diff --git a/docs/run-notes/19373_run_notes.md b/docs/run-notes/19373_run_notes.md index 35649b22febd76cf3e73e675de9c0bae5092cad9..e4dfad39a11c882282a603fce3ddc2b8591d20e5 100644 --- a/docs/run-notes/19373_run_notes.md +++ b/docs/run-notes/19373_run_notes.md @@ -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 +```