diff --git a/alignment/markdups.sh b/alignment/markdups.sh index b794b25c4e26a1691252dce8ea5cae323f621b8e..9042ac32f3a34f6dc8866caba1afa4f090cbe720 100644 --- a/alignment/markdups.sh +++ b/alignment/markdups.sh @@ -57,7 +57,7 @@ elif [ $algo == 'fgbio_umi' ] then module load fgbio bwa/intel/0.7.15 samtools index -@ $SLURM_CPUS_ON_NODE ${sbam} - fgbio GroupReadsByUmi -s identity -i ${sbam} -o ${pair_id}.group.bam -e 0 -m 0 + fgbio GroupReadsByUmi -s identity -i ${sbam} -o ${pair_id}.group.bam --family-size-histogram ${pair_id}.umihist.txt -e 0 -m 0 fgbio CallMolecularConsensusReads -i ${pair_id}.group.bam -p consensus -M 1 -o ${pair_id}.consensus.bam -S ':none:' samtools index ${pair_id}.consensus.bam samtools fastq -1 ${pair_id}.consensus.R1.fastq -2 ${pair_id}.consensus.R2.fastq ${pair_id}.consensus.bam diff --git a/variants/annotvcf.sh b/variants/annotvcf.sh index d3225209671997321d6a36d9befaa29fd842ed21..22a44883f21badeb071b4b6afa2e6d3a55a94108 100755 --- a/variants/annotvcf.sh +++ b/variants/annotvcf.sh @@ -23,7 +23,7 @@ done shift $(($OPTIND -1)) source /etc/profile.d/modules.sh -module load python/2.7.x-anaconda bedtools/2.26.0 samtools/1.6 snpeff/4.3q +module load bedtools/2.26.0 samtools/1.6 snpeff/4.3q if [[ $index_path == '/project/shared/bicf_workflow_ref/human/GRCh38/hisat_index' ]] then @@ -32,8 +32,8 @@ 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} + tabix -f ${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,GNOMAD_HG19_VARIANT -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 @@ -41,7 +41,7 @@ then else if [[ $index_path == '/project/shared/bicf_workflow_ref/mouse/GRCm38' ]] then - snpeffvers='GRCh38.86' + snpeffvers='GRCm38.86' elif [[ $index_path == '/project/shared/bicf_workflow_ref/human/GRCh37' ]] then snpeffvers='GRCh37.75'