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igmmbioinformatics
trio-whole-exome
Commits
494d91cf
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494d91cf
authored
3 years ago
by
ameyner2
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Set up and pre-processing for shared affected proband analysis
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docs/run-notes/19373_run_notes.md
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494d91cf
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@@ -89,4 +89,74 @@ qsub -v PLATE_ID=${PLATE_ID},PROJECT_ID=${PROJECT_ID},VERSION_N=${VERSION_N} -J
# Shared affected analysis
Changed father for 20211005_Ansari_Morad_19373_438214 back to affected in params family PED file
Changed father for 20211005_Ansari_Morad_19373_438214 back to affected in params family PED file and in PED version.
## Set-up
```
export SOURCE_DIR=/scratch/u035/project/trio_whole_exome/analysis/output
export BATCH_ID=20211005_Ansari_Morad
export BATCH_NUM=20211005
export PLATE_ID=19373
export VERSION_N=v1
export PROJECT_ID=20211006_19373_438214
export SOURCE_DIR=${SOURCE_DIR}/${VERSION_N}_${BATCH_NUM}
/home/u035/project/scripts/NHS_WES_trio_setup.sh &> v1_20211005_Ansari_Morad.NHS_WES_trio_setup.log
mv v1_20211005_Ansari_Morad.NHS_WES_trio_setup.log ../20211006_19373_438214/LOG/
```
## Remove other families & copy DECIPHER id map
```
cd ../20211006_19373_438214
cp ../20211006_19373/DECIPHER_INTERNAL_IDs.txt ./
```
Edit
`DECIPHER_INTERNAL_IDs.txt`
to remove other families.
```
cd PED
rm 20211005_Ansari_Morad_19373_438169.ped 20211005_Ansari_Morad_19373_438236.ped 20211005_Ansari_Morad_19373_451595.ped
cd ../VCF/
rm 19373_438169-gatk-haplotype-annotated.vcf.gz 19373_438236-gatk-haplotype-annotated.vcf.gz 19373_451595-gatk-haplotype-annotated.vcf.gz
```
## Pre-processing
```
BATCH_ID=20211005_Ansari_Morad
PLATE_ID=19373
FAMILY_ID=438214
cd /scratch/u035/project/trio_whole_exome/analysis/20211006_19373_438214/PED
cp ${BATCH_ID}_${PLATE_ID}_${FAMILY_ID}.ped ${BATCH_ID}_${PLATE_ID}_${FAMILY_ID}.full.ped
```
Edited PED file to only affected individuals (child & father)
```
19373_438214 130221_438214 0 0 1 2
19373_438214 130220_438214 0 0 1 2
```
Copy and pre-process VCF files
```
cd ../VCF
mv 19373_438214-gatk-haplotype-annotated.vcf.gz 19373_438214-gatk-haplotype-annotated.full.vcf.gz
tabix 19373_438214-gatk-haplotype-annotated.vcf.gz
GATK3=/home/u035/project/software/GenomeAnalysisTK-3.8/GenomeAnalysisTK.jar
REF_GENOME=/home/u035/project/resources/hg38.fa
aff_kid_1_id=130221
aff_kid_2_id=130220
time java -Xmx24g -jar ${GATK3} -T SelectVariants \
-R ${REF_GENOME} \
-V ${PLATE_ID}_${FAMILY_ID}-gatk-haplotype-annotated.full.vcf.gz \
-sn ${aff_kid_1_id}_${FAMILY_ID} \
-sn ${aff_kid_2_id}_${FAMILY_ID} \
-jdk_deflater \
-jdk_inflater \
-o ${PLATE_ID}_${FAMILY_ID}-gatk-haplotype-annotated.vcf.gz \
-env
```
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