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Cristian Gonzalez-Colin (cgonzalez@lji.org)
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Vijayanand Lab (https://www.lji.org/labs/vijayanand/)
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La Jolla Institute for Immunology (LJI)
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La Jolla, CA USA
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Current v
Code Snippets
66 67 68 69 | run: smlldonor = params.donor smlldonor = smlldonor.replace("reseq", "") shell("{bwa_app} mem -M -t {threads} -R '@RG\\tID:{smlldonor}\\tSM:{smlldonor}\\tPL:ILLUMINA' {input.fasta_ref} {input.R1} {input.R2} | samtools view -S -bh - > {output.map_file} ") |
80 81 82 83 84 | run: if len(input) == 1: shell("cp {input.run} {output.bam} ") else: shell("{samtools_app} merge --threads {threads} {output.bam} {input.run} {input.reseq} ") |
93 94 | shell: "{samtools_app} sort -@ {threads} {input.bam_file} -o {output.bam_sort}" |
105 106 107 | shell: "java -jar {picard_app} MarkDuplicates I={input.bam_file} " "O={output.bam_noDup} M={output.dup_file} REMOVE_DUPLICATES={params.rm_dup} " |
115 116 | shell: "{samtools_app} stats {input.bam_file} --threads {threads} > {output.txt_file}" |
124 125 126 | shell: "java -jar {picard_app} CollectWgsMetrics I={input.bam_file} " "O={output.collect} R={input.fasta_ref} " |
133 134 | shell: "{samtools_app} index {input.bam_file} {output.index_file}" |
150 151 152 153 154 | shell: "{gatk_app} BaseRecalibrator -I {input.bam_file} -R {input.fasta_ref} " " --known-sites {params.snps_1000} --known-sites {params.indels_Mills} " " --known-sites {params.hg38_indels} --known-sites {params.hg38_snps} " " --known-sites {params.snps_hapmap} -O {output.recal_table} " |
166 167 168 169 170 | shell: "{gatk_app} --java-options \"-Djava.io.tmpdir={params.tempdir} -Xms2G -Xmx2G -XX:ParallelGCThreads=2\" ApplyBQSR " " -I {input.bam} -R {input.fasta_ref} " " --bqsr-recal-file {input.recal_table} --create-output-bam-index true " " -O {output.bamfile}" |
179 180 181 | shell: "{gatk_app} HaplotypeCaller " "-I {input.bam_file} -R {input.fasta_ref} -O {output.vcf_file} -ERC GVCF " |
190 191 | shell: "{samtools_app} view -hb -q 20 {input.bam_file} > {output.filter_bam}" |
201 202 | shell: "grep -w {params.chr} {input.interval_file} > {output.chr_file}" |
213 214 215 216 | run: iFiles = " ".join(["-V " + file for file in input.vcf_file ]) shell("mkdir -p " + params.tempdir) shell("{gatk_app} GenomicsDBImport " + iFiles + " --genomicsdb-workspace-path {output.database} -L {input.interval_file} --tmp-dir {params.tempdir}") |
225 226 | shell: "{gatk_app} --java-options \"-Xmx4g\" GenotypeGVCFs -R {input.fasta_ref} -V gendb://{input.database} -O {output.cohort_vcf}" |
233 234 235 | run: iFiles = " ".join(["-I " + file for file in input.vcf_files ]) shell("java -jar {picard_app} GatherVcfs " + iFiles + " -O {output.cohort} ") |
243 244 | shell: "{bcftools_app} norm -f {input.fasta_ref} -m -any -Oz -o {output.cohort} {input.vcf_file} " |
251 252 | shell: "tabix -p vcf {input.cohort} " |
268 269 270 271 272 273 274 275 276 277 278 279 280 281 | shell: "{gatk_app} --java-options \"-Djava.io.tmpdir={params.tempdir} -Xms4G -Xmx4G -XX:ParallelGCThreads=2\" VariantRecalibrator \ -tranche 100.0 -tranche 99.95 -tranche 99.9 -tranche 99.8 \ -tranche 99.5 -tranche 99.0 -tranche 97.0 -tranche 96.0 \ -tranche 95.0 -tranche 94.0 \ -tranche 93.5 -tranche 93.0 -tranche 92.0 -tranche 91.0 -tranche 90.0 \ -R {input.fasta_ref} \ -V {input.cohort} \ --resource:hapmap,known=false,training=true,truth=true,prior=15.0 {input.snps_hapmap} \ --resource:omni,known=false,training=true,truth=false,prior=12.0 {input.snps_omni} \ --resource:1000G,known=false,training=true,truth=false,prior=10.0 {input.snps_1000} \ -an QD -an MQ -an MQRankSum -an ReadPosRankSum -an FS -an SOR \ -mode SNP -O {output.recal} --tranches-file {output.tranches} \ --rscript-file {output.script} " |
296 297 298 299 300 301 302 303 304 305 306 307 308 | shell: "{gatk_app} --java-options \"-Djava.io.tmpdir={params.tempdir} -Xms4G -Xmx4G -XX:ParallelGCThreads=2\" VariantRecalibrator \ -tranche 100.0 -tranche 99.95 -tranche 99.9 -tranche 99.8 \ -tranche 99.5 -tranche 99.0 -tranche 97.0 -tranche 96.0 \ -tranche 95.0 -tranche 94.0 -tranche 93.5 -tranche 93.0 \ -tranche 92.0 -tranche 91.0 -tranche 90.0 \ -R {input.fasta_ref} \ -V {input.cohort} \ --resource:mills,known=false,training=true,truth=true,prior=12.0 {input.indels_Mills} \ --resource:dbsnp,known=true,training=false,truth=false,prior=2.0 {input.hg38_snps} \ -an QD -an MQRankSum -an ReadPosRankSum -an FS -an SOR -an DP \ -mode INDEL -O {output.recal} --tranches-file {output.tranches} \ --rscript-file {output.script} " |
319 320 321 322 323 324 325 326 327 328 | shell: "{gatk_app} --java-options \"-Djava.io.tmpdir={params.tempdir} \ -Xms2G -Xmx2G -XX:ParallelGCThreads=2\" ApplyVQSR \ -V {input.cohort} \ --recal-file {input.recal} \ -mode SNP \ --tranches-file {input.tranches} \ --truth-sensitivity-filter-level 99.8 \ --create-output-variant-index true \ -O {output.vcf}" |
339 340 341 342 343 344 345 346 347 348 | shell: "{gatk_app} --java-options \"-Djava.io.tmpdir={params.tempdir} \ -Xms2G -Xmx2G -XX:ParallelGCThreads=2\" ApplyVQSR \ -V {input.vcf} \ -mode INDEL \ --recal-file {input.recal} \ --tranches-file {input.tranches} \ --truth-sensitivity-filter-level 99.9 \ --create-output-variant-index true \ -O {output.vcf} " |
358 359 360 361 | shell: "{gatk_app} --java-options \"-Djava.io.tmpdir={params.tempdir} -Xms2G -Xmx2G -XX:ParallelGCThreads=2\" CalculateGenotypePosteriors " " -V {input.vcf} " " --supporting-callsets {input.wgs_1000GP} -O {output.vcf} " |
370 371 | shell: "{bcftools_app} +fill-tags {input.vcf} -Ou | {bcftools_app} view -t {params.chr_str} -Ou | {bcftools_app} annotate --set-id '%CHROM\_%POS\_%REF\_%ALT' -Oz -o {output.vcf} " |
378 379 | shell: "{bcftools_app} filter -S . -e 'FMT/DP<3 | FMT/GQ<20' -Oz -o {output.vcf} {input.vcf} " |
386 387 | shell: "{bcftools_app} filter -i 'FILTER=\"PASS\"' -Ou {input.vcf}| {bcftools_app} filter -i 'INFO/HWE > 1e-6' -Ou | {bcftools_app} filter -i 'F_MISSING < 0.15' -Oz -o {output.vcf}" |
397 398 | shell: "java -Xmx24g -jar {beagle_app} gt={input.vcf} nthreads={threads} out={params.prefix} impute=false" |
405 406 | shell: "tabix -p vcf {input} " |
414 415 | shell: "{bcftools_app} +fill-tags -Oz -o {output.vcf} {input.vcf}" |
424 425 426 | shell: "for chr in {{1..22},X}; do echo chr$\{chr\} $\{chr\} >> {params.chrs}; done" "{bcftools_app} annotate --rename-chrs {params.chrs} {input} -Oz -o {output} --set-id '%CHROM\:%POS\:%REF\:%ALT' " |
435 436 | shell: "{bcftools_app} filter -i 'INFO/MAF > {params.maf}' -Oz -o {output.vcf} {input.vcf} " |
444 445 | shell: "{bcftools_app} +dosage {input.vcf} -- -t GT > {output.table}" |
452 453 | shell: "{bcftools_app} query -f '%ID\n' {input.vcf} > {output.table}" |
464 465 | shell: "Rscript {params.script} -g {input.genotype} -v {input.variants} -r {params.results}" |
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Created: 1yr ago
Updated: 1yr ago
Maitainers:
public
URL:
https://github.com/cristian2420/WGS_genotyping
Name:
wgs_genotyping
Version:
1
Downloaded:
0
Copyright:
Public Domain
License:
MIT License
Keywords:
- Future updates
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