It's finally summer here in New England -- time for cave-dwelling developers to hit the beach and do the lobster dance (those of us who don't tan well anyway). We leave you with a new version of the GATK that includes a new(ish) plotting tool, some more performance improvements to the callers, a lot of feature tweaks and quite a few bug fixes. Be sure to check out the full list in the 2.6 Release Notes.
Highlights are below as usual, enjoy. There's one thing that we need to point out with particular emphasis: we have moved to Java 7, so you may need to update your system's Java version. Full explanation at the end of this document because it's a little long, but be sure to read it.
New(ish) plotting tool for Base Recalibration results
GATK old-timers may remember a tool called AnalyzeCovariates, which was part of the BQSR process in 1.x versions, many moons ago. Well, we've resurrected it to take over the plotting functionality of the BaseRecalibrator, to make it easier and faster to plot and compare the results of base recalibration. This also prevents issues with plot generation in scatter-gather mode. We'll update our docs on the BQSR workflow in the next few days, but in the meantime you can find full details of how to use this tool here.
HaplotypeCaller now so sensitive, it cries at the movies
We know you don't want to miss a single true variant, so for this release, we've put a lot of effort into making the HaplotypeCaller more sensitive. And it's paying off: in our tests, the HaplotypeCaller is now more sensitive than the UnifiedGenotyper for calling both SNPs and indels when run over whole genome datasets.
[graph to illustrate, coming soon]
UnifiedGenotyper: not out of the race yet
You might think all our focus is on improving the HaplotypeCaller these days; you would be wrong. The UnifiedGenotyper is still essential for calling large numbers of samples together, for dealing with exotic ploidies, and for calling pooled samples. So we've given it a turbo boost that makes it go twice as fast for calling indels on multiple samples.
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The key change here is the updated Hidden Markov Model used by the UG. You can see on the graph that as the number of exomes being called jointly increases, the new HMM keeps runtimes down significantly compared to the old HMM.
Version tracking in the VCF header
Don’t you hate it when you go back to a VCF you generated some months ago, and you have no idea which version of GATK you used at the time? (And yes, versions matter. Sometimes a lot.) We sure do, so we added a function to add the GATK version number in the header of the VCFs generated by GATK.
Migration to Java 7
Speaking of software versions... As you probably know, the GATK runs on Java -- specifically, until now, version 6 of the Runtime Environment (which translates to version 1.6 if you ask java -version at the command prompt). But the Java language has been evolving under our feet; version 7 has been out and stable for some time now, and version 8 is on the horizon. We were happy as clams with Java 6… but now, newer computers with recent OS versions ship with Java 7, and on MacOS X once you update the system it is difficult to go back to using Java 6. And since Java 7 is not fully backwards compatible, people have been running into version problems.
So, we have made the difficult but necessary decision to follow the tide, and migrate the GATK to Java 7. Starting with this release, GATK will now require Java 7 to run. If you try to run with Java 6, you will probably get an error like this:
Exception in thread "main" java.lang.UnsupportedClassVersionError: org/broadinstitute/sting/gatk/CommandLineGATK : Unsupported major.minor version 51.0
If you're not sure what version of Java you are currently using, you can find out very easily by typing the following command:
java -version
which should return something like this:
java version "1.7.0_17"
Java(TM) SE Runtime Environment (build 1.7.0_17-b02)
Java HotSpot(TM) 64-Bit Server VM (build 23.7-b01, mixed mode)
If not, you'll need to update your java version. If you have any difficulty doing this, please don’t ask us in the forum -- you’ll get much better, faster help if you ask your local IT department.