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prep_files.sh
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prep_files.sh
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python3 ./wes.py WES \
-i /mnt/gs21/scratch/mansourt/wes_gatk/raw_data \
-o /mnt/gs21/scratch/mansourt/wes_gatk/output \
--reference-fasta /mnt/home/mansourt/annDB/broad_hg38/Homo_sapiens_assembly38.fasta \
--bed-file /mnt/gs21/scratch/mansourt/wes_gatk/exome_bed/sureSelect_V6_60M.bed \
--gff-file /mnt/home/mansourt/annDB/broad_hg38/Homo_sapiens.GRCh38.109.gff3.gz \
--nirvana-path /mnt/home/mansourt/annDB/Nirvana \
--annovar-path /mnt/home/mansourt/annDB/annovar_source/annovar \
--known-variants-snps /mnt/home/mansourt/annDB/broad_hg38/Homo_sapiens_assembly38.dbsnp138.vcf \
--known-variants-indels /mnt/home/mansourt/annDB/broad_hg38/Mills_and_1000G_gold_standard.indels.hg38.vcf.gz \
--known-variants-indels2 /mnt/home/mansourt/annDB/broad_hg38/Homo_sapiens_assembly38.known_indels.vcf.gz \
--reference-index /mnt/home/mansourt/annDB/broad_hg38/Homo_sapiens_assembly38.fasta \
--svd-prefix /mnt/home/mansourt/annDB/broad_hg38/Homo_sapiens_assembly38.contam \
--generate-confs-only \
--threads 12