@@ -20,12 +20,6 @@ cp scripts/nextflow.config .
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cp -r scripts/modules .
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```
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- You also need to unzip the reference data files:
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-
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- ```
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- tar -zxvf data/ref.tar.gz -C data/
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- ```
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-
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### 0.1 Run the workflow to verify that it produces the expected outputs
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``` bash
@@ -447,7 +441,7 @@ test("reads_son [bam]") {
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script " ../../../samtools/index/main.nf"
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process {
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" " "
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- input[0] = [ [id: 'NA12882 ' ], file(" ${projectDir} /data/bam/reads_son.bam" ) ]
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+ input[0] = [ [id: 'reads_son ' ], file(" ${projectDir} /data/bam/reads_son.bam" ) ]
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" " "
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}
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}
@@ -469,7 +463,7 @@ Then we can refer to the output of that process in the `when` block where we spe
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input[1] = file(" ${projectDir} /data/ref/ref.fasta" )
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input[2] = file(" ${projectDir} /data/ref/ref.fasta.fai" )
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input[3] = file(" ${projectDir} /data/ref/ref.dict" )
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- input[4] = file(" ${projectDir} /data/intervals.list " )
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+ input[4] = file(" ${projectDir} /data/ref/ intervals.bed " )
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" " "
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}
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}
@@ -532,7 +526,7 @@ Test Process GATK_HAPLOTYPECALLER
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"0": [ "0": [
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[ [
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{ {
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- "id": "NA12882 " "id": "NA12882 "
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+ "id": "reads_son " "id": "reads_son "
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}, },
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"reads_son.bam.g.vcf:md5,f3583cbbe439469bfc166612e1617694", | "reads_son.bam.g.vcf:md5,428f855d616b34d44a4f0a3bcc1a0b14",
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"reads_son.bam.g.vcf.idx:md5,16a78feaf6602adb2a131494e0274f9e" | "reads_son.bam.g.vcf.idx:md5,5a8d299625ef3cd3266229507a789dbb"
@@ -578,8 +572,8 @@ _After:_
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` ` ` console title=" modules/local/gatk/haplotypecaller/tests/main.nf.test" linenums=" 35"
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then {
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assert process.success
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- assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12882 ' )
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- 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 ' )
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+ assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT reads_son ' )
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+ 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 ' )
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}
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` ` `
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@@ -625,7 +619,7 @@ test("reads_mother [bam]") {
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script " ../../../samtools/index/main.nf"
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process {
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" " "
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- input[0] = [ [id: 'NA12882 ' ], file(" ${projectDir} /data/bam/reads_mother.bam" ) ]
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+ input[0] = [ [id: 'reads_mother ' ], file(" ${projectDir} /data/bam/reads_mother.bam" ) ]
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" " "
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}
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}
@@ -641,15 +635,15 @@ test("reads_mother [bam]") {
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input[1] = file(" ${projectDir} /data/ref/ref.fasta" )
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input[2] = file(" ${projectDir} /data/ref/ref.fasta.fai" )
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input[3] = file(" ${projectDir} /data/ref/ref.dict" )
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- input[4] = file(" ${projectDir} /data/intervals.list " )
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+ input[4] = file(" ${projectDir} /data/ref/ intervals.bed " )
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" " "
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}
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}
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then {
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assert process.success
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- assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 ' )
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- 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 ' )
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+ assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT reads_mother ' )
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+ 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 ' )
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}
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}
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` ` `
@@ -664,7 +658,7 @@ test("reads_father [bam]") {
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script " ../../../samtools/index/main.nf"
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process {
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" " "
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- input[0] = [ [id: 'NA12882 ' ], file(" ${projectDir} /data/bam/reads_father.bam" ) ]
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+ input[0] = [ [id: 'reads_father ' ], file(" ${projectDir} /data/bam/reads_father.bam" ) ]
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" " "
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}
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}
@@ -680,15 +674,15 @@ test("reads_father [bam]") {
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input[1] = file(" ${projectDir} /data/ref/ref.fasta" )
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input[2] = file(" ${projectDir} /data/ref/ref.fasta.fai" )
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input[3] = file(" ${projectDir} /data/ref/ref.dict" )
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- input[4] = file(" ${projectDir} /data/intervals.list " )
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+ input[4] = file(" ${projectDir} /data/ref/ intervals.bed " )
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" " "
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}
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}
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then {
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assert process.success
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- assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12877 ' )
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- 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 ' )
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+ assert path(process.out[0][0][1]).readLines ().contains(' #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT reads_father ' )
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+ 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 ' )
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}
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}
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` ` `
@@ -830,7 +824,7 @@ test("family_trio [vcf] [idx]") {
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input[2] = file(" ${projectDir} /data/ref/ref.fasta" )
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input[3] = file(" ${projectDir} /data/ref/ref.fasta.fai" )
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input[4] = file(" ${projectDir} /data/ref/ref.dict" )
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- input[5] = file(" ${projectDir} /data/intervals.list " )
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+ input[5] = file(" ${projectDir} /data/ref/ intervals.bed " )
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" " "
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}
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}
@@ -843,8 +837,8 @@ The output of the joint genotyping step is another VCF file, so we're going to u
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```groovy title="modules/local/gatk/jointgenotyping/tests/main.nf.test" linenums="25"
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then {
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assert process.success
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- assert path(process.out[0][0]).readLines().contains(' # CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12877 NA12878 NA12882 ')
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- 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')
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+ assert path(process.out[0][0]).readLines().contains(' # CHROM POS ID REF ALT QUAL FILTER INFO FORMAT reads_father reads_mother reads_son ')
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+ 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')
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}
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` ` `
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