Variant calling from matched tumor/normal sample pair (hg38 version)
Version 1

Workflow Type: Galaxy
Stable

Call somatic, germline and LoH event variants from PE Illumina sequencing data obtained from matched pairs of tumor and normal tissue samples.

This workflow can be used with whole-genome and whole-exome sequencing data as input. For WES data, parts of the analysis can be restricted to the exome capture kits target regions by providing the optional "Regions of Interest" bed dataset.

The current version uses bwa-mem for read mapping and varscan somatic for variant calling and somatic status classification.

Inputs

ID Name Description Type
Estimated normal tissue purity #main/Estimated normal tissue purity n/a
  • float
Estimated tumor tissue purity #main/Estimated tumor tissue purity n/a
  • float
ID of matched normal sample #main/ID of matched normal sample n/a
  • string
NORMAL sample forward reads #main/NORMAL sample forward reads n/a
  • File
NORMAL sample reverse reads #main/NORMAL sample reverse reads n/a
  • File
Patient sex #main/Patient sex n/a
  • string
Regions of interest #main/Regions of interest n/a
  • File
Sample ID (tumor tissue) #main/Sample ID (tumor tissue) n/a
  • string
TUMOR sample forward reads #main/TUMOR sample forward reads n/a
  • File
TUMOR sample reverse reads #main/TUMOR sample reverse reads n/a
  • File

Steps

ID Name Description
4 Set hard-coded internal name for normal sample toolshed.g2.bx.psu.edu/repos/iuc/compose_text_param/compose_text_param/0.1.1
8 Set hard-coded internal name for tumor sample toolshed.g2.bx.psu.edu/repos/iuc/compose_text_param/compose_text_param/0.1.1
12 FastQC toolshed.g2.bx.psu.edu/repos/devteam/fastqc/fastqc/0.73+galaxy0
13 FastQC toolshed.g2.bx.psu.edu/repos/devteam/fastqc/fastqc/0.73+galaxy0
14 Trimmomatic toolshed.g2.bx.psu.edu/repos/pjbriggs/trimmomatic/trimmomatic/0.38.1
15 FastQC toolshed.g2.bx.psu.edu/repos/devteam/fastqc/fastqc/0.73+galaxy0
16 FastQC toolshed.g2.bx.psu.edu/repos/devteam/fastqc/fastqc/0.73+galaxy0
17 Trimmomatic toolshed.g2.bx.psu.edu/repos/pjbriggs/trimmomatic/trimmomatic/0.38.1
18 Create text file toolshed.g2.bx.psu.edu/repos/bgruening/text_processing/tp_text_file_with_recurring_lines/1.1.0
19 Compose text parameter value toolshed.g2.bx.psu.edu/repos/iuc/compose_text_param/compose_text_param/0.1.1
20 Map with BWA-MEM toolshed.g2.bx.psu.edu/repos/devteam/bwa/bwa_mem/0.7.17.1
21 FastQC toolshed.g2.bx.psu.edu/repos/devteam/fastqc/fastqc/0.73+galaxy0
22 FastQC toolshed.g2.bx.psu.edu/repos/devteam/fastqc/fastqc/0.73+galaxy0
23 MultiQC toolshed.g2.bx.psu.edu/repos/iuc/multiqc/multiqc/1.9
24 Map with BWA-MEM toolshed.g2.bx.psu.edu/repos/devteam/bwa/bwa_mem/0.7.17.1
25 FastQC toolshed.g2.bx.psu.edu/repos/devteam/fastqc/fastqc/0.73+galaxy0
26 FastQC toolshed.g2.bx.psu.edu/repos/devteam/fastqc/fastqc/0.73+galaxy0
27 Create text file toolshed.g2.bx.psu.edu/repos/bgruening/text_processing/tp_text_file_with_recurring_lines/1.1.0
28 Samtools view -H toolshed.g2.bx.psu.edu/repos/iuc/samtools_view/samtools_view/1.9+galaxy3
29 Build list __BUILD_LIST__
30 MultiQC toolshed.g2.bx.psu.edu/repos/iuc/multiqc/multiqc/1.9
31 Analysis run metadata Convert characters1
32 Select Grep1
33 Relabel identifiers __RELABEL_FROM_FILE__
34 Extract canonical chromosomes as BED toolshed.g2.bx.psu.edu/repos/bgruening/text_processing/tp_replace_in_line/1.1.2
35 Samtools view toolshed.g2.bx.psu.edu/repos/iuc/samtools_view/samtools_view/1.9+galaxy3
36 Effective regions of interest pick_value
37 RmDup toolshed.g2.bx.psu.edu/repos/devteam/samtools_rmdup/samtools_rmdup/2.0.1
38 BamLeftAlign toolshed.g2.bx.psu.edu/repos/devteam/freebayes/bamleftalign/1.3.1
39 CalMD toolshed.g2.bx.psu.edu/repos/devteam/samtools_calmd/samtools_calmd/2.0.2
40 Samtools view toolshed.g2.bx.psu.edu/repos/iuc/samtools_view/samtools_view/1.9+galaxy3
41 Samtools view toolshed.g2.bx.psu.edu/repos/iuc/samtools_view/samtools_view/1.9+galaxy3
42 Normal Reads __EXTRACT_DATASET__
43 Tumor reads __EXTRACT_DATASET__
44 QualiMap BamQC toolshed.g2.bx.psu.edu/repos/iuc/qualimap_bamqc/qualimap_bamqc/2.2.2d+galaxy3
45 QualiMap BamQC toolshed.g2.bx.psu.edu/repos/iuc/qualimap_bamqc/qualimap_bamqc/2.2.2d+galaxy3
46 VarScan somatic toolshed.g2.bx.psu.edu/repos/iuc/varscan_somatic/varscan_somatic/2.4.3.6
47 Extract dataset __EXTRACT_DATASET__
48 Extract dataset __EXTRACT_DATASET__
49 Split file toolshed.g2.bx.psu.edu/repos/bgruening/split_file_to_collection/split_file_to_collection/0.5.0
50 Split file toolshed.g2.bx.psu.edu/repos/bgruening/split_file_to_collection/split_file_to_collection/0.5.0
51 Apply rules __APPLY_RULES__
52 Apply rules __APPLY_RULES__
53 Collapse Collection toolshed.g2.bx.psu.edu/repos/nml/collapse_collections/collapse_dataset/4.2
54 Collapse Collection toolshed.g2.bx.psu.edu/repos/nml/collapse_collections/collapse_dataset/4.2
55 Select Grep1
56 Select Grep1

Outputs

ID Name Description Type
VarScan Output #main/VarScan Output n/a
  • File
analysis_metadata #main/analysis_metadata n/a
  • File
bamqc_html_normal #main/bamqc_html_normal n/a
  • File
bamqc_html_tumor #main/bamqc_html_tumor n/a
  • File
bamqc_normal_genome_results #main/bamqc_normal_genome_results n/a
  • File
bamqc_tumor_genome_results #main/bamqc_tumor_genome_results n/a
  • File
fastqc_html_normal_fw_after #main/fastqc_html_normal_fw_after n/a
  • File
fastqc_html_normal_fw_before #main/fastqc_html_normal_fw_before n/a
  • File
fastqc_html_normal_rv_after #main/fastqc_html_normal_rv_after n/a
  • File
fastqc_html_normal_rv_before #main/fastqc_html_normal_rv_before n/a
  • File
fastqc_html_tumor_fw_after #main/fastqc_html_tumor_fw_after n/a
  • File
fastqc_html_tumor_fw_before #main/fastqc_html_tumor_fw_before n/a
  • File
fastqc_html_tumor_rv_after #main/fastqc_html_tumor_rv_after n/a
  • File
fastqc_html_tumor_rv_before #main/fastqc_html_tumor_rv_before n/a
  • File
multiqc_html_post_trim #main/multiqc_html_post_trim n/a
  • File
multiqc_html_pre_trim #main/multiqc_html_pre_trim n/a
  • File

Version History

Version 1 (earliest) Created 27th Oct 2023 at 14:48 by Wolfgang Maier

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Frozen Version-1 508f246
help Creators and Submitter
Creator
  • Wolfgang Maier
Submitter
Citation
Maier, W. (2023). Variant calling from matched tumor/normal sample pair (hg38 version). WorkflowHub. https://doi.org/10.48546/WORKFLOWHUB.WORKFLOW.628.1
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Views: 3230   Downloads: 207   Runs: 0

Created: 27th Oct 2023 at 14:48

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