#!/usr/bin/env nextflow nextflow.enable.dsl=2 gene_name = params.gene up_gene_symbol = gene_name.toUpperCase() d_base = params.db_init res_base = params.res_init caller_base = params.caller_init output_folder = params.out_dir params.build='hg38' if (params.build=='b37') { db = "${d_base}/${gene_name}/b37" res_dir = "${res_base}/${gene_name}/res_b37" caller_dir = "${caller_base}/${gene_name}/b37/bin" debug37 = "--minimum_extract_score_over_homref=0" debug38 = "" if (params.gene=='cyp2d6') { chrom = "22" region_a1 = "22:42522000-42542000" region_a2 = "042522000-042542000" region_b1 = "22:42522300-42528400" region_b2 = "042522300-042528400" } else if (params.gene=='cyp2a6') { chrom = "19" region_a1 = "19:41339500-41389490" region_a2 = "041339500-041389490" region_b1 = "19:41348500-41358200" region_b2 = "041348500-041358200" } else if (params.gene=='cyp2b6') { chrom = "19" region_a1 = "19:41487100-41534300" region_a2 = "041487100-041534300" region_b1 = "19:41494750-41522800" region_b2 = "041494750-041522800" } else if (params.gene=='cyp2c19') { chrom = "10" region_a1 = "10:96518000-96613000" region_a2 = "096518000-096613000" region_b1 = "10:96519000-96612750" region_b2 = "096519000-096612750" } else if (params.gene=='cyp2c9') { chrom = "10" region_a1 = "10:96695000-96749500" region_a2 = "096695000-096749500" region_b1 = "10:96695750-96748950" region_b2 = "096695750-096748950" } else if (params.gene=='cyp2c8') { chrom = "10" region_a1 = "10:96786500-96839250" region_a2 = "096786500-096839250" region_b1 = "10:96796750-96829600" region_b2 = "096796750-096829600" } else if (params.gene=='cyp2e1') { chrom = "10" region_a1 = "10:135330300-135352600" region_a2 = "135330300-135352600" region_b1 = "10:135339500-135351300" region_b2 = "135339500-135351300" } else if (params.gene=='cyp3a4') { chrom = "7" region_a1 = "7:99344600-99391800" region_a2 = "099344600-099391800" region_b1 = "7:99355450-99382600" region_b2 = "099355450-099382600" } else if (params.gene=='cyp3a5') { chrom = "7" region_a1 = "7:99235800-99287600" region_a2 = "099235800-099287600" region_b1 = "7:99245850-99278250" region_b2 = "099245850-099278250" } else if (params.gene=='cyp1a1') { chrom = "15" region_a1 = "15:75001900-75027900" region_a2 = "075001900-075027900" region_b1 = "15:75011600-75015320" region_b2 = "075011600-075015320" } else if (params.gene=='cyp1a2') { chrom = "15" region_a1 = "15:75031200-75058900" region_a2 = "075031200-075058900" region_b1 = "15:75038200-75047650" region_b2 = "075038200-075047650" } else if (params.gene=='cyp4f2') { chrom = "19" region_a1 = "19:15978850-16018850" region_a2 = "015978850-016018850" region_b1 = "19:15988850-16008850" region_b2 = "015988850-016008850" } else if (params.gene=='cypor') { chrom = "7" region_a1 = "7:75534473-75626173" region_a2 = "075534473-075626173" region_b1 = "7:75549473-75621173" region_b2 = "075549473-075621173" } } else if (params.build=='hg19') { db = "${d_base}/${gene_name}/b37" res_dir = "${res_base}/${gene_name}/res_hg19" caller_dir = "${caller_base}/${gene_name}/b37/bin" debug37 = "--minimum_extract_score_over_homref=0" debug38 = "" if (params.gene=='cyp2d6') { chrom = "chr22" region_a1 = "chr22:42522000-42542000" region_a2 = "042522000-042542000" region_b1 = "chr22:42522300-42528400" region_b2 = "042522300-042528400" } else if (params.gene=='cyp2a6') { chrom = "chr19" region_a1 = "chr19:41339500-41389490" region_a2 = "041339500-041389490" region_b1 = "chr19:41348500-41358200" region_b2 = "041348500-041358200" } else if (params.gene=='cyp2b6') { chrom = "chr19" region_a1 = "chr19:41487100-41534300" region_a2 = "041487100-041534300" region_b1 = "chr19:41494750-41522800" region_b2 = "041494750-041522800" } else if (params.gene=='cyp2c19') { chrom = "chr10" region_a1 = "chr10:96518000-96613000" region_a2 = "096518000-096613000" region_b1 = "chr10:96519000-96612750" region_b2 = "096519000-096612750" } else if (params.gene=='cyp2c9') { chrom = "chr10" region_a1 = "chr10:96695000-96749500" region_a2 = "096695000-096749500" region_b1 = "chr10:96695750-96748950" region_b2 = "096695750-096748950" } else if (params.gene=='cyp2c8') { chrom = "chr10" region_a1 = "chr10:96786500-96839250" region_a2 = "096786500-096839250" region_b1 = "chr10:96796750-96829600" region_b2 = "096796750-096829600" } else if (params.gene=='cyp2e1') { chrom = "chr10" region_a1 = "chr10:135330300-135352600" region_a2 = "135330300-135352600" region_b1 = "chr10:135339500-135351300" region_b2 = "135339500-135351300" } else if (params.gene=='cyp3a4') { chrom = "chr7" region_a1 = "chr7:99344600-99391800" region_a2 = "099344600-099391800" region_b1 = "chr7:99355450-99382600" region_b2 = "099355450-099382600" } else if (params.gene=='cyp3a5') { chrom = "chr7" region_a1 = "chr7:99235800-99287600" region_a2 = "099235800-099287600" region_b1 = "chr7:99245850-99278250" region_b2 = "099245850-099278250" } else if (params.gene=='cyp1a1') { chrom = "chr15" region_a1 = "chr15:75001900-75027900" region_a2 = "075001900-075027900" region_b1 = "chr15:75011600-75015320" region_b2 = "075011600-075015320" } else if (params.gene=='cyp1a2') { chrom = "chr15" region_a1 = "chr15:75031200-75058900" region_a2 = "075031200-075058900" region_b1 = "chr15:75038200-75047650" region_b2 = "075038200-075047650" } else if (params.gene=='cyp4f2') { chrom = "chr19" region_a1 = "chr19:15978850-16018850" region_a2 = "015978850-016018850" region_b1 = "chr19:15988850-16008850" region_b2 = "015988850-016008850" } else if (params.gene=='cypor') { chrom = "chr7" region_a1 = "chr7:75534473-75626173" region_a2 = "075534473-075626173" region_b1 = "chr7:75549473-75621173" region_b2 = "075549473-075621173" } } else { db = "${d_base}/${gene_name}/hg38" res_dir = "${res_base}/${gene_name}/res_hg38" caller_dir = "${caller_base}/${gene_name}/hg38/bin" debug37 = "" debug38 = "--minimum_extract_score_over_homref=0" if (params.gene=='cyp2d6') { chrom = "chr22" region_a1 = "chr22:42126000-42137500" region_a2 = "042126000-042137500" region_b1 = "chr22:42126300-42132400" region_b2 = "042126300-042132400" transcript = "ENST00000645361" } else if (params.gene=='cyp2a6') { chrom = "chr19" region_a1 = "chr19:40833541-40887450" region_a2 = "040833541-040887450" region_b1 = "chr19:40842750-40852250" region_b2 = "040842750-040852250" transcript = "ENST00000301141" } else if (params.gene=='cyp2b6') { chrom = "chr19" region_a1 = "chr19:40981280-41028400" region_a2 = "040981280-041028400" region_b1 = "chr19:40988800-41016900" region_b2 = "040988800-041016900" transcript = "ENST00000324071" } else if (params.gene=='cyp2c19') { chrom = "chr10" region_a1 = "chr10:94752750-94865500" region_a2 = "094752750-094865500" region_b1 = "chr10:94759250-94853000" region_b2 = "094759250-094853000" transcript = "ENST00000371321" } else if (params.gene=='cyp2c9') { chrom = "chr10" region_a1 = "chr10:94935000-94990000" region_a2 = "094935000-094990000" region_b1 = "chr10:94936000-94989200" region_b2 = "094936000-094989200" transcript = "ENST00000260682" } else if (params.gene=='cyp2c8') { chrom = "chr10" region_a1 = "chr10:95026750-95079500" region_a2 = "095026750-095079500" region_b1 = "chr10:95037050-95069800" region_b2 = "095037050-095069800" transcript = "ENST00000371270" } else if (params.gene=='cyp2e1') { chrom = "chr10" region_a1 = "chr10:133517350-133549100" region_a2 = "133517350-133549100" region_b1 = "chr10:133522363-133544123" region_b2 = "133522363-133544123" transcript = "ENST00000252945" } else if (params.gene=='cyp3a4') { chrom = "chr7" region_a1 = "chr7:99746950-99794100" region_a2 = "099746950-099794100" region_b1 = "chr7:99757850-99784950" region_b2 = "099757850-099784950" transcript = "ENST00000651514" } else if (params.gene=='cyp3a5') { chrom = "chr7" region_a1 = "chr7:99638200-99690000" region_a2 = "099638200-099690000" region_b1 = "chr7:99648250-99680650" region_b2 = "099648250-099680650" transcript = "ENST00000222982" } else if (params.gene=='cyp1a1') { chrom = "chr15" region_a1 = "chr15:74709550-74735500" region_a2 = "074709550-074735500" region_b1 = "chr15:74719250-74725500" region_b2 = "074719250-074725500" transcript = "ENST00000379727" } else if (params.gene=='cyp1a2') { chrom = "chr15" region_a1 = "chr15:74738850-74766600" region_a2 = "074738850-074766600" region_b1 = "chr15:74745850-74755280" region_b2 = "074745850-074755280" transcript = "ENST00000343932" } else if (params.gene=='cyp4f2') { chrom = "chr19" region_a1 = "chr19:15868100-15908000" region_a2 = "015868100-015908000" region_b1 = "chr19:15878000-15898100" region_b2 = "015878000-015898100" transcript = "ENST00000221700" } else if (params.gene=='cypor') { chrom = "chr7" region_a1 = "chr7:75905155-75996855" region_a2 = "075905155-075996855" region_b1 = "chr7:75910155-75991855" region_b2 = "075910155-075991855" transcript = "ENST00000461988" } else if (params.gene=='nat1') { chrom = "chr8" region_a1 = "chr8:18170000-18226000" region_a2 = "018170000-018226000" region_b1 = "chr8:18221000-18224000" region_b2 = "018221000-018224000" transcript = "ENST00000307719" } else if (params.gene=='nat2') { chrom = "chr8" region_a1 = "chr8:18386000-18402000" region_a2 = "018386000-018402000" region_b1 = "chr8:18386000-18402000" region_b2 = "018386000-018402000" transcript = "ENST00000286479" } else if (params.gene=='gstm1') { chrom = "chr1" region_a1 = "chr1:109687000-109695000" region_a2 = "109687000-109695000" region_b1 = "chr1:109687000-109695000" region_b2 = "109687000-109695000" transcript = "ENST00000309851" } else if (params.gene=='gstt1') { chrom = "chr22_KI270879v1_alt" region_a1 = "chr22_KI270879v1_alt:269000-280000" region_a2 = "000269000-000280000" region_b1 = "chr22_KI270879v1_alt:269000-280000" region_b2 = "000269000-000280000" transcript = "ENST00000612885" } else if (params.gene=='slco1b1') { chrom = "chr12" region_a1 = "chr12:21120000-21250000" region_a2 = "021120000-021250000" region_b1 = "chr12:21120000-21250000" region_b2 = "021120000-021250000" transcript = "ENST00000256958" } else if (params.gene=='nudt15') { chrom = "chr13" region_a1 = "chr13:48037500-48055000" region_a2 = "048037500-048055000" region_b1 = "chr13:48037500-48055000" region_b2 = "048037500-048055000" transcript = "ENST00000258662" } else if (params.gene=='tpmt') { chrom = "chr6" region_a1 = "chr6:18128000-18155500" region_a2 = "018128000-018155500" region_b1 = "chr6:18128500-18155000" region_b2 = "018128500-018155000" transcript = "ENST00000309983" } else if (params.gene=='ugt1a1') { chrom = "chr2" region_a1 = "chr2:233758500-233772600" region_a2 = "233758500-233772600" region_b1 = "chr2:233759000-233772000" region_b2 = "233759000-233772000" transcript = "ENST00000305208" } else if (params.gene=='dpyd') { chrom = "chr1" region_a1 = "chr1:97072500-97926000" region_a2 = "097072500-097926000" region_b1 = "chr1:97072500-97926000" region_b2 = "097072500-097926000" transcript = "ENST00000370192" } else if (params.gene=='vkorc1') { chrom = "chr16" region_a1 = "chr16:31086000-31099000" region_a2 = "031086000-031099000" region_b1 = "chr16:31086000-31099000" region_b2 = "031086000-031099000" transcript = "ENST00000394975" } else if (params.gene=='g6pd') { chrom = "chrX" region_a1 = "chrX:154526000-154552000" region_a2 = "154526000-154552000" region_b1 = "chrX:154526000-154552000" region_b2 = "154526000-154552000" transcript = "ENST00000393562" } else if (params.gene=='sult1a1') { chrom = "chr16" region_a1 = "chr16:28600000-28628000" region_a2 = "028600000-028628000" region_b1 = "chr16:28600000-28628000" region_b2 = "028600000-028628000" transcript = "ENST00000314752" } else if (params.gene=='comt') { chrom = "chr22" region_a1 = "chr22:19936772-19974975" region_a2 = "019936772-019974975" region_b1 = "chr22:19936772-19974975" region_b2 = "019936772-019974975" transcript = "ENST00000361682" } else if (params.gene=='gstp1') { chrom = "chr11" region_a1 = "chr11:67578812-67591653" region_a2 = "067578812-067591653" region_b1 = "chr11:67578812-67591653" region_b2 = "067578812-067591653" transcript = "ENST00000398606" } else if (params.gene=='abcb1') { chrom = "chr7" region_a1 = "chr7:87498017-87718295" region_a2 = "087498017-087718295" region_b1 = "chr7:87498017-87718295" region_b2 = "087498017-087718295" transcript = "ENST00000622132" } else if (params.gene=='abcg2') { chrom = "chr4" region_a1 = "chr4:88085264-88236626" region_a2 = "088085264-088236626" region_b1 = "chr4:88085264-88236626" region_b2 = "088085264-088236626" transcript = "ENST00000237612" } else if (params.gene=='slc22a1') { chrom = "chr6" region_a1 = "chr6:160116815-160163718" region_a2 = "160116815-160163718" region_b1 = "chr6:160116815-160163718" region_b2 = "160116815-160163718" transcript = "ENST00000366963" } else if (params.gene=='slc22a2') { chrom = "chr6" region_a1 = "chr6:160211755-160263821" region_a2 = "160211755-160263821" region_b1 = "chr6:160211755-160263821" region_b2 = "160211755-160263821" transcript = "ENST00000366953" } else if (params.gene=='slc22a6') { chrom = "chr11" region_a1 = "chr11:62971597-62989967" region_a2 = "062971597-062989967" region_b1 = "chr11:62971597-62989967" region_b2 = "062971597-062989967" transcript = "ENST00000360421" } else if (params.gene=='slc6a4') { chrom = "chr17" region_a1 = "chr17:30189319-30240697" region_a2 = "030189319-030240697" region_b1 = "chr17:30189319-30240697" region_b2 = "030189319-030240697" transcript = "ENST00000650711" } else if (params.gene=='hla-b') { chrom = "chr6" region_a1 = "chr6:31348875-31362179" region_a2 = "031348875-031362179" region_b1 = "chr6:31348875-31362179" region_b2 = "031348875-031362179" transcript = "ENST00000359635" } else if (params.gene=='slc15a2') { chrom = "chr3" region_a1 = "chr3:121889401-121949188" region_a2 = "121889401-121949188" region_b1 = "chr3:121889401-121949188" region_b2 = "121889401-121949188" transcript = "ENST00000489711" } else if (params.gene=='slco1b3') { chrom = "chr12" region_a1 = "chr12:20805705-20921911" region_a2 = "020805705-020921911" region_b1 = "chr12:20805705-20921911" region_b2 = "020805705-020921911" transcript = "ENST00000381545" } else if (params.gene=='ugt2b7') { chrom = "chr4" region_a1 = "chr4:69046375-69117987" region_a2 = "069046375-069117987" region_b1 = "chr4:69046375-69117987" region_b2 = "069046375-069117987" transcript = "ENST00000305231" } else if (params.gene=='ugt2b15') { chrom = "chr4" region_a1 = "chr4:68641597-68675652" region_a2 = "068641597-068675652" region_b1 = "chr4:68641597-68675652" region_b2 = "068641597-068675652" transcript = "ENST00000338206" } else if (params.gene=='ugt2b17') { chrom = "chr4" region_a1 = "chr4:68532173-68581322" region_a2 = "068532173-068581322" region_b1 = "chr4:68532173-68581322" region_b2 = "068532173-068581322" } } params.format='binary' if (params.format=='compressed') { ext = "cram" ind = "crai" cram_options = "--force_use_input_ref_for_cram_reading" } else { ext = "bam" ind = "bai" cram_options = "" } ref_dir_val = new File("${params.ref_file}").getParent() ref_genome = new File("${params.ref_file}").getName() workflow { ref_ch = Channel.value("${ref_dir_val}") data_ch = Channel.fromFilePairs(params.in_bam, type: 'file') { file -> file.name.replaceAll(/.${ext}|.${ind}$/,'') } call_snvs1(data_ch, ref_ch, res_dir) call_snvs2(data_ch, ref_ch) get_depth(data_ch, ref_ch, res_dir) call_snvs1.out.join(call_snvs2.out).set {var_ch_joined} format_snvs(var_ch_joined) save_vcfs(format_snvs.out) get_core_var(format_snvs.out, res_dir, res_base, ref_ch, caller_base) get_core_var.out.join(get_depth.out).set {fin_files} analyse(fin_files, caller_dir) } process call_snvs1 { // maxForks 10 input: tuple val(name), path(bam) path ref_dir path res_dir output: tuple val(name), path("${name}_var_1") script: ext1 = bam[0].getExtension() if (ext1=='bam') sam_ind='bam.bai' else if (ext1=='cram') sam_ind='cram.crai' else if (ext1=='crai') sam_ind='crai' else sam_ind='bai' """ graphtyper genotype ${ref_dir}/${ref_genome} --sam=${name}.${ext} --sams_index=<(echo ${name}.${sam_ind}) --region=${region_a1} --output=${name}_var_1 --prior_vcf=${res_dir}/common_plus_core_var.vcf.gz -a ${debug38} ${cram_options} bcftools concat ${name}_var_1/${chrom}/*.vcf.gz > ${name}_var_1/${chrom}/${region_a2}.vcf bgzip -f ${name}_var_1/${chrom}/${region_a2}.vcf tabix -f ${name}_var_1/${chrom}/${region_a2}.vcf.gz """ } process call_snvs2 { // maxForks 10 input: tuple val(name), path(bam) path ref_dir output: tuple val(name), path("${name}_var_2") script: ext1 = bam[0].getExtension() if (ext1=='bam') sam_ind='bam.bai' else if (ext1=='cram') sam_ind='cram.crai' else if (ext1=='crai') sam_ind='crai' else sam_ind='bai' """ graphtyper genotype ${ref_dir}/${ref_genome} --sam=${name}.${ext} --sams_index=<(echo ${name}.${sam_ind}) --region=${region_a1} --output=${name}_var_2 -a ${debug38} ${debug37} ${cram_options} bcftools concat ${name}_var_2/${chrom}/*.vcf.gz > ${name}_var_2/${chrom}/${region_a2}.vcf bgzip -f ${name}_var_2/${chrom}/${region_a2}.vcf tabix -f ${name}_var_2/${chrom}/${region_a2}.vcf.gz """ } process get_depth { // maxForks 10 input: tuple val(name), path(bam) path ref_dir path res_dir output: tuple val(name), path("${name}_${gene_name}_ctrl.depth") script: """ samtools bedcov --reference ${ref_dir}/${ref_genome} ${res_dir}/test3.bed ${name}.${ext} > ${name}_${gene_name}_ctrl.depth """ } process format_snvs { // maxForks 10 // publishDir "$output_folder/$gene_name/variants", mode: 'copy', overwrite: 'true', saveAs: { ${name}_var/${name}_all_norm.vcf.gz -> "${name}_${gene_name}.vcf.gz" } input: tuple val(name), path("${name}_var_1"), path("${name}_var_2") output: tuple val(name), path("*") script: """ bcftools isec -p ${name}_var -Oz ${name}_var_1/${chrom}/${region_a2}.vcf.gz ${name}_var_2/${chrom}/${region_a2}.vcf.gz bcftools concat -a -D -r ${region_b1} ${name}_var/0000.vcf.gz ${name}_var/0001.vcf.gz ${name}_var/0002.vcf.gz -Oz -o ${name}_var/${name}_${region_b2}.vcf.gz tabix ${name}_var/${name}_${region_b2}.vcf.gz bcftools norm -m - ${name}_var/${name}_${region_b2}.vcf.gz | bcftools view -e 'GT="1/0"' | bcftools view -e 'GT="0/0"' | bcftools view -e 'FILTER="PASS" & INFO/QD<10 || 0 ${name}_var/${name}_all_norm.vcf.gz tabix ${name}_var/${name}_all_norm.vcf.gz """ } process save_vcfs { publishDir "$output_folder/$gene_name/variants", pattern: '*vcf.gz', mode: 'copy', overwrite: 'true' publishDir "$output_folder/$gene_name/variants", pattern: '*vcf.gz.tbi', mode: 'copy', overwrite: 'true' errorStrategy 'ignore' tag "${name}" input: tuple val(name), path("${name}_vars") output: tuple val(name), path("*") script: """ cp ${name}_vars/${name}_all_norm.vcf.gz ./${name}_${gene_name}.vcf.gz cp ${name}_vars/${name}_all_norm.vcf.gz.tbi ./${name}_${gene_name}.vcf.gz.tbi """ } process get_core_var { // maxForks 10 errorStrategy 'ignore' tag "${name}" input: tuple val(name), path("${name}_vars") path res_dir path res_base path ref_dir path caller_base output: tuple val(name), path("${name}_int") script: if (params.build=='b37') { """ bcftools isec ${name}_vars/${name}_all_norm.vcf.gz ${res_dir}/allele_def_var.vcf.gz -p ${name}_int -Oz bcftools norm -m - ${name}_int/0002.vcf.gz | bcftools view -e 'GT="1/0"' | bcftools view -e 'GT="0/0"' | bgzip -c > ${name}_int/${name}_core.vcf.gz tabix ${name}_int/${name}_core.vcf.gz """ } else if (params.build=='hg19') { """ bcftools isec ${name}_vars/${name}_all_norm.vcf.gz ${res_dir}/allele_def_var.vcf.gz -p ${name}_int -Oz bcftools norm -m - ${name}_int/0002.vcf.gz | bcftools view -e 'GT="1/0"' | bcftools view -e 'GT="0/0"' | bgzip -c > ${name}_int/${name}_core.vcf.gz tabix ${name}_int/${name}_core.vcf.gz """ } else { """ bcftools csq -p m -v 0 -f ${ref_dir}/${ref_genome} -g ${res_base}/annotation/Homo_sapiens.GRCh38.110.gff3.gz ${name}_vars/${name}_all_norm.vcf.gz -o ${name}_vars/${name}_all_norm_annot.vcf bgzip ${name}_vars/${name}_all_norm_annot.vcf tabix ${name}_vars/${name}_all_norm_annot.vcf.gz bcftools isec ${name}_vars/${name}_all_norm_annot.vcf.gz ${res_dir}/allele_def_var.vcf.gz -p ${name}_int -Oz bcftools norm -m - ${name}_int/0002.vcf.gz | bcftools view -e 'GT="1/0"' | bcftools view -e 'GT="0/0"' > ${name}_int/${name}_core_int1.vcf bgzip -d ${name}_int/0000.vcf.gz python3 ${caller_base}/novel/core_var.py ${name}_int/0000.vcf ${up_gene_symbol} ${transcript} >> ${name}_int/${name}_core_int1.vcf bcftools sort ${name}_int/${name}_core_int1.vcf -T ${name}_int | bgzip -c > ${name}_int/${name}_core.vcf.gz tabix ${name}_int/${name}_core.vcf.gz """ } } process analyse { publishDir "$output_folder/$gene_name/summary", mode: 'copy', overwrite: 'true' errorStrategy 'ignore' tag "${name}" input: tuple val(name), path("${name}_int"), path("${name}_${gene_name}_dp") path caller_dir output: tuple val(name), file("${name}_${gene_name}.info") script: """ bcftools query -f'[%POS~%REF>%ALT~%GT\n]' ${name}_int/${name}_core.vcf.gz > ${name}_core_snvs.dip python3 ${caller_dir}/stellarpgx.py ${name}_core_snvs.dip ${name}_${gene_name}_dp > ${name}_${gene_name}.info """ }