-- Global mismapping penalty was only applied to the reference haplotype. This led to problems with overlapping events, mostly STR haplotypes. Now the penalty is applied to every haplotype.
-- We subset the reads down to only those which overlap the event (after assembly based realignment) for likelihood calculations.
In these cases, where the alignment contains multiple indels, we output a single complex
variant instead of the multiple partial indels.
We also re-enable dangling tail recovery by default.
-- AD,DP will now correspond directly to the reads that were used to construct the PLs
-- RankSumTests, etc. will use the bases from the realigned reads instead of the original alignments
-- There is now no additional runtime cost to realign the reads when using bamout or GVCF mode
-- bamout mode no longer sets the mapping quality to zero for uninformative reads, instead the read will not be given an HC tag
(Right now it only works if all members of the trio are called.)
Takes posteriors as input, defaulting to PLs
Added annotations for possible de novos for us in full genotype refinement pipeline
Added family priors to CGP integration test.
Changed CGP to use PP tag instead of GP tag because posteriors are Phred-scaled. Updated CGP integration test md5s to reflect change.
- New arguments are nda, hets, indelHeterozygosity, stand_call_conf, stand_emit_conf, ploidy, and maxAltAlleles
- Addresses PT 70110918
- To do this, moved those arguments out of the StandardCallerArgumentCollection into a new GenotypeCalculationArgumentCollection, which is now included as a member of SCAC
-They are now only computed when necessary
-Log10Cache is dynamically resizable, either by calling get() on an out-of-range value or by calling ensureCacheContains
-Log10FactorialCache and JacobianLogTable are initialized to a fixed size on first access and are not resizable
-Addresses PT 69124396
-Make BaseTest.createTempFile() mark any possible corresponding index files for deletion on exit
-Make WalkerTest mark shadow BCF files and auxiliary for deletion on exit
-Make VariantRecalibrationWalkersIntegrationTest mark PDF files for deletion on exit
-- disabling HC+VA integration test because, as noted in the comments, it keeps switching PairHMM implementations and giving different results at a particular site used in that particular test
Stories:
- https://www.pivotaltracker.com/story/show/69577868
Changes:
- Added a epsilon difference tolerance in weight comparisons.
Tests:
- Added HaplotypeCallerIntegrationTest#testDifferentIndelLocationsDueToSWExactDoubleComparisonsFix
- Updated md5 due to minor likelihood changes.
- Disabled a test for PathUtils.calculateCigar since does not work and is unclear what is causing the error (needs original author input)
To reduce merge conflicts, this commit modifies contents of files, while file renamings are in previous commit.
See previous commit message for list of changes.
To reduce merge conflicts, this commit only renames files, while file modifications are in next commit.
Some updates/fixes here are actually included in the next commit.
= Maven updates
Moved artifacts to new package names:
* private/queue-private -> private/gatk-queue-private
* private/gatk-private -> private/gatk-tools-private
* public/gatk-package -> protected/gatk-package-distribution
* public/queue-package -> protected/gatk-queue-package-distribution
* protected/gatk-protected -> protected/gatk-tools-protected
* public/queue-framework -> public/gatk-queue
* public/gatk-framework -> public/gatk-tools-public
New poms for new artifacts and packages:
* private/gatk-package-internal
* private/gatk-queue-package-internal
* private/gatk-queue-extensions-internal
* protected/gatk-queue-extensions-distribution
* public/gatk-engine
Updated references to StingText.properties to GATKText.properties.
Updated ant-bridge.sh to use gatk.* properties instead of sting.*.
= Engine updates
Renaming files containing engine parts from o.b.gatk.tools to o.b.gatk.engine.
Changed package references from tools to engine for CommandLineGATK, GenomeAnalysisEngine, ReadMetrics, ReadProperties, and WalkerManager.
Changed package reference tools.phonehome to engine.phonehome.
Renamed classes *Sting* to *GATK*, such as ReviewedGATKException.
= Test updates
Moved gatk example resources.
Moved test engine files from tools to engine packages.
Moved resources for phonehome to proper package.
Moved test classes under o.b.gatk into packages:
* o.b.g.utils.{BaseTest,ExampleToCopyUnitTest,GATKTextReporter,MD5DB,MD5Mismatch,TestNGTestTransformer}
* o.b.g.engine.walkers.WalkerTest
Updated package names in DependencyAnalyzerOutputLoaderUnitTest's data.
= Queue updates
Moving queue scripts to location where generated extensions can be used.
Renamed *.q to *.scala, updating licenses previously missed by git hooks.
Moved queue extensions to new artifact gatk-queue-extensions.
Fixed import statments frequently merge-conflicting on FullProcessingPipeline.scala.
= BWA
Added README on how to obtain and include bwa as a library.
Updated libbwa build.
Fixed packaged names under bwa/java implementation.
Updated contents of BWCAligner native implementation.
= Other fixes
Don't duplicate the resource bundle entries by both unpacking *and* appending.
(partial fix) Staged engine and utils poms to build GATKText.properties, once Utils random generator dependency on GATK engine is fixed.
Re-enabled custom testng listeners/reporters and moved testng dependencies to the gatk-root.
Updated comments referencing Sting with GATK.
Moved a couple untangled classes from gatk-tools-public to gatk-utils and gatk-engine.
The JNI treats shared memory as critical memory and doesn't allow any
parallel reads or writes to it until the native code finishes. This is
not a problem *per se* it is the right thing to do, but we need to
enable **-nct** when running the haplotype caller and with it have
multiple native PairHMM running for each map call.
Move to a copy based memory sharing where the JNI simply copies the
memory over to C++ and then has no blocked critical memory when running,
allowing -nct to work.
This version is slightly (almost unnoticeably) slower with -nct 1, but
scales better with -nct 2-4 (we haven't tested anything beyond that
because we know the GATK falls apart with higher levels of parallelism
* Make VECTOR_LOGLESS_CACHING the default implementation for PairHMM.
* Changed version number in pom.xml under public/VectorPairHMM
* VectorPairHMM can now be compiled using gcc 4.8.x
* Modified define-* to get rid of gcc warnings for extra tokens after #undefs
* Added a Linux kernel version check for AVX - gcc's __builtin_cpu_supports function does not check whether the kernel supports AVX or not.
* Updated PairHMM profiling code to update and print numbers only in single-thread mode
* Edited README.md, pom.xml and Makefile for users to pass path to gcc 4.8.x if necessary
* Moved all cpuid inline assembly to single function Changed info message to clog from cinfo
* Modified version in pom.xml in VectorPairHMM from 3.1 to 3.2
* Deleted some unnecessary code
* Modified C++ sandbox to print per interval timing
Story:
https://www.pivotaltracker.com/story/show/68220438
Changes:
- PL-less input genotypes are now uncalled and so non-variant sites when combining GVCFs.
- HC GVCF/BP_RESOLUTION Mode now outputs non-variant sites in sites covered by deletions.
- Fixed existing tests
Test:
- HaplotypeCallerGVCFIntegrationTest
- ReferenceConfidenceModelUnitTest
- CombineGVCFsIntegrationTest
story:
https://www.pivotaltracker.com/story/show/69648104
description:
This read transformer will refactor cigar strings that contain N-D-N elements to one N element (with total length of the three refactored elements).
This is intended primarily for users of RNA-Seq data handling programs such as TopHat2.
Currently we consider that the internal N-D-N motif is illegal and we error out when we encounter it. By refactoring the cigar string of
those specific reads, users of TopHat and other tools can circumvent this problem without affecting the rest of their dataset.
edit: address review comments - change the tool's name and change the tool to be a readTransformer instead of read filter
CalculateGenotypePosteriors now only computes posterior probs for SNP sites with SNP priors
(other sites have flat priors applied)
CalibrateGenotypeLikelihoods had originally applied HOM_REF/HET/HOM_VAR frequencies in callset as priors before empirical quality analysis. Now has option (-noPriors) to not apply/apply flat priors. Also takes in new external probabilities files, such as those generated by CGP, from which the genotype posterior probability qualities will be read.
Integration test was changed to account for new SNP-only behavior and default behavior to not use missing priors.
(Also, new numRefIfMissing is 0, which should only matter in cases using few samples when you probably don't want to be doing that anyway!)
Description:
Transforms a delegation dependency from HC to UG genotyping engine into a reusage by inhertance where HC and UG engines inherit from a common superclass GenotyperEngine
that implements the common parts. A side-effect some of the code is now more clear and redundant code has been removed.
Changes have a few consequence for the end user. HC has now a few more user arguments, those that control the functionality that HC was borrowing directly from UGE.
Added -ploidy argument although it is contraint to be 2 for now.
Added -out_mode EMIT_ALL_SITES|EMIT_VARIANTS_ONLY ...
Added -allSitePLs flag.
Stories:
https://www.pivotaltracker.com/story/show/68017394
Changes:
- Moved (HC's) GenotyperEngine to HaplotypeCallerGenotyperEngine (HCGE). Then created a engine superclass class GenotypingEngine (GE) that contains common parts between HCGE and the UG counterpart 'UnifiedGenotypingEngine' (UGE). Simplified the code and applied the template pattern to accomodate for small diferences in behaviour between both caller
engines. (There is still room for improvement though).
- Moved inner classes and enums to top-level components for various reasons including making them shorter and simpler names to refer to them.
- Create a HomoSpiens class for Human specific constants; even if they are good default for most users we need to clearly identify the human assumption across the code if we want to make
GATK work with any species in general; i.e. any reference to HomoSapiens, except as a default value for a user argument, should smell.
- Fixed a bug deep in the genotyping calculation we were taking on fixed values for snp and indel heterozygisity to be the default for Human ignoring user arguments.
- GenotypingLikehooldCalculationCModel.Model to Gen.*Like.*Calc.*Model.Name; not a definitive solution though as names are used often in conditionals that perhaps should be member methods of the
GenLikeCalc classes.
- Renamed LikelihoodCalculationEngine to ReadLikelihoodCalculationEngine to distinguish them clearly from Genotype likelihood calculation engines.
- Changed copy by explicity argument listing to a clone/reflexion solution for casting between genotypers argument collection classes.
- Created GenotypeGivenAllelesUtils to collect methods needed nearly exclusively by the GGA mode.
Tests :
- StandardCallerArgumentCollectionUnitTest (check copy by cloning/reflexion).
- All existing integration and unit tests for modified classes.
Following reviewers comments the command line interface has been simplified.
All extra strict validations are performed by default (as before) and the
user has to indicate which one he/she does not want to use with --validationTypeToExclude.
Before he/she was able to indicate the only ones to apply with --validationType but that has been scrapped out.
Stories:
- https://www.pivotaltracker.com/story/show/68725164
Changes:
- Removed validateType argument.
- Improved documentation.
- Added some warnning log message on suspicious argument combinations.
Tests:
- ValidateVariantsIntegrationTest#*
-- This is needed so the ref model pipeline can cut down to sites-only files without losing these useful statistics.
-- Added new unit test to test this info field annotation.
-- GenotypeGVCF integration tests change because new annotations are present in the output
More concretelly Picard's strict VCF validation does not like that there is alternative alleles that are not participating in any genotype call across samples.
This is an issue with GVCF in the single-sample pipeline where this is certainly expected with <NON_REF> and other relative unlikely alleles.
To solve this issue we allow the user to exclude some of the strict validations using a new argument --validationTypeToExclude. In order to avoid the validation
issue with GVCF the user needs to add the following to the command line: '--validationTypeToExclude ALLELES'
Story:
https://www.pivotaltracker.com/story/show/68725164
Changes:
- Added validateTypeToExclude argument to ValidateVariants walker.
- Implemented the selective exclusion of validation types.
- Added new info and improved existing documentation of the ValidateVariants walker.
Tests:
- ValidateVariantsIntegrationTest#testUnusedAlleleError
- ValidateVariantsIntegrationTest#testUnusedAlleleFix
In some cases, the program records were being removed from the BAM headers by the GATK engine
before we applied the check for reduced reads (so we did not fail appropriately). Pushed up the
check to happen before the PG tags are modified and added a unit test to ensure it stays that way.
It turns out that some UG tests still used reduced bams so I switched to use different ones.
Based on reviewer feedback, made it more generic so that it's easy to add new unsupported tools.
Previously it required you to create a single sample VCF and then to pass that in to the tool, but
Geraldine convinced me that this was a pain for users (because they usually have multi-sample VCFs).
Instead now you can pass in a multi-sample VCF and specify which sample's genotypes should be used
for the IUPAC encoding. Therefore the argument changed from '--useIUPAC' to '--use_IUPAC_sample NA12878'.
Stories:
https://www.pivotaltracker.com/story/show/66263868
Bug:
The problem was due to the way we were calculating the fix penalty of a large deletion or insertion. In this case we calculate the alignment likelihood of the portion
or read or haplotype deletion as the penalty of that deletion/insertion without going through the full pair-hmm process. For large events this resulted in a 0 in
in linear scale computations that ins transformed into an infinity in log scale.
Changes:
- Change to use log10 scale for calculate those penalties.
- Minor addition of .gitignore to hide ./public/external-example/target which is generated by the building process.
- SamPairUtils migrated in Picard r1737
- Revert IndelRealigner changes made in commit 4f4b85
-- Those changes were based on Picard revision 1722 to net/sf/picard/sam/SamPairUtil.java
-- Picard revision 1723 reverts these changes, so we also revert to match
Story:
- https://www.pivotaltracker.com/story/show/67601310
Change:
- Unless recover-danging-heads is active, the threading starting location policy is the original one. i.e. just at already existing unique kmer vertices.
Tests:
- HaplotypeCallerIntegrationTest#testMissingKeyAlternativeHaplotypesBugFix
1. Enable on-the-fly indexing for vcf.gz.
2. Handle on-the-fly indexing where file to be indexed is not a regular file, thus index should not be created.
3. Add method setProgressLogger to all SAMFileWriter implementations.
4. Revved picard to 1.109.1722
5. IndelRealigner md5s change because the MC tag is added to records now.
Fixed up and signed off by ebanks.
Currently the best haplotypes are those that accumulate the largest ABSOLUTE edge *multiplicity* sum across their path in the assembly graph.
The edge *mulitplicity* is equal to the number of reads that expand through that edge, i.e. have a kmer that uniquely map to some vertex up-stream from the edge and the following base calls extend across that edge to vertices downstream from it.
Despite that it is obvious that higher multiplicties correlated with haplotype probability this criterion fails short in some regards of which the most relevant is:
As it is evaluated in condensed seq-graph (as supposed to uncompressed read-threading-graphs) it is bias to haplotypes that have more short-sequence vetices
( -> ATGC -> CA -> has worse score than -> A -> T -> G -> C -> C -> A ->). This is partly result of how we modify the edge multiplicities when we merge vertices from a linear chain.
This pull-request addresses the problem by changing to a new scoring schema based in likelihood estimates:
Each haplotype's likelihood can be calculated as the multiplication of the likelihood of "taking" its edges in the assembly graph. The likelihood of "taking" an edge in the assembly
graph is calculated as its multiplicity divide by the sum of multiplicity of edges that share the same source vertex.
This pull-request addresses the following stories:
https://www.pivotaltracker.com/story/show/66691418https://www.pivotaltracker.com/story/show/64319760
Change Summary:
1. Change to the new scoring schema.
2. Added a graph DOT printing code to KBestHaplotypeFinder in order to diagnose scoring.
3. Graph transformation have been modified in order to generate no 0-multiplicity edges. (Nevertheless the schema above should work with 0 edges assuming that they are in fact 0.5)
Enable it with the new --useIUPAC argument.
Added both unit and integration tests for the new functionality - and fixed up the
exising tests once I was in there.
-- All the provided alleles are added to the assembly graph as potential haplotypes but they aren't forcibly genotyped like in GGA mode.
-- Added integration test for this mode
-These tests are really integration tests for Queue rather than generalized
pipeline tests, so it makes sense to call them QueueTests.
-Rename test classes and maven build targets, and update shell scripts
to reflect new naming.
C++ code has PAPI calls for reading hardware counters
Followed Khalid's suggestion for packing libVectorLoglessCaching into
the jar file with Maven
Native library part of git repo
1. Renamed directory structure from public/c++/VectorPairHMM to
public/VectorPairHMM/src/main/c++ as per Khalid's suggestion
2. Use java.home in public/VectorPairHMM/pom.xml to pass environment
variable JRE_HOME to the make process. This is needed because the
Makefile needs to compile JNI code with the flag -I<JRE_HOME>/../include (among
others). Assuming that the Maven build process uses a JDK (and not just
a JRE), the variable java.home points to the JRE inside maven.
3. Dropped all pretense at cross-platform compatibility. Removed Mac
profile from pom.xml for VectorPairHMM
Moved JNI_README
1. Added the catch UnsatisfiedLinkError exception in
PairHMMLikelihoodCalculationEngine.java to fall back to LOGLESS_CACHING
in case the native library could not be loaded. Made
VECTOR_LOGLESS_CACHING as the default implementation.
2. Updated the README with Mauricio's comments
3. baseline.cc is used within the library - if the machine supports
neither AVX nor SSE4.1, the native library falls back to un-vectorized
C++ in baseline.cc.
4. pairhmm-1-base.cc: This is not part of the library, but is being
heavily used for debugging/profiling. Can I request that we keep it
there for now? In the next release, we can delete it from the
repository.
5. I agree with Mauricio about the ifdefs. I am sure you already know,
but just to reassure you the debug code is not compiled into the library
(because of the ifdefs) and will not affect performance.
1. Changed logger.info to logger.warn in PairHMMLikelihoodCalculationEngine.java
2. Committing the right set of files after rebase
Added public license text to all C++ files
Added license to Makefile
Add package info to Sandbox.java
Conflicts:
protected/gatk-protected/src/main/java/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCaller.java
protected/gatk-protected/src/main/java/org/broadinstitute/sting/gatk/walkers/haplotypecaller/PairHMMLikelihoodCalculationEngine.java
protected/gatk-protected/src/main/java/org/broadinstitute/sting/utils/pairhmm/DebugJNILoglessPairHMM.java
protected/gatk-protected/src/main/java/org/broadinstitute/sting/utils/pairhmm/JNILoglessPairHMM.java
protected/gatk-protected/src/main/java/org/broadinstitute/sting/utils/pairhmm/VectorLoglessPairHMM.java
public/VectorPairHMM/src/main/c++/.gitignore
public/VectorPairHMM/src/main/c++/LoadTimeInitializer.cc
public/VectorPairHMM/src/main/c++/LoadTimeInitializer.h
public/VectorPairHMM/src/main/c++/Makefile
public/VectorPairHMM/src/main/c++/Sandbox.cc
public/VectorPairHMM/src/main/c++/Sandbox.h
public/VectorPairHMM/src/main/c++/Sandbox.java
public/VectorPairHMM/src/main/c++/Sandbox_JNIHaplotypeDataHolderClass.h
public/VectorPairHMM/src/main/c++/Sandbox_JNIReadDataHolderClass.h
public/VectorPairHMM/src/main/c++/baseline.cc
public/VectorPairHMM/src/main/c++/define-double.h
public/VectorPairHMM/src/main/c++/define-float.h
public/VectorPairHMM/src/main/c++/define-sse-double.h
public/VectorPairHMM/src/main/c++/define-sse-float.h
public/VectorPairHMM/src/main/c++/headers.h
public/VectorPairHMM/src/main/c++/jnidebug.h
public/VectorPairHMM/src/main/c++/org_broadinstitute_sting_utils_pairhmm_DebugJNILoglessPairHMM.cc
public/VectorPairHMM/src/main/c++/org_broadinstitute_sting_utils_pairhmm_DebugJNILoglessPairHMM.h
public/VectorPairHMM/src/main/c++/org_broadinstitute_sting_utils_pairhmm_VectorLoglessPairHMM.cc
public/VectorPairHMM/src/main/c++/org_broadinstitute_sting_utils_pairhmm_VectorLoglessPairHMM.h
public/VectorPairHMM/src/main/c++/pairhmm-template-kernel.cc
public/VectorPairHMM/src/main/c++/pairhmm-template-main.cc
public/VectorPairHMM/src/main/c++/run.sh
public/VectorPairHMM/src/main/c++/shift_template.c
public/VectorPairHMM/src/main/c++/utils.cc
public/VectorPairHMM/src/main/c++/utils.h
public/VectorPairHMM/src/main/c++/vector_function_prototypes.h
-- throws UserException; added tests in PosteriorLikelihoodsUtilsUnitTests
Add error handling to CalculateGenotypePosteriors for cases where MLEAC>AN; add tests in PosteriorLikelihoodsUtilsUnitTests
Add unit tests to confirm that CalculateGenotypePosteriors has the ability to switch genotypes for four cases
C++ code has PAPI calls for reading hardware counters
Followed Khalid's suggestion for packing libVectorLoglessCaching into
the jar file with Maven
Native library part of git repo
1. Renamed directory structure from public/c++/VectorPairHMM to
public/VectorPairHMM/src/main/c++ as per Khalid's suggestion
2. Use java.home in public/VectorPairHMM/pom.xml to pass environment
variable JRE_HOME to the make process. This is needed because the
Makefile needs to compile JNI code with the flag -I<JRE_HOME>/../include (among
others). Assuming that the Maven build process uses a JDK (and not just
a JRE), the variable java.home points to the JRE inside maven.
3. Dropped all pretense at cross-platform compatibility. Removed Mac
profile from pom.xml for VectorPairHMM
Moved JNI_README
1. Added the catch UnsatisfiedLinkError exception in
PairHMMLikelihoodCalculationEngine.java to fall back to LOGLESS_CACHING
in case the native library could not be loaded. Made
VECTOR_LOGLESS_CACHING as the default implementation.
2. Updated the README with Mauricio's comments
3. baseline.cc is used within the library - if the machine supports
neither AVX nor SSE4.1, the native library falls back to un-vectorized
C++ in baseline.cc.
4. pairhmm-1-base.cc: This is not part of the library, but is being
heavily used for debugging/profiling. Can I request that we keep it
there for now? In the next release, we can delete it from the
repository.
5. I agree with Mauricio about the ifdefs. I am sure you already know,
but just to reassure you the debug code is not compiled into the library
(because of the ifdefs) and will not affect performance.
1. Changed logger.info to logger.warn in PairHMMLikelihoodCalculationEngine.java
2. Committing the right set of files after rebase
Added public license text to all C++ files
Added license to Makefile
Add package info to Sandbox.java
Changes:
1. Addressed review comments on new K-best haplotype assembly graph finder.
2. Generalize KBestHaplotypeFinder to deal with multiple source and sink vertices.
3. Updated test to use KBestHaplotypeFinder instead of KBestPaths
4. Retired KBestPaths to the archive.
5. Small improvements to the code and documentation.
Story:
https://www.pivotaltracker.com/story/show/66238286
Changes:
1. Created a new k-best haplotype search implementation in class KBestHaplotypeFinder.
2. Changed HC code to use the new implementation.
This seems to fix the original problem without causing significant changes in outputs using some empirical data test cases
3. Moved haplotype's cigar calculation code from Path to CigarUtils; need that in order to gain independence from Path in some parts of the code.
In any case that seems like a more natural location for that functionality.
The purpose of this is to be able to call SNPs that fall at the beginning of a capture region (or exon).
Before, the read threading code would only start threading from the first kmer that matched the reference. But
that means that, in the case of a SNP at the beginning of an exome, it wouldn't start threading the read until
after the SNP position - so we'd lose the SNP.
For now, this is still very experimental. It works well for RNAseq data, but does introduce FPs in normal exomes.
I know why this is and how to fix it, but it requires a much larger fix to the HC: the HC needs to pass all reads
and bases to the annotation engine (like UG does) instead of just the high quality ones. So for now, the head
merging is disabled by default.
As per reviewer comments, I moved the head and tail merging code out into their own class.
We use a "manager" to keep track of observed splits and previous reads. This can be extended/modified in the
future to try to salvage those overhangs instead of hard-clipping them and/or try other possible strategies.
Added unit tests and more integration tests.
The GATK now fails with a user error if you try to run with a reduced bam.
(I added a unit test for that; everything else here is just the removal of all traces of RR)
PairHMMLikelihoodCalculationEngine.java to fall back to LOGLESS_CACHING
in case the native library could not be loaded. Made
VECTOR_LOGLESS_CACHING as the default implementation.
2. Updated the README with Mauricio's comments
3. baseline.cc is used within the library - if the machine supports
neither AVX nor SSE4.1, the native library falls back to un-vectorized
C++ in baseline.cc.
4. pairhmm-1-base.cc: This is not part of the library, but is being
heavily used for debugging/profiling. Can I request that we keep it
there for now? In the next release, we can delete it from the
repository.
5. I agree with Mauricio about the ifdefs. I am sure you already know,
but just to reassure you the debug code is not compiled into the library
(because of the ifdefs) and will not affect performance.
Re-added import java.io.File for BamGatherFunction.
Other cleanup to resolve scala syntax warnings from intellij.
Moved Example UG script to from protected to public.
This commit consists of 2 main changes:
1. When the strand table gets too large, we normalize it down to values that are more reasonable.
2. We don't include a particular sample's contribution unless the total ref and alt counts are at least 2 each;
this is a heuristic method for dealing only with hets.
MD5s change as expected.
Hopefully we'll have a more robust implementation for GATK 3.1.
The slicePrefix method functionality was broken.
Story:
https://www.pivotaltracker.com/story/show/64595624
Changes:
1. Fixed the bug.
2. Added unit test to check on the method functionality.
3. Added a integration test to verify the bug has been fixed in a empirical data reprudible case.
Story:
https://www.pivotaltracker.com/s/projects/1007536
Changes:
1. HC's GenotypingEngine now invokes reverseAlleleTrimming on GVCF variant output lines.
2. GenotypeGVCFs also reverse trim after regenotyping as some alt. alleles are dropped (observed in real-data).
The writer was never resetting the pointer to the end of the last non-ref VariantContext that it saw.
This was fine except when it jumped to a new contig - and a lower position on that contig - where it
thought that it was still part of that previous non-ref VariantContext so wouldn't emit a reference
block. Therefore, ref blocks were missing from the beginnings of all chromosomes (except chr1).
Added unit test to cover this case.
Bug uncovered by some untrimmed alleles in the single sample pipeline output.
Notice however does not fix the untrimmed alleles in general.
Story:
https://www.pivotaltracker.com/story/show/65481104
Changes:
1. Fixed the bug itself.
2. Fixed non-working tests (sliently skipped due to exception in dataProvider).
Note that this tool is still a work in progress and very experimental, so isn't 100% stable. Most of
the features are untested (both by people and by unit/integration tests) because Chris Hartl implemented
it right before he left, and we're going to need to add tests at some point soon. I added a first
integration test in this commit, but it's just a start.
The fixes include:
1. Stop having the genotyping code strip out AD values. It doesn't make sense that it should do this so
I don't know why it was doing that at all.
Updated GenotypeGVCFs so that it doesn't need to manually recover them anymore.
This also helps CalculateGenotypePosteriors which was losing the AD values.
Updated code in LeftAlignAndTrimVariants to strip out PLs and AD, since it wasn't doing that before.
Updated the integration test for that walker to include such data.
2. Chris was calling Math.pow directly on the normalized posteriors which isn't safe.
Instead, the normalization routine itself can revert back to log scale in a safe manner so let's use it.
Also, renamed the variable to posteriorProbabilities (and not likelihoods).
3. Have CGP update the AC/AF/AN counts after fixing GTs.
After extensive detective work, Joel determined that these tests were failing
due to changes in the implementation of Math.pow() in newer versions of
Java 1.7.
All GSA members should ensure that they're using a JDK that is at least
as current as the one in the Java-1.7 dotkit on the Broad servers
(build 1.7.0_51-b13).
1. updated QualByDepth not to use AD-restricted depth if it is zero.
Added unit test this change.
2. Fixed small bug in CombineGVCFs where spanning deletions were not being treated consistently throughout.
Added test for this situation.
3. Make sure GenotypeGVCFs puts in the required headers.
Updated test files to make sure this is covered.
4. Have GenotypeGVCFs propagate up the MLEAC/AF (which were getting clobbered out).
Tests updated to account for this.
when the AD annotation is present for a given genotype then we only use its depth for QD if the variant depth > 1.
Added new unit tests for QualByDepth.
Creating new VariantContexts each time we broke up a block was very expensive because we break up
blocks so often. Also, calling into GATKVariantContextUtils.simpleMerge was really hurting performance.
MD5 changes because we no longer propogate any INFO fields (except for END) for reference blocks; the tests
have the now unused BLOCK_SIZE field that now get dropped.
Story:
https://www.pivotaltracker.com/story/show/65388246
Additional changes and notes:
1. The fix consist in forcing the output of all PLs by setting the standard flag for that '-allSitePLs'.
2. BP_RESOLUTION was handled differently to GVCF in some aspect that should be common. That has been fixed.
The library is compiled using makefile and copied into the directory:
build/java/classes/org/broadinstitute/sting/utils/pairhmm/
2. Bundled the library into StingUtils.jar. Unpacked and loaded at
runtime without the need to set java.library.path
Caveats:
Platform independence has probably been thrown out of the window.
Assumptions:
a. make command exists at /usr/bin/make
b. rsync command exists at /usr/bin/rsync
c. icc is in the PATH of the user
1. AD values now propogate up (they weren't before).
2. MIN_DP gets transferred over to DP and removed.
3. SB gets removed after FS is calculated.
Also, added a bunch of new integration tests for GenotypeGVCFs.
AC,AF,AN,FS,QD - they'll all be recomputed later.
BLOCK_SIZE and MIN_GQ were not necessary.
I also made the StrandBiasBySample annotation forced on when in gVCF mode.
It turns out that its output wasn't compatible with BCF so I patched it (and the variant jar too).
This tool will take any number of gVCFs and create a merged gVCF (as opposed to
GenotypeGVCFs which produces a standard VCF).
Added unit/integration tests and fixed up GATK docs.
New properties to disable regenerating example resources artifact when each parallel test runs under packagetest.
Moved collection of packagetest parameters from shell scripts into maven profiles.
Fixed necessity of test-utils jar by removing incorrect dependenciesToScan element during packagetests.
When building picard libraries, run clean first.
Fixed tools jar dependency in picard pom.
Integration tests properly use the ant-bridge.sh test.debug.port variable, like unit tests.
Story:
https://www.pivotaltracker.com/story/show/65048706https://www.pivotaltracker.com/story/show/65116908
Changes:
ActiveRegionTrimmer in now an argument collection and it returns not only the trimmed down active region but also the non-variant containing flanking regions
HaplotypeCaller code has been simplified significantly pushing some functionality two other classes like ActiveRegion and AssemblyResultSet.
Fixed a problem with the way the trimming was done causing some gVCF non-variant records no have conservative 0,0,0 PLs
1. Throw a user error when the input data for a given genotype does not contain PLs.
2. Add VCF header line for --dbsnp input
3. Need to check that the UG result is not null
4. Don't error out at positions with no gVCFs (which is possible when using a dbSNP rod)
Joel is working on these failures in a separate branch. Since
maven (currently! we're working on this..) won't run the whole
test suite to completion if there's a failure early on, we need
to temporarily disable these tests in order to allow group members
to run tests on their branches again.
Here are the git moved directories in case other files need to be moved during a merge:
git-mv private/java/src/ private/gatk-private/src/main/java/
git-mv private/R/scripts/ private/gatk-private/src/main/resources/
git-mv private/java/test/ private/gatk-private/src/test/java/
git-mv private/testdata/ private/gatk-private/src/test/resources/
git-mv private/scala/qscript/ private/queue-private/src/main/qscripts/
git-mv private/scala/src/ private/queue-private/src/main/scala/
git-mv protected/java/src/ protected/gatk-protected/src/main/java/
git-mv protected/java/test/ protected/gatk-protected/src/test/java/
git-mv public/java/src/ public/gatk-framework/src/main/java/
git-mv public/java/test/ public/gatk-framework/src/test/java/
git-mv public/testdata/ public/gatk-framework/src/test/resources/
git-mv public/scala/qscript/ public/queue-framework/src/main/qscripts/
git-mv public/scala/src/ public/queue-framework/src/main/scala/
git-mv public/scala/test/ public/queue-framework/src/test/scala/
Changes:
-------
<NON_REF> likelihood in variant sites is calculated as the maximum possible likelihood for an unseen alternative allele: for reach read is calculated as the second best likelihood amongst the reported alleles.
When –ERC gVCF, stand_conf_emit and stand_conf_call are forcefully set to 0. Also dontGenotype is set to false for consistency sake.
Integration test MD5 have been changed accordingly.
Additional fix:
--------------
Specially after adding the <NON_REF> allele, but also happened without that, QUAL values tend to go to 0 (very large integer number in log 10) due to underflow when combining GLs (GenotypingEngine.combineGLs). To fix that combineGLs has been substituted by combineGLsPrecise that uses the log-sum-exp trick.
In just a few cases this change results in genotype changes in integration tests but after double-checking using unit-test and difference between combineGLs and combineGLsPrecise in the affected integration test, the previous GT calls were either border-line cases and or due to the underflow.
2. Split into DebugJNILoglessPairHMM and VectorLoglessPairHMM with base
class JNILoglessPairHMM. DebugJNILoglessPairHMM can, in principle,
invoke any other child class of JNILoglessPairHMM.
3. Added more profiling code for Java parts of LoglessPairHMM
Problem:
matchToMatch transition calculation was wrong resulting in transition probabilites coming out of the Match state that added more than 1.
Reports:
https://www.pivotaltracker.com/s/projects/793457/stories/62471780https://www.pivotaltracker.com/s/projects/793457/stories/61082450
Changes:
The transition matrix update code has been moved to a common place in PairHMMModel to dry out its multiple copies.
MatchToMatch transtion calculation has been fixed and implemented in PairHMMModel.
Affected integration test md5 have been updated, there were no differences in GT fields and example differences always implied
small changes in likelihoods that is what is expected.
2. Wrapped _mm_empty() with ifdef SIMD_TYPE_SSE
3. OpenMP disabled
4. Added code for initializing PairHMM's data inside initializePairHMM -
not used yet
SSE compilation warning.
2. Added code to dynamically select between AVX, SSE4.2 and normal C++ (in
that order)
3. Created multiple files to compile with different compilation flags:
avx_function_prototypes.cc is compiled with -xAVX while
sse_function_instantiations.cc is compiled with -xSSE4.2 flag.
4. Added jniClose() and support in Java (HaplotypeCaller,
PairHMMLikelihoodCalculationEngine) to call this function at the end of
the program.
5. Removed debug code, kept assertions and profiling in C++
6. Disabled OpenMP for now.
In unifying the arguments it was clear that the values were inconsistent throughout the code, so now there's a
single value that is intended to be more liberal in what it allows in (in an attempt to increase sensitivity).
Very little code actually changes here, but just about every md5 in the HC integration tests are different (as
expected). Added another integration test for the new argument.
To be used by David R to test his per-branch QC framework: does this commit make the HC look better against the KB?
1. Moved computeLikelihoods from PairHMM to native implementation
2. Disabled debug - debug code still left (hopefully, not part of
bytecode)
3. Added directory PairHMM_JNI in the root which holds the C++
library that contains the PairHMM AVX implementation. See
PairHMM_JNI/JNI_README first
It didn't completely work before (it was hard-coded for a particular long-lost data set) but it should work now.
Since I thought that it might prove useful to others, I moved it to protected and added integration tests.
GERALDINE: NEW TOOL ALERT!
The code comments very clearly state that INFO fields shouldn't be propagated into the output,
but someone must have accidentally changed it afterwards. This is just a simple one-line fix
to make sure the code adhered to the comments.
Delivers #63333488.
-Added docs for ERC mode in HC
-Move RecalibrationPerformance walker since to private since it is experimental and unsupported
-Updated VR docs and restored percentBad/numBad (but @Hidden) to enable deprecation alert if users try to use them
-Improved error msg for conflict between per-interval aggregation and -nt
-Minor clean up in exception docs
-Added Toy Walkers category for devs and dev supercat (to build out docs for developers)
-Added more detailed info to GenotypeConcordance doc based on Chris forum post
-Added system to include min/max argument values in gatkdocs (build gatkdocs with 'ant gatkdocs' to test it, see engine and DoC args for in situ examples)
-Added tentative min/max argument annotations to DepthOfCoverage and CommandLineGATK arguments (and improved docs while at it)
-Added gotoDev annotation to GATKDocumentedFeature to track who is the go-to person in GSA for questions & issues about specific walkers/tools (now discreetly indicated in each gatkdoc)
It is true that indels of length > 1 have higher QUALS than those of length = 1. But for the HC those
QUALS are not that much higher, and it doesn't continue scaling up as the indels get larger. So we no
longer normalize by indel length (which massively over-penalizes larger events and effectively drops their
QD to 0).
For the UG the previous normalization also wasn't perfect. Now we divide the indel length by a factor
of 3 to make sure that QD is consistent over the range of indel lengths.
Integration tests change because QD is different for indels.
Also, got permission from Valentin to archive a failing test that no longer applies.
Thanks to Kurt on the GATK forum for pointing this all out.
To do this I have added a RodBindingCollection which can represent either a VCF or a
file of VCFs. Note that e.g. SelectVariants allows a list of RodBindingCollections so
that one can intermix VCFs and VCF lists.
For VariantContext tags with a list, by default the tags for the -V argument are applied
unless overridden by the individual line. In other words, any given line can have either
one token (the file path) or two tokens (the new tags and the file path). For example:
foo.vcf
VCF,name=bar bar.vcf
Note that a VCF list file name must end with '.list'.
Added this functionality to CombineVariants, CombineReferenceCalculationVariants, and VariantRecalibrator.
-- New -a argument in the VQSR for specifying additional data to be used in the clustering
-- New NA12878KB walker which creates ROC curves by partitioning the data along VQSLOD and calculating how many KB TP/FP's are called.
For example, this tool can be used for processing bowtie RNA-seq data.
Each read with k N-cigar elemments is plit to k+1 reads. The split is done by hard clipping the bases rest of the bases.
In order to do it, few changes were introduced to some other clipping methods:
- make a segnificant change in ClippingOp.hardClip() that prevent the spliting of read with cigar: 1M2I1N1M3I.
- change getReadCoordinateForReferenceCoordinate in ReadUtil to recognize Ns
create unitTests for that walker:
- change ReadClipperTestUtils to be more general in order to use its code and avoid code duplication
- move some useful methods from ReadClipperTestUtils to CigarUtils
create integration test for that class
small change in a comment in FullProcessingPipeline
last commit:
Address review comments:
- move to protected under walkers/rnaseq
- change the read splitting methods to be more readable and more efficiant
- change (minor changes) some methods in ReadClipper to allow the changes in split reads
- add (minor change) one method to CigarUtils to allow the changes in split reads
- change ReadUtils.getReadCoordinateForReferenceCoordinate to include possible N in the cigar
- address the rest of the review comments (minor changes)
- fix ReadUtilsUnitTest.testReadWithNs acoording to the defult behaviour of getReadCoordinateForReferenceCoordinate (in case of refernce index that fall into deletion, return the read index of the base before the deletion).
- add another test to ReadUtilsUnitTest.testReadWithNs
- Allow the user to print the split positions (not working proparly currently)
Ryan Poplin
Laura Gauthier
David Roazen
Eric Banks
Phillip Dexheimer
Khalid Shakir
Valentin Ruano Rubio
EvolvedMicrobe
Nigel Delaney
Karthik Gururaj
MauricioCarneiro
Ami Levy-Moonshine
Kristian Cibulskis
Joel Thibault
Alec Wysoker
Bertrand Haas
Geraldine Van der Auwera
Menachem Fromer