The GATK is a structured software library that makes writing efficient analysis tools using next-generation sequencing data very easy, and second it's a suite of tools for working with human medical resequencing projects such as 1000 Genomes and The Cancer Genome Atlas. These tools include things like a depth of coverage analyzers, a quality score recalibrator, a SNP/indel caller and a local realigner.
We aim to work well with both samtools and Picard by providing complementary tools to those available in those two packages. Our SNP calling pipeline (Q score recalibration -> multiple sequence realignment -> snp/index calling) is a particular area of focus, and have been pushing to make these capabilities as general-purpose and powerful as possible. My group's mandate is to ensure the success of the human medical resequencing projects we've undertaken at the Broad over the next 2-3 years, which involves providing a robust, production-quality development library that underlies tools for common analysis problems (like SNP calling) as well as enabling exploratory research on NGS data. Upstream documentation for gatk.
- HPC_GATK_DIR - installation directory
We provide a wrapper script GenomeAnalysisTK for gatk module versions before 4.0 that is equivalent to running
mkdir -p tmp export TMPDIR=$(pwd)/tmp java -Djava.io.tmpdir=$TMPDIR -cp /apps/gatk/jexl/2.1.1/commons-jexl-2.1.1.jar -jar $HPC_GATK_DIR/GenomeAnalysisTK.jar
If you do not use the wrapper you must make sure to create and use a local TMPDIR in your /blue space with GenomeAnalysisTK.jar. Otherwise /tmp will be used by default leading to filled up /tmp partitions on compute nodes and node failure.
Starting with GATK4 new upstream wrappers are available, so we no longer include our own wrapper. GenomeAnalysisTK and gatk. Running GenomeAnalysisTK will show you how to run 'gatk' tools. To get a full list of tools run 'gatk list'.