Commit Graph

16 Commits (6f12c8b0dc25bf6c45435efda41e65501b781376)

Author SHA1 Message Date
Eric Banks 300b474c96 Several improvements to the single sample combining steps.
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.
2014-02-12 10:15:12 -05:00
Eric Banks 303a60c8c6 Adding smarts to the QD annotation:
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.
2014-02-11 12:56:49 -05:00
Eric Banks 2e36dd9001 Refactoring of CombineGVCFs to make it run a lot faster.
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.
2014-02-11 03:18:52 -05:00
Eric Banks abef6cfcb6 Removing parameters that were incorrectly copied over from RegenotypeVariants. 2014-02-08 23:44:32 -05:00
Valentin Ruano-Rubio bf630abe88 Fixed nocall (./.) without PLs bug in GVCF output
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.
2014-02-07 19:30:26 -05:00
Eric Banks d689f61005 Fixed up some of the genotype-level annotations being propogated in the single sample HC pipeline.
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.
2014-02-07 12:47:54 -05:00
Eric Banks 67ed0d2403 The UG engine can return a null VC if there are tons of alt alleles, causing Tim's merge jobs to fail.
Pushing the null check up so that it doesn't error out in such cases.
2014-02-07 12:41:20 -05:00
Valentin Ruano-Rubio 4a3c8e68fa Fixed out of order non-variant gVCF entries when trimming is active.
Story:

https://www.pivotaltracker.com/story/show/65319564
2014-02-07 11:03:26 -05:00
Eric Banks eb463b505d Remove a whole bunch of unused annotations from gVCF output.
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).
2014-02-07 08:49:36 -05:00
Eric Banks 2648219c42 Implementation of a hierarchical merger for gVCFs, called CombineGVCFs.
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.
2014-02-07 08:49:18 -05:00
Eric Banks 71b47a6148 Rename CombineReferenceCalculationVariants to GenotypeGVCFs 2014-02-06 15:46:19 -05:00
Valentin Ruano Rubio 988e3b4890 Merge pull request #487 from broadinstitute/vrr_reference_model_with_trimming
Get gVCF to work without --dontTrimActiveRegions
2014-02-05 22:52:17 -05:00
Valentin Ruano-Rubio 98ffcf6833 Get gVCF to work without --dontTrimActiveRegions
Story:

https://www.pivotaltracker.com/story/show/65048706
https://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
2014-02-05 22:50:45 -05:00
Ryan Poplin 693bfac341 Bug fix for missing annotations in CombineReferenceCalculationVariants. They were being dropped in the handoff between engines in a couple of places.
-- Updated single sample pipeline test data using Valentin's files and re-enabled CRCV tests
2014-02-05 12:58:48 -05:00
Eric Banks 91bdf069d3 Some updates to CRCV.
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)
2014-02-05 10:12:37 -05:00
Khalid Shakir 1e25a758f5 Moved files to maven directories.
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/
2014-02-03 13:50:44 -05:00