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navsection: userguide
title: "Using GATK with Arvados"
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Copyright (C) The Arvados Authors. All rights reserved.

SPDX-License-Identifier: CC-BY-SA-3.0
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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.

{% include 'tutorial_expectations' %}

h2. Installing GATK

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.

<notextile>
<pre><code>~$ <span class="userinput">arv-put GenomeAnalysisTK-2.6-4.tar.bz2</span>
c905c8d8443a9c44274d98b7c6cfaa32+94
</code></pre>
</notextile>

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.

<notextile>
<pre><code>~$ <span class="userinput">arv keep ls -s d237a90bae3870b3b033aea1e99de4a9+10820</span>
  50342 1000G_omni2.5.b37.vcf.gz
      1 1000G_omni2.5.b37.vcf.gz.md5
    464 1000G_omni2.5.b37.vcf.idx.gz
      1 1000G_omni2.5.b37.vcf.idx.gz.md5
  43981 1000G_phase1.indels.b37.vcf.gz
      1 1000G_phase1.indels.b37.vcf.gz.md5
    326 1000G_phase1.indels.b37.vcf.idx.gz
      1 1000G_phase1.indels.b37.vcf.idx.gz.md5
 537210 CEUTrio.HiSeq.WGS.b37.bestPractices.phased.b37.vcf.gz
      1 CEUTrio.HiSeq.WGS.b37.bestPractices.phased.b37.vcf.gz.md5
   3473 CEUTrio.HiSeq.WGS.b37.bestPractices.phased.b37.vcf.idx.gz
      1 CEUTrio.HiSeq.WGS.b37.bestPractices.phased.b37.vcf.idx.gz.md5
  19403 Mills_and_1000G_gold_standard.indels.b37.vcf.gz
      1 Mills_and_1000G_gold_standard.indels.b37.vcf.gz.md5
    536 Mills_and_1000G_gold_standard.indels.b37.vcf.idx.gz
      1 Mills_and_1000G_gold_standard.indels.b37.vcf.idx.gz.md5
  29291 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.sites.vcf.gz
      1 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.sites.vcf.gz.md5
    565 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.sites.vcf.idx.gz
      1 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.sites.vcf.idx.gz.md5
  37930 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.vcf.gz
      1 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.vcf.gz.md5
    592 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.vcf.idx.gz
      1 NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.b37.vcf.idx.gz.md5
5898484 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.bam
    112 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.bam.bai.gz
      1 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.bam.bai.gz.md5
      1 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.bam.md5
   3837 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.vcf.gz
      1 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.vcf.gz.md5
     65 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.vcf.idx.gz
      1 NA12878.HiSeq.WGS.bwa.cleaned.recal.b37.20.vcf.idx.gz.md5
 275757 dbsnp_137.b37.excluding_sites_after_129.vcf.gz
      1 dbsnp_137.b37.excluding_sites_after_129.vcf.gz.md5
   3735 dbsnp_137.b37.excluding_sites_after_129.vcf.idx.gz
      1 dbsnp_137.b37.excluding_sites_after_129.vcf.idx.gz.md5
 998153 dbsnp_137.b37.vcf.gz
      1 dbsnp_137.b37.vcf.gz.md5
   3890 dbsnp_137.b37.vcf.idx.gz
      1 dbsnp_137.b37.vcf.idx.gz.md5
  58418 hapmap_3.3.b37.vcf.gz
      1 hapmap_3.3.b37.vcf.gz.md5
    999 hapmap_3.3.b37.vcf.idx.gz
      1 hapmap_3.3.b37.vcf.idx.gz.md5
      3 human_g1k_v37.dict.gz
      1 human_g1k_v37.dict.gz.md5
      2 human_g1k_v37.fasta.fai.gz
      1 human_g1k_v37.fasta.fai.gz.md5
 849537 human_g1k_v37.fasta.gz
      1 human_g1k_v37.fasta.gz.md5
      1 human_g1k_v37.stats.gz
      1 human_g1k_v37.stats.gz.md5
      3 human_g1k_v37_decoy.dict.gz
      1 human_g1k_v37_decoy.dict.gz.md5
      2 human_g1k_v37_decoy.fasta.fai.gz
      1 human_g1k_v37_decoy.fasta.fai.gz.md5
 858592 human_g1k_v37_decoy.fasta.gz
      1 human_g1k_v37_decoy.fasta.gz.md5
      1 human_g1k_v37_decoy.stats.gz
      1 human_g1k_v37_decoy.stats.gz.md5
</code></pre>
</notextile>

h2. Submit a GATK job

The Arvados distribution includes an example crunch script ("crunch_scripts/GATK2-VariantFiltration":https://dev.arvados.org/projects/arvados/repository/revisions/master/entry/crunch_scripts/GATK2-VariantFiltration) that runs the GATK VariantFiltration tool with some default settings.

<notextile>
<pre><code>~$ <span class="userinput">src_version=76588bfc57f33ea1b36b82ca7187f465b73b4ca4</span>
~$ <span class="userinput">vcf_input=5ee633fe2569d2a42dd81b07490d5d13+82</span>
~$ <span class="userinput">gatk_binary=c905c8d8443a9c44274d98b7c6cfaa32+94</span>
~$ <span class="userinput">gatk_bundle=d237a90bae3870b3b033aea1e99de4a9+10820</span>
~$ <span class="userinput">cat &gt;the_job &lt;&lt;EOF
{
 "script":"GATK2-VariantFiltration",
 "repository":"arvados",
 "script_version":"$src_version",
 "script_parameters":
 {
  "input":"$vcf_input",
  "gatk_binary_tarball":"$gatk_binary",
  "gatk_bundle":"$gatk_bundle"
 }
}
EOF</span>
</code></pre>
</notextile>

* @"input"@ is collection containing the source VCF data. Here we are using an exome report from PGP participant hu34D5B9.
* @"gatk_binary_tarball"@ is a Keep collection containing the GATK 2 binary distribution[1] tar file.
* @"gatk_bundle"@ is a Keep collection containing the GATK resource bundle[2].

Now start a job:

<notextile>
<pre><code>~$ <span class="userinput">arv job create --job "$(cat the_job)"</span>
{
 "href":"https://qr1hi.arvadosapi.com/arvados/v1/jobs/qr1hi-8i9sb-n9k7qyp7bs5b9d4",
 "kind":"arvados#job",
 "etag":"9j99n1feoxw3az448f8ises12",
 "uuid":"qr1hi-8i9sb-n9k7qyp7bs5b9d4",
 "owner_uuid":"qr1hi-tpzed-9zdpkpni2yddge6",
 "created_at":"2013-12-17T19:02:15Z",
 "modified_by_client_uuid":"qr1hi-ozdt8-obw7foaks3qjyej",
 "modified_by_user_uuid":"qr1hi-tpzed-9zdpkpni2yddge6",
 "modified_at":"2013-12-17T19:02:15Z",
 "updated_at":"2013-12-17T19:02:15Z",
 "submit_id":null,
 "priority":null,
 "script":"GATK2-VariantFiltration",
 "script_parameters":{
  "input":"5ee633fe2569d2a42dd81b07490d5d13+82",
  "gatk_binary_tarball":"c905c8d8443a9c44274d98b7c6cfaa32+94",
  "gatk_bundle":"d237a90bae3870b3b033aea1e99de4a9+10820"
 },
 "script_version":"76588bfc57f33ea1b36b82ca7187f465b73b4ca4",
 "cancelled_at":null,
 "cancelled_by_client_uuid":null,
 "cancelled_by_user_uuid":null,
 "started_at":null,
 "finished_at":null,
 "output":null,
 "success":null,
 "running":null,
 "is_locked_by_uuid":null,
 "log":null,
 "runtime_constraints":{},
 "tasks_summary":{}
}
</code></pre>
</notextile>

Once the job completes, the output can be found in hu34D5B9-exome-filtered.vcf:

<notextile><pre><code>~$ <span class="userinput">arv keep ls bedd6ff56b3ae9f90d873b1fcb72f9a3+91</span>
hu34D5B9-exome-filtered.vcf
</code></pre>
</notextile>

h2. Notes

fn1. "Download the GATK tools":http://www.broadinstitute.org/gatk/download

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)