Commit Graph

408 Commits (6a903f2c235fd48dd02aa9f1982da9e980046c2e)

Author SHA1 Message Date
Eric Banks 6a903f2c23 I finally gave up on trying to get the Haplotype/Allele merging to work in the HaplotypeCaller.
I've resigned myself instead to create a mapping from Allele to Haplotype.  It's cheap so not a big deal, but really shouldn't be necessary.
Ryan and I are talking about refactoring for GATK2.5.
2013-01-18 01:21:08 -05:00
Eric Banks 6db3e473af Better error message for bad qual 2013-01-17 10:30:04 -05:00
Eric Banks 953592421b I think we got out of sync with the HC tests as we were clobbering each other's changes. Only differences here are to some RankSumTest values. 2013-01-17 09:19:21 -05:00
Eric Banks ded659232b Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-16 22:49:56 -05:00
Eric Banks a623cca89a Bug fix for HaplotypeCaller, as reported on the forum: when reduced reads didn't completely overlap a deletion call,
we were incorrectly trying to find the reference position of a base on the read that didn't exist.
Added integration test to cover this case.
2013-01-16 22:47:58 -05:00
Eric Banks dbb69a1e10 Need to use ints for quals in HaplotypeScore instead of bytes because of overflow (they are summed when haplotypes are combined) 2013-01-16 22:33:16 -05:00
Mark DePristo 3c476a92a2 Add dummy functionality (currently throws an error) to allow HC to include unmapped reads during assembly and calling 2013-01-16 16:25:36 -05:00
Eric Banks 4cf34ee9da Bug fix to FisherStrand: do not let it output INFINITY. This all needs to be unit tested, but that's coming on the horizon. 2013-01-16 15:35:04 -05:00
Mark DePristo 2a42b47e4a Massive expansion of ActiveRegionTraversal unit tests, resulting in several bugfixes to ART
-- UnitTests now include combinational tiling of reads within and spanning shard boundaries
-- ART now properly handles shard transitions, and does so efficiently without requiring hash sets or other collections of reads
-- Updating HC and CountReadsInActiveRegions integration tests
2013-01-16 15:30:00 -05:00
Eric Banks e47a389b26 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-16 14:59:11 -05:00
Eric Banks d18dbcbac1 Added tests for changing IUPAC bases to Ns, for failing on bad ref bases, and for the HaplotypeCaller not failing when running over a region with an IUPAC base.
Out of curiosity, why does Picard's IndexedFastaSequenceFile allow one to query for start position 0?  When doing so, that base is a line feed (-1 offset to the first base in the contig) which is an illegal base (and which caused me no end of trouble)...
2013-01-16 14:55:33 -05:00
Khalid Shakir 4ffb43079f Re-committing the following changes from Dec 18:
Refactored interval specific arguments out of GATKArgumentCollection into InvtervalArgumentCollection such that it can be used in other CommandLinePrograms.
Updated SelectHeaders to print out full interval arguments.
Added RemoteFile.createUrl(Date expiration) to enable creation of presigned URLs for download over http: or file:.
2013-01-16 12:43:15 -05:00
Eric Banks 445735a4a5 There was no reason to be sharing the Haplotype infrastructure between the HaplotypeCaller and the HaplotypeScore annotation since they were really looking for different things.
Separated them out, adding efficiencies for the HaplotypeScore version.
2013-01-16 11:10:13 -05:00
Eric Banks 392b5cbcdf The CachingIndexedFastaSequenceFile now automatically converts IUPAC bases to Ns and errors out on other non-standard bases.
This way walkers won't see anything except the standard bases plus Ns in the reference.
Added option to turn off this feature (to maintain backwards compatibility).

As part of this commit I cleaned up the BaseUtils code by adding a Base enum and removing all of the static indexes for
each of the bases.  This uncovered a bug in the way the DepthOfCoverage walker counts deletions (it was counting Ns instead!) that isn't covered by tests.  Fortunately that walker is being deprecated soon...
2013-01-16 10:22:43 -05:00
Eric Banks 4fb3e48099 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-16 00:13:38 -05:00
Eric Banks 0d282a7750 Bam writing from HaplotypeCaller seems to be working on all my test cases. Note that it's a hidden debugging option for now.
Please let me know if you notice any bad behavior with it.
2013-01-16 00:12:02 -05:00
Eric Banks d3baa4b8ca Have Haplotype extend the Allele class.
This way, we don't need to create a new Allele for every read/Haplotype pair to be placed in the PerReadAlleleLikelihoodMap (very inefficient).  Also, now we can easily get the Haplotype associated with the best allele for a given read.
2013-01-15 11:36:20 -05:00
Mark DePristo 3c37ea014b Retire original TraverseActiveRegion, leaving only the new optimized version
-- Required some updates to MD5s, which was unexpected, and will be sorted out later with more detailed unit tests
2013-01-15 10:24:45 -05:00
Eric Banks 94800771e3 1. Initial implementation of bam writing for the HaplotypeCaller with -bam argument; currently only assembled haplotypes are emitted.
2. Framework is set up in the VariantAnnotator for the HaplotypeCaller to be able to call in to annotate dbSNP plus comp RODs.  Until the HC uses meta data though, this won't work.
2013-01-15 10:19:18 -05:00
Chris Hartl 682c59ff04 Merge branch 'master' of gsa2:/humgen/gsa-scr1/chartl/dev/unstable 2013-01-14 13:27:34 -05:00
Chris Hartl 61bc334df1 Ensure output table formatting does not contain NaNs. For (0 eval ref calls)/(0 comp ref calls), set the proportion to 0.00.
Added integration tests (checked against manual tabulation)
2013-01-14 09:21:30 -05:00
Ryan Poplin a7fe334a3f calculating the md5s for the new tests. 2013-01-11 15:43:52 -05:00
Ryan Poplin 65afec2a53 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-11 15:22:52 -05:00
Mark DePristo 85b529cced Updating MD5s in HC and UG that changed due to new LIBS
-- Resolved what was clearly a bug in UG (GGA mode was returning a neighboring, equivalent indel site that wasn't in input list.  Not ideal)
-- Trivial read count differences in HC
2013-01-11 15:17:19 -05:00
Mark DePristo 8b83f4d6c7 Near final cleanup of PileupElement
-- All functions documented and unit tested
-- New constructor interface
-- Cleanup some uses of old / removed functionality
2013-01-11 15:17:17 -05:00
Mark DePristo fb9eb3d4ee PileupElement and LIBS cleanup
-- function to create pileup elements in AlignmentStateMachine and LIBS
-- Cleanup pileup element constructors, directing users to LIBS.createPileupFromRead() that really does the right thing
2013-01-11 15:17:17 -05:00
Mark DePristo cc1d259cac Implement get Length and Bases of OfImmediatelyFollowingIndel in PileupElement
-- Added unit tests for this behavior.  Updated users of this code
2013-01-11 15:17:17 -05:00
Mark DePristo 2c38310868 Create LIBS using new AlignmentStateMachine infrastructure
-- Optimizations to AlignmentStateMachine
-- Properly count deletions.  Added unit test for counting routines
-- AlignmentStateMachine.java is no longer recursive
-- Traversals now use new LIBS, not the old one
2013-01-11 15:17:17 -05:00
Mark DePristo b53286cc3c HaplotypeCaller mode to skip assembly and genotyping for performance testing
-- Added HCPerformance evaluation Qscript
-- Added some docs about one of the HC integration tests
-- HaplotypeCaller / ART performance evaluation script
2013-01-11 15:17:16 -05:00
Ryan Poplin e952296c10 Adding HC GGA integration test to cover duplicated input alleles. 2013-01-11 15:01:27 -05:00
Ryan Poplin 7f7f40f851 Adding additional HC GGA integration tests to cover more complicated input alleles. 2013-01-11 14:36:21 -05:00
Eric Banks 85baf71b39 Merged bug fix from Stable into Unstable 2013-01-11 11:05:27 -05:00
Eric Banks d78539774f Another RR bug: off by one error led to ArrayIndexOutOfBoundsException when working with multiple samples and the variant region ended 1 base after the end of the last read for a given sample. 2013-01-11 11:05:09 -05:00
Eric Banks 79b93f659c Merged bug fix from Stable into Unstable 2013-01-11 09:20:13 -05:00
Eric Banks 67fafbb625 Forgot an include 2013-01-11 09:19:46 -05:00
Eric Banks 6bf0cc32f9 When reducing multiple samples it is possible to try to close a region that for a given sample has no reads. Currently we'd NPE. Fixed. 2013-01-11 09:16:19 -05:00
Eric Banks e7906713d9 Moving some random walkers back to public as requested by Mark. Mauricio will the licenses get updated automatically? 2013-01-11 02:03:43 -05:00
Eric Banks 3a51823c2a Clean up imports 2013-01-10 23:35:01 -05:00
Eric Banks e4b7b1955c Forgot to add the note about length normalization to the QD docs 2013-01-10 23:34:06 -05:00
Eric Banks ff5ac986d8 Fix docs for QD 2013-01-10 23:31:46 -05:00
Mauricio Carneiro 2a4ccfe6fd Updated all JAVA file licenses accordingly
GSATDG-5
2013-01-10 17:06:41 -05:00
Mauricio Carneiro dd177b1714 Removing fully commented out varianteval evaluators
- Files were completely commmented out, and were screwing up my license script. Dont like them. Removed them.

GSATDG-5
2013-01-10 17:06:12 -05:00
Chris Hartl 80dec72c53 Merge branch 'master' of gsa2:/humgen/gsa-scr1/chartl/dev/unstable 2013-01-10 14:35:59 -05:00
Chris Hartl 31a5f88c4f Expanded unit tests to cover the Concordance Metrics class fairly uniformly. 2013-01-10 14:33:47 -05:00
Ryan Poplin 1a18947abf Adding new command line argument requested on the forum to control the maximum number of haplotypes that are sent forward for genotyping. In the presence of a large degree of heterozygosity the current algorithm breaks down and so this argument would need to be increased. 2013-01-09 15:54:02 -05:00
Ryan Poplin 487fb2afb4 Bug fix for the case of overlapping assembled and partially-assembled events created by the HC. Unfortunately the symbolic allele can't be combined with the indel allele because the reference basis will change. 2013-01-09 15:30:46 -05:00
Chris Hartl 6787f86803 Eliminate the import of DiploidGenotype, which switched public/private underneath me but for some reason didn't stop me from compiling... 2013-01-09 13:23:24 -05:00
Chris Hartl c1de92b511 Add in some todo items 2013-01-09 13:16:06 -05:00
Chris Hartl 8d126161e2 Merge branch 'master' of gsa2:/humgen/gsa-scr1/chartl/dev/unstable 2013-01-09 13:15:04 -05:00
Eric Banks 3a0dd4b175 Oops, I broke the build. NOW we shouldn't have any more public->protected dependancies. 2013-01-09 11:12:28 -05:00