diff --git a/alignment/hisat_genotype.sh b/alignment/hisat_genotype.sh index 6e225ebcf6f4ceebecc3a15982d70dc9ef4e9dd1..7e0655ecd393c73483cb63201d266c3c554b687c 100644 --- a/alignment/hisat_genotype.sh +++ b/alignment/hisat_genotype.sh @@ -11,10 +11,9 @@ usage() { exit 1 } OPTIND=1 # Reset OPTIND -while getopts :r:x:y:p:uh opt +while getopts :x:y:p:uh opt do case $opt in - r) index_path=$OPTARG;; x) fq1=$OPTARG;; y) fq2=$OPTARG;; u) umi='umi';; @@ -26,7 +25,7 @@ done shift $(($OPTIND -1)) # Check for mandatory options -if [[ -z $pair_id ]] || [[ -z $index_path ]]; then +if [[ -z $pair_id ]]; then usage fi @@ -42,9 +41,9 @@ diff $fq1 $fq2 > difffile if [ -s difffile ] then -hisatgenotype_extract_reads.py -p 16 --database-list hla --base /project/shared/bicf_workflow_ref/hisat_genotype_hla/genotype_genome -1 $fq1 -2 $fq2 --out-dir hisatgeno_out +hisatgenotype_extract_reads.py -p 16 --database-list hla --base /project/shared/bicf_workflow_ref/human/hisat_genotype_hla/genotype_genome -1 $fq1 -2 $fq2 --out-dir hisatgeno_out else -hisatgenotype_extract_reads.py -p 16 --database-list hla --base /project/shared/bicf_workflow_ref/hisat_genotype_hla/genotype_genome -U $fq1 --out-dir hisatgeno_out +hisatgenotype_extract_reads.py -p 16 --database-list hla --base /project/shared/bicf_workflow_ref/human/hisat_genotype_hla/genotype_genome -U $fq1 --out-dir hisatgeno_out fi hisatgenotype_locus_samples.py -p 16 --region-list hla.A,hla.B,hla.C,hla.DQA1,hla.DQB1,hla.DRB1,hla.DPB1 --assembly --read-dir hisatgeno_out --out-dir ${pair_id}.hisat_hla > ${pair_id}.hisat_hla.txt diff --git a/variants/annotvcf.sh b/variants/annotvcf.sh index d3225209671997321d6a36d9befaa29fd842ed21..1f4d9720de5b41baf5b9b4dd3adaa0e807015c74 100755 --- a/variants/annotvcf.sh +++ b/variants/annotvcf.sh @@ -33,7 +33,7 @@ fi if [[ $index_path == '/project/shared/bicf_workflow_ref/human/GRCh38' ]] then tabix ${unionvcf} - bcftools annotate -Oz -a ${index_path}/gnomad.txt.gz -h ${index_path}/gnomad.header -c CHROM,POS,REF,ALT,HG19_VARIANT,GNOMAD_HOM,GNOMAD_AF,AF_POPMAX -o ${pair_id}.gnomad.vcf.gz ${unionvcf} + bcftools annotate -Oz -a ${index_path}/gnomad.txt.gz -h ${index_path}/gnomad.header -c CHROM,POS,REF,ALT,GNOMAD_HOM,GNOMAD_AF,AF_POPMAX -o ${pair_id}.gnomad.vcf.gz ${unionvcf} tabix ${pair_id}.gnomad.vcf.gz bcftools annotate -Oz -a ${index_path}/repeat_regions.bed.gz -o ${pair_id}.repeat.vcf.gz --columns CHROM,FROM,TO,RepeatType -h /project/shared/bicf_workflow_ref/RepeatType.header ${pair_id}.gnomad.vcf.gz java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-downstream -no-upstream -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.repeat.vcf.gz | java -jar $SNPEFF_HOME/SnpSift.jar annotate -id ${index_path}/dbSnp.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CLNSIG,CLNDSDB,CLNDSDBID,CLNDBN,CLNREVSTAT,CLNACC ${index_path}/clinvar.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CNT ${index_path}/cosmic.vcf.gz - | java -Xmx10g -jar $SNPEFF_HOME/SnpSift.jar dbnsfp -v -db ${index_path}/dbNSFP.txt.gz - | bgzip > ${pair_id}.annot.vcf.gz diff --git a/variants/svcalling.sh b/variants/svcalling.sh index 17bc77001347e37a528075d1f4da81ba0acf28c4..512fea26b84120c6c152a7de4b6fca04cadf5611 100755 --- a/variants/svcalling.sh +++ b/variants/svcalling.sh @@ -11,7 +11,7 @@ usage() { exit 1 } OPTIND=1 # Reset OPTIND -while getopts :r:p:b:i:e:n:a:h opt +while getopts :r:p:b:i:n:a:h opt do case $opt in r) index_path=$OPTARG;;