doc/user/topics/tutorial-gatk-variantfiltration.html.textile.liquid

   1 ---
   2 layout: default
   3 navsection: userguide
   4 title: "Using GATK with Arvados"
   5 ...
   6
   7 This tutorial demonstrates how to use the Genome Analysis Toolkit (GATK) with Arvados. In this example we will install GATK and then create a VariantFiltration job to assign pass/fail scores to variants in a VCF file.
   8
   9 {% include 'tutorial_expectations' %}
  10
  11 h2. Installing GATK
  12
  13 Download the GATK binary tarball[1] -- e.g., @GenomeAnalysisTK-2.6-4.tar.bz2@ -- and "copy it to your Arvados VM":{{site.baseurl}}/user/tutorials/tutorial-keep.html.
  14
  15 <notextile>
  16 <pre><code>~$ <span class="userinput">arv keep put GenomeAnalysisTK-2.6-4.tar.bz2</span>
  17 c905c8d8443a9c44274d98b7c6cfaa32+94
  18 </code></pre>
  19 </notextile>
  20
  21 Next, you need the GATK Resource Bundle[2].  This may already be available in Arvados.  If not, you will need to download the files listed below and put them into Keep.
  22
  23 <notextile>
  24 <pre><code>~$ <span class="userinput">arv keep ls -s d237a90bae3870b3b033aea1e99de4a9+10820</span>
  25   50342 1000G_omni2.5.b37.vcf.gz
  26       1 1000G_omni2.5.b37.vcf.gz.md5
  27     464 1000G_omni2.5.b37.vcf.idx.gz
  28       1 1000G_omni2.5.b37.vcf.idx.gz.md5
  29   43981 1000G_phase1.indels.b37.vcf.gz
  30       1 1000G_phase1.indels.b37.vcf.gz.md5
  31     326 1000G_phase1.indels.b37.vcf.idx.gz
  32       1 1000G_phase1.indels.b37.vcf.idx.gz.md5
  33  537210 CEUTrio.HiSeq.WGS.b37.bestPractices.phased.b37.vcf.gz
  34       1 CEUTrio.HiSeq.WGS.b37.bestPractices.phased.b37.vcf.gz.md5
  35    3473 CEUTrio.HiSeq.WGS.b37.bestPractices.phased.b37.vcf.idx.gz
  36       1 CEUTrio.HiSeq.WGS.b37.bestPractices.phased.b37.vcf.idx.gz.md5
  37   19403 Mills_and_1000G_gold_standard.indels.b37.vcf.gz
  38       1 Mills_and_1000G_gold_standard.indels.b37.vcf.gz.md5
  39     536 Mills_and_1000G_gold_standard.indels.b37.vcf.idx.gz
  40       1 Mills_and_1000G_gold_standard.indels.b37.vcf.idx.gz.md5
  41   29291 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.sites.vcf.gz
  42       1 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.sites.vcf.gz.md5
  43     565 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.sites.vcf.idx.gz
  44       1 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.sites.vcf.idx.gz.md5
  45   37930 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.vcf.gz
  46       1 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.vcf.gz.md5
  47     592 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.vcf.idx.gz
  48       1 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.vcf.idx.gz.md5
  49 5898484 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.bam
  50     112 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.bam.bai.gz
  51       1 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.bam.bai.gz.md5
  52       1 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.bam.md5
  53    3837 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.vcf.gz
  54       1 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.vcf.gz.md5
  55      65 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.vcf.idx.gz
  56       1 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.vcf.idx.gz.md5
  57  275757 dbsnp_137.b37.excluding_sites_after_129.vcf.gz
  58       1 dbsnp_137.b37.excluding_sites_after_129.vcf.gz.md5
  59    3735 dbsnp_137.b37.excluding_sites_after_129.vcf.idx.gz
  60       1 dbsnp_137.b37.excluding_sites_after_129.vcf.idx.gz.md5
  61  998153 dbsnp_137.b37.vcf.gz
  62       1 dbsnp_137.b37.vcf.gz.md5
  63    3890 dbsnp_137.b37.vcf.idx.gz
  64       1 dbsnp_137.b37.vcf.idx.gz.md5
  65   58418 hapmap_3.3.b37.vcf.gz
  66       1 hapmap_3.3.b37.vcf.gz.md5
  67     999 hapmap_3.3.b37.vcf.idx.gz
  68       1 hapmap_3.3.b37.vcf.idx.gz.md5
  69       3 human_g1k_v37.dict.gz
  70       1 human_g1k_v37.dict.gz.md5
  71       2 human_g1k_v37.fasta.fai.gz
  72       1 human_g1k_v37.fasta.fai.gz.md5
  73  849537 human_g1k_v37.fasta.gz
  74       1 human_g1k_v37.fasta.gz.md5
  75       1 human_g1k_v37.stats.gz
  76       1 human_g1k_v37.stats.gz.md5
  77       3 human_g1k_v37_decoy.dict.gz
  78       1 human_g1k_v37_decoy.dict.gz.md5
  79       2 human_g1k_v37_decoy.fasta.fai.gz
  80       1 human_g1k_v37_decoy.fasta.fai.gz.md5
  81  858592 human_g1k_v37_decoy.fasta.gz
  82       1 human_g1k_v37_decoy.fasta.gz.md5
  83       1 human_g1k_v37_decoy.stats.gz
  84       1 human_g1k_v37_decoy.stats.gz.md5
  85 </code></pre>
  86 </notextile>
  87
  88 h2. Submit a GATK job
  89
  90 The Arvados distribution includes an example crunch script ("crunch_scripts/GATK2-VariantFiltration":https://arvados.org/projects/arvados/repository/revisions/master/entry/crunch_scripts/GATK2-VariantFiltration) that runs the GATK VariantFiltration tool with some default settings.
  91
  92 <notextile>
  93 <pre><code>~$ <span class="userinput">src_version=76588bfc57f33ea1b36b82ca7187f465b73b4ca4</span>
  94 ~$ <span class="userinput">vcf_input=5ee633fe2569d2a42dd81b07490d5d13+82</span>
  95 ~$ <span class="userinput">gatk_binary=c905c8d8443a9c44274d98b7c6cfaa32+94</span>
  96 ~$ <span class="userinput">gatk_bundle=d237a90bae3870b3b033aea1e99de4a9+10820</span>
  97 ~$ <span class="userinput">cat &gt;the_job &lt;&lt;EOF
  98 {
  99  "script":"GATK2-VariantFiltration",
 100  "repository":"arvados",
 101  "script_version":"$src_version",
 102  "script_parameters":
 103  {
 104   "input":"$vcf_input",
 105   "gatk_binary_tarball":"$gatk_binary",
 106   "gatk_bundle":"$gatk_bundle"
 107  }
 108 }
 109 EOF</span>
 110 </code></pre>
 111 </notextile>
 112
 113 * @"input"@ is collection containing the source VCF data. Here we are using an exome report from PGP participant hu34D5B9.
 114 * @"gatk_binary_tarball"@ is a Keep collection containing the GATK 2 binary distribution[1] tar file.
 115 * @"gatk_bundle"@ is a Keep collection containing the GATK resource bundle[2].
 116
 117 Now start a job:
 118
 119 <notextile>
 120 <pre><code>~$ <span class="userinput">arv job create --job "$(cat the_job)"</span>
 121 {
 122  "href":"https://qr1hi.arvadosapi.com/arvados/v1/jobs/qr1hi-8i9sb-n9k7qyp7bs5b9d4",
 123  "kind":"arvados#job",
 124  "etag":"9j99n1feoxw3az448f8ises12",
 125  "uuid":"qr1hi-8i9sb-n9k7qyp7bs5b9d4",
 126  "owner_uuid":"qr1hi-tpzed-9zdpkpni2yddge6",
 127  "created_at":"2013-12-17T19:02:15Z",
 128  "modified_by_client_uuid":"qr1hi-ozdt8-obw7foaks3qjyej",
 129  "modified_by_user_uuid":"qr1hi-tpzed-9zdpkpni2yddge6",
 130  "modified_at":"2013-12-17T19:02:15Z",
 131  "updated_at":"2013-12-17T19:02:15Z",
 132  "submit_id":null,
 133  "priority":null,
 134  "script":"GATK2-VariantFiltration",
 135  "script_parameters":{
 136   "input":"5ee633fe2569d2a42dd81b07490d5d13+82",
 137   "gatk_binary_tarball":"c905c8d8443a9c44274d98b7c6cfaa32+94",
 138   "gatk_bundle":"d237a90bae3870b3b033aea1e99de4a9+10820"
 139  },
 140  "script_version":"76588bfc57f33ea1b36b82ca7187f465b73b4ca4",
 141  "cancelled_at":null,
 142  "cancelled_by_client_uuid":null,
 143  "cancelled_by_user_uuid":null,
 144  "started_at":null,
 145  "finished_at":null,
 146  "output":null,
 147  "success":null,
 148  "running":null,
 149  "is_locked_by_uuid":null,
 150  "log":null,
 151  "runtime_constraints":{},
 152  "tasks_summary":{}
 153 }
 154 </code></pre>
 155 </notextile>
 156
 157 Once the job completes, the output can be found in hu34D5B9-exome-filtered.vcf:
 158
 159 <notextile><pre><code>~$ <span class="userinput">arv keep ls bedd6ff56b3ae9f90d873b1fcb72f9a3+91</span>
 160 hu34D5B9-exome-filtered.vcf
 161 </code></pre>
 162 </notextile>
 163
 164 h2. Notes
 165
 166 fn1. "Download the GATK tools":http://www.broadinstitute.org/gatk/download
 167
 168 fn2. "Information about the GATK resource bundle":http://gatkforums.broadinstitute.org/discussion/1213/whats-in-the-resource-bundle-and-how-can-i-get-it and "direct download link":ftp://gsapubftp-anonymous@ftp.broadinstitute.org/bundle/2.5/b37/ (if prompted, submit an empty password)