31 32 33 34 35 | """ samtools \\ index \\ -@ ${task.cpus-1} \\ $args \\ $input cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
38 39 40 41 42 43 44 45 46 47 | """ touch ${input}.bai touch ${input}.crai touch ${input}.csi cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
30 31 32 33 34 35 36 37 38 39 40 41 42 43 | """ samtools \\ merge \\ --threads ${task.cpus-1} \\ $args \\ ${reference} \\ ${prefix}.${file_type} \\ $input_files cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
48 49 50 51 52 53 54 55 | """ touch ${prefix}.${file_type} cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
25 26 27 28 29 30 31 32 33 34 35 36 37 | """ samtools sort \\ $args \\ -@ $task.cpus \\ -o ${prefix}.bam \\ -T $prefix \\ $bam cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
41 42 43 44 45 46 47 48 | """ touch ${prefix}.bam cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
25 26 27 28 29 30 31 32 33 34 35 36 37 | """ samtools \\ stats \\ --threads ${task.cpus} \\ ${reference} \\ ${input} \\ > ${prefix}.stats cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
41 42 43 44 45 46 47 48 | """ touch ${prefix}.stats cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 | """ samtools \\ view \\ --threads ${task.cpus-1} \\ ${reference} \\ ${readnames} \\ $args \\ -o ${prefix}.${file_type} \\ $input \\ $args2 cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
57 58 59 60 61 62 63 64 65 | """ touch ${prefix}.bam touch ${prefix}.cram cat <<-END_VERSIONS > versions.yml "${task.process}": samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 | """ echo $bam | tr ' ' ' ' > manifest.txt smn_caller.py \\ $args \\ --manifest manifest.txt \\ --prefix $prefix \\ --outDir "out" \\ --threads $task.cpus cat <<-END_VERSIONS > versions.yml "${task.process}": SMNCopyNumberCaller: $VERSION END_VERSIONS """ |
44 45 46 47 48 49 50 51 52 53 | """ mkdir out touch out/${prefix}.tsv touch out/${prefix}.json cat <<-END_VERSIONS > versions.yml "${task.process}": SMNCopyNumberCaller: $VERSION END_VERSIONS """ |
25 26 27 28 29 30 31 32 33 34 35 | """ stranger \\ $args \\ $vcf \\ $options_variant_catalog | gzip --no-name > ${prefix}.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": stranger: \$( stranger --version ) END_VERSIONS """ |
39 40 41 42 43 44 45 46 | """ touch ${prefix}.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": stranger: \$( stranger --version ) END_VERSIONS """ |
32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 | """ svdb \\ --merge \\ $args \\ $prio \\ --vcf $input \\ > ${prefix}_sv_merge.vcf bgzip ${prefix}_sv_merge.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": svdb: \$( echo \$(svdb) | head -1 | sed 's/usage: SVDB-\\([0-9]\\.[0-9]\\.[0-9]\\).*/\\1/' ) samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
50 51 52 53 54 55 56 57 58 | """ touch ${prefix}_sv_merge.vcf.gz cat <<-END_VERSIONS > versions.yml "${task.process}": svdb: \$( echo \$(svdb) | head -1 | sed 's/usage: SVDB-\\([0-9]\\.[0-9]\\.[0-9]\\).*/\\1/' ) samtools: \$(echo \$(samtools --version 2>&1) | sed 's/^.*samtools //; s/Using.*\$//') END_VERSIONS """ |
45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 | """ svdb \\ --query \\ $in_occ \\ $in_frq \\ $out_occ \\ $out_frq \\ $args \\ --db ${vcf_dbs.join(',')} \\ --query_vcf $vcf \\ --prefix ${prefix} cat <<-END_VERSIONS > versions.yml "${task.process}": svdb: \$( echo \$(svdb) | head -1 | sed 's/usage: SVDB-\\([0-9]\\.[0-9]\\.[0-9]\\).*/\\1/' ) END_VERSIONS """ |
65 66 67 68 69 70 71 72 | """ touch ${prefix}_query.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": svdb: \$( echo \$(svdb) | head -1 | sed 's/usage: SVDB-\\([0-9]\\.[0-9]\\.[0-9]\\).*/\\1/' ) END_VERSIONS """ |
25 26 27 28 29 30 31 32 33 | """ bgzip --threads ${task.cpus} -c $args $input > ${prefix}.${input.getExtension()}.gz tabix $args2 ${prefix}.${input.getExtension()}.gz cat <<-END_VERSIONS > versions.yml "${task.process}": tabix: \$(echo \$(tabix -h 2>&1) | sed 's/^.*Version: //; s/ .*\$//') END_VERSIONS """ |
37 38 39 40 41 42 43 44 45 46 | """ touch ${prefix}.${input.getExtension()}.gz touch ${prefix}.${input.getExtension()}.gz.tbi touch ${prefix}.${input.getExtension()}.gz.csi cat <<-END_VERSIONS > versions.yml "${task.process}": tabix: \$(echo \$(tabix -h 2>&1) | sed 's/^.*Version: //; s/ .*\$//') END_VERSIONS """ |
23 24 25 26 27 28 29 30 | """ tabix $args $tab cat <<-END_VERSIONS > versions.yml "${task.process}": tabix: \$(echo \$(tabix -h 2>&1) | sed 's/^.*Version: //; s/ .*\$//') END_VERSIONS """ |
34 35 36 37 38 39 40 41 | """ touch ${tab}.tbi cat <<-END_VERSIONS > versions.yml "${task.process}": tabix: \$(echo \$(tabix -h 2>&1) | sed 's/^.*Version: //; s/ .*\$//') END_VERSIONS """ |
26 27 28 29 30 31 32 33 34 35 36 37 38 | """ tiddit \\ --cov \\ -o $prefix \\ $args \\ --bam $input \\ $reference cat <<-END_VERSIONS > versions.yml "${task.process}": tiddit: \$(echo \$(tiddit 2>&1) | sed 's/^.*tiddit-//; s/ .*\$//') END_VERSIONS """ |
42 43 44 45 46 47 48 49 50 | """ touch ${prefix}.wig touch ${prefix}.tab cat <<-END_VERSIONS > versions.yml "${task.process}": tiddit: \$(echo \$(tiddit 2>&1) | sed 's/^.*tiddit-//; s/ .*\$//') END_VERSIONS """ |
28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 | """ $bwa_command tiddit \\ --sv \\ $args \\ --bam $input \\ --ref $fasta \\ -o $prefix cat <<-END_VERSIONS > versions.yml "${task.process}": tiddit: \$(echo \$(tiddit 2>&1) | sed 's/^.*tiddit-//; s/ .*\$//') END_VERSIONS """ |
46 47 48 49 50 51 52 53 54 | """ touch ${prefix}.vcf touch ${prefix}.ploidies.tab cat <<-END_VERSIONS > versions.yml "${task.process}": tiddit: \$(echo \$(tiddit 2>&1) | sed 's/^.*tiddit-//; s/ .*\$//') END_VERSIONS """ |
26 27 28 29 30 31 32 33 34 35 36 37 | """ wigToBigWig \\ $args \\ $wig \\ $sizes \\ ${prefix}.bw cat <<-END_VERSIONS > versions.yml "${task.process}": ucsc: $VERSION END_VERSIONS """ |
42 43 44 45 46 47 48 49 | """ touch ${prefix}.bw cat <<-END_VERSIONS > versions.yml "${task.process}": ucsc: $VERSION END_VERSIONS """ |
25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 | """ mkdir $prefix ## Ensures --strip-components only applied when top level of tar contents is a directory ## If just files or multiple directories, place all in prefix if [[ \$(tar -taf ${archive} | grep -o -P "^.*?\\/" | uniq | wc -l) -eq 1 ]]; then tar \\ -C $prefix --strip-components 1 \\ -xavf \\ $args \\ $archive \\ $args2 else tar \\ -C $prefix \\ -xavf \\ $args \\ $archive \\ $args2 fi cat <<-END_VERSIONS > versions.yml "${task.process}": untar: \$(echo \$(tar --version 2>&1) | sed 's/^.*(GNU tar) //; s/ Copyright.*\$//') END_VERSIONS """ |
54 55 56 57 58 59 60 61 62 | """ mkdir $prefix touch ${prefix}/file.txt cat <<-END_VERSIONS > versions.yml "${task.process}": untar: \$(echo \$(tar --version 2>&1) | sed 's/^.*(GNU tar) //; s/ Copyright.*\$//') END_VERSIONS """ |
24 25 26 27 28 29 30 31 32 33 34 | """ upd \\ --vcf $vcf \\ $args \\ | sort -k 1,1 -k 2,2n >${prefix}.bed cat <<-END_VERSIONS > versions.yml "${task.process}": upd: \$( upd --version 2>&1 | sed 's/upd, version //' ) END_VERSIONS """ |
38 39 40 41 42 43 44 45 | """ touch ${prefix}.bed cat <<-END_VERSIONS > versions.yml "${task.process}": upd: \$( upd --version 2>&1 | sed 's/upd, version //' ) END_VERSIONS """ |
27 28 29 30 31 32 33 34 35 36 37 38 39 40 | """ vcfanno \\ -p ${task.cpus} \\ ${args} \\ ${lua_cmd} \\ ${toml} \\ ${vcf} \\ > ${prefix}.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": vcfanno: \$(echo \$(vcfanno 2>&1 | grep version | cut -f3 -d' ' )) END_VERSIONS """ |
44 45 46 47 48 49 50 51 | """ touch ${prefix}.vcf cat <<-END_VERSIONS > versions.yml "${task.process}": vcfanno: \$(echo \$(vcfanno 2>&1 | grep version | cut -f3 -d' ' )) END_VERSIONS """ |
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