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 *This tutorial assumes that you are "logged into an Arvados VM instance":{{site.baseurl}}/user/getting_started/ssh-access.html#login, and have a "working environment.":{{site.baseurl}}/user/getting_started/check-environment.html*
  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  "script_version":"$src_version",
 101  "script_parameters":
 102  {
 103   "input":"$vcf_input",
 104   "gatk_binary_tarball":"$gatk_binary",
 105   "gatk_bundle":"$gatk_bundle"
 106  }
 107 }
 108 EOF</span>
 109 </code></pre>
 110 </notextile>
 111
 112 * @"input"@ is collection containing the source VCF data. Here we are using an exome report from PGP participant hu34D5B9.
 113 * @"gatk_binary_tarball"@ is a Keep collection containing the GATK 2 binary distribution[1] tar file.
 114 * @"gatk_bundle"@ is a Keep collection containing the GATK resource bundle[2].
 115
 116 Now start a job:
 117
 118 <notextile>
 119 <pre><code>~$ <span class="userinput">arv job create --job "$(cat the_job)"</span>
 120 {
 121  "href":"https://qr1hi.arvadosapi.com/arvados/v1/jobs/qr1hi-8i9sb-n9k7qyp7bs5b9d4",
 122  "kind":"arvados#job",
 123  "etag":"9j99n1feoxw3az448f8ises12",
 124  "uuid":"qr1hi-8i9sb-n9k7qyp7bs5b9d4",
 125  "owner_uuid":"qr1hi-tpzed-9zdpkpni2yddge6",
 126  "created_at":"2013-12-17T19:02:15Z",
 127  "modified_by_client_uuid":"qr1hi-ozdt8-obw7foaks3qjyej",
 128  "modified_by_user_uuid":"qr1hi-tpzed-9zdpkpni2yddge6",
 129  "modified_at":"2013-12-17T19:02:15Z",
 130  "updated_at":"2013-12-17T19:02:15Z",
 131  "submit_id":null,
 132  "priority":null,
 133  "script":"GATK2-VariantFiltration",
 134  "script_parameters":{
 135   "input":"5ee633fe2569d2a42dd81b07490d5d13+82",
 136   "gatk_binary_tarball":"c905c8d8443a9c44274d98b7c6cfaa32+94",
 137   "gatk_bundle":"d237a90bae3870b3b033aea1e99de4a9+10820"
 138  },
 139  "script_version":"76588bfc57f33ea1b36b82ca7187f465b73b4ca4",
 140  "cancelled_at":null,
 141  "cancelled_by_client_uuid":null,
 142  "cancelled_by_user_uuid":null,
 143  "started_at":null,
 144  "finished_at":null,
 145  "output":null,
 146  "success":null,
 147  "running":null,
 148  "is_locked_by_uuid":null,
 149  "log":null,
 150  "runtime_constraints":{},
 151  "tasks_summary":{},
 152  "dependencies":[
 153   "5ee633fe2569d2a42dd81b07490d5d13+82",
 154   "c905c8d8443a9c44274d98b7c6cfaa32+94",
 155   "d237a90bae3870b3b033aea1e99de4a9+10820"
 156  ],
 157  "log_stream_href":"https://qr1hi.arvadosapi.com/arvados/v1/jobs/qr1hi-8i9sb-n9k7qyp7bs5b9d4/log_tail_follow"
 158 }
 159 ~$ <span class="userinput">arv job log_tail_follow --uuid qr1hi-8i9sb-n9k7qyp7bs5b9d4</span>
 160 Tue Dec 17 19:02:16 2013 salloc: Granted job allocation 1251
 161 Tue Dec 17 19:02:17 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  check slurm allocation
 162 Tue Dec 17 19:02:17 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  node compute13 - 8 slots
 163 Tue Dec 17 19:02:17 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  start
 164 Tue Dec 17 19:02:17 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  Install revision 76588bfc57f33ea1b36b82ca7187f465b73b4ca4
 165 Tue Dec 17 19:02:18 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  Clean-work-dir exited 0
 166 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  Install exited 0
 167 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  script GATK2-VariantFiltration
 168 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  script_version 76588bfc57f33ea1b36b82ca7187f465b73b4ca4
 169 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  script_parameters {"input":"5ee633fe2569d2a42dd81b07490d5d13+82","gatk_bundle":"d237a90bae3870b3b033aea1e99de4a9+10820","gatk_binary_tarball":"c905c8d8443a9c44274d98b7c6cfaa32+94"}
 170 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  runtime_constraints {"max_tasks_per_node":0}
 171 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  start level 0
 172 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  status: 0 done, 0 running, 1 todo
 173 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 0 job_task qr1hi-ot0gb-d3sjxerucfbvyev
 174 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 0 child 4946 started on compute13.1
 175 Tue Dec 17 19:02:19 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  status: 0 done, 1 running, 0 todo
 176 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 0 child 4946 on compute13.1 exit 0 signal 0 success=true
 177 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 0 success in 1 seconds
 178 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 0 output
 179 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  wait for last 0 children to finish
 180 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  status: 1 done, 0 running, 1 todo
 181 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  start level 1
 182 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  status: 1 done, 0 running, 1 todo
 183 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 1 job_task qr1hi-ot0gb-w8ujbnulxjaamxf
 184 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 1 child 4984 started on compute13.1
 185 Tue Dec 17 19:02:20 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  status: 1 done, 1 running, 0 todo
 186 Tue Dec 17 19:04:10 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 1 child 4984 on compute13.1 exit 0 signal 0 success=true
 187 Tue Dec 17 19:04:10 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 1 success in 110 seconds
 188 Tue Dec 17 19:04:10 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867 1 output bedd6ff56b3ae9f90d873b1fcb72f9a3+91
 189 Tue Dec 17 19:04:10 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  wait for last 0 children to finish
 190 Tue Dec 17 19:04:10 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  status: 2 done, 0 running, 0 todo
 191 Tue Dec 17 19:04:10 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  release job allocation
 192 Tue Dec 17 19:04:10 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  Freeze not implemented
 193 Tue Dec 17 19:04:10 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  collate
 194 Tue Dec 17 19:04:10 2013 salloc: Job allocation 1251 has been revoked.
 195 Tue Dec 17 19:04:10 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  output bedd6ff56b3ae9f90d873b1fcb72f9a3+91
 196 Tue Dec 17 19:04:11 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  finish
 197 Tue Dec 17 19:04:12 2013 qr1hi-8i9sb-n9k7qyp7bs5b9d4 4867  log manifest is 1e77aaceee2df499e14dc5dde5c3d328+91
 198 </code></pre>
 199 </notextile>
 200
 201 Once the job completes, the output can be found in hu34D5B9-exome-filtered.vcf:
 202
 203 <notextile><pre><code>~$ <span class="userinput">arv keep ls bedd6ff56b3ae9f90d873b1fcb72f9a3+91</span>
 204 hu34D5B9-exome-filtered.vcf
 205 </code></pre>
 206 </notextile>
 207
 208 h2. Notes
 209
 210 fn1. "Download the GATK tools":http://www.broadinstitute.org/gatk/download
 211
 212 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)