@@ -20,12 +20,6 @@ cp scripts/nextflow.config .
2020cp -r scripts/modules .
2121```
2222
23- You also need to unzip the reference data files:
24-
25- ```
26- tar -zxvf data/ref.tar.gz -C data/
27- ```
28-
2923### 0.1 Run the workflow to verify that it produces the expected outputs
3024
3125``` bash
@@ -447,7 +441,7 @@ test("reads_son [bam]") {
447441 script " ../../../samtools/index/main.nf"
448442 process {
449443 " " "
450- input[0] = [ [id: 'NA12882 ' ], file(" ${projectDir} /data/bam/reads_son.bam" ) ]
444+ input[0] = [ [id: 'reads_son ' ], file(" ${projectDir} /data/bam/reads_son.bam" ) ]
451445 " " "
452446 }
453447 }
@@ -469,7 +463,7 @@ Then we can refer to the output of that process in the `when` block where we spe
469463 input[1] = file(" ${projectDir} /data/ref/ref.fasta" )
470464 input[2] = file(" ${projectDir} /data/ref/ref.fasta.fai" )
471465 input[3] = file(" ${projectDir} /data/ref/ref.dict" )
472- input[4] = file(" ${projectDir} /data/intervals.list " )
466+ input[4] = file(" ${projectDir} /data/ref/ intervals.bed " )
473467 " " "
474468 }
475469 }
@@ -532,7 +526,7 @@ Test Process GATK_HAPLOTYPECALLER
532526 "0": [ "0": [
533527 [ [
534528 { {
535- "id": "NA12882 " "id": "NA12882 "
529+ "id": "reads_son " "id": "reads_son "
536530 }, },
537531 "reads_son.bam.g.vcf:md5,f3583cbbe439469bfc166612e1617694", | "reads_son.bam.g.vcf:md5,428f855d616b34d44a4f0a3bcc1a0b14",
538532 "reads_son.bam.g.vcf.idx:md5,16a78feaf6602adb2a131494e0274f9e" | "reads_son.bam.g.vcf.idx:md5,5a8d299625ef3cd3266229507a789dbb"
@@ -578,8 +572,8 @@ _After:_
578572` ` ` console title=" modules/local/gatk/haplotypecaller/tests/main.nf.test" linenums=" 35"
579573then {
580574 assert process.success
581- assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12882 ' )
582- assert path(process.out[0][0][1]).readLines ().contains(' 20 10040001 . T <NON_REF> . . END=10040048 GT:DP:GQ:MIN_DP:PL 0/0:40:99:37 :0,99,1150 ' )
575+ assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT reads_son ' )
576+ assert path(process.out[0][0][1]).readLines ().contains(' 20_10037292_10066351 3277 . G <NON_REF> . . END=3282 GT:DP:GQ:MIN_DP:PL 0/0:25:72:24 :0,72,719 ' )
583577}
584578` ` `
585579
@@ -625,7 +619,7 @@ test("reads_mother [bam]") {
625619 script " ../../../samtools/index/main.nf"
626620 process {
627621 " " "
628- input[0] = [ [id: 'NA12882 ' ], file(" ${projectDir} /data/bam/reads_mother.bam" ) ]
622+ input[0] = [ [id: 'reads_mother ' ], file(" ${projectDir} /data/bam/reads_mother.bam" ) ]
629623 " " "
630624 }
631625 }
@@ -641,15 +635,15 @@ test("reads_mother [bam]") {
641635 input[1] = file(" ${projectDir} /data/ref/ref.fasta" )
642636 input[2] = file(" ${projectDir} /data/ref/ref.fasta.fai" )
643637 input[3] = file(" ${projectDir} /data/ref/ref.dict" )
644- input[4] = file(" ${projectDir} /data/intervals.list " )
638+ input[4] = file(" ${projectDir} /data/ref/ intervals.bed " )
645639 " " "
646640 }
647641 }
648642
649643 then {
650644 assert process.success
651- assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 ' )
652- assert path(process.out[0][0][1]).readLines ().contains(' 20 10040001 . T <NON_REF> . . END=10040013 GT:DP:GQ:MIN_DP:PL 0/0:28:81:27 :0,81,829 ' )
645+ assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT reads_mother ' )
646+ assert path(process.out[0][0][1]).readLines ().contains(' 20_10037292_10066351 3277 . G <NON_REF> . . END=3278 GT:DP:GQ:MIN_DP:PL 0/0:38:99:37 :0,102,1530 ' )
653647 }
654648}
655649` ` `
@@ -664,7 +658,7 @@ test("reads_father [bam]") {
664658 script " ../../../samtools/index/main.nf"
665659 process {
666660 " " "
667- input[0] = [ [id: 'NA12882 ' ], file(" ${projectDir} /data/bam/reads_father.bam" ) ]
661+ input[0] = [ [id: 'reads_father ' ], file(" ${projectDir} /data/bam/reads_father.bam" ) ]
668662 " " "
669663 }
670664 }
@@ -680,15 +674,15 @@ test("reads_father [bam]") {
680674 input[1] = file(" ${projectDir} /data/ref/ref.fasta" )
681675 input[2] = file(" ${projectDir} /data/ref/ref.fasta.fai" )
682676 input[3] = file(" ${projectDir} /data/ref/ref.dict" )
683- input[4] = file(" ${projectDir} /data/intervals.list " )
677+ input[4] = file(" ${projectDir} /data/ref/ intervals.bed " )
684678 " " "
685679 }
686680 }
687681
688682 then {
689683 assert process.success
690- assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12877 ' )
691- assert path(process.out[0][0][1]).readLines ().contains(' 20 10040001 . T <NON_REF> . . END=10040011 GT:DP:GQ:MIN_DP:PL 0/0:30:81:29 :0,81,1025 ' )
684+ assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT reads_father ' )
685+ assert path(process.out[0][0][1]).readLines ().contains(' 20_10037292_10066351 3277 . G <NON_REF> . . END=3281 GT:DP:GQ:MIN_DP:PL 0/0:44:99:42 :0,120,1800 ' )
692686 }
693687}
694688` ` `
@@ -830,7 +824,7 @@ test("family_trio [vcf] [idx]") {
830824 input[2] = file(" ${projectDir} /data/ref/ref.fasta" )
831825 input[3] = file(" ${projectDir} /data/ref/ref.fasta.fai" )
832826 input[4] = file(" ${projectDir} /data/ref/ref.dict" )
833- input[5] = file(" ${projectDir} /data/intervals.list " )
827+ input[5] = file(" ${projectDir} /data/ref/ intervals.bed " )
834828 " " "
835829 }
836830 }
@@ -843,8 +837,8 @@ The output of the joint genotyping step is another VCF file, so we're going to u
843837```groovy title="modules/local/gatk/jointgenotyping/tests/main.nf.test" linenums="25"
844838then {
845839 assert process.success
846- assert path(process.out[0][0]).readLines().contains(' # CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12877 NA12878 NA12882 ')
847- assert path(process.out[0][0]).readLines().contains('20 10040772 . C CT 1568 .89 . AC=5;AF=0.833;AN=6;BaseQRankSum=0.399 ;DP=82 ;ExcessHet=0.0000;FS=4.291 ;MLEAC=5;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=21.79 ;ReadPosRankSum=-9.150e-01 ;SOR=0.510 GT:AD:DP:GQ:PL 0/1:14 ,16:30 :99:370 ,0,348 1/1:0,17:17:51:487,51 ,0 1/1:0,25:25:75:726,75 ,0')
840+ assert path(process.out[0][0]).readLines().contains(' # CHROM POS ID REF ALT QUAL FILTER INFO FORMAT reads_father reads_mother reads_son ')
841+ assert path(process.out[0][0]).readLines().contains('20_10037292_10066351 3480 . C CT 1625 .89 . AC=5;AF=0.833;AN=6;BaseQRankSum=0.220 ;DP=85 ;ExcessHet=0.0000;FS=2.476 ;MLEAC=5;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=21.68 ;ReadPosRankSum=-1.147e+00 ;SOR=0.487 GT:AD:DP:GQ:PL 0/1:15 ,16:31 :99:367 ,0,375 1/1:0,18:18:54:517,54 ,0 1/1:0,26:26:78:756,78 ,0')
848842}
849843` ` `
850844
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