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Merge pull request #192 from RoanKanninga/master
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 fix coverageCalculations issue + check for bedfile
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marieke-bijlsma committed Mar 26, 2018
2 parents 8e88bbf + ad5d807 commit ea01f2a
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Showing 4 changed files with 53 additions and 4 deletions.
1 change: 1 addition & 0 deletions README.md
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Expand Up @@ -16,6 +16,7 @@ The bwa-mem command from Burrows-Wheeler Aligner(BWA) [[2]](#r2) is used to alig
The GATK [[4]](#r4) HaplotypeCaller estimates the most likely genotypes and allele frequencies in an alignment using a Bayesian likelihood model for every position of the genome regardless of whether a variant was detected at that site or not. This information can later be used in the project based genotyping step.
A joint analysis has been performed of all the samples in the project. This leads to a posterior probability of a variant allele at a site. SNPs and small Indels are written to a VCF file, along with information such as genotype quality, allele frequency, strand bias and read depth for that SNP/Indel. Based on quality thresholds from the GATK "best practices" [[5]](#r5). The SNPs and indels are filtered and marked as Lowqual or Pass resulting in a final VCF file.


### References
<a name="r1"> 1. Andrews S. (2010). FastQC: a quality control tool for high throughput sequence data. Available online at:http://www.bioinformatics.babraham.ac.uk/projects/fastqc </a>

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2 changes: 1 addition & 1 deletion protocols/CoverageCalculations.sh
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Expand Up @@ -78,7 +78,7 @@ then

awk -v OFS='\t' '{print $1,$3}' "${sampleNameID}.${perTarget}.coveragePerTarget.sample_interval_summary" | sed '1d' > "${sampleNameID}.${perTarget}.coveragePerTarget.coveragePerTarget.txt.tmp.tmp"
sort -V "${sampleNameID}.${perTarget}.coveragePerTarget.coveragePerTarget.txt.tmp.tmp" > "${sampleNameID}.${perTarget}.coveragePerTarget.coveragePerTarget.txt.tmp"
perl -pi -e 's|-|\^|' "${perTargetDir}/${perTarget}.genesOnly" > "${sampleNameID}.${perTarget}.coveragePerTarget.genesOnly.tmp"
perl -p -e 's|-|\^|' "${perTargetDir}/${perTarget}.genesOnly" > "${sampleNameID}.${perTarget}.coveragePerTarget.genesOnly.tmp"
paste "${sampleNameID}.${perTarget}.coveragePerTarget.coveragePerTarget.txt.tmp" "${sampleNameID}.${perTarget}.coveragePerTarget.genesOnly.tmp" > "${sampleNameID}.${perTarget}.coveragePerTarget_inclGenes.txt"
##Paste command produces ^M character

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27 changes: 25 additions & 2 deletions protocols/CreateExternSamplesProjects.sh
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Expand Up @@ -33,6 +33,10 @@
#list lane
#string ngsUtilsVersion

#string dataDir
#string coveragePerBaseDir
#string coveragePerTargetDir

set -e
set -u

Expand Down Expand Up @@ -113,10 +117,29 @@ extract_samples_from_GAF_list.pl --i "${worksheet}" --o "${projectJobsDir}/${pro

batching="_small"

capturingKitProject=$(python ${EBROOTNGS_DNA}/scripts/getCapturingKit.py "${projectJobsDir}/${project}.csv")
capturingKitProject=$(python ${EBROOTNGS_DNA}/scripts/getCapturingKit.py "${projectJobsDir}/${project}.csv" | sed 's|\\||' )
captKit=$(echo "capturingKitProject" | awk 'BEGIN {FS="/"}{print $2}')

if [ ! -d "${dataDir}/${capturingKitProject}" ]
then
echo "Bedfile does not exist! Exiting"
exit 1
fi

if [[ "${capturingKitProject}" == *"Exoom"* || "${capturingKitProject}" == *"All_Exon_v1"* || "${capturingKitProject}" == *"wgs"* || "${capturingKitProject}" == *"WGS"* ]]
then
batching="_chr"
batching="_chr"
if [ ! -e "${coveragePerTargetDir}/${captKit}/${captKit}" ]
then
echo "Bedfile in ${coveragePerTargetDir} does not exist! Exiting"
exit 1
fi
else
if [ ! -e "${coveragePerBaseDir}/${captKit}/${captKit}" ]
then
echo "Bedfile in ${coveragePerBaseDir} does not exist! Exiting"
exit 1
fi
fi

if [ -f .compute.properties ];
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27 changes: 26 additions & 1 deletion protocols/CreateInhouseProjects.sh
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Expand Up @@ -31,6 +31,11 @@
#string ngsversion
#string ngsUtilsVersion

#string dataDir

#string coveragePerBaseDir
#string coveragePerTargetDir

#string project
#string logsDir

Expand Down Expand Up @@ -118,12 +123,32 @@ fi

batching="_small"

capturingKitProject=$(python ${EBROOTNGS_DNA}/scripts/getCapturingKit.py "${projectJobsDir}/${project}.csv")
capturingKitProject=$(python ${EBROOTNGS_DNA}/scripts/getCapturingKit.py "${projectJobsDir}/${project}.csv" | sed 's|\\||')
captKit=$(echo "capturingKitProject" | awk 'BEGIN {FS="/"}{print $2}')

if [ ! -d "${dataDir}/${capturingKitProject}" ]
then
echo "Bedfile does not exist! Exiting"
exit 1
fi

if [[ "${capturingKitProject}" == *"Exoom"* || "${capturingKitProject}" == *"All_Exon_v1"* || "${capturingKitProject}" == *"wgs"* || "${capturingKitProject}" == *"WGS"* ]]
then
batching="_chr"
if [ ! -e "${coveragePerTargetDir}/${captKit}/${captKit}" ]
then
echo "Bedfile in ${coveragePerTargetDir} does not exist! Exiting"
exit 1
fi
else
if [ ! -e "${coveragePerBaseDir}/${captKit}/${captKit}" ]
then
echo "Bedfile in ${coveragePerBaseDir} does not exist! Exiting"
exit 1
fi
fi


echo "BATCHIDLIST=${EBROOTNGS_DNA}/batchIDList${batching}.csv"

sh "${EBROOTMOLGENISMINCOMPUTE}/molgenis_compute.sh" \
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