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Merge pull request #11 from TRON-Bioinformatics/add-PON-documentation
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add missing documentation on PON
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priesgo committed Jun 14, 2024
2 parents d668aa6 + 6877667 commit efc439e
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3 changes: 3 additions & 0 deletions README.md
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Expand Up @@ -58,6 +58,7 @@ Optional input:
* input_normal_bam: comma separated list of normal BAMs (alternative to --input_files)
* gnomad: path to the gnomad VCF or other germline resource (recommended). If not provided the contamination will
not be estimated and the filter of common germline variants will be disabled
* pon: path to the panel of normals VCF
* intervals: path to a BED file containing the regions to analyse
* output: the folder where to publish output (default: output)
* enable_bam_output: outputs a new BAM file with the Mutect2 reassembly of reads (default: false)
Expand Down Expand Up @@ -161,6 +162,8 @@ The multiple VCFs need to be combined with the GATK tool "CreateSomaticPanelOfNo

This is implemented in the pipeline `mutect2_pon.vcf`.

Once the panel of normals is created pass it to the workflow using the parameter `--pon`.

### Configuring Funcotator

Funcotator annotation is an optional step. To configure funcotator follow the indications here https://gatk.broadinstitute.org/hc/en-us/articles/360035889931-Funcotator-Information-and-Tutorial.
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3 changes: 2 additions & 1 deletion nextflow.config
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Expand Up @@ -42,7 +42,7 @@ env {
// Capture exit codes from upstream processes when piping
process.shell = ['/bin/bash', '-euo', 'pipefail']

VERSION = '1.8.0'
VERSION = '1.8.1'
DOI = 'https://zenodo.org/badge/latestdoi/355860788'

manifest {
Expand Down Expand Up @@ -78,6 +78,7 @@ Optional input:
* input_normal_bam: comma separated list of normal BAMs (alternative to --input_files)
* gnomad: path to the gnomad VCF or other germline resource (recommended). If not provided the contamination will
not be estimated and the filter of common germline variants will be disabled
* pon: path to the panel of normals VCF
* intervals: path to a BED file containing the regions to analyse
* output: the folder where to publish output
* enable_bam_output: outputs a new BAM file with the Mutect2 reassembly of reads (default: false)
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