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Fix 0.0X Coverage for targeted Data #795

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1 change: 1 addition & 0 deletions CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -37,6 +37,7 @@ and this project adheres to [Semantic Versioning](http://semver.org/spec/v2.0.0.
- [#788](https://github.com/SciLifeLab/Sarek/pull/788) - Fix `genome_base` path in `munin.config`
- [#788](https://github.com/SciLifeLab/Sarek/pull/788) - Fix `markdup_java_options` definition
- [#788](https://github.com/SciLifeLab/Sarek/pull/788) - Include `conf/resources.config` in `btb` profile
- [#795](https://github.com/SciLifeLab/Sarek/pull/795) - Use BED file for [QualiMap coverage calculation](https://github.com/SciLifeLab/Sarek/issues/794) on Targeted Data

## [2.3.FIX1] - 2019-03-04

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4 changes: 2 additions & 2 deletions docs/USE_CASES.md
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Expand Up @@ -170,8 +170,8 @@ In this case, you need to start with `--step=recalibrate` (see previous section)

## Processing targeted (whole exome or panel) sequencing data

The recommended flow for thrgeted sequencing data is to use the whole genome workflow as it is, but also provide a BED file containing targets for variant calling.
The Strelka part of the workflow will pick up these intervals, and activate the `--exome` flag to process deeper coverage. It is adviced to pad the variant calling
The recommended flow for targeted sequencing data is to use the whole genome workflow as it is, but also provide a BED file containing targets for all steps using the `--targetBED` option.
The workflow will pick up these intervals, and activate the `--exome` flag to process deeper coverage. It is adviced to pad the variant calling
regions (exons or the target) to some extent before submitting to the workflow. To add the target BED file configure the flow like:

```bash
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3 changes: 3 additions & 0 deletions main.nf
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Expand Up @@ -207,19 +207,22 @@ process RunBamQCmapped {

input:
set idPatient, status, idSample, idRun, file(bam) from mappedBamForQC
file(targetBED) from Channel.value(params.targetBED ? file(params.targetBED) : "null")

output:
file("${bam.baseName}") into bamQCmappedReport

when: !params.noReports && !params.noBAMQC

script:
use_bed = params.targetBED ?: "-gff ${targetBED}" : ''
"""
qualimap --java-mem-size=${task.memory.toGiga()}G \
bamqc \
-bam ${bam} \
--paint-chromosome-limits \
--genome-gc-distr HUMAN \
$use_bed \
-nt ${task.cpus} \
-skip-duplicated \
--skip-dup-mode 0 \
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