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The makeflow_gatk program performs variant calling on a genome sequences listed in a SAM/BAM
file against the given fasta reference. It uses the GenomeAnalysisTK, by BroadInstitute. The
splitting creates sections of the reference and groups the aligned query data with the
corresponding partition. These sequences are then compared and the variants expressed in a
VCF file. The program uses the Makeflow and Work Queue frameworks for distributed execution
on available resources.
To build Makeflow:
1. Install GenomeAnalysisTK.jar and all its required dependencies. GATK can be downloaded from:
https://www.broadinstitute.org/gatk/download
2. Install CCTools.
3. Either copy makeflow_gatk from cctools/bin to the location the makeflow will be executed, or include cctools/bin in your path.
4. Copy GenomeAnalysisTK.jar to the location the makeflow will be executed.
5. Due to GenomeAnalysisTK.jar strict Java requirements, when distributing the proper Java version needs to be included. Create jre.zip :
wget http://javadl.sun.com/webapps/download/AutoDL?BundleId=97800
tar zxf AutoDL*
mkdir jre
mv jre1*/* jre
rmdir jre1*
zip -r jre.zip jre/*
6. Run './makeflow_gatk -T HaplotypeCaller --reference-sequence test_ref.fa --input-file test_query.sam --out output.vcf --makeflow Makeflow'
This produces a file called Makeflow.
To run:
1. Run 'makeflow'
Note if the --makeflow option is specified with a MAKEFLOWFILE, run
makeflow <MAKEFLOWFILE>
This step runs the makeflow locally on the machine on which it is executed.
2. If you want to run with a distributed execution engine (Work Queue, Condor,
or SGE), specify the '-T' option. For example, to run with Work Queue,
makeflow -T wq
3. Start Workers
work_queue_workers -d all <HOSTNAME> <PORT>
where <HOSTNAME> is the name of the host on which the manager is running
<PORT> is the port number on which the manager is listening.
Alternatively, you can also specify a project name for the manager and use that
to start workers:
1. makeflow -T wq -N GATK
2. work_queue_worker -d all -N GATK
For listing the command-line options, do:
./makeflow_gatk -h
When the alignment completes, you will find the whole output from the individual partitions
in the directory the makeflow was run in.
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