Official code repository for GATK versions 4 and up
Please see the GATK website, where you can download a precompiled executable, read documentation, ask questions, and receive technical support. For GitHub basics, see here.
This repository contains the next generation of the Genome Analysis Toolkit (GATK). The contents
of this repository are 100% open source and released under the Apache 2.0 license (see LICENSE.TXT).
GATK4 aims to bring together well-established tools from the GATK and
Picard codebases under a streamlined framework,
and to enable selected tools to be run in a massively parallel way on local clusters or in the cloud using
Apache Spark. It also contains many newly developed tools not present in earlier
releases of the toolkit.
brew install temurin@17
to install the Eclipse Foundation’s OpenJDK 17.gatk
frontend script).git lfs install
after downloading, followed by git lfs pull
fromlfs
./gradlew
script which willgatk
conda environment pre-configured and activated.Miniconda3-py310_23.10.0-1
from the miniconda download page, selecting the Linux orminiconda
used by the official GATK docker image.MacOSX-x86_64
installer, not the MacOSX-arm64
installer,/opt/miniconda
, and then restart your shell:bash Miniconda3-py310_23.10.0-1-[YOUR_OS].sh -p /opt/miniconda -b
conda config --set auto_update_conda false
libmamba
solver to greatly speed up creation of the conda environment:conda config --set solver libmamba
conda env create -f gatkcondaenv.yml
togatk
environment../gradlew localDevCondaEnv
. This generates the Pythongatk
conda environment.source activate gatk
to activate the gatk
environment../gradlew bundle
(creates gatk-VERSION.zip
in build/
)./gatk --help
./gatk --list
./gatk PrintReads -I src/test/resources/NA12878.chr17_69k_70k.dictFix.bam -O output.bam
./gatk PrintReads --help
You can download and run pre-built versions of GATK4 from the following places:
A zip archive with everything you need to run GATK4 can be downloaded for each release from the github releases page. We also host unstable archives generated nightly in the Google bucket gs://gatk-nightly-builds.
You can download a GATK4 docker image from our dockerhub repository. We also host unstable nightly development builds on this dockerhub repository.
Our docker image contains the following bioinformatics tools, which can be run by invoking the tool name from the command line:
We also include an installation of Python3 (3.10.13) with the following popular packages included:
We also include an installation of R (4.3.1) with the following popular packages included:
For more details on system packages, see the GATK Base Dockerfile and for more details on the Python3/R packages, see the Conda environment setup file. Versions for the Python3/R packages can be found there.
To do a full build of GATK4, first clone the GATK repository using “git clone”, then run:
./gradlew bundle
Equivalently, you can just type:
./gradlew
build/
directory with a name like gatk-VERSION.zip
containing a complete standalone GATK distribution, including our launcher gatk
, both the local and spark jars, and this README.src/main/resources/large
. The zipped source code alone is not buildable.src/main/resources/large/
are required to build GATK, since they are packaged inside the GATK jar and used by tools at runtime. These include things like ML models and native C/C++ libraries used for acceleration of certain tools.src/test/resources/large/
, on the other hand, are only required by the test suite when running tests, and are not required to build GATK.Other ways to build:
./gradlew installDist
./gradlew installAll
./gradlew localJar
build/libs
with a name like gatk-package-VERSION-local.jar
, and can be used outside of your git clone../gradlew sparkJar
build/libs
with a name like gatk-package-VERSION-spark.jar
, and can be used outside of your git clone.To remove previous builds, run:
./gradlew clean
For faster gradle operations, add org.gradle.daemon=true
to your ~/.gradle/gradle.properties
file.
This will keep a gradle daemon running in the background and avoid the ~6s gradle start up time on every command.
Gradle keeps a cache of dependencies used to build GATK. By default this goes in ~/.gradle
. If there is insufficient free space in your home directory, you can change the location of the cache by setting the GRADLE_USER_HOME
environment variable.
The version number is automatically derived from the git history using git describe
, you can override it by setting the versionOverride
property.
( ./gradlew -DversionOverride=my_weird_version printVersion
)
The standard way to run GATK4 tools is via the gatk
wrapper script located in the root directory of a clone of this repository.
gatk
can be run:
./gradlew bundle
to a directory, and running gatk
from theregatk
script within the same directory as fully-packaged GATK jars produced by ./gradlew localJar
and/or ./gradlew sparkJar
GATK_LOCAL_JAR
and GATK_SPARK_JAR
, and setting them to the paths to the GATK jars produced by ./gradlew localJar
and/or ./gradlew sparkJar
gatk
can run non-Spark tools as well as Spark tools, and can run Spark tools locally, on a Spark cluster, or on Google Cloud Dataproc.java -jar
directly and bypassing gatk
causes several important system properties to not get set, including htsjdk compression level!For help on using gatk
itself, run ./gatk --help
To print a list of available tools, run ./gatk --list
.
Spark
(eg., BaseRecalibratorSpark
). Most other tools are non-Spark-based.To print help for a particular tool, run ./gatk ToolName --help
.
To run a non-Spark tool, or to run a Spark tool locally, the syntax is: ./gatk ToolName toolArguments
.
Tool arguments that allow multiple values, such as -I, can be supplied on the command line using a file with the extension “.args”. Each line of the file should contain a
single value for the argument.
Examples:
./gatk PrintReads -I input.bam -O output.bam
./gatk PrintReadsSpark -I input.bam -O output.bam
To pass JVM arguments to GATK, run gatk
with the --java-options
argument:
./gatk --java-options "-Xmx4G" <rest of command>
./gatk --java-options "-Xmx4G -XX:+PrintGCDetails" <rest of command>
To pass a configuration file to GATK, run gatk
with the --gatk-config-file
argument:
./gatk --gatk-config-file GATKProperties.config <rest of command>
An example GATK configuration file is packaged with each release as GATKConfig.EXAMPLE.properties
This example file contains all current options that are used by GATK and their default values.
./gatk PrintReads -I gs://mybucket/path/to/my.bam -L 1:10000-20000 -O output.bam
gcloud auth application-default login
gcloud auth activate-service-account --key-file "$PATH_TO_THE_KEY_FILE"
GOOGLE_APPLICATION_CREDENTIALS
environment variable to point to the fileexport GOOGLE_APPLICATION_CREDENTIALS="$PATH_TO_THE_KEY_FILE"
GATK4 Spark tools can be run in local mode (without a cluster). In this mode, Spark will run the tool
in multiple parallel execution threads using the cores in your CPU. You can control how many threads
Spark will use via the --spark-master
argument.
Examples:
Run PrintReadsSpark
with 4 threads on your local machine:
./gatk PrintReadsSpark -I src/test/resources/large/CEUTrio.HiSeq.WGS.b37.NA12878.20.21.bam -O output.bam \
-- \
--spark-runner LOCAL --spark-master 'local[4]'
Run PrintReadsSpark
with as many worker threads as there are logical cores on your local machine:
./gatk PrintReadsSpark -I src/test/resources/large/CEUTrio.HiSeq.WGS.b37.NA12878.20.21.bam -O output.bam \
-- \
--spark-runner LOCAL --spark-master 'local[*]'
Note that the Spark-specific arguments are separated from the tool-specific arguments by a --
.
./gatk ToolName toolArguments -- --spark-runner SPARK --spark-master <master_url> additionalSparkArguments
Examples:
./gatk PrintReadsSpark -I hdfs://path/to/input.bam -O hdfs://path/to/output.bam \
-- \
--spark-runner SPARK --spark-master <master_url>
./gatk PrintReadsSpark -I hdfs://path/to/input.bam -O hdfs://path/to/output.bam \
-- \
--spark-runner SPARK --spark-master <master_url> \
--num-executors 5 --executor-cores 2 --executor-memory 4g \
--conf spark.executor.memoryOverhead=600
You can also omit the “–num-executors” argument to enable dynamic allocation if you configure the cluster properly (see the Spark website for instructions).
Note that the Spark-specific arguments are separated from the tool-specific arguments by a --
.
Running a Spark tool on a cluster requires Spark to have been installed from http://spark.apache.org/, since
gatk
invokes the spark-submit
tool behind-the-scenes.
Note that the examples above use YARN but we have successfully run GATK4 on Mesos as well.
gatk
invokes the gcloud
tool behind-the-scenes. As part of the installation, be suregcloud
setup instructions here. As this library is frequently updated by Google, we recommend updating your copy regularly to avoid any version-related difficulties.gs://my-gcs-bucket/path/to/my-file
Once you’re set up, you can run a Spark tool on your Dataproc cluster using a command of the form:
./gatk ToolName toolArguments -- --spark-runner GCS --cluster myGCSCluster additionalSparkArguments
Examples:
./gatk PrintReadsSpark \
-I gs://my-gcs-bucket/path/to/input.bam \
-O gs://my-gcs-bucket/path/to/output.bam \
-- \
--spark-runner GCS --cluster myGCSCluster
./gatk PrintReadsSpark \
-I gs://my-gcs-bucket/path/to/input.bam \
-O gs://my-gcs-bucket/path/to/output.bam \
-- \
--spark-runner GCS --cluster myGCSCluster \
--num-executors 5 --executor-cores 2 --executor-memory 4g \
--conf spark.yarn.executor.memoryOverhead=600
When using Dataproc you can access the web interfaces for YARN, Hadoop and HDFS by opening an SSH tunnel and connecting with your browser. This can be done easily using included gcs-cluster-ui
script.
scripts/dataproc-cluster-ui myGCSCluster
Or see these these instructions for more details.
Note that the spark-specific arguments are separated from the tool-specific arguments by a --
.
If you want to avoid uploading the GATK jar to GCS on every run, set the GATK_GCS_STAGING
environment variable to a bucket you have write access to (eg., export GATK_GCS_STAGING=gs://<my_bucket>/
)
Dataproc Spark clusters are configured with dynamic allocation so you can omit the “–num-executors” argument and let YARN handle it automatically.
Certain GATK tools may optionally generate plots using the R installation provided within the conda environment. If you are uninterested in plotting, R is still required by several of the unit tests. Plotting is currently untested and should be viewed as a convenience rather than a primary output.
A tab completion bootstrap file for the bash shell is now included in releases. This file allows the command-line shell to complete GATK run options in a manner equivalent to built-in command-line tools (e.g. grep).
This tab completion functionality has only been tested in the bash shell, and is released as a beta feature.
To enable tab completion for the GATK, open a terminal window and source the included tab completion script:
source gatk-completion.sh
Sourcing this file will allow you to press the tab key twice to get a list of options available to add to your current GATK command. By default you will have to source this file once in each command-line session, then for the rest of the session the GATK tab completion functionality will be available. GATK tab completion will be available in that current command-line session only.
Note that you must have already started typing an invocation of the GATK (using gatk) for tab completion to initiate:
./gatk <TAB><TAB>
echo "source <PATH_TO>/gatk-completion.sh" >> ~/.bashrc
<PATH_TO>
is the fully qualified path to the gatk-completion.sh
script.Do not put private or restricted data into the repo.
Try to keep datafiles under 100kb in size. Larger test files should go into src/test/resources/large
(and subdirectories) so that they’ll be stored and tracked by git-lfs as described above.
GATK4 is Apache 2.0 licensed. The license is in the top level LICENSE.TXT file. Do not add any additional license text or accept files with a license included in them.
Each tool should have at least one good end-to-end integration test with a check for expected output, plus high-quality unit tests for all non-trivial utility methods/classes used by the tool. Although we have no specific coverage target, coverage should be extensive enough that if tests pass, the tool is guaranteed to be in a usable state.
All newly written code must have good test coverage (>90%).
All bug fixes must be accompanied by a regression test.
All pull requests must be reviewed before merging to master (even documentation changes).
Don’t issue or accept pull requests that introduce warnings. Warnings must be addressed or suppressed.
Don’t issue or accept pull requests that significantly decrease coverage (less than 1% decrease is sort of tolerable).
Don’t use toString()
for anything other than human consumption (ie. don’t base the logic of your code on results of toString()
.)
Don’t override clone()
unless you really know what you’re doing. If you do override it, document thoroughly. Otherwise, prefer other means of making copies of objects.
For logging, use org.apache.logging.log4j.Logger
We mostly follow the Google Java Style guide
Git: Don’t push directly to master - make a pull request instead.
Git: Rebase and squash commits when merging.
If you push to master or mess up the commit history, you owe us 1 growler or tasty snacks at happy hour. If you break the master build, you owe 3 growlers (or lots of tasty snacks). Beer may be replaced by wine (in the color and vintage of buyer’s choosing) in proportions of 1 growler = 1 bottle.
Before running the test suite, be sure that you’ve installed git lfs
and downloaded the large test data, following the git lfs setup instructions
To run the test suite, run ./gradlew test
.
build/reports/tests/test/index.html
.TEST_TYPE
environment variable:
cloud
, unit
, integration
, conda
, spark
: run only the cloud, unit, integration, conda (python + R), or Spark testsall
: run the entire test suitegcloud
and authenticated with a project that has accessHELLBENDER_JSON_SERVICE_ACCOUNT_KEY
: path to a local JSON file with service account credentialsHELLBENDER_TEST_PROJECT
: your google cloud projectHELLBENDER_TEST_STAGING
: a gs:// path to a writable locationHELLBENDER_TEST_INPUTS
: path to cloud test data, ex: gs://hellbender/test/resources/TEST_VERBOSITY=minimal
will produce much less output from the test suiteTo run a subset of tests, use gradle’s test filtering (see gradle doc):
--tests
with a wildcard to run a specific test class, method, or to select multiple test classes:
./gradlew test --tests *SomeSpecificTestClass
./gradlew test --tests *SomeTest.someSpecificTestMethod
./gradlew test --tests all.in.specific.package*
To run tests and compute coverage reports, run ./gradlew jacocoTestReport
. The report is then in build/reports/jacoco/test/html/index.html
.
(IntelliJ has a good coverage tool that is preferable for development).
We use Github Actions as our continuous integration provider.
See the test report at
.We use Broad Jenkins for our long-running tests and performance tests.
To output stack traces for UserException
set the environment variable GATK_STACKTRACE_ON_USER_EXCEPTION=true
We use git-lfs to version and distribute test data that is too large to check into our repository directly. You must install and configure it in order to be able to run our test suite.
After installing git-lfs, run git lfs install
To manually retrieve the large test data, run git lfs pull
from the root of your GATK git clone.
To add a new large file to be tracked by git-lfs, simply:
src/test/resources/large
(or a subdirectory)git add
the file(s), then git commit -a
git lfs track
on the files manually: all files in src/test/resources/large
are tracked by git-lfs automatically.Ensure that you have gradle
and the Java 17 JDK installed
You may need to install the TestNG and Gradle plugins (in preferences)
Clone the GATK repository using git
In IntelliJ, click on “Import Project” in the home screen or go to File -> New… -> Project From Existing Sources…
Select the root directory of your GATK clone, then click on “OK”
Select “Import project from external model”, then “Gradle”, then click on “Next”
Ensure that “Gradle project” points to the build.gradle file in the root of your GATK clone
Select “Use auto-import” and “Use default gradle wrapper”.
Make sure the Gradle JVM points to Java 17. You may need to set this manually after creating the project, to do so find the gradle settings by clicking the wrench icon in the gradle tab on the right bar, from there edit “Gradle JVM” argument to point to Java 17.
Click “Finish”
After downloading project dependencies, IntelliJ should open a new window with your GATK project
Make sure that the Java version is set correctly by going to File -> “Project Structure” -> “Project”. Check that the “Project SDK” is set to your Java 17 JDK, and “Project language level” to 17 (you may need to add your Java 17 JDK under “Platform Settings” -> SDKs if it isn’t there already). Then click “Apply”/“Ok”.
Follow the instructions above for creating an IntelliJ project for GATK
Go to Run -> “Edit Configurations”, then click “+” and add a new “Application” configuration
Set the name of the new configuration to something like “GATK debug”
For “Main class”, enter org.broadinstitute.hellbender.Main
Ensure that “Use classpath of module:” is set to use the “gatk” module’s classpath
Enter the arguments for the command you want to debug in “Program Arguments”
Click “Apply”/“Ok”
Set breakpoints, etc., as desired, then select “Run” -> “Debug” -> “GATK debug” to start your debugging session
In future debugging sessions, you can simply adjust the “Program Arguments” in the “GATK debug” configuration as needed
If there are dependency changes in build.gradle
it is necessary to refresh the gradle project. This is easily done with the following steps.
Running JProfiler standalone:
./gradlew localJar
~/gatk/build/libs/gatk-package-4.alpha-196-gb542813-SNAPSHOT-local.jar
for “Main class or executable JAR” and enter the right “Arguments”Running JProfiler from within IntelliJ:
To upload snapshots to Sonatype you’ll need the following:
You must have a registered account on the sonatype JIRA (and be approved as a gatk uploader)
You need to configure several additional properties in your /~.gradle/gradle.properties
file
If you want to upload a release instead of a snapshot you will additionally need to have access to the gatk signing key and password
#needed for snapshot upload
sonatypeUsername=<your sonatype username>
sonatypePassword=<your sonatype password>
#needed for signing a release
signing.keyId=<gatk key id>
signing.password=<gatk key password>
signing.secretKeyRingFile=/Users/<username>/.gnupg/secring.gpg
To perform an upload, use
./gradlew uploadArchives
Builds are considered snapshots by default. You can mark a build as a release build by setting -Drelease=true
.
The archive name is based off of git describe
.
Please see the the Docker README in scripts/docker
. This has instructions for the Dockerfile in the root directory.
Please see the How to release GATK4 wiki article for instructions on releasing GATK4.
To generate GATK documentation, run ./gradlew gatkDoc
build/docs/gatkdoc
directory.A WDL wrapper can be generated for any GATK4 tool that is annotated for WDL generation (see the wiki article
How to Prepare a GATK tool for WDL Auto Generation)
to learn more about WDL annotations.
To generate the WDL Wrappers, run ./gradlew gatkWDLGen
. The generated WDLs and accompanying JSON input files can
be found in the build/docs/wdlGen
folder.
To generate WDL Wrappers and validate the resulting outputs, run ./gradlew gatkWDLGenValidation
.
Running this task requires a local cromwell installation, and environment
variables CROMWELL_JAR
and WOMTOOL_JAR
to be set to the full pathnames of the cromwell
and womtool
jar files.
If no local install is available, this task will run automatically on github actions in a separate job whenever a PR is submitted.
WDL wrappers for each GATK release are published to the gatk-tool-wdls repository.
Only tools that have been annotated for WDL generation will show up there.
We use Zenhub to organize and track github issues.
To add Zenhub to github, go to the Zenhub home page while logged in to github, and click “Add Zenhub to Github”
Zenhub allows the GATK development team to assign time estimates to issues, and to mark issues as Triaged/In Progress/In Review/Blocked/etc.
Apache Spark is a fast and general engine for large-scale data processing.
GATK4 can run on any Spark cluster, such as an on-premise Hadoop cluster with HDFS storage and the Spark
runtime, as well as on the cloud using Google Dataproc.
In a cluster scenario, your input and output files reside on HDFS, and Spark will run in a distributed fashion on the cluster.
The Spark documentation has a good overview of the architecture.
Note that if you don’t have a dedicated cluster you can run Spark in
standalone mode on a single machine, which exercises
the distributed code paths, albeit on a single node.
While your Spark job is running, the Spark UI is an excellent place to monitor the progress.
Additionally, if you’re running tests, then by adding -Dgatk.spark.debug=true
you can run a single Spark test and
look at the Spark UI (on http://localhost:4040/) as it runs.
You can find more information about tuning Spark and choosing good values for important settings such as the number
of executors and memory settings at the following:
(Note: section inspired by, and some text copied from, Apache Parquet)
We welcome all contributions to the GATK project. The contribution can be a issue report
or a pull request. If you’re not a committer, you will
need to make a fork of the gatk repository
and issue a pull request from your fork.
For ideas on what to contribute, check issues labeled “Help wanted (Community)”. Comment on the issue to indicate you’re interested in contibuting code and for sharing your questions and ideas.
To contribute a patch:
./gradlew test
in the root directory.We tend to do fairly close readings of pull requests, and you may get a lot of comments. Some things to consider:
IllegalArgumentException
if invalid.if
, for
etc.final
unless there is a strong reason not to.a+b
but a + b
and not foo(int a,int b)
but foo(int a, int b)
.Thank you for getting involved!
The authors list is maintained in the AUTHORS file.
See also the Contributors list at github.
If you use GATK in your research, please see this article for details on how to properly cite GATK.
Licensed under the Apache 2.0 License. See the LICENSE.txt file.