--- layout: default navsection: userguide title: "Tutorial: GATK VariantFiltration" navorder: 22 --- h1. Tutorial: GATK VariantFiltration Here you will use the GATK VariantFiltration program to assign pass/fail scores to variants in a VCF file. _This should be motivated better using a specific biomedical research or diagnostic question that involves this analysis_ _From conversation with Ward: We should link to a discussion of the personal genome project and explain that it a freely available dataset that any researcher can use, which makes it appropriate to be used in these examples._ h3. Prerequisites * Log in to a VM "using SSH":ssh-access.html * Put an "API token":api-tokens.html in your @ARVADOS_API_TOKEN@ environment variable * Put the API host name in your @ARVADOS_API_HOST@ environment variable If everything is set up correctly, the command @arv -h user current@ will display your account information. h3. Get the GATK binary distribution. _Perhaps separate out this and the next sections and link to it so the user only has to do this if they really don't have GATK installed. Also provide a way to determine if they do have it._ Download the GATK binary tarball[1] -- e.g., @GenomeAnalysisTK-2.6-4.tar.bz2@ -- and copy it to your Arvados VM. _Is it necessary to copy it to the Arvados VM first, you could put it into keep from your desktop and/or use the workbench? Also if we are telling them to copy it to the VM, maybe we should mention scp?_ Store it in Keep.
arv keep put --in-manifest GenomeAnalysisTK-2.6-4.tar.bz2↓ _Make the itty bitty down arrows bigger, and maybe center them_
c905c8d8443a9c44274d98b7c6cfaa32+94+K@qr1hih3. Get the GATK resource bundle. This can take a while to download, and should already be available in Arvados. For now let's just list the files and sizes, to make sure we have the correct collection ID.
arv keep ls -s d237a90bae3870b3b033aea1e99de4a9+10820+K@qr1hi↓
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 ...h3. Submit a job. 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. We will pass it the following parameters: * input -- a collection containing the source VCF data. Here we will use an exome report from PGP participant hu34D5B9. * gatk_binary_tarball -- a collection containing the GATK 2 tarball. * gatk_bundle -- a collection containing the GATK resource bundle[2].
src_version=76588bfc57f33ea1b36b82ca7187f465b73b4ca4 vcf_input=5ee633fe2569d2a42dd81b07490d5d13+82+K@qr1hi gatk_binary=c905c8d8443a9c44274d98b7c6cfaa32+94+K@qr1hi gatk_bundle=d237a90bae3870b3b033aea1e99de4a9+10820+K@qr1hi read -rd $'\000' the_job <Note the job UUID in the API response. h3. Monitor job progress _This was already covered in tutorial1_ There are three ways to monitor job progress: # Go to Workbench, drop down the Compute menu, and click Jobs. The job you submitted should appear at the top of the list. Hit "Refresh" until it finishes. # Run @arv -h job get --uuid JOB_UUID_HERE@ to see the job particulars, notably the "tasks_summary" attribute which indicates how many tasks are done/running/todo. # Watch the crunch log messages and stderr from the job tasks: curl -s -H "Authorization: OAuth2 $ARVADOS_API_TOKEN" \ https://{{ site.arvados_api_host }}/arvados/v1/jobs/JOB_UUID_HERE/log_tail_follow_That's it? Say something about the output we're going to get_ h3. 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