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Add deepvariant hpc scripts
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mariya committed Mar 26, 2024
1 parent 0bff528 commit e68c561
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39 changes: 39 additions & 0 deletions 01_hpc_processing/01_hpc_processing.sh
Original file line number Diff line number Diff line change
Expand Up @@ -129,3 +129,42 @@ java -Xmx8g -jar snpEff.jar -v GRCh38.99 \
REH_SNV.filtered.vcf.gz > REH.mutect.filtered.ann.vcf.gz


# SNV CALLING FOR VAF PLOTS USING DEEPVARIANT ##
singularity exec --bind /usr/lib/locale/ \
pepper_deepvariant_r0.8.sif \
run_pepper_margin_deepvariant call_variant \
-b ont.sorted.bam \
-f hg38.fa \
-o out \
-p ONT_pepper \
-t 30 \
--ont_r9_guppy5_sup

singularity exec \
--bind deepvariant_input:/input \
--bind deepvariant_output/illumina:/output \
--bind reference/:/reference \
deepvariant_latest.sif \
/opt/deepvariant/bin/run_deepvariant \
--model_type WGS \
--ref /reference/Homo_sapiens_assembly38.fasta \
--reads /input/fastq_data.recal.bam \
--output_vcf /output/REH-illumina.output.vcf.gz \
--output_gvcf /output/REH-illumina.output.g.vcf.gz \
--num_shards 16 \
--intermediate_results_dir /output/intermediate_results

singularity exec \
--bind deepvariant_input:/input \
--bind deepvariant_output/illumina:/output \
--bind reference/:/reference \
deepvariant_latest.sif \
/opt/deepvariant/bin/run_deepvariant \
--model_type PACBIO \
--ref /reference/hg38.fa \
--reads /input/pt_004_hifi-mapped.bam \
--output_vcf /output/REH-pacbio.output.vcf.gz \
--output_gvcf /output/REH-pacbio.output.g.vcf.gz \
--num_shards 16 \
--intermediate_results_dir /output/intermediate_results

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