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Merge pull request #32 from UMCUGenetics/develop
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v1.4.0, Feature contamination (verifyBamID2)
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ellendejong authored May 19, 2021
2 parents e834db8 + a4a1fbe commit 9520623
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3 changes: 3 additions & 0 deletions .gitignore
Original file line number Diff line number Diff line change
Expand Up @@ -7,3 +7,6 @@ tools
files
wes_out
fingerprint_out

# VSCode
.vscode/
2 changes: 1 addition & 1 deletion NextflowModules
20 changes: 18 additions & 2 deletions WES.config
Original file line number Diff line number Diff line change
Expand Up @@ -23,6 +23,12 @@ params {
picard_bait = 'Tracks/SureSelect_CREv2_elidS30409818_Covered.list'
picard_target = 'Tracks/ENSEMBL_UCSC_merged_collapsed_sorted_v3_20bpflank.list'

// following resources are inside the VerifyBamID2 container (quay.io/biocontainers/verifybamid2:2.0.1--h32f71e1_2).
contamination_path_prefix='/usr/local/share/verifybamid2-2.0.1-2/resource/exome/1000g.phase3.10k.b37.exome.vcf.gz.dat'
contamination_sites_ud='/usr/local/share/verifybamid2-2.0.1-2/resource/exome/1000g.phase3.10k.b37.exome.vcf.gz.dat.UD'
contamination_sites_mu='/usr/local/share/verifybamid2-2.0.1-2/resource/exome/1000g.phase3.10k.b37.exome.vcf.gz.dat.mu'
contamination_sites_bed='/usr/local/share/verifybamid2-2.0.1-2/resource/exome/1000g.phase3.10k.b37.exome.vcf.gz.dat.bed'

vcftools_path = '/hpc/local/CentOS7/cog_bioinf/vcftools-0.1.14/bin'
plink_path = '/hpc/local/CentOS7/cog_bioinf/plink_1.9b3/'
king_path = '/hpc/local/CentOS7/cog_bioinf/king_1.4/'
Expand Down Expand Up @@ -234,8 +240,8 @@ process {

withLabel: MultiQC_1_10 {
cpus = 2
memory = '1G'
time = '5m'
memory = '5G'
time = '10m'

publishDir {
path = "$params.outdir/QC"
Expand Down Expand Up @@ -293,6 +299,16 @@ process {
}
}

withLabel: VERIFYBAMID_2_0_1_h32f71e1_2_VerifyBamID2 {
cpus = 1
memory = '5G'
time = '1h'

publishDir {
path = "$params.outdir/QC/VerifyBamID2"
mode = 'copy'
}
}
}

report {
Expand Down
6 changes: 5 additions & 1 deletion WES.nf
Original file line number Diff line number Diff line change
Expand Up @@ -32,6 +32,7 @@ include EstimateLibraryComplexity as PICARD_EstimateLibraryComplexity from './Ne
include CollectHsMetrics as PICARD_CollectHsMetrics from './NextflowModules/Picard/2.22.0/CollectHsMetrics.nf' params(genome:"$params.genome", bait:"$params.dxtracks_path/$params.picard_bait", target:"$params.dxtracks_path/$params.picard_target", optional: "METRIC_ACCUMULATION_LEVEL=null METRIC_ACCUMULATION_LEVEL=SAMPLE")
include Flagstat as Sambamba_Flagstat from './NextflowModules/Sambamba/0.7.0/Flagstat.nf'
include MultiQC from './NextflowModules/MultiQC/1.10/MultiQC.nf' params(optional:"--config $baseDir/assets/multiqc_config.yaml")
include VerifyBamID2 from './NextflowModules/VerifyBamID/2.0.1--h32f71e1_2/VerifyBamID2.nf'

def fastq_files = extractFastqPairFromDir(params.fastq_path)
def analysis_id = params.outdir.split('/')[-1]
Expand Down Expand Up @@ -93,11 +94,14 @@ workflow {
Sambamba_Flagstat(Sambamba_Merge.out)
GetStatsFromFlagstat(Sambamba_Flagstat.out.collect())

VerifyBamID2(Sambamba_Merge.out.groupTuple())

MultiQC(analysis_id, Channel.empty().mix(
FastQC.out,
PICARD_CollectMultipleMetrics.out,
PICARD_EstimateLibraryComplexity.out,
PICARD_CollectHsMetrics.out
PICARD_CollectHsMetrics.out,
VerifyBamID2.out.map{sample_id, self_sm -> [self_sm]}
).collect())

TrendAnalysisTool(
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14 changes: 14 additions & 0 deletions assets/multiqc_config.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -86,6 +86,8 @@ table_columns_visible:
summed_median: True
summed_mean: False
PERCENT_DUPLICATION: True
VerifyBAMID:
FREEMIX: True

table_cond_formatting_rules:
mqc-generalstats-picard-PCT_TARGET_BASES_20X:
Expand All @@ -95,3 +97,15 @@ table_cond_formatting_rules:
- lt: 96
fail:
- lt: 95
mqc-generalstats-verifybamid-FREEMIX:
pass:
- lt: 5
- eq: 5
fail:
- gt: 5
FREEMIX:
pass:
- lt: 5
- eq: 5
fail:
- gt: 5

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