Same changes fixed the problem for GenotypeGVCFs and CombineGVCFs.
Stories:
- https://www.pivotaltracker.com/story/show/77626044
- https://www.pivotaltracker.com/story/show/77626854
Changes:
- Generalized the code for the merging in GATKVariantContextUtils to cope
with ploidy != 2.
- GenotypeGVCFs now check that the input's ploidy conform to the '-ploidy'
argument.
- Moved out Refernce Confidence VC merging code from GATKVariantContextUtils
so that we can keep new code in protected.
Caveats:
- GenotypeGVCFs only can deal with input files that have the same ploidy in
all positions; the one that the user MUST indicate in the -ploidy argument
(if different to the default 2).
- CombineGVCFs won't necessarely complain if its passed mixed ploidy
inputs but you won't be able to genotype it with GenotypeGVCFs.
Test:
- Removed deprecated unit tests for GATKVariantContextUtils.
- Moved unit-tests regarding GVCF merging from GATKVariantContextUtilsUnitTest
to ReferenceConfidenceVariantContextUtilsUnitTest.
- Added unit test for new code for mapping genotype indices between allele
index encoding in GenotypeLikelihoodCalculator.
- GenotypeGVCFs and CombineGVCFs original integration test are unaffected
by the change.
- Added tetraploid run integration tests to check on non-diploid execution
of GenotypeGVCFs and CombineGVCFs.
Changed tests and scripts to use gatkdir full path instead of relative testdata/qscripts symbolic links.
Although symlinks not created, left the symlink deletion script execution with a comment about future removal.
Re-enabled example UG pipeline queue test.
Replaced all hardcoded strings of {public,private}/testdata with BaseTest variables.
Refactored temp list creation method from ListFileUtilsUnitTest to BaseTest.createTempListFile.
Removed list files with hardcoded paths, now using createTempListFile instead with private test dir variable.
We do this for technical reasons, mostly because we don't genotype in the HC anymore; it's all
done downstream by GenotypeGVCFs so we can't be sure that the genotype will be hom var. Also,
there are steps in the downstream pipeline where genotypes can change, so assuming anything in
the HC is a bad idea, and if we have phasing info in the het state, we want to propagate that forward.
Now, PGT tag fixing happens downstream in GenotypeGVCFs.
While I was in there I also cleaned up the code a bit and fixed a bug where annotation was happening
before genotype creation when using the --includeNonVariantSites argument.
Added tests accordingly.
* This is a shortcut for people who have multi-sample BAMs but would like to use GVCF mode. Rather than creating single-sample BAMs with PrintReads, one could use the --sample_name argument to HaplotypeCaller to specify the single sample to make calls on
* Completes PT 73075482
Story:
https://www.pivotaltracker.com/story/show/77250524
Changes:
- Remove the annotating code in GeneralPloidyExactAFCalc (GPEAFC) class.
- Added the asAlleleList to GenotypeAlleleCounts class and get (GPEAFC) to use that instead of implementing its own (nicer and more reusable code).
- Removed the explicit addition of AlleleCountBySample fields to the VCF header by the walker initialize
- Added utility methods in Utils to wrap and int[] array into a List<Integer>, and double[] array into a List<Double> efficiently.
Test:
- Added unit-testing for asAlleleList in GenotypeAlleleCountsUnitTest (within testFirst and testNext).
- Added unit-testing for new methods in Utils : asList(int[]) and asList(double[])
- Changed UG General Ploidy test to add explicitly those annotations.
- Non-trivial changes in integration tests involving non-diploid runs (namelly haploid and tetraploid) as they are not showing
those annotations anylonger, so the MD5s have been changed accordingly.
It turns out that there can be some really complex situations even with a single sample where
there are lots of unphasable hets around a hom. Previously we were trying to phase each of the
hets against the hom, but that wasn't correct. Instead we now detect that situation and don't
attempt to phase anything.
Added a unit test to cover this situation.
New annotation for low= and high-confidence de novos (only annotates biallelics)
FamilyLikelihoodsUtils now add joint likelihood and joint posterior annotations
Restrict population priors based on discovered allele count to be valid for 10 or more samples.
VariantAnnotator/FS behavior changes slightly: VA used to output zeros for FS if there was no strand bias info, now skips FS output (but will still show FS in header)
Changes in several walker to use new sample, allele closed lists and new GenotypingEngine constructors signatures
Rebase adoption of new calculation system in walkers
1. It is now turned on by default
2. It now phases homozygous variants
3. Most importantly, it also phases variants that are always on opposite haplotypes
Changed the INFO keys to be PID and PGT, as described in the header.
If any pair of variants occurs on all used haplotypes together, then we propagate that information into the gVCF.
Can be enabled with the --tryPhysicalPhasing argument.
Stories:
https://www.pivotaltracker.com/story/show/70222086https://www.pivotaltracker.com/story/show/67961652
Changes:
Done some changes that I missed in relation with making sure that all PairHMM implentations use the same interface; as a consequence we were running always the standard PairHMM.
Fixed some additional bugs detected when running it on full wgs single sample and exom multi sample data set.
Updated some integration test md5s.
Stories:
https://www.pivotaltracker.com/story/show/70222086https://www.pivotaltracker.com/story/show/67961652
Changes:
Done some changes that I missed in relation with making sure that all PairHMM implentations use the same interface; as a consequence we were running always the standard PairHMM.
Fixed some additional bugs detected when running it on full wgs single sample and exom multi sample data set.
Updated some integration test md5s.
Fixing GraphBased bugs with new master code
Fixed ReadLikelihoods.changeReads difficult to spot bug.
Changed PairHMM interface to fix a bug
Fixed missing changes for various PairHMM implementations to get them to use the new structure.
Fixed various bugs only detectable when running with full sample(s).
Believe to have fixed the lack of annotations in UG runs
Fixed integrationt test MD5s
Updating some md5s
Fixed yet another md5 probably left out by mistake
The array structure should be faster to populate and query (no properly benchmarked) and reduce memory footprint considerably.
Nevertheless removing PairHMM factor (using likelihoodEngine Random) it only achieves a speed up of 15% in some example WGS dataset
i.e. there are other bigger bottle necks in the system. Bamboo tests also seem to run significantly faster with this change.
Stories:
https://www.pivotaltracker.com/story/show/70222086https://www.pivotaltracker.com/story/show/67961652
Changes:
- ReadLikelihoods added to substitute Map<String,PerSampleReadLikelihoods>
- Operation that involve changes in full sets of ReadLikelihoods have been moved into that class.
- Simplified a bit the code that handles the downsampling of reads based on contamination
Caveats:
- Still we keep Map<String,PerReadAlleleLikelihoodsMap> around to pass to annotators..., didn't feel like change the interface of so many public classes in this pull-request.
In particular, it was possible to specify arguments for Files or Compound types without values
Added a special "none" value for annotations, since a bare "-A" is no longer allowed
Delivers PT 71792842 and 59360374
Story:
https://www.pivotaltracker.com/story/show/73440292
Changes:
- Just add the conditional in HaplotypeCaller#initialize
Testing:
- Nothing added, checked locally, trivial change that would eventually be removed anyway.
droazen
Eric Banks
Menachem Fromer
Valentin Ruano Rubio
Khalid Shakir
Phillip Dexheimer
Laura Gauthier
Ryan Poplin
Tim Fennell