@@ -0,0 +1,53 @@ | |||
### Variant Calling | |||
This APP developed for somatic short variant discovery (SNVs + Indels). | |||
***Supported callers*** | |||
* TNseq (TNhaplotyper2) | |||
* TNscope | |||
* VarScan | |||
* TNhaplotyper (This caller is only available in `v0.1.0` as it is too outdated) | |||
Variant caller can be selected by setting `ture/false` in the submitted sample.csv. | |||
***Accepted data*** | |||
* TN matched WES | |||
* TN matched WGS | |||
The datatype is judged by whether the bed file is set (i.e. the `regions` in inputs). | |||
### New Releases | |||
* The TNhaplotyper, named as TNseq in `v0.1.0`, has beed substituted by TNhaplotyper2. | |||
* The `corealigner` step has been removed. | |||
* The `vcf2maf` step has been removed. Thus, the final output is the annotated `VCF`. | |||
### Getting Started | |||
We recommend using choppy system and Aliyun OSS service. The command will look like this: | |||
``` | |||
# Activate the choppy environment | |||
$ open-choppy-env | |||
# Install the APP | |||
$ choppy install YaqingLiu/variant-calling-latest [-f] | |||
# List the parameters | |||
$ choppy samples YaqingLiu/variant-calling-latest [--no-default] | |||
# Submit you task with the `samples.csv file` and `project name` | |||
$ choppy batch YaqingLiu/variant-calling-latest samples.csv -p Project [-l project:Label] | |||
# Query the status of all tasks in the project | |||
$ choppy query -L Label | grep "status" | |||
``` | |||
**Please note:** The `defaults` can be forcibly replaced by the settings in `samples.csv`. Therefore, there is no need to contact me over this issue. | |||
The parameters that must need contains: sample_id,normal_fastq_1,normal_fastq_2,tumor_fastq_1,tumor_fastq_2 | |||
**Please carefully check** | |||
* the reference genome | |||
* bed file | |||
* the caller you want to use | |||
* whether PoN needs to be set |
@@ -0,0 +1,28 @@ | |||
{ | |||
"fasta": "GRCh38.d1.vd1.fa", | |||
"ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"dbsnp": "dbsnp_146.hg38.vcf", | |||
"dbsnp_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"SENTIEON_INSTALL_DIR": "/opt/sentieon-genomics", | |||
"SENTIEON_LICENSE": "192.168.0.55:8990", | |||
"dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf", | |||
"germline_resource": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz", | |||
"sentieon_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v2020.10.07", | |||
"varscan_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/varscan2:v2.4.3", | |||
"annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2018.04", | |||
"maftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/r-base:4.0.2", | |||
"bcftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/bcftools:v1.9", | |||
"database": "oss://pgx-reference-data/annovar_hg38/", | |||
"regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Covered.bed", | |||
"tnseq_pon": "", | |||
"tnscope_pon": "", | |||
"cosmic_vcf": "CosmicCodingMuts.hg38.v91.vcf", | |||
"cosmic_dir": "oss://pgx-reference-data/reference/cosmic/", | |||
"disk_size": "200", | |||
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc", | |||
"germline": false, | |||
"tnseq": true, | |||
"tnscope": true, | |||
"varscan": true | |||
} |
@@ -1,17 +1,34 @@ | |||
{ | |||
"{{ project_name }}.fasta": "GRCh38.d1.vd1.fa", | |||
"{{ project_name }}.ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"{{ project_name }}.dbsnp": "dbsnp_146.hg38.vcf", | |||
"{{ project_name }}.recaled_bam": "{{ recaled_bam }}", | |||
"{{ project_name }}.SENTIEON_INSTALL_DIR": "/opt/sentieon-genomics", | |||
"{{ project_name }}.db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf", | |||
"{{ project_name }}.cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc", | |||
"{{ project_name }}.docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v2020.10.07", | |||
"{{ project_name }}.dbsnp_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | |||
"{{ project_name }}.sample": "{{ sample_id }}", | |||
"{{ project_name }}.disk_size": "500", | |||
"{{ project_name }}.recaled_bam_index": "{{ recaled_bam_index }}", | |||
"{{ project_name }}.regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Covered.bed", | |||
"{{ project_name }}.interval_padding": "0" | |||
"{{ project_name }}.sample_id": "{{ sample_id }}", | |||
"{{ project_name }}.tumor_bam": "{{ tumor_bam }}", | |||
"{{ project_name }}.tumor_bai": "{{ tumor_bai }}", | |||
"{{ project_name }}.tumor_table": "{{ tumor_table }}", | |||
"{{ project_name }}.normal_bam": "{{ normal_bam }}", | |||
"{{ project_name }}.normal_bai": "{{ normal_bai }}", | |||
"{{ project_name }}.normal_table": "{{ normal_table }}", | |||
"{{ project_name }}.fasta": "{{ fasta }}", | |||
"{{ project_name }}.ref_dir": "{{ ref_dir }}", | |||
"{{ project_name }}.dbsnp": "{{ dbsnp }}", | |||
"{{ project_name }}.dbsnp_dir": "{{ dbsnp_dir }}", | |||
"{{ project_name }}.SENTIEON_INSTALL_DIR": "{{ SENTIEON_INSTALL_DIR }}", | |||
"{{ project_name }}.SENTIEON_LICENSE": "{{ SENTIEON_LICENSE }}", | |||
"{{ project_name }}.dbmills_dir": "{{ dbmills_dir }}", | |||
"{{ project_name }}.db_mills": "{{ db_mills }}", | |||
"{{ project_name }}.germline_resource": "{{ germline_resource }}", | |||
"{{ project_name }}.sentieon_docker": "{{ sentieon_docker }}", | |||
"{{ project_name }}.varscan_docker": "{{ varscan_docker }}", | |||
"{{ project_name }}.annovar_docker": "{{ annovar_docker }}", | |||
"{{ project_name }}.maftools_docker": "{{ maftools_docker }}", | |||
"{{ project_name }}.database": "{{ database }}", | |||
"{{ project_name }}.regions": "{{ regions }}", | |||
"{{ project_name }}.tnseq_pon": "{{ tnseq_pon }}", | |||
"{{ project_name }}.tnscope_pon": "{{ tnscope_pon }}", | |||
"{{ project_name }}.cosmic_vcf": "{{ cosmic_vcf }}", | |||
"{{ project_name }}.cosmic_dir": "{{ cosmic_dir }}", | |||
"{{ project_name }}.disk_size": "{{ disk_size }}", | |||
"{{ project_name }}.cluster_config": "{{ cluster_config }}", | |||
"{{ project_name }}.germline": {{ germline | tojson }}, | |||
"{{ project_name }}.tnseq": {{ tnseq | tojson }}, | |||
"{{ project_name }}.tnscope": {{ tnscope | tojson }}, | |||
"{{ project_name }}.varscan": {{ varscan | tojson }} | |||
} | |||
@@ -1,48 +0,0 @@ | |||
task BQSR { | |||
File ref_dir | |||
File dbsnp_dir | |||
File dbmills_dir | |||
String sample | |||
String SENTIEON_INSTALL_DIR | |||
String fasta | |||
String dbsnp | |||
String db_mills | |||
File realigned_bam | |||
File realigned_bam_index | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${realigned_bam} --algo QualCal -k ${dbsnp_dir}/${dbsnp} -k ${dbmills_dir}/${db_mills} ${sample}_recal_data.table | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${realigned_bam} -q ${sample}_recal_data.table --algo QualCal -k ${dbsnp_dir}/${dbsnp} -k ${dbmills_dir}/${db_mills} ${sample}_recal_data.table.post --algo ReadWriter ${sample}.sorted.deduped.realigned.recaled.bam | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --algo QualCal --plot --before ${sample}_recal_data.table --after ${sample}_recal_data.table.post ${sample}_recal_data.csv | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon plot QualCal -o ${sample}_bqsrreport.pdf ${sample}_recal_data.csv | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File recal_table = "${sample}_recal_data.table" | |||
File recal_post = "${sample}_recal_data.table.post" | |||
File recaled_bam = "${sample}.sorted.deduped.realigned.recaled.bam" | |||
File recaled_bam_index = "${sample}.sorted.deduped.realigned.recaled.bam.bai" | |||
File recal_csv = "${sample}_recal_data.csv" | |||
File bqsrreport_pdf = "${sample}_bqsrreport.pdf" | |||
} | |||
} |
@@ -1,40 +0,0 @@ | |||
task Dedup { | |||
String SENTIEON_INSTALL_DIR | |||
String sample | |||
File sorted_bam | |||
File sorted_bam_index | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt -i ${sorted_bam} --algo LocusCollector --fun score_info ${sample}_score.txt | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt -i ${sorted_bam} --algo Dedup --rmdup --score_info ${sample}_score.txt --metrics ${sample}_dedup_metrics.txt ${sample}.sorted.deduped.bam | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File score = "${sample}_score.txt" | |||
File dedup_metrics = "${sample}_dedup_metrics.txt" | |||
File Dedup_bam = "${sample}.sorted.deduped.bam" | |||
File Dedup_bam_index = "${sample}.sorted.deduped.bam.bai" | |||
} | |||
} | |||
@@ -1,49 +0,0 @@ | |||
task Haplotyper { | |||
File ref_dir | |||
File dbsnp_dir | |||
String SENTIEON_INSTALL_DIR | |||
String fasta | |||
File recaled_bam | |||
File recaled_bam_index | |||
String dbsnp | |||
String sample | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
File? regions | |||
Int? interval_padding | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
if [ ${regions} ]; then | |||
INTERVAL="--interval ${regions} --interval_padding ${interval_padding}" | |||
else | |||
INTERVAL="" | |||
fi | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt \ | |||
-i ${recaled_bam} $INTERVAL \ | |||
--algo Haplotyper -d ${dbsnp_dir}/${dbsnp} ${sample}_hc.vcf | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File vcf = "${sample}_hc.vcf" | |||
File vcf_idx = "${sample}_hc.vcf.idx" | |||
} | |||
} | |||
@@ -1,56 +0,0 @@ | |||
task Metrics { | |||
File ref_dir | |||
String SENTIEON_INSTALL_DIR | |||
String sample | |||
String docker | |||
String cluster_config | |||
String fasta | |||
File sorted_bam | |||
File sorted_bam_index | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${sorted_bam} --algo MeanQualityByCycle ${sample}_mq_metrics.txt --algo QualDistribution ${sample}_qd_metrics.txt --algo GCBias --summary ${sample}_gc_summary.txt ${sample}_gc_metrics.txt --algo AlignmentStat ${sample}_aln_metrics.txt --algo InsertSizeMetricAlgo ${sample}_is_metrics.txt --algo CoverageMetrics --omit_base_output ${sample}_coverage_metrics | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon plot metrics -o ${sample}_metrics_report.pdf gc=${sample}_gc_metrics.txt qd=${sample}_qd_metrics.txt mq=${sample}_mq_metrics.txt isize=${sample}_is_metrics.txt | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File qd_metrics = "${sample}_qd_metrics.txt" | |||
File qd_metrics_pdf = "${sample}_qd_metrics.pdf" | |||
File mq_metrics = "${sample}_mq_metrics.txt" | |||
File mq_metrics_pdf = "${sample}_mq_metrics.pdf" | |||
File is_metrics = "${sample}_is_metrics.txt" | |||
File is_metrics_pdf = "${sample}_is_metrics.pdf" | |||
File gc_summary = "${sample}_gc_summary.txt" | |||
File gc_metrics = "${sample}_gc_metrics.txt" | |||
File gc_metrics_pdf = "${sample}_gc_metrics.pdf" | |||
File aln_metrics = "${sample}_aln_metrics.txt" | |||
File coverage_metrics_sample_summary = "${sample}_coverage_metrics.sample_summary" | |||
File coverage_metrics_sample_statistics = "${sample}_coverage_metrics.sample_statistics" | |||
File coverage_metrics_sample_interval_statistics = "${sample}_coverage_metrics.sample_interval_statistics" | |||
File coverage_metrics_sample_cumulative_coverage_proportions = "${sample}_coverage_metrics.sample_cumulative_coverage_proportions" | |||
File coverage_metrics_sample_cumulative_coverage_counts = "${sample}_coverage_metrics.sample_cumulative_coverage_counts" | |||
} | |||
} | |||
@@ -1,41 +0,0 @@ | |||
task Realigner { | |||
File ref_dir | |||
File dbmills_dir | |||
String SENTIEON_INSTALL_DIR | |||
String sample | |||
String fasta | |||
File Dedup_bam | |||
File Dedup_bam_index | |||
String db_mills | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${Dedup_bam} --algo Realigner -k ${dbmills_dir}/${db_mills} ${sample}.sorted.deduped.realigned.bam | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File realigner_bam = "${sample}.sorted.deduped.realigned.bam" | |||
File realigner_bam_index = "${sample}.sorted.deduped.realigned.bam.bai" | |||
} | |||
} | |||
@@ -1,42 +1,69 @@ | |||
task TNscope { | |||
String sample | |||
String SENTIEON_INSTALL_DIR | |||
String SENTIEON_LICENSE | |||
File tumor_recaled_bam | |||
File tumor_recaled_bam_index | |||
File tumor_recal_table | |||
File normal_recaled_bam | |||
File normal_recaled_bam_index | |||
File normal_recal_table | |||
String tumor_name | |||
String normal_name | |||
File ref_dir | |||
File dbsnp_dir | |||
File ref_dir | |||
String fasta | |||
File dbsnp_dir | |||
String dbsnp | |||
File? regions | |||
Int? interval_padding | |||
File? pon_vcf | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=${SENTIEON_LICENSE} | |||
nt=$(nproc) | |||
if [ ${regions} ]; then | |||
INTERVAL="--interval ${regions} --interval_padding ${interval_padding}" | |||
else | |||
INTERVAL="" | |||
fi | |||
if [ ${pon_vcf} ]; then | |||
PON="--pon ${pon_vcf}" | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon util vcfindex ${pon_vcf} | |||
else | |||
PON="" | |||
fi | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt \ | |||
-r ${ref_dir}/${fasta} $INTERVAL \ | |||
-i ${tumor_recaled_bam} -q ${tumor_recal_table} \ | |||
-i ${normal_recaled_bam} -q ${normal_recal_table} \ | |||
--algo TNscope \ | |||
--tumor_sample ${tumor_name} --normal_sample ${normal_name} \ | |||
--dbsnp ${dbsnp_dir}/${dbsnp} \ | |||
$PON \ | |||
${sample}.TNscope.TN.vcf | |||
>>> | |||
runtime { | |||
docker: docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
String SENTIEON_INSTALL_DIR | |||
String tumor_name | |||
String normal_name | |||
String docker | |||
String cluster_config | |||
String fasta | |||
File corealigner_bam | |||
File corealigner_bam_index | |||
String dbsnp | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${corealigner_bam} --algo TNscope --tumor_sample ${tumor_name} --normal_sample ${normal_name} --dbsnp ${dbsnp_dir}/${dbsnp} ${sample}.TNscope.TN.vcf | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File TNscope_vcf= "${sample}.TNscope.TN.vcf" | |||
File TNscope_vcf_index = "${sample}.TNscope.TN.vcf.idx" | |||
} | |||
output { | |||
File TNscope_vcf= "${sample}.TNscope.TN.vcf" | |||
File TNscope_vcf_index = "${sample}.TNscope.TN.vcf.idx" | |||
} | |||
} |
@@ -1,43 +1,89 @@ | |||
task TNseq { | |||
File ref_dir | |||
File dbsnp_dir | |||
String SENTIEON_INSTALL_DIR | |||
String tumor_name | |||
String normal_name | |||
String docker | |||
String cluster_config | |||
String fasta | |||
File corealigner_bam | |||
File corealigner_bam_index | |||
String dbsnp | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${corealigner_bam} --algo TNhaplotyper --tumor_sample ${tumor_name} --normal_sample ${normal_name} --dbsnp ${dbsnp_dir}/${dbsnp} ${sample}.TNseq.TN.vcf | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File TNseq_vcf= "${sample}.TNseq.TN.vcf" | |||
File TNseq_vcf_index = "${sample}.TNseq.TN.vcf.idx" | |||
} | |||
} | |||
String sample | |||
String SENTIEON_INSTALL_DIR | |||
String SENTIEON_LICENSE | |||
File tumor_recaled_bam | |||
File tumor_recaled_bam_index | |||
File tumor_recal_table | |||
File normal_recaled_bam | |||
File normal_recaled_bam_index | |||
File normal_recal_table | |||
String tumor_name | |||
String normal_name | |||
File ref_dir | |||
String fasta | |||
File germline_resource | |||
File? regions | |||
Int? interval_padding | |||
File? pon_vcf | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=${SENTIEON_LICENSE} | |||
nt=$(nproc) | |||
if [ ${regions} ]; then | |||
INTERVAL="--interval ${regions} --interval_padding ${interval_padding}" | |||
else | |||
INTERVAL="" | |||
fi | |||
if [ ${pon_vcf} ]; then | |||
PON="--pon ${pon_vcf}" | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon util vcfindex ${pon_vcf} | |||
else | |||
PON="" | |||
fi | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt \ | |||
-r ${ref_dir}/${fasta} $INTERVAL \ | |||
-i ${tumor_recaled_bam} -q ${tumor_recal_table} \ | |||
-i ${normal_recaled_bam} -q ${normal_recal_table} \ | |||
--algo TNhaplotyper2 \ | |||
--tumor_sample ${tumor_name} --normal_sample ${normal_name} \ | |||
--germline_vcf ${germline_resource} \ | |||
$PON \ | |||
${sample}.TNseq.TN.tmp.vcf \ | |||
--algo OrientationBias --tumor_sample ${tumor_name} \ | |||
${sample}.orientation \ | |||
--algo ContaminationModel \ | |||
--tumor_sample ${tumor_name} --normal_sample ${normal_name} \ | |||
--vcf ${germline_resource} \ | |||
--tumor_segments ${sample}.contamination.segments \ | |||
${sample}.contamination | |||
sentieon driver -r REFERENCE \ | |||
--algo TNfilter \ | |||
--tumor_sample ${tumor_name} --normal_sample ${normal_name} \ | |||
-v ${sample}.TNseq.TN.tmp.vcf \ | |||
--contamination ${sample}.contamination \ | |||
--tumor_segments ${sample}.contamination.segments \ | |||
--orientation_priors ${sample}.orientation \ | |||
${sample}.TNseq.TN.vcf | |||
>>> | |||
runtime { | |||
docker: docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File TNseq_vcf = "${sample}.TNseq.TN.vcf" | |||
File TNseq_vcf_index = "${sample}.TNseq.TN.vcf.idx" | |||
File contamination = "${sample}.contamination" | |||
File contamination_segments = "${sample}.contamination.segments" | |||
File orientation = "${sample}.orientation" | |||
} | |||
} |
@@ -1,44 +0,0 @@ | |||
task corealigner { | |||
File ref_dir | |||
File dbsnp_dir | |||
File dbmills_dir | |||
String sample | |||
String SENTIEON_INSTALL_DIR | |||
String docker | |||
String cluster_config | |||
String fasta | |||
String dbsnp | |||
String db_mills | |||
File tumor_recaled_bam | |||
File tumor_recaled_bam_index | |||
File normal_recaled_bam | |||
File normal_recaled_bam_index | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${tumor_recaled_bam} -i ${normal_recaled_bam} --algo Realigner -k ${db_mills} -k ${dbsnp} ${sample}_corealigned.bam | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File corealigner_bam = "${sample}_corealigned.bam" | |||
File corealigner_bam_index = "${sample}_corealigned.bam.bai" | |||
} | |||
} | |||
@@ -1,37 +0,0 @@ | |||
task deduped_Metrics { | |||
File ref_dir | |||
String SENTIEON_INSTALL_DIR | |||
String sample | |||
String fasta | |||
File Dedup_bam | |||
File Dedup_bam_index | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
${SENTIEON_INSTALL_DIR}/bin/sentieon driver -r ${ref_dir}/${fasta} -t $nt -i ${Dedup_bam} --algo CoverageMetrics --omit_base_output ${sample}_deduped_coverage_metrics --algo MeanQualityByCycle ${sample}_deduped_mq_metrics.txt --algo QualDistribution ${sample}_deduped_qd_metrics.txt --algo GCBias --summary ${sample}_deduped_gc_summary.txt ${sample}_deduped_gc_metrics.txt --algo AlignmentStat ${sample}_deduped_aln_metrics.txt --algo InsertSizeMetricAlgo ${sample}_deduped_is_metrics.txt | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File deduped_coverage_metrics_sample_summary = "${sample}_deduped_coverage_metrics.sample_summary" | |||
File deduped_coverage_metrics_sample_statistics = "${sample}_deduped_coverage_metrics.sample_statistics" | |||
File deduped_coverage_metrics_sample_interval_statistics = "${sample}_deduped_coverage_metrics.sample_interval_statistics" | |||
File deduped_coverage_metrics_sample_cumulative_coverage_proportions = "${sample}_deduped_coverage_metrics.sample_cumulative_coverage_proportions" | |||
File deduped_coverage_metrics_sample_cumulative_coverage_counts = "${sample}_deduped_coverage_metrics.sample_cumulative_coverage_counts" | |||
} | |||
} |
@@ -1,34 +0,0 @@ | |||
task mapping { | |||
File ref_dir | |||
String fasta | |||
File fastq_1 | |||
File fastq_2 | |||
String SENTIEON_INSTALL_DIR | |||
String group | |||
String sample | |||
String pl | |||
String docker | |||
String cluster_config | |||
String disk_size | |||
command <<< | |||
set -o pipefail | |||
set -e | |||
export SENTIEON_LICENSE=192.168.0.55:8990 | |||
nt=$(nproc) | |||
${SENTIEON_INSTALL_DIR}/bin/bwa mem -M -R "@RG\tID:${group}\tSM:${sample}\tPL:${pl}" -t $nt -K 10000000 ${ref_dir}/${fasta} ${fastq_1} ${fastq_2} | ${SENTIEON_INSTALL_DIR}/bin/sentieon util sort -o ${sample}.sorted.bam -t $nt --sam2bam -i - | |||
>>> | |||
runtime { | |||
docker:docker | |||
cluster: cluster_config | |||
systemDisk: "cloud_ssd 40" | |||
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" | |||
} | |||
output { | |||
File sorted_bam = "${sample}.sorted.bam" | |||
File sorted_bam_index = "${sample}.sorted.bam.bai" | |||
} | |||
} |
@@ -1,39 +1,98 @@ | |||
import "./tasks/Haplotyper.wdl" as Haplotyper | |||
import "./tasks/TNseq.wdl" as TNseq | |||
import "./tasks/TNscope.wdl" as TNscope | |||
workflow {{ project_name }} { | |||
String sample_id | |||
File tumor_bam | |||
File tumor_bai | |||
File tumor_table | |||
File normal_bam | |||
File normal_bai | |||
File normal_table | |||
String SENTIEON_INSTALL_DIR | |||
String SENTIEON_LICENSE | |||
String sentieon_docker | |||
String varscan_docker | |||
String annovar_docker | |||
String maftools_docker | |||
File ref_dir | |||
String fasta | |||
File dbmills_dir | |||
String db_mills | |||
File dbsnp_dir | |||
String dbsnp | |||
File germline_resource | |||
File? regions | |||
Int? interval_padding | |||
File database | |||
String disk_size | |||
String cluster_config | |||
File recaled_bam | |||
File recaled_bam_index | |||
File? tnseq_pon | |||
File? tnscope_pon | |||
File? cosmic_dir | |||
String? cosmic_vcf | |||
String SENTIEON_INSTALL_DIR | |||
String sample | |||
String docker | |||
String fasta | |||
File ref_dir | |||
File dbsnp_dir | |||
String dbsnp | |||
String disk_size | |||
String cluster_config | |||
Boolean germline | |||
Boolean tnseq | |||
Boolean tnscope | |||
Boolean varscan | |||
File? regions | |||
Int? interval_padding | |||
if (tnseq) { | |||
call TNseq.TNseq as TNseq { | |||
input: | |||
SENTIEON_INSTALL_DIR=SENTIEON_INSTALL_DIR, | |||
SENTIEON_LICENSE=SENTIEON_LICENSE, | |||
sample=sample_id, | |||
normal_recaled_bam=normal_bam, | |||
normal_recaled_bam_index=normal_bai, | |||
normal_recal_table=normal_table, | |||
tumor_recaled_bam=tumor_bam, | |||
tumor_recaled_bam_index=tumor_bai, | |||
tumor_recal_table=tumor_table, | |||
normal_name=sample_id + "_normal", | |||
tumor_name=sample_id + "_tumor", | |||
fasta=fasta, | |||
ref_dir=ref_dir, | |||
regions=regions, | |||
interval_padding=interval_padding, | |||
germline_resource=germline_resource, | |||
pon_vcf=tnseq_pon, | |||
docker=sentieon_docker, | |||
cluster_config=cluster_config, | |||
disk_size=disk_size | |||
} | |||
} | |||
call Haplotyper.Haplotyper as Haplotyper { | |||
input: | |||
SENTIEON_INSTALL_DIR=SENTIEON_INSTALL_DIR, | |||
fasta=fasta, | |||
ref_dir=ref_dir, | |||
regions=regions, | |||
interval_padding=interval_padding, | |||
recaled_bam=recaled_bam, | |||
recaled_bam_index=recaled_bam_index, | |||
dbsnp=dbsnp, | |||
dbsnp_dir=dbsnp_dir, | |||
sample=sample, | |||
docker=docker, | |||
disk_size=disk_size, | |||
cluster_config=cluster_config | |||
} | |||
} | |||
if (tnscope) { | |||
call TNscope.TNscope as TNscope { | |||
input: | |||
SENTIEON_INSTALL_DIR=SENTIEON_INSTALL_DIR, | |||
SENTIEON_LICENSE=SENTIEON_LICENSE, | |||
sample=sample_id, | |||
normal_recaled_bam=normal_bam, | |||
normal_recaled_bam_index=normal_bai, | |||
normal_recal_table=normal_table, | |||
tumor_recaled_bam=tumor_bam, | |||
tumor_recaled_bam_index=tumor_bai, | |||
tumor_recal_table=tumor_table, | |||
normal_name=sample_id + "_normal", | |||
tumor_name=sample_id + "_tumor", | |||
fasta=fasta, | |||
ref_dir=ref_dir, | |||
regions=regions, | |||
interval_padding=interval_padding, | |||
dbsnp=dbsnp, | |||
dbsnp_dir=dbsnp_dir, | |||
pon_vcf=tnscope_pon, | |||
docker=sentieon_docker, | |||
cluster_config=cluster_config, | |||
disk_size=disk_size | |||
} | |||
} | |||
} |