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Automation of the workflow originally developped by Irene Lobon
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Mutect2 variant calling
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Quality filtering
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Multi sample merging and rescuing
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.. TO BE ADDED: annotation
Code Snippets
51 52 53 54 55 56 57 58 59 60 61 62 | shell: "java -jar $EBROOTGATK/gatk-package-4.1.8.1-local.jar Mutect2 \ --native-pair-hmm-threads {threads} \ -R {input.ref} \ -L {input.intv} \ -I {input.tb} \ -I {input.nb} \ -normal {params.nn} \ -germline-resource {input.gr} \ -pon {input.pon} \ --f1r2-tar-gz {output.n} \ -O {output.v}" |
81 82 83 84 | shell: "java -jar $EBROOTGATK/gatk-package-4.1.8.1-local.jar LearnReadOrientationModel \ -I {input} \ -O {output}" |
108 109 110 111 112 113 114 115 | shell: """ java -jar $EBROOTGATK/gatk-package-4.1.8.1-local.jar FilterMutectCalls \ -R {input.r} \ -V {input.v} \ --ob-priors {input.priors} \ -O {output.v} """ |
134 135 | shell: "tabix -p vcf {input}" |
157 158 159 160 161 162 | shell: """ #echo "##INFO=<ID=AS_FilterStatus,Number=A" | sed "s/##INFO=<ID=AS_FilterStatus,Number=A/##INFO=<ID=AS_FilterStatus,Number=1/" && touch {output.v} && touch {output.i} /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools norm -m -any {input.v} | sed "s/##INFO=<ID=AS_FilterStatus,Number=A/##INFO=<ID=AS_FilterStatus,Number=1/" | bgzip > {output.v} /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools tabix {output.v} """ |
188 189 190 191 192 193 | shell: """ /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools view \ -i '(ROQ>{params.ROQ} & AD[1:1]>{params.AD}) & (FILTER="PASS" | FILTER="clustered_events" )' -Oz -o {output.v} {input.v} /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools tabix {output.v} """ |
211 212 213 214 215 | shell: """ cp {input.v} {output.v} cp {input.i} {output.i} """ |
235 236 237 238 | shell: """ zcat {input.v} | grep -v "^#" | cut -f1-5 | sort -V | uniq > {output} """ |
261 262 263 264 265 266 267 268 269 270 | shell: """ zcat {input.v} | grep "^#" | bgzip >{output.v} for x in $(seq 1 1000 $(wc -l {input.pos} | awk '{{print $1}}')) do y=$((x+999)) zcat {input.v} | grep -v "^#" | grep --line-buffered -f <(sed -n "${{x}},${{y}}p" {input.pos}) - | bgzip >> {output.v} done /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools tabix {output.v} """ |
292 293 294 295 296 | shell: """ /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools merge -0 -Oz -o {output.v} --force-samples {input.v} /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools tabix {output.v} """ |
321 322 323 324 325 326 327 328 | shell: """ echo {params.GL} > {output.s} /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools query -l {input.v} | grep -v {params.GL} >> {output.s} /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools view -S {output.s} {input.v} -Oz -o {output.v1} /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools sort {output.v1} -Oz -o {output.v2} tabix -p vcf {output.v2} """ |
348 349 350 351 | shell: """ /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools norm -m -any {input.v} | bgzip > {output} """ |
377 378 379 380 381 382 383 384 385 386 | shell: """ # Make a list of bams in VCF order echo {input.nb} > {output.bamlist} for i in {input.tb}; do echo $i >> {output.bamlist}; done /nemo/lab/turajlics/home/users/fidanr/bcftools/bin/bcftools query -l {input.v} >> {output.s} while read i; do grep $i {output.bamlist} >> {output.obamlist}; done< {output.s} #Genotype (SNVs, MNVs and indels) python3.6 {params.res} {input.v} {output.obamlist} {output.v} """ |
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