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Merge pull request #50 from UMCUGenetics/release/v1.7.0
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Release v1.7.0
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melferink authored Jan 20, 2022
2 parents 637d628 + aab8ff7 commit 1881edc
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Showing 3 changed files with 8 additions and 17 deletions.
4 changes: 2 additions & 2 deletions WES.config
Original file line number Diff line number Diff line change
Expand Up @@ -6,7 +6,7 @@ params {

gatk_rtc_options = '--known /hpc/diaggen/data/databases/GATK_resource_bundle/b37/1000G_phase1.indels.b37.vcf.gz --known /hpc/diaggen/data/databases/GATK_resource_bundle/b37/Mills_and_1000G_gold_standard.indels.b37.vcf.gz'

gatk_hc_interval_list = 'Tracks/ENSEMBL_UCSC_merged_collapsed_sorted_v3_CREv2_100bpflank.interval_list'
gatk_hc_interval_list = 'Tracks/ENSEMBL_UCSC_merged_collapsed_sorted_v3_CREv2_SSv7_100bpflank.interval_list'
gatk_hc_options = '-stand_call_conf 10 --dbsnp /hpc/diaggen/data/databases/GATK_resource_bundle/b37/dbsnp_137.b37.vcf.gz'

gatk_snp_filter = "-filter 'QD < 2.0' -filterName SNP_LowQualityDepth -filter 'MQ < 40.0' -filterName SNP_MappingQuality -filter 'FS > 60.0' -filterName SNP_StrandBias -filter 'HaplotypeScore > 13.0' -filterName SNP_HaplotypeScoreHigh -filter 'MQRankSum < -12.5' -filterName SNP_MQRankSumLow -filter 'ReadPosRankSum < -8.0' -filterName SNP_ReadPosRankSumLow"
Expand All @@ -22,7 +22,7 @@ params {

exomedepth_path= '/hpc/diaggen/software/production/Dx_resources/ExomeDepth/'

picard_bait = 'Tracks/SureSelect_CREv2_elidS30409818_Covered.list'
picard_bait = 'Tracks/SureSelect_v7_elidS31285117_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).
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12 changes: 6 additions & 6 deletions assets/multiqc_config.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -101,16 +101,16 @@ table_cond_formatting_rules:
- lt: 95
mqc-generalstats-verifybamid-FREEMIX:
pass:
- lt: 5
- eq: 5
- lt: 1
- eq: 1
fail:
- gt: 5
- gt: 1
FREEMIX:
pass:
- lt: 5
- eq: 5
- lt: 1
- eq: 1
fail:
- gt: 5
- gt: 1

custom_data:
exoncov:
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9 changes: 0 additions & 9 deletions run_nextflow_wes.sh
Original file line number Diff line number Diff line change
Expand Up @@ -8,13 +8,6 @@ input=`realpath -e $1`
output=`realpath $2`
email=$3

design=${4-default}
if [ $design == "SSv7" ]; then
echo " #### SSv7 design target files are used for the analysis ####"
gatk_hc_interval_list='--gatk_hc_interval_list Tracks/ENSEMBL_UCSC_merged_collapsed_sorted_v3_CREv2_SSv7_100bpflank.interval_list'
picard_bait='--picard_bait Tracks/SureSelect_v7_elidS31285117_Covered.list'
fi

mkdir -p $output && cd $output
mkdir -p log

Expand Down Expand Up @@ -42,8 +35,6 @@ module load Java/1.8.0_60
--fastq_path $input \
--outdir $output \
--email $email \
${gatk_hc_interval_list:-""} \
${picard_bait:-""} \
-profile slurm \
-resume -ansi-log false
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