diff --git a/variants/norm_annot.sh b/variants/norm_annot.sh index a9e869a2e91317ba19c817761da88341bbfecba8..1f05c4eb73ac1cf2174999ac1e5f665d322d52b5 100755 --- a/variants/norm_annot.sh +++ b/variants/norm_annot.sh @@ -15,6 +15,7 @@ do case $opt in p) pair_id=$OPTARG;; v) vcf=$OPTARG;; + r) index_path=$OPTARG;; h) usage;; esac done @@ -25,6 +26,15 @@ baseDir="`dirname \"$0\"`" source /etc/profile.d/modules.sh module load bedtools/2.26.0 samtools/gcc/1.8 bcftools/gcc/1.8 snpeff/4.3q +if [[ -a "${index_path}/genome.fa" ]] +then + reffa="${index_path}/genome.fa" + dict="${index_path}/genome.dict" +else + echo "Missing Fasta File: ${index_path}/genome.fa" + usage + +fi perl $baseDir\/uniform_vcf_gt.pl $pair_id $vcf bgzip -f ${pair_id}.uniform.vcf diff --git a/variants/pindel.sh b/variants/pindel.sh index 452d2585a0b8f7d80d2266a35f209c2764594432..9eba0c20b45b2f48c5c9747250ca18330e04d581 100755 --- a/variants/pindel.sh +++ b/variants/pindel.sh @@ -61,5 +61,12 @@ tabix pindel.vcf.gz bash $baseDir/norm_annot.sh -r ${index_path} -p pindel -v pindel.vcf.gz perl $baseDir/parse_pindel.pl ${pair_id} pindel.norm.vcf.gz java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.indel.vcf |bgzip > ${pair_id}.pindel_indel.vcf.gz -java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.dup.vcf | bedtools intersect -header -b ${idtbed} -a stdin | bgzip > ${pair_id}.pindel_tandemdup.vcf.gz + +if [[ -a $idtbed ]] +then + java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.dup.vcf | bedtools intersect -header -b ${idtbed} -a stdin | bgzip > ${pair_id}.pindel_tandemdup.vcf.gz +else + java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.dup.vcf | bgzip > ${pair_id}.pindel_tandemdup.vcf.gz +fi + java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.sv.vcf | bgzip > ${pair_id}.pindel_sv.vcf.gz