Commit Graph

282 Commits (c3b7dd1374ece9cb8bffedd6518f5d6d9582eec0)

Author SHA1 Message Date
Ryan Poplin e48727dae3 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-09 10:31:10 -04:00
Guillermo del Angel 5be7e0621d Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-09 09:58:34 -04:00
Guillermo del Angel 71ee8d87b3 Rename per-sample ML allelic fractions and counts so that they don't have the same name as the per-site INFO fields, and clarify wording in VCF header 2012-08-09 09:58:20 -04:00
Mauricio Carneiro 250ffd2ad7 Merged bug fix from Stable into Unstable 2012-08-08 15:50:07 -04:00
Mauricio Carneiro 78c1556186 Fixing ReduceReads downsampling bug -- downsampled reads were not being excluded from the read window, causing them to trail back and get caught by the sliding window exception 2012-08-08 15:49:31 -04:00
Ryan Poplin 1223d77546 Removing argument from HaplotypeCaller that was made unneccesary by recent improvements to triggering around large events 2012-08-08 15:13:20 -04:00
Eric Banks 4b2e3cec0b Quick pass of FindBugs 'inefficient use of keySet iterator instead of entrySet iterator' fixes for core tools. 2012-08-08 14:29:41 -04:00
Guillermo del Angel 3e2752667c Intermediate checkin for ReducedReads with HaplotypeCaller - change min read count over k-mer to average count over k-mer when doing assembly of a reduced read (not optimal, currently trying max and then will decide on best approach), fix merge conflicts 2012-08-08 12:07:33 -04:00
Eric Banks 2c76f71a03 Update -maxAlleles argument in integration tests 2012-08-06 22:48:04 -04:00
Guillermo del Angel c66a896b8e Fix UG integration test broken by new -maxAltAlleles nomenclature 2012-08-06 21:29:21 -04:00
Guillermo del Angel 97c5ed4feb Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-06 20:22:31 -04:00
Guillermo del Angel 238d55cb61 Fixes for running HaplotypeCaller with reduced reads: a) minor refactoring, pulled out code to compute mean representative count to ReadUtils, b) Don't use min representative count over kmer when constructing de Bruijn graph - this creates many paths with multiplicity=1 and makes us lose a lot of SNP's at edge of capture targets. Use mean instead 2012-08-06 20:22:12 -04:00
Ryan Poplin d85b38e4da Updating HaplotypeCaller integration tests 2012-08-06 12:02:19 -04:00
Ryan Poplin b8709d8c67 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-06 11:41:28 -04:00
Ryan Poplin 973d1d47ed Merging together the computeDiploidHaplotypeLikelihoods functions in the HaplotypeCaller's LikelihoodEngine so they both benefit from the ReducedRead's RepresentativeCount 2012-08-06 11:40:07 -04:00
Ryan Poplin b7eec2fd0e Bug fixes related to the changes in allele padding. If a haplotype started with an insertion it led to array index out of bounds. Haplotype allele insert function is now very simple because all alleles are treated the same way. HaplotypeUnitTest now uses a variant context instead of creating Allele objects directly. 2012-08-05 12:29:10 -04:00
Guillermo del Angel d2e8eb7b23 Fixed 2 haplotype caller unit tests: a) new interface for addReadLikelihoods() including read counts, b) disable test that test basic DeBruijn graph assembly, not ready yet 2012-08-03 14:26:51 -04:00
Ryan Poplin c3b6e2b143 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-03 13:14:43 -04:00
Ryan Poplin ff80f17721 Using PathComparatorTotalScore in the assembly graph traversal does a better job of capturing low frequency branches that are inside high frequnecy haplotypes. 2012-08-03 13:14:37 -04:00
Guillermo del Angel 6f8e7692d4 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-03 12:24:37 -04:00
Guillermo del Angel 9e25b209e0 First pass of implementation of Reduced Reads with HaplotypeCaller. Main changes: a) Active region: scale PL's by representative count to determine whether region is active. b) Scale per-read, per-haplotype likelihoods by read representative counts. A read representative count is (temporarily) defined as the average representative count over all bases in read, TBD whether this is good enough to avoid biases in GL's. c) DeBruijn assembler inserts kmers N times in graph, where N is min representative count of read over kmer span - TBD again whether this is the best approach. d) Bug fixes in FragmentUtils: logic to merge fragments was wrong in cases where there is discrepancy of overlaps between unclipped/soft clipped bases. Didn't affect things before but RR makes prevalence of hard-clipped bases in CIGARs more prevalent so this was exposed. e) Cache read representative counts along with read likelihoods associated with a Haplotype. Code can/should be cleaned up and unified with PairHMMIndelErrorModelCode, as well as refactored to support arbitrary ploidy in HaplotypeCaller 2012-08-03 12:24:23 -04:00
Ryan Poplin 3ece4c4993 Merged bug fix from Stable into Unstable 2012-08-02 11:41:36 -04:00
Ryan Poplin cb8bc18aeb Fix for error in HaplotypeCaller. HC has a UG argument collection for the UG engine but some of those arguments aren't appropriate to set. 2012-08-02 11:41:06 -04:00
Guillermo del Angel 9ac72dbd4d Merged bug fix from Stable into Unstable 2012-08-01 10:56:45 -04:00
Guillermo del Angel 01265f78e6 Add sanity check and possible bug fix for forum user: if haplotypes cannot be created from given alleles when genotyping indels (e.g. too close to contig boundary, etc.) in pool mode, empty allele list, signifying site can't be genotyped 2012-08-01 10:50:00 -04:00
Guillermo del Angel 4a23f3cd11 Simple cleanup of pool caller code - since usage is much more general than just calling pools, AF calculation models and GL calculation models are renamed from Pool -> GeneralPloidy. Also, don't have users specify special arguments for -glm and -pnrm. Instead, when running UG with sample ploidy != 2, the correct general ploidy modules are automatically detected and loaded. -glm now reverts to old [SNP|INDEL|BOTH] usage 2012-07-31 16:34:20 -04:00
Mark DePristo e00ed8bc5e Cleanup BQSR classes
-- Moved most of BQSR classes (which are used throughout the codebase) to utils.recalibration.  It's better in my opinion to keep commonly used code in utils, and only specialized code in walkers.  As code becomes embedded throughout GATK its should be refactored to live in utils
-- Removed unncessary imports of BQSR in VQSR v3
-- Now ready to refactor QualQuantizer and unit test into a subclass of RecalDatum, refactor unit tests into RecalDatum unit tests, and generalize into hierarchical recal datum that can be used in QualQuantizer and the analysis of adaptive context covariate
-- Update PluginManager to sort the plugins and interfaces.  This allows us to have a deterministic order in which the plugin classes come back, which caused BQSR integration tests to temporarily change because I moved my classes around a bit.
2012-07-31 08:11:03 -04:00
Guillermo del Angel e6b326c189 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-30 21:32:19 -04:00
Guillermo del Angel 6c9d3ec155 Remerge after changes to allele construction code. More cleanups/fixes to artificial read pileup provider 2012-07-30 21:32:03 -04:00
Ryan Poplin 3dabb90eb0 Updating example active region walker integration test. 2012-07-30 21:26:16 -04:00
Ryan Poplin c2b57ee444 updating HC integration tests after these changes. 2012-07-30 12:41:40 -04:00
Ryan Poplin 13591b169f Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-30 12:13:24 -04:00
Ryan Poplin 48b9495460 Fixes to the likelihood based LD calculation for deciding when to combine consecutive events. 2012-07-30 12:12:56 -04:00
Ryan Poplin 9002758ede Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-30 12:10:00 -04:00
Ryan Poplin 7a73042cd3 Bug fix for the case of merging two VCs when a deletion deletes the padding base for a consecutive indel. Added unit test to cover this case. 2012-07-30 12:09:23 -04:00
Eric Banks 5743694196 Merged bug fix from Stable into Unstable 2012-07-30 11:35:28 -04:00
Eric Banks 79195b97a3 Adding categories for the remaining uncategorized walkers 2012-07-30 11:35:08 -04:00
Guillermo del Angel 5b9a1af7fe Intermediate fix for pool GL unit test: fix up artificial read pileup provider to give consistent data. b) Increase downsampling in pool integration tests with reference sample, and shorten MT tests so they don't last too long 2012-07-30 09:56:10 -04:00
Eric Banks 99b15b2b3a Final checkpoint: all tests pass. Note that there were bugs in the PoolGenotypeLikelihoodsUnitTest that needed fixing and eventually led to my needing to disable one of the tests (with a note for Guillermo to look into it). Also note that while I have moved over the GATK to use the new non-null representation of Alleles, I didn't remove all of the now-superfluous code throughout to do padding checking on merges; we'll need to do this on a subsequent push. 2012-07-29 01:07:59 -04:00
Eric Banks 2b1b00ade5 All integration tests and VC/Allele unit tests are passing 2012-07-27 17:03:49 -04:00
Eric Banks beb7610195 Resolving merge conflicts 2012-07-27 15:52:02 -04:00
Eric Banks 27e7e11ec0 Allele refactoring checkpoint #3: all integration tests except for PoolCaller are passing now. Fixed a couple of bugs from old code that popped up during md5 difference review. Added VariantContextUtils.requiresPaddingBase() method for tools that create alleles to use for determining whether or not to add the ref padding base. One of the HaplotypeCaller tests wasn't passing because of RankSumTest differences, so I added a TODO for Ryan to look into this. 2012-07-27 15:48:40 -04:00
Ryan Poplin 22bb4804f0 HaplotypeCaller now use an excessive number of high quality soft clips as a triggering signal in order to capture both end points of a large deletion in a single active region. 2012-07-27 12:44:02 -04:00
Ryan Poplin a0890126a8 ActiveRegionWalker's isActive function returns a results object now instead of just a double. 2012-07-27 11:01:39 -04:00
Eric Banks baf3e33730 Allele refactoring checkpoint 2: all code finally compiles, AD and STR annotations are fixed, and most of the UG integration tests pass. 2012-07-26 23:27:11 -04:00
Ryan Poplin 35e803e110 Merged bug fix from Stable into Unstable 2012-07-26 14:00:04 -04:00
Ryan Poplin 4f741b4cd7 Smoothing in the BQSR bins should be one error observation and one non-error observation. 2012-07-26 13:59:02 -04:00
Guillermo del Angel 2ae890155c Improvements to indel calling in pool caller: a) Compute per-read likelihoods in reference sample to determine wheter a read is informative or not. b) Fixed bugs in unit tests. c) Fixed padding-related bugs when computing matches/mismatches in ErrorModel, d) Added a couple of more integration tests to increase test coverage, including testing odd ploidy 2012-07-26 13:43:00 -04:00
Eric Banks a694d1b5de Merge branch 'master' into allelePadding 2012-07-26 01:53:14 -04:00
Eric Banks 32516a2f60 Initial checkpoint commit of VariantContext/Allele refactoring. There were just too many problems associated with the different representation of alleles in VCF (padded) vs. VariantContext (unpadded). We are moving VC to use the VCF representation. No more reference base for indels in VC and no more trimming and padding of alleles. Even reverse trimming has been stopped (the theory being that writers of VCF now know what they are doing and often want the reverse padding if they put it there; this has been requested on GetSatisfaction). Code compiles but presumably pretty much all tests with indels with fail at this point. 2012-07-26 01:50:39 -04:00
Eric Banks 7eb3f54750 Added category docs for the remaining public walkers (I think I got them all). I removed a couple of totally unnecessary walkers. 2012-07-25 21:40:28 -04:00
Eric Banks 0a98a6aa8d Adding extraDocs tag per Mauricio's request 2012-07-25 18:23:18 -04:00
Eric Banks 05fa377a8e Adding GATK categories to standard walkers. Will add to remaining walkers after the next successful release (so that I can see which walkers are public and still need it). 2012-07-25 16:05:47 -04:00
Eric Banks a5721a8846 Context covariate optimizations were not suited for multiple threads, so I removed them (since that ended up being much, much easier than trying to make the covariates thread local). Added -nt 2 layer to BQSR integration tests to confirm that it now works with multiple threads. 2012-07-25 13:38:07 -04:00
Eric Banks 675ccab2fa Renaming BQSR to BaseRecalibrator 2012-07-23 10:17:17 -04:00
Ryan Poplin 2e486d83e2 Updating HaplotypeCaller docs and expanding integration tests. 2012-07-23 10:05:42 -04:00
Mauricio Carneiro df965d4a5a Fixing BQSR integration test 2012-07-21 11:11:45 -04:00
Mauricio Carneiro 116885a450 Removed the "Walker" suffix from all walkers that had it.
* Did not touch archived walkers... those can be named whatever.
   * Kept abstract classes that end in Walker untouched (e.g. LocusWalker, ReadWalker, ...)
   * Renamed a few inner classes due to conflict when stripping off Walker from their outer classes: ContigStats, FlagStats and FastaStats.
2012-07-20 17:27:11 -04:00
Ryan Poplin 1592841c93 New function for merging nearby events into MNPs or complex substitutions. Added extensive unit tests. 2012-07-19 13:16:33 -04:00
Guillermo del Angel c16f9f2f15 a) Use new method to check for GATK Like, b) minor improvements to indel pool caller (more to come): brain-dead, quick way to limit number of alt alleles to genotype. We can't process too many alt alleles because of the combinatorial explosion of GL values with high ploidy, and some STR validation targets had up to 12 alt alleles, resulting of GL vectors of > 1e8 elements. Can't use pileup elements since typically not many alleles will be in one pileup, and different alleles will appear in different samples, TBD a nicer solution. c) Commit to posterity scala script for large scale validation calling, still work in progress 2012-07-19 10:24:08 -04:00
Eric Banks 5f5edeca63 Reverting move of BQSR tests to public, as per DR's email 2012-07-19 10:02:05 -04:00
Eric Banks 9c1ab1b0c0 Move BQSR integration test and its dependent files into public; previously there was a protected->private dependency. 2012-07-18 21:11:33 -04:00
Mark DePristo 74e153ff4a FisherStrand now uses RankSumTest isUsableBase to decide if a read should be included in testing
-- Previously used hardcoded MAPQ > 20 && QUAL > 20 but now uses isUsableBase
-- Updating MD5s as appropriate
2012-07-18 16:07:47 -04:00
Eric Banks e4db8dde91 Enabled a whole other bunch of integration tests for BQSRv2. While I was there I also changed the default context size for indels to 3 (from 8) since that's what works best in the current implementation (as suggested by Ryan). At this point, all of the new core tools (ReduceReads, BQSRv2, HaplotypeCaller, UG extensions) have been moved over to protected and should be stable. Looks like we are pretty much ready for GATK 2.0! 2012-07-17 23:36:43 -04:00
Guillermo del Angel 731bbba2e6 Bug fixes for integration test, use correct new UG syntax 2012-07-17 16:57:59 -04:00
Guillermo del Angel 40b8c7172c Pool Caller refactoring in preparation of GATK 2.0: a) PoolCallerUnifiedArgumentCollection disappeared, and arguments moved to UnifiedArgumentCollection. b) PoolCallerWalker is no longer needed and redundant, all functionality subsumed by UG. UG now checks if GATK is lite - if so, don't allow ploidy > 2. c) Moved pool classes from private to protected. d) Changed the way to specify ploidy. Instead of specifying samples per pool and having ploidy = 2*samplesPerPool, have user specify ploidy directly, which is cleaner. Update tests accordingly. We can now call triploid seedless grape genotypes correctly in theory. e) Renamed argument -reference to -reference_sample_calls since the former is ambiguous and it's not clear what it refers to. 2012-07-17 15:27:04 -04:00
Eric Banks b0d99fd10d Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-17 15:12:28 -04:00
Eric Banks 305db8c0d1 Total rewrite of the isGATKLite() functionality with help of Khalid/David. PluginManager was not working for us. 2012-07-17 15:11:03 -04:00
Ryan Poplin bf2d5efe4d Moving HaplotypeCaller integration and unit tests over to protected as well. 2012-07-17 14:51:26 -04:00
Ryan Poplin c55934043e Moving HaplotypeCaller from private to protected 2012-07-17 14:41:19 -04:00
Eric Banks 3a64398d07 Cleaned up the isGATKLite check 2012-07-17 12:46:16 -04:00
Eric Banks 62c5228048 1) Revert previous change - indel recalibration is turned on by default and users of the Lite version will need to turn it off to avoid a User Error. 2) Implemented the engine.isGATKLite() method. 2012-07-17 12:23:40 -04:00
Eric Banks 40618ac471 A bunch of BQSR changes: 1) by default we do not emit indel quals, but they can be turned on with --enable_indel_quals. 2) We check whether or not we are running in Lite mode (not done yet) and if so and the user is trying to recalibrate indels, we throw a User Error (not supported). 3) Like v1 we now allow the user to set the qual value below which we don't recalibrate (this was the remaining source of differences in the v1 vs. v2 plots). 2012-07-17 10:52:43 -04:00
Eric Banks d5b3a2eabf Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-17 00:32:53 -04:00
Eric Banks f657b8bda8 Complete overhaul of the BQSRv2 integration tests. Much more comprehensive. Still need to deal with a few tests that need some modifications before I'm done, but I'll take care of that sometime tomorrow. 2012-07-17 00:32:34 -04:00
Eric Banks 0a89adbcdb Add utility decorators so that classes can tell you which package source they come from if they want to (suggested by Khalid). Using those decorators, we can easily pull out the BQSR updateDataForPileupElement() method into a standard RecalibrationEngine and an AdvancedRecalibrationEngine and use the protected one (AdvancedRE) if available (otherwise, the public one). 2012-07-16 15:34:50 -04:00
Eric Banks 52baac1e16 Move BQSRv2 into public and v1 into the archive. 2012-07-16 14:23:38 -04:00
Joel Thibault 6c6a324583 Loosen a restriction on isOriginalRead()
* no longer needs to satisfy ReadAndIntervalOverlap.OVERLAP_CONTAINED
2012-07-16 14:07:10 -04:00
Eric Banks d7bf74fb7e Updating default value for -mindel to the one used by Khalid in the pipeline and me in my tests. 2012-07-10 02:04:26 -04:00
Mauricio Carneiro 6c17c50fa2 Updates to ReduceReads
* Added optional parameter to not hard clip on the interval border
   * Made not clipping the default behavior (hence integration tests changed)
   * Updated integration tests.
2012-07-09 13:46:51 -04:00
Mauricio Carneiro 12d1c594df Moving ReduceReads into protected 2012-06-25 17:01:33 -04:00
David Roazen 9c6bccfd8b build system overhaul
* Added support for a protected directory whose contents are only made public in binary form

* Simplified and reorganized build.xml to improve readability and maintainability

* build.xml now autodetects most build properties:
    -Includes private/protected if they exist
    -No more STING_BUILD_TYPE or specialized targets for public-only, etc.

* Build targets have changed! There are now two main build options:

"ant"       build everything (GATK and Queue)
"ant gatk"  build just the GATK

It was too hard to build everything before -- now it is the default.

* To run tests with debugging, use -Dtest.debug=true -Dtest.debug.port=XXXX on the command line.
  Much better than the old comment/uncomment method!
2012-05-17 15:16:29 -04:00