Commit Graph

2539 Commits (32ee2c7dffde3210e2c3b183f5f2fefd3a49af23)

Author SHA1 Message Date
Mark DePristo 0c4e729e13 Working version of adaptive context calculations
-- Uses chi2 test for independences to determine if subcontext is worth representing.   Give excellent visual results
-- Writes out analysis output file producing excellent results in R
-- Trivial reformatting of MathUtils
2012-07-31 08:11:04 -04:00
Mark DePristo 93640b382e Preliminary version of adaptive context covariate algorithm
-- Works according to visual inspection of output tree
2012-07-31 08:11:04 -04:00
Mark DePristo 315d25409f Improvement to RecalDatum and VisualizeContextTree
-- Reorganize functions in RecalDatum so that error rate can be computed indepentently.  Added unit tests.  Removed equals() method, which is a buggy without it's associated implementation for hashcode
-- New class RecalDatumTree based on QualIntervals that inherits from RecalDatum but includes the concept of sub data
-- VisualizeContextTree now uses RecalDatumTree and can trivially compute the penalty function for merging nodes, which it displays in the graph
2012-07-31 08:11:04 -04:00
Mark DePristo 57b45bfb1e Extensive unit tests, contacts, and documentation for RecalDatum 2012-07-31 08:11:03 -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
Mark DePristo 191294eedc Initial cleanup of RecalDatum for move and further refactoring
-- Moved Datum, the now unnecessary superclass, into RecalDatum
-- Fixed some obviously dangerous synchronization errors in RecalDatum, though these may not have caused problems because they may not have been called in parallel mode
2012-07-31 08:11:03 -04:00
Mark DePristo 0670316288 Be clearer that dcov 50 is good for 4x, should use 200 for >30x 2012-07-31 08:11:02 -04:00
Mark DePristo 874dbf5b58 Maximum wait for GATK run report upload reduced to 10 seconds 2012-07-31 08:11:02 -04:00
Ryan Poplin 7ed06ee7b9 Updating FindCoveredIntervals to use the changes to the ActiveRegionWalker. 2012-07-30 12:16:27 -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
Eric Banks 0b30588d67 Catch yet another class of User Errors 2012-07-30 11:59:56 -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
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 ef335b6213 Several more walkers have been brought up to use the new Allele representation. 2012-07-27 02:14:25 -04:00
Eric Banks 9e2209694a Re-enable reverse trimming of alleles in UG engine when sub-selecting alleles after genotyping. UG integration tests now pass. 2012-07-27 00:47:15 -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
Mark DePristo 8c418a15da Sorting out HMS error handling (fingers crossed)
-- Check if a traversal error occurred in the last shard
-- Catch ExecutionException from the TreeReducer and throw as our HMS execption
-- ShardTraverser just throws the exception as formatted by the HMS, rather than wrapping it as a RuntimeException itself
-- EngineFeaturesIntegrationTests now uses public exampleFASTA (faster), and does 1000x iterations (slower)
2012-07-25 23:13:12 -04:00
Mark DePristo 9242f63a4d On the way to really sorting out HMS error handling
-- Better error message when a traveral error occurs (a real bug)
-- EngineFeaturesIntegrationTest runs the multi-threaded error testing routines 50x times
-- A bit of cleanup in WalkerTest
2012-07-25 22:11:10 -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 2982b24c4b Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/stable 2012-07-25 20:36:53 -04:00
Eric Banks 0a98a6aa8d Adding extraDocs tag per Mauricio's request 2012-07-25 18:23:18 -04:00
Mauricio Carneiro fce5cb9f35 Few category changes 2012-07-25 17:23:02 -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
Mauricio Carneiro d46cf47bd1 Updating Read Filter documentation 2012-07-25 15:05:47 -04:00
Eric Banks 6a3bfa3811 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/stable 2012-07-25 14:11:11 -04:00
Eric Banks 357e0b35af Register GATK-full-only walkers and rethrow the missing walker error as a not supported in GATK lite error 2012-07-25 14:11:03 -04:00
Roger Zurawicki 5b74763096 Removed Categories.
We will use DocumentedGATKFeatures to create categories in our documentation. Eric I guess will be in charge of this. We need to remove walkers and think how to categorize everything.

Tools can be hidden from GATKdocs with the @Hidden annotation

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-07-25 13:46:24 -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 e0c07f5567 Reverting old commits that made error handling better because ultimately they made things worse. 2012-07-25 12:37:59 -04:00
Mark DePristo fcefa61bce Remove reference dependence in BCF2Codec
-- Adding BCF2Codec to VCF.jar and associated unit tests

Signed-off-by: Mark DePristo <depristo@broadinstitute.org>
2012-07-25 08:56:38 -04:00
Mark DePristo 19a257a5c1 Multiple bugfixes
-- VariantFiltration now properly sets passFilters in VC
-- BCF2 writer now properly decodes lazy BCF genotype data that it uses.  Improper use generated a horrible subtle bug but the good news is that the extra checks I put in (unnecessarily a few days ago) caught the bug!

Signed-off-by: Mark DePristo <depristo@broadinstitute.org>
2012-07-25 08:56:38 -04:00
Mark DePristo 3066894215 Bugfix for BCF2
-- Always decode genotypes block when writing out a BCF file.  If the header changes (and we currently don't know this easily) then the dictionary keys used in the genotypes block may be invalid.  Temporarily added a private static boolean that turns off writing of the blocks until Eric and his team rewrite the header.

Signed-off-by: Mark DePristo <depristo@broadinstitute.org>
2012-07-25 08:56:38 -04:00
Guillermo del Angel eb55061fd0 a) Document BEAGLE codec, b) Bug fix: inbreeding coefficient shouldn't be computed for non-diploid organisms in current implementaiton 2012-07-24 12:16:15 -04:00
Mauricio Carneiro 348e86159e Moving doclets to public 2012-07-23 23:52:14 -04:00
Mauricio Carneiro 5cd98a36b9 Making ForumAPIUtils public 2012-07-23 17:44:24 -04:00
Mauricio Carneiro 3d92f041f3 forgot to delete the merging line 2012-07-23 17:35:07 -04:00
Roger Zurawicki f3c504769b Added the ability to update the Forum
GATKDocs looks for a key on gsa4, and updates the forum with new walker if it exists.
More changes were made to the GATKDocs. Works nicely with bootstrap on and offline.
Cleaned up the code as well

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-07-23 17:17:33 -04:00
Khalid Shakir 46ca49b63d Removed 'Walker' suffix from packages/GATKEngine.xml that were breaking the packaged release.
Archived AnalyzeCovariates scripts and removed references in build packages / GATK extensions.
2012-07-23 16:32:31 -04:00
Ryan Poplin 2a14bbe4f0 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-23 11:28:26 -04:00
Ryan Poplin 10d143c35c Adding error model header names in the BQSR recal plot. Making the downsampling of points look a little nicer. 2012-07-23 11:28:17 -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 921eaad33f Generalized the default platform parameter in BQSRv2
Parameter wasn't working outside of the BQSR walker. It now takes the information on the recalibration report in other tools (PrintReads for example) and treats all reads as coming from the defined default platform.
2012-07-20 17:29:13 -04:00
Mauricio Carneiro 5dc2143142 Removed support for walkers ending with "Walker" from the engine.
If your walker has "Walker" in the name, you will have to use "Walker" on the -T to access it.
2012-07-20 17:27:11 -04:00
Mauricio Carneiro d446d34227 GATK Error messages now point to the new website instead of GetSatisfaction. 2012-07-20 17:27:11 -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
Christopher Hartl 3ee46cced2 Merge branch 'master' of ssh://gsa1.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-19 21:25:40 -04:00
Christopher Hartl af383c30b5 Ensure that the gene summary has a header line 2012-07-19 21:24:04 -04:00
Mark DePristo 2ca5fc62a2 Support for MISSING BCF2 type
-- Heng wants to use 0x0? to represent any missing type value, which in our implementation was invalid.  Updated our codebase to support this construct.  Heng said he'll update the BCF2 quick reference.
-- Enabled integration test reading Heng's ex2.bcf file
-- GATK now only warns in the case where the END info field isn't the same (or +1 due to padding) as the getEnd() function as determined by the GATK.  Turns out there's a single record in the 1000G SV call set that doesn't have the right length
-- VariantContextTestProvider now tests that X = Y where X -> writing -> reading -> writing -> reading = Y for a variety of variant context inputs X
-- Added integration test reading 1000G SV chr1 calls (from Chris)
2012-07-19 16:14:26 -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 e370030e6c As requested by Mark, I've broken out the code to pull out the protected subclass when available (and otherwise use the public version) into the GATKLiteUtils class. People should use this code instead of reimplementing all of the java reflection on their own. 2012-07-18 22:44:37 -04:00
Eric Banks d46ccec04e Adding Unit Tests to cover the exception catching for Picard errors: because we are using String matching, we want to ensure that we know if/when the exception text changes underneath us. 2012-07-18 21:48:58 -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
Mark DePristo dede3a30e9 Improvements to the validation report of VariantEval
-- If eval has genotypes and comp has genotypes, then subset the genotypes of comp down to the samples being evaluated when considering TP, FP, FN, TN status.  This is important in the case where you want to use this to assess, for example, the quality of calls on NA12878 but you have a CEU trio comp VCF.  The previous version was counting sites polymorphic in mom against the calls in NA12878.
-- Added testdata VCF and integrationtests to ensure this behavior continues in the future
-- TODO: actually run integration tests when I have an internet connection
2012-07-18 16:07:47 -04:00
Mark DePristo 559a4826be Improvements to the validation report of VariantEval
-- If eval has genotypes and comp has genotypes, then subset the genotypes of comp down to the samples being evaluated when considering TP, FP, FN, TN status.  This is important in the case where you want to use this to assess, for example, the quality of calls on NA12878 but you have a CEU trio comp VCF.  The previous version was counting sites polymorphic in mom against the calls in NA12878.
-- Added testdata VCF and integrationtests to ensure this behavior continues in the future
2012-07-18 16:07:46 -04:00
Mark DePristo dc292c0317 FisherStrand now includes all reads and bases, regardless of mapping quality and base quality, just like other annotations
-- This actually proved to be a problem with Ion Torrent data where the base quality can be quite low, and so we need to include Q15 bases for calling effectively.
2012-07-18 16:07:46 -04:00
Eric Banks 2c0f073ab1 Make -qq arg hidden for now since it's still very experimental 2012-07-18 15:43:25 -04:00
Eric Banks b46c85e8b4 More bad BAM file catching 2012-07-18 15:26:31 -04:00
Eric Banks 659eee13a6 Handle NPE generated in UG when non-standard reference bases are present in the fasta 2012-07-18 15:16:27 -04:00
Eric Banks 9af2cfe283 Catch underlying file system problems that get masked as Tribble index errors. There's also a quick patch to the HMS that isn't really the ultimate fix needed; Mark and I will review at a later point. 2012-07-18 15:11:38 -04:00
Eric Banks 4c730542f0 Handle RuntimeExceptions thrown by Picard that are really User Errors. I will add unit tests for these as best I can later. 2012-07-18 13:56:35 -04:00
Eric Banks ae08d35138 Catch 'too many open files' errors that show up when trying to read the bam index. All that needs to be done is to flesh out the original error message (because it will get caught later and rethrown correctly). 2012-07-18 12:57:34 -04:00
Eric Banks f2fe59a9d4 Wow, there are a ton of errors captured having to do with being unable to merge the temp Tribble output. I'm expanding the error message a bit to help see if we can do anything going forward. 2012-07-18 12:31:59 -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
Eric Banks a8d08ea18d As a user pointed out, it is not valid for a GenomeLoc to have a start or stop equal to 0. 2012-07-17 22:18:43 -04:00
Guillermo del Angel 29273abab7 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-17 16:58:12 -04:00
Guillermo del Angel 731bbba2e6 Bug fixes for integration test, use correct new UG syntax 2012-07-17 16:57:59 -04:00
Eric Banks 33be41ecf5 Cleaning up integration test 2012-07-17 16:06:04 -04:00
Eric Banks 8dbc9cb29c Add the ability to emit the original quals in the OQ tag 2012-07-17 15:52:56 -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
Laurent Francioli 68d0e4dd6d - Multi-allelic sites are now correctly ignored - Reporting of mendelian violations enhanced - Corrected TP overflow by caping it to Bye.MAX_VALUE
-Updated integrationtests to reflect changes in MVF file output

Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-07-17 15:21:10 -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 6efbcd99f1 HaplotypeCaller is now an AnnotatorCompatibleWalker with all the rights and privileges pertaining thereto. Enabling the ClippingRankSumTest after showing it was useful for 1000 Genomes calling. 2012-07-17 14:38:36 -04:00
Eric Banks 110886e8b9 Oops, got the logic wrong. 2012-07-17 13:37:11 -04:00
Eric Banks a963b37424 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-17 13:15:37 -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
Chris Saunders 1913d1bbd0 Put RunReport S3 upload on timeout thread
Move the RunReport S3 upload process onto a separate thread with a timeout allowing the parent to continue.

Signed-off-by: Khalid Shakir <kshakir@broadinstitute.org>
2012-07-17 12:19:39 -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 a003148d50 Move AnalyzeCovariates over too. 2012-07-16 16:11:56 -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
Khalid Shakir 07822d6c0f Fixed input annotations for master/test files on DiffObjectsWalker. 2012-07-16 13:33:11 -04:00
Eric Banks 2a830939df Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-14 23:49:59 -04:00
Eric Banks f29cadd7e2 By default, don't quantize quals in BQSRv2 2012-07-14 23:49:48 -04:00
Eric Banks 75543a3f22 ReadClipper.clipRead's claim that it doesn't modify the original read was false. Ultimately, GATKSAMRecord.clone (as documented) creates a soft copy of the read - so modifying e.g. the bases of the cloned read means that you modify the bases of the original read too. Because of this, when the BQSRv2 Context covariate was writing Ns over the low quality tails of the reads they got propagated out to the output BAM file (very bad). I've updated the ReadClipper docs and cleaned up the code (no reason to use a clone of the read anymore given that we are already modifying the original). For now, the simplest thing is to have the Context covariate store the original bases, overwrite low quality Ns, compute covariates, and rewrite the original bases; we can update later if needed. 2012-07-13 18:50:27 -04:00
Ryan Poplin 443f02ffc2 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-13 16:09:24 -04:00
Khalid Shakir 6dfcc486e8 In ApplyRecalibration marking filter as PASS instead of '.' when the site passes by calling .passFilters(). 2012-07-13 15:40:56 -04:00
Ami Levy Moonshine 5d0a7335ea remove unnecessary use in the PRIORITY list
remove unneeded imports
2012-07-13 15:27:08 -04:00
Ryan Poplin d70bb59182 HaplotypeCaller now calls insertion events that aren't fully assembled as symbolic alleles. 2012-07-10 14:22:23 -06:00
Guillermo del Angel 279dff9f81 Bug fix when specifying a JEXL expression for a field that doesn't exist: we should treat the whole expression as false, but we were rethrowing the JEXL exception in this case. Added integration test to cover this in SelectVariants 2012-07-10 13:59:00 -04:00
Mauricio Carneiro 7eb45b4038 Fixed BQSR IntegrationTests
* BinaryTag covariate is Experimental, not Standard (this was breaking integration tests)
   * New parameter in the Recalibration report requires new MD5 for one of the integration tests.
2012-07-09 13:55:12 -04:00
Eric Banks dd0c47ab7e Don't cast to a specific walker type since any walker can use the VA engine 2012-07-09 10:25:58 -04:00
Mark DePristo 5b0ade67c8 Updates to VCF processing for better BCF processing
-- getMetaData now split into getMetaDataInSortedOrder() [old functionality] and getMetaDataInOriginalOrder() [according to the header order].  Important as BCF uses the order of elements in the header in the offsets to keys, and we were automatically sorting the BCF2 header which is out of order in samtools and the whole system was going crazy
-- Updating GATK code to use the appropriate header function (this is why so many files have changed)
-- BCF2 code was busted in not differentiating PASS from . from FILTER in VC (tests coming that will actually stress this)
-- Bugfix for adding contig lines to BCF2 header dictionary
-- VCFHeader metaData no longer sorted internally.  The system now maintains the data in header order, and only sorts output as requested in API
-- VCFWriter and BCF2Writer now explictly sort their header lines
-- Don't allow filters to be added that are PASS in the contract
2012-07-08 15:44:33 -07:00
Mark DePristo 63f5262e45 mergeInfoWithMaxAC is no longer hidden in CombineVariants 2012-07-08 15:44:32 -07:00
Mark DePristo 66aee613e2 Bugfix for set key in mergeInfoWithMaxAC.
-- Previous version was always setting set=source of info with highest AC.  Should actually have been set to the set annotation value itself.
2012-07-08 15:44:32 -07:00
Mark DePristo 91f0ed8059 Fixed nasty Rscript typo in VariantRecalibrator when compactPDF is available 2012-07-08 15:44:32 -07:00
Mark DePristo 87b090c362 Update VariantRecalibator error message to use -resource not old -B syntax 2012-07-08 15:44:31 -07:00
Mauricio Carneiro 125e6c1a47 added BinaryTagCovariate for ancient dna analysis 2012-07-06 15:03:20 -04:00
Mauricio Carneiro f603d4c48c Fixing PairHMMIndelErrorModel boundary issue
When checking the limits of a read to clip, it wasn't considering reads that may already been clipped before.
2012-07-06 11:48:04 -04:00
Eric Banks dd571d9aa0 Added a --no_indel_quals argument that when used with -BQSR inhibits the writing of base insertion and base deletion quality tags. 2012-07-04 01:22:20 -04:00
Eric Banks 33306d2e20 Changing the logic of the -standard argument; the way it stands currently one can never turn off the cycle or context covariates. Now they are on by default and users must opt out of them to turn them off. 2012-07-04 00:21:21 -04:00
Eric Banks 7d30558e6f Only 'pad' the cycle covariate for indels, not substitutions 2012-07-03 23:47:01 -04:00
Eric Banks 22f1afddaa Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-03 14:55:59 -04:00
Eric Banks 617eebd204 More misc cleanup 2012-07-03 14:55:37 -04:00
Eric Banks 344c3aeb1d Cleanup from previous commit 2012-07-03 14:42:44 -04:00
Ryan Poplin 9e8e78de15 Adding the model name to the VQSR filter lines so that they don't get clobbered with consecutive VQSR runs for SNPs and then indels. 2012-07-03 14:30:37 -04:00
Eric Banks 0b37d44b0d Optimizations for the RecalDatum to make BQSR (Count Covariates) much faster. Needs some cleanup. 2012-07-03 13:05:11 -04:00
Eric Banks 031322ff00 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-03 00:12:59 -04:00
Eric Banks a4670113bd Refactored/renamed the nested integer array; cleaned up code a bit. 2012-07-03 00:12:33 -04:00
Ryan Poplin f92139dd82 Ooops, UG VA path for rank sum tests aren't happy with empty lists. Disabling clipping rank sum test for now. 2012-07-02 21:12:42 -04:00
Ryan Poplin 7e7b4cd1b9 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-02 16:37:54 -04:00
Ryan Poplin b807ff63ef HaplotypeCaller now creates MNP and complex substitutions by using LD information to decide if events segregate together on haplotypes. Added unit test. 2012-07-02 16:37:39 -04:00
Mauricio Carneiro 3cea080aa8 Cache SoftStart() and SoftEnd() in the GATKSAMRecord
these are costly operations when done repeatedly on the same read.
2012-07-02 16:22:00 -04:00
Mauricio Carneiro 88a02fa2cb Fixing but for reads with cigars like 9S54H
When hard-clipping predict when the read is going to be fully hard clipped to the point where only soft/hard-clips are left in the read and preemptively eliminate the read before the SAMRecord mathematics on malformed cigars kills the GATK.
2012-07-02 16:22:00 -04:00
Eric Banks cac72bce91 Initial version of int indexed mapping for BQSR. Will be cleaned up in a bit. 2012-07-02 14:33:33 -04:00
Mark DePristo bcd2e13d8b Adding duplicate header line keys is a logger.debug not logger.warn message now 2012-07-02 11:39:34 -04:00
Mark DePristo 01e04992f8 Fixed compatibilities in AbstractVCFCodec that resulted in key=; being parsed as written as key; in VCF output 2012-07-02 11:38:59 -04:00
Eric Banks c94c8a9c09 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-02 08:53:01 -04:00
Mark DePristo 7aff4446d4 Added unit tests for header repairing capabilities in the GATK engine 2012-07-01 15:38:10 -04:00
Mark DePristo 480b32e759 BCF2 is now officially zero-based open-interval, and that's how the GATK does it now 2012-07-01 14:59:27 -04:00
Ryan Poplin b6093ff02c Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-01 10:32:37 -04:00
Mark DePristo 5ad9a98a15 Minor bugfixes / consistency fixes to filter strings of Genotypes and AC/AF annotations
-- GenotypeBuilder now sorts the list of filter strings so that the output is in a consistent order
-- calculateChromosomeCounts removes the AC/AF fields entirely when there are no alt alleles, to be on VCF spec for A defined info field values
2012-06-30 11:22:49 -04:00
Mark DePristo 385a3c630f Added check in VariantContext.validate to ensure that getEnd() == END value when present
-- Fixed bug in VariantDataManager that this validation mode was intended to detect going forward
-- Still no VariantRecalibrationWalkersIntegrationTest for indels with BCF2 but that's because LowQual is missing from test VCF
2012-06-30 11:22:48 -04:00
Mark DePristo 893630af53 Enabling symbolic alleles in BCF2
-- Bugfix for VCFDiffableReader: don't add null filters to object
-- BCF2Codec uses new VCFAlleleClipper to handle clipping / unclipping of alleles
-- AbstractVCFCodec: decodeLoc uses full decode() [still doesn't decode genotypes] to avoid dangerous code duplication.  Refactored code that clipped alleles and determined end position into updateBuilderAllelesAndStop method that uses new VCFAlleleClipper. Fixed bug by ensuring the VCF codec always uses the END field in the INFO when it's provided, not just in the case where the there's a biallelic symbolic allele
-- Brand new home for allele clipping / padding routines in VCFAlleleClipper.  Actually documented this code, which results in lots of **** negative comments on the code quality.  Eric has promised that he and Ami are going to rethink this code from scratch.  Fixed many nasty bugs in here, cleaning up unnecessary branches, etc.  Added UnitTests in VCFAlleleClipper that actually test the code full.  In the process of testing I discovered lots of edge cases that don't work, and I've commented out failing tests or manually skipped them, noting how this tests need to be fixed.  Even introduced some minor optimizations
-- VariantContext: validateAllele was broken in the case where there were mixed symbolic and concrete alleles, failing validation for no reason.  Fixed.
-- Added computeEndFromAlleles() function to VariantContextUtils and VariantContextBuilder for convenience calculating where the VC really ends given alleles
--
2012-06-30 11:22:48 -04:00
Mark DePristo 16276f81a1 BCF2 with support symbolic alleles
-- refactored allele clipping / padding code into VCFAlleleClipping class, and added much needed docs and TODOs for methods dev guys
-- Added real unit tests for (some) clipping operations in VCFUtilsUnitTest
2012-06-30 11:22:48 -04:00
Mark DePristo 6bea28ae6f Genotype filters are now just Strings, not Set<String> 2012-06-30 11:22:47 -04:00
Guillermo del Angel f631be8d80 UnifiedGenotyperEngine.calculateGenotypes() is not only used in UG but in other walkers - vc attributes shouldn't be inherited by default or it may cause undefined behaviour in those walkers, so only inherit attributes from input vc in case of UG calling this function 2012-06-29 23:51:52 -04:00
Guillermo del Angel 65037b87da Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-29 11:08:44 -04:00
Guillermo del Angel 5a9a37ba01 Pool caller improvements: a) Log ref sample depth at every called site (will add more ref-related annotations later), b) Make -glm POOLBOTH work in case we want to genotype snp's and indels together, c) indel bug fix (pool and non-pool): prevent a bad GenomeLoc to be formed if we're running GGA and incoming alleles are larger than ref window size (typically 400 bb) 2012-06-29 11:08:16 -04:00
Eric Banks 96ea334bf2 Disable caching in BQSR for now since it significantly slows down computation; will look into this in a bit. 2012-06-28 15:27:44 -04:00
Ryan Poplin 05791ebf80 Adding the Clipping rank sum test: If alternate-supporting reads have more hard clipping than reference-supporting reads this is evidence for error. 2012-06-28 13:22:56 -04:00
Ryan Poplin d12ec92a55 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-28 12:57:59 -04:00
Ryan Poplin 5bb0693888 Bug fix for HC GGA mode. Shouldn't try to add an indel into the haplotype if that haplotype already contains the event of interest. Misc minor assembly param changes. Turning off capping of base qualities by base indel qualities until we can evaluate that change. 2012-06-28 12:57:51 -04:00
Khalid Shakir 1ce0b9d519 Throwing UnknownTribbleType exception instead of CommandLineException when an unknown tribble type is specified. 2012-06-28 11:28:04 -04:00
Mark DePristo 734bb5366b Special case the situation where we have ploidy == 0 (no GT values) to implicitly assume we have diploid samples
-- numLikelihoods no longer allows even ploidy == 0 in requires
-- VCFCompoundHeaderLine handles the case where ploidy == 0 => implicit ploidy == 2
2012-06-28 10:06:07 -04:00
Mark DePristo 64d7e93209 Massive bugfixes
-- Previous version was reading the size of the encoded genotypes vector for each genotype.  This only worked because I never wrote out genotype field values with > 15 elements.  Mauricio's killer DiagnoseTargets VCF uncovered the bug.  Unfortunately since symbolic allele clipping is still busted those tests are still diabled
-- GenotypeContext getMaxPloidy was returning -1 in the case where there are no genotypes, but the answer should be 0.
2012-06-28 10:06:06 -04:00
Mark DePristo 7144154f53 VCFWriter and BCFWriter no longer allow missing samples in the VC compared to their header
-- They now throw an error, as its really unsafe to write out ./. as a special case in the VCFWriter as occurred previously.
-- Added convenience method in VariantContextUtils.addMissingSamples(vc, allSamples) that returns a complete VC where samples are given ./. Genotype objects
-- This allows us to properly pass tests of creating / writing / reading VCFs and BCFs, which previously differed because the VC from the VCF would actually be different from its original VC
-- Updated UG, UGEngine, GenotypeAndValidateWalker, CombineVariants, and VariantsToVCF to manage the master list of samples they are writing out and addMissingSamples via the VCU function
2012-06-28 10:06:06 -04:00
Mark DePristo 4811a00891 GENOTYPE_FILTER_KEY is now a VCFStandardHeaderLine 2012-06-28 10:06:05 -04:00
Mark DePristo 93426a44b1 Fixes for DiagnoseTargets to be VCF/BCF2 spec complaint
-- Don't use DP for average interval depth but rather AVG_INTERVAL_DP, which is a float now, not an int
-- Don't add PASS filter value to genotypes, as this is actually considered failing filters in the GATK.  Genotype filters should be empty for PASSing sites
2012-06-28 10:06:05 -04:00
Eric Banks dc7636b923 Refactor the ContextCovariate to significantly reduce runtime 2012-06-28 02:29:35 -04:00
Eric Banks 1fafd9f6c8 NestedHashMap-based implementation of BQSRv2 along with a few minor optimizations. Not a huge runtime upgrade over the long bitset approach, but it allows us to implement further optimizations going forward. Integration test change because the original version had a bug in the quantized qual table creation. 2012-06-27 16:55:49 -04:00
Khalid Shakir 746a5e95f3 Refactored parsing of Rod/IntervalBinding. Queue S/G now uses all interval arguments passed to CommandLineGATK QFunctions including support for BED/tribble types, XL, ISR, and padding.
Updated HSP to use new padding arguments instead of flank intervals file, plus latest QC evals.
IntervalUtils return unmodifiable lists so that utilities don't mutate the collections.
Added a JavaCommandLineFunction.javaGCThreads option to test reducing java's automatic GC thread allocation based on num cpus.
Added comma to list of characters to convert to underscores in GridEngine job names so that GE JSV doesn't choke on the -N values.
JobRunInfo handles the null done times when jobs crash with strange errors.
2012-06-27 01:15:22 -04:00
Mark DePristo 1f45551a15 Bugfixes to G count types in VCF header
-- Previously VCF header lines of count type G assumed that the sample would be diploid.
-- Generalized the code to take a VariantContext and return the right result for G count types by calling into the correct numGenotypes in GenotypeLikelihoods class
-- renamed calcNumGenotypes to numGenotypes, which uses a static cache in the class
-- calcNumGenotypes is private, and is used to build the static cache or to compute on the fly for uncached No. allele / ploidy combinations
-- VariantContext calls into getMaxPloidy in GenotypesContext, which caches the max ploidy among samples
-- Added extensive unit tests that compare A and G type values in genotypes
2012-06-26 15:28:34 -04:00
Mark DePristo 39c849aced Bugfix to ensure the DB=1 old files decode properly 2012-06-26 15:28:33 -04:00
Mark DePristo c1ac0e2760 BCF2 cleanup
-- allowMissingVCFHeaders is now part of -U argument.  If you want specifically unsafe VCF processing you need -U LENIENT_VCF_PROCESSING.  Updated lots of files to use this
-- LENIENT_VCF_PROCESSING disables on the fly VCF header cleanup.  This is now implemented via a member variable, not a class variable, which I believe was changing the GATK behavior during integration tests, causing some files to fail that pass when run as a single test because the header reading behavior was changing depending on previous failures.
2012-06-26 15:28:33 -04:00
Mark DePristo 11dbfc92a7 Horrible bugfix to decodeLoc() in BCF2Codec
-- Just completely wrong.
-- BCF2 shadowBCF now checks that the shadow bcf can be written to avoid /dev/null.bcf problem
-- Added samtools ex2.bcf file for decoding to our integrationtests
2012-06-26 15:28:32 -04:00
Mark DePristo 7dbba465ee Bugfix for shadow BCFs to not attempt to write to /dev/null.bcf 2012-06-26 15:28:32 -04:00
Roger Zurawicki 7eb3e4da41 Added integration Tests for DiagnoseTargets
Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-06-25 17:02:46 -04:00
Joel Thibault f0c54d99ed Account for a null attributes object
* field attributesCanBeModified - a null attributes object can't be modified in its current state
* method makeAttributesModifiable() - initialize a null attributes object to empty
2012-06-25 12:07:36 -04:00
Joel Thibault fd9effbfe2 Fix Exception typo 2012-06-25 12:05:04 -04:00
Ryan Poplin 429ad44421 Bug fix for read pos rank sum test annotation. Shouldn't be using the un-hardclipped start as the alignment start. 2012-06-22 14:53:29 -04:00
Ryan Poplin 735b59d942 Bug fix in MLEAC calculation for when the exact model says the greedy AC of the alternate allele is zero. 2012-06-22 12:38:48 -04:00
Ryan Poplin 0650b349d7 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-22 10:42:49 -04:00
Guillermo del Angel eed32df30d a) Sanity check in PoolCaller: if user didn't specify correct -glm or -pnrm models then error out with useful message, b) Have VariantsToTable deal with case where sample namess have spaces: technically they're allowed (or at least not explicitly forbidden) but they'll produce R-incompatible tables. TBD which other tools have issues, or whether there's a generic fix for this 2012-06-21 21:19:55 -04:00
Mark DePristo 734756d6b2 Final fixes before BCF2 mark III push
-- Added MLEAC and MLEAF format lines to PoolCallerWalker
-- VariantFiltrationWalker now throws an error when JEXL variables cannot be found (XXX < 0.5) but passes through (albeit with a disgusting warning) when a variable is found but its value is a bad type (AF < 0.5) where AF == [0.04,0.00] at multi-allelic variation
-- Allow values to pass assertEquals in VariantContextTestProvider when one file contains X=[null, null] and the other has X missing
2012-06-21 15:17:22 -04:00
Mark DePristo 31ee8aa01a JEXL update
-- Update to 2.1.1 from 2.0
-- VariantFiltrationWalker now allows you to run with type unsafe selects, which all default to false when matching.  So "AF < 0.5" works even in the presence of multi-allelics now.
--
2012-06-21 15:17:21 -04:00
Mark DePristo 549293b6f7 Bugfixes towards final BCF2 implementation
-- MLAC and MLAF in PoolCaller now use standard MLE_AC and MLE_AF
-- VCFDiffableReader disables onTheFly fixing of VCF header fields so comparisons are easier when headers are changing
-- Flag fields with FLAG_KEY=0 are parsed as though FLAG_KEY were entirely absent in AbstractVCFCodec to fix bug where FLAG_KEY=0 was being translated into FLAG_KEY in output VCF, making a false flag value a true one
-- Fix the GT field value in VariantContextTestProviders so it isn't fixed 1000s of times during testing
-- Keys whose value is null are put into the VariantContext info attributes now
2012-06-21 15:17:21 -04:00
Mark DePristo 567dba0f76 Cleanup of VCF header lines and constants, BCF2 bugfixes
-- Created public static UnifiedGenotyper.getHeaderInfo that loads UG standard header lines, and use this in tools like PoolCaller
-- Created VCFStandardHeaderLines class that keeps standard header lines in the GATK in a single place.  Provides convenient methods to add these to a header, as well as functionality to repair standard lines in incoming VCF headers
-- VCF parsers now automatically repair standard VCF header lines when reading the header
-- Updating integration tests to reflect header changes
-- Created private and public testdata directories (public/testdata and private/testdata).  Updated tests to use test
-- SelectHeaders now always updates the header to include the contig lines
-- SelectVariants add UG header lines when in regenotype mode
-- Renamed PHRED_GENOTYPE_LIKELIHOODS_KEY to GENOTYPE_PL_KEY
-- Bugfix in BCF2 to handle lists of null elements (can happen in genotype field values from VCFs)
-- Throw error when VCF has unbounded non-flag values that don't have = value bindings
-- By default we no longer allow writing of BCF2 files without contig lines in the header
2012-06-21 15:16:31 -04:00
Mark DePristo fba7dafa0e Finalizing BCF2 mark III commit
-- Moved GENOTYPE_KEY vcf header line to VCFConstants.  This general migration and cleanup is on Eric's plate now
-- Updated HC to initialize the annotation engine in an order that allows it to write a proper VCF header.  Still doesn't work...
-- Updating integration test files.  Moved many more files into public/testdata.  Updated their headers to all work correctly with new strict VCF header checking.
-- Bugfix for TandemRepeatAnnotation that must be unbounded not A count type as it provides info for the REF as well as each alt
-- No longer add FALSE values to flag values in VCs in VariantAnnotatorEngine.  DB = 0 is never seen in the output VCFs now
-- Fixed bug in VCFDiffableReader that didn't differeniate between "." and "PASS" VC filter status
-- Unconditionally add lowQual Filter to UG output VCF files as this is in some cases (EMIT_ALL_SITES) used when the previous check said it wouldn't be
-- VariantsToVCF now properly writes out the GT FORMAT field
-- BCF2 codec explodes when reading symbolic alleles as I literally cannot figure out how to use the allele clipping code.  Eric said he and Ami will clean up this whole piece of instructure
-- Fixed bug in BCF2Codec that wasn't setting the phase field correctly.  UnitTested now
-- PASS string now added at the end of the BCF2 dictionary after discussion with Heng
-- Fixed bug where I was writing out all field values as BigEndian.  Now everything is LittleEndian.
-- VCFHeader detects the case where a count field has size < 0 (some of our files have count = -1) and throws a UserException
-- Cleaned up unused code
-- Fixed bug in BCF2 string encoder that wasn't handling the case of an empty list of strings for encoding
-- Fixed bug where all samples are no called in a VC, in which case we (like the VCFwriter) write out no called diploid genotypes for all samples
-- We always write the number of genotype samples into the BCF2 nSamples header.  How we can have a variable number of samples per record isn't clear to me, as we don't have a map from missing samples to header names...
-- Removed old filtersWereAppliedToContext code in VCF as properly handle unfiltered, filtered, and PASS records internally
-- Fastpath function getDisplayBases() in allele that just gives you the raw bytes[] you'd see for an Allele
-- Genotype fields no longer differentiate between unfiltered, filtered, and PASS values.  Genotype objects are all PASS implicitly, or explicitly filtered.  We only write out the FT values if at least one sample is filtered.  Removed interface functions and cleaned up code
-- Refactored padAllele code from createVariantContextWithPaddedAlleles into the function padAllele so that it actually works.  In general, **** NEVER COPY CODE **** if you need to share funcitonality make a function, that's why there were invented!
-- Increased the default number of records to read for DiffObjects to 1M
2012-06-21 15:16:27 -04:00
Mark DePristo 9c81f45c9f Phase I commit to get shadowBCFs passing tests
-- The GATK VCFWriter now enforces by default that all INFO, FILTER, and FORMAT fields be properly defined in the header.  This helps avoid some of the low-level errors I saw in SelectVariants.  This behavior can be disable in the engine with the --allowMissingVCFHeaders argument
-- Fixed broken annotations in TandemRepeat, which were overwriting AD instead of defining RPA
-- Optimizations to VariantEval, removing some obvious low-hanging fruit all in the subsetting of variants by sample
-- SelectVariants header fixes -- Was defining DP for the info field as a FORMAT field, as for AC, AF, and AN original
-- Performance optimizations in BCF2 codec and writer
    -- using arrays not lists for intermediate data structures
    -- Create once and reuse an array of GenotypeBuilders for the codec, avoiding reallocating this data structure over and over
-- VCFHeader (which needs a complete rewrite, FYI Eric)
    -- Warn and fix on the way flag values with counts > 0
    -- GenotypeSampleNames are now stored as a List as they are ordered, and the set iteration was slow.  Duplicates are detected once at header creation.
    -- Explicitly track FILTER fields for efficient lookup in their own hashmap
    -- Automatically add PL field when we see a GL field and no PL field
    -- Added get and has methods for INFO, FILTER, and FORMAT fields
-- No longer add AC and AF values to the INFO field when there's no ALT allele
-- Memory efficient comparison of VCF and BCF files for shadow BCF testing.  Now there's no (memory) constraint on the size of the files we can compare
-- Because of VCF's limited floating point resolution we can only use 1 sig digit for comparing doubles between BCF and VCF
2012-06-21 15:16:26 -04:00
Mauricio Carneiro ab53220635 Refactor on how RR treats soft clips
* Sites with more soft clipped bases than regular will force-trigger a variant region
   * No more unclipping/reclipping, RR machinery now handles soft clips natively.
   * implemented support for base insertion and base deletion quality scores in synthetic and regular reads.
   * GATKSAMRecord clone() now creates a fresh object for temporary attributes if one is present.

note: SAMRecords create a shallow copy of the tempAttribute object which was causing multiple reads (that came from the same read) to have their temporary attributes modified by one another inside reduce reads. Beware, if you're not using GATKSAMRecord!
2012-06-21 14:02:03 -04:00
Ryan Poplin 769e190202 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-20 09:59:55 -04:00
Christopher Hartl fe1d6e3953 Merge branch 'master' of ssh://gsa1.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-19 08:02:00 -04:00
Christopher Hartl 79ef3325bd Fix a NullPointerException that could occur in DoC if the user requested an interval summary but never provided a -L argument. This situation is now checked for and a UserError thrown instead. Also (after a great struggle) pushing some old VR3 code into the central repository which had been improperly pushed (e.g. with rsync rather than git push) into my repository on the server, and never migrated to unstable. In addition, minor convenience function added to the GATKReport that allows an entire row to be added, and a walker that parses out annotations from a tool called VariantEffectPredictor and summarizes annotations across transcripts, and consensus annotations. 2012-06-19 07:50:13 -04:00
Eric Banks 62cee2fb5b Feature request from Tim that could be useful to all: there's now an --interval_padding argument that specifies how many basepairs to add to each of the intervals provided with -L (on both ends). This is particularly useful when trying to run over the exome plus flanks and don't want to have to pre-compute the flanks (just use e.g. --interval_padding 50). Added integration test to cover this feature. 2012-06-18 21:36:27 -04:00
Eric Banks 4393adf9e7 If present, VE's AlleleCount stratification uses the MLE AC by default (and otherwise drops down to use the greedy AC). Added integration test to cover it. 2012-06-18 13:36:14 -04:00
Ryan Poplin 707151f0a4 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-18 12:55:58 -04:00
Eric Banks 82a2c40338 Emit the MLE AC and AF in the INFO field of the UG output 2012-06-18 12:19:36 -04:00
Ryan Poplin 5ec737f008 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-18 08:51:48 -04:00
Ryan Poplin e3147969d9 Smith Waterman parameters have somehow gotten too diverged from what it is used in the indel realigner. Results are very dependent on these params. Changes to the assembly to not create long haplotypes out of only small pieces that were properly assembled. 2012-06-18 08:51:41 -04:00
Eric Banks 677babf546 Officially removing all code associated with extended events. Note that I still have a longer term project on my plate to refactor the ReadBackedPileup, but that's a much larger effort. 2012-06-15 15:55:03 -04:00
Eric Banks 783b7f6899 Misc cleanup 2012-06-15 10:39:19 -04:00
Eric Banks 0c218e4822 Refactoring mostly for readability (and small performance improvement) 2012-06-15 10:36:41 -04:00
Eric Banks c54e84e739 Ryan confirmed that we don't need separate arguments to control the context size for insertions and deletions, which allows us to cut down the expensive context calculations. 2012-06-15 09:28:56 -04:00
Eric Banks 61fcbcb190 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-15 02:45:57 -04:00
Eric Banks 4895fe2289 No more extraneous array creation in BQSR covariate classes; now covariates push their data directly to the ReadCovariates class as it's calculated (no more going through CovariateValues.java) 2012-06-15 02:32:00 -04:00
Mark DePristo 0384ce5d34 Simple optimizations for BCF2Encoder
-- Inline encodeString that doesn't go via List<Byte> intermediate
-- Inline encodeString that uses byte[] directly so that we can go from Allele.getBytes() => BCF2
-- Fast paths for Atomic Float and Atomic Integer values avoiding intermediate list creation
-- Final UG integration test update
2012-06-14 16:42:39 -04:00
Mark DePristo 68eed7b313 Optimizations for VCF and BCF2
-- encodeTyped in BCF2Encoder now with specialized versions for int, float, and string, avoiding unnecessary intermediate list creation and dynamic type checking.  encodeTypedMissing also includes inline operations now instead of using Collections.emptyList() version.  Lots of contracts.  User code updated to use specialized versions where possible
-- Misc code refactoring
-- Updated VCF float formating to always include 3 sig digits for values < 1, and 2 for > 1.  Updating MD5s accordingly
-- Expanded testing of BCF2Decoder to really use all of the encodeTyped* operations
2012-06-14 16:42:39 -04:00
Mark DePristo 09df584788 Fixed nasty bug where we weren't closing the underlying PositionalOutputStream in IndexingVariantContextWriter 2012-06-14 16:42:39 -04:00
Mark DePristo fbc45e14d3 Cleanup formatting of VCF floats
-- Final integrationtest update before commit (and fixing new formatting changes)
2012-06-14 16:42:38 -04:00
Mark DePristo 8b01969762 More code cleanup and optimizations to BCF2 writer
-- Cleanup a few contracts
-- BCF2FieldManager uses new VCFHeader accessors for specific info and format fields
-- A few simple optimizations
    -- VCF header samples stored in String[] in the writer for fast access
    -- getCalledChrCount() uses emptySet instead of allocating over and over empty hashset
    -- VariantContextWriterStorage now creates a 1MB buffered output writer, which results in 3x performance boost when writing BCF2 files
-- A few editorial comments in VCFHeader
2012-06-14 16:42:38 -04:00
Mark DePristo e34ca0acb1 Passing all unittests
-- Final merge conflicts resolved
-- BCF2Writer now supports case where a sample is present in the header but the sample isn't in the VC, in which case we create an empty sample and encode that
2012-06-14 16:42:38 -04:00
Mark DePristo 71da76039e Final support for variable length lists of strings in BCF2
-- Updating many MD5s as well.
2012-06-14 16:42:38 -04:00
Mark DePristo bd9d40fb84 Code cleanup and more documentation for BCFFieldWriters
-- Update integration tests where appropriate
2012-06-14 16:42:37 -04:00
Mark DePristo 856905ee5b Cleanup Genotypes
-- Renamed getAttribute to getExtendedAttribute, as this is really what this function does
-- Added a few more genotype tests
2012-06-14 16:42:36 -04:00
Mark DePristo 31997f8092 Bugfixes on the way to passing integration tests
-- Replaced getAttributes with getDP() and not the old style getAttribute, where appropriate
-- Added getAnyAttribute and hasAnyAttribute that actually does the expensive work of seeing if the key is something like GT, AD or another inline datum, and returns it.  Very expensive but convenient.
-- Fixed nasty subsetting bug in SelectVariants with excluding samples
-- Generalized VariantsToTable to work with new inline attributes (using getAnyAttribute) as well as GT
-- Bugfix for dropping old style GL field values
-- Added test to VCFWriter to ensure that we have the sample number of samples in the VC as in the header
-- Bugfix for Allele.getBaseString to properly show NO_CALL alleles
-- getGenotypeString in Genotype returns "NA" instead of null for ploidy == 0 genotypes
2012-06-14 16:42:33 -04:00
Mark DePristo ea1b699778 Cleanup the interface for BCF2FieldEncoder
-- Now uses a much clearer approach.  Update all user classes to new interface
2012-06-14 16:42:33 -04:00
Mark DePristo dd6aee347a Genotype encoding uses the BCF2FieldEncoder system 2012-06-14 16:42:33 -04:00
Mark DePristo 9ac4203254 GenotypeAnnotations now accept a GenotypeBuilder and directly update the builder with their value
-- Cleans up interface and avoids significant amounts of gross typing code
2012-06-14 16:42:32 -04:00
Mark DePristo 7506994d09 Nearing final BCF commit
-- Cleanup some (but not all) VCF3 files.  Turns out there are lots so...
-- Refactored gneotype parser from VCFCodec and VCF3Codec into a single shared version in AbstractVCFCodec.  Now VCF3 properly handles the new GenotypeBuilder interface
-- Misc. bugfixes in GenotypeBuilder
2012-06-14 16:42:32 -04:00
Mark DePristo 6272612808 Testing utility to perform diffs N times 2012-06-14 16:42:32 -04:00
Mark DePristo 8014178f2f Algorithmically faster version of DiffEngine
-- Now only includes leaf nodes in the summary, i.e., summaries of the form "*.*....*.X", which are really the most valuable to see.  This calculation can be accomplished in linear time for N differences, rather than the previous O(n^2) algorithm
-- Now computes the max number of elements to read correctly.  Counts now the size of the entire element tree, not just the count of the roots, which was painful because the trees vary by orders of magnitude in size.
-- Because of this we can enforce a meaningful, useful value for the max elements in MD5 or 100K, and this works well.
-- Added integration test for new leaf and old pairwise calculations
-- Bugfix for Utils.join(sep, int[]) that was eating the first element of the AD, PL fields
2012-06-14 16:42:30 -04:00
Mark DePristo 2a86b81a3f Initial version of clean, fast formatting routines built dynamically from a VCF header
-- BCFFieldEncoder and writers divide up the task of formatting values (atomic or vector, ints, strings, floats, etc) from the task of writing these out at the sites or genotypes level.
-- Allows us to create efficient encoders for specific combinations of header fields, such as int[] encoded values with exactly 3 values
-- Currently only used for INFO fields, but subsequent commit will include optimized genotype field encoder
-- Allowed us to naturally support encoding of lists of strings
-- Bugfixes in VariantContextUtils introduced in genotype -> genotypebuilder conversion
-- Fixes for integration test failures
-- Enabling contig updates
-- WalkerTest now prints out relative paths where possible to make cut/paste/run easier
2012-06-14 16:42:30 -04:00
Mark DePristo 51a3b6e25e No more makePrecisionFormatStringFromDenominatorValue
-- As values in VCs are becoming their native Java types the VCFWriter needs to own proper float formating.
-- Created a smart float formatter in VCFWriter, with unit tests
-- Removed makePrecisionFormatStringFromDenominatorValue and its uses
-- Fix broken contracted
-- Refactored some code from the encoder to utils in BCF2
-- HaplotypeCaller's GenotypingEngine was using old version of subset to context.  Replaced with a faster call that I think is correct. Ryan, please confirm.
2012-06-14 16:42:30 -04:00
Mark DePristo 43ad890fcc Finalizing BCF2 v2
-- FastGenotypes are the default in the engine.  Use --useSlowGenotypes engine argument to return to old representation
-- Cleanup of BCF2Codec.  Good error handling.  Added contracts and docs.
-- Added a few more contacts and docs to BCF2Decoder
-- Optimized encodePrimitive in BCF2Encoder
-- Removed genotype filter field exceptions
-- Docs and cleanup of BCF2GenotypeFieldDecoders
-- Deleted unused BCF2TestWalker
-- Docs and cleanup of BCF2Types
-- Faster version of decodeInts in VCFCodec
-- BCF2Writer
    -- Support for writing a sites only file
    -- Lots of TODOs for future optimizations
    -- Removed lack of filter field support
    -- No longer uses the alleleMap from VCFWriter, which was a Allele -> String, now uses Allele -> Integer which is faster and more natural
    -- Lots of docs and contracts
-- Docs for GenotypeBuilder.  More filter creation routines (unfiltered, for example)
-- More extensive tests in VariantContextTestProfiler, including variable length strings in genotypes and genotype filters.  Better genotype comparisons
2012-06-14 16:42:29 -04:00
Mark DePristo 37e5d32019 Remove logger.info statement 2012-06-14 16:42:29 -04:00
Mark DePristo 01ddf9555a Performance optimizations for Genotype field decoding for GT field
-- Fast path decoder for biallelic diploid GT fields that avoids allocating the same genotypes over and over
-- Contracts
-- final classes
2012-06-14 16:42:28 -04:00
Mark DePristo 7fbca7013e Don't add missing value binding from field to Genotype object in VCF3Codec 2012-06-14 16:42:28 -04:00
Mark DePristo 4a4d3cde3d UnitTests for decodeIntArray method 2012-06-14 16:42:27 -04:00
Mark DePristo 5b8bd81991 An option to not actually write out the results of select variants
-- Useful for performance testing of the SV operations themselves.
2012-06-14 16:42:26 -04:00
Mark DePristo 6f7a01e00d Bugfix for BCF2 reader / writer for > 0x0FFF samples :-)
-- Should be 0x00FFFFFF in the mask
2012-06-14 16:42:26 -04:00
Mark DePristo 1d4eb46606 Efficient reading of genotype fields v1
-- decodeIntArray in BCF2 decoder allows us to more efficiently read ints and int[] from stream directly into Genotype object
-- Code cleanup / contracts added were appropriate
-- V2 will have a yet more optimized path...
2012-06-14 16:42:26 -04:00
Mark DePristo 37b8d70321 Hidden option to SelectVariants to force the genotypes information to be decoded by computing AC 2012-06-14 16:42:25 -04:00
Mark DePristo 17fbd103d0 Smarter infrastructure to decode genotypes in BCF
-- Eliminated the large intermediate map from field name to list of list<Integer> values needed to create genotypes without the GenotypeBuilder.  The new code is cleaner and simply fills in an array of GenotypeBuilders as it moves through the column layout in BCF2
-- Now we create once decoders specialized for each GT field (GT, AD, etc) that can be optimized for putting data into the GenotypeBuilder.  In a subsequent commit these will actually use lower level BCF2 decoders to create the low-level ints and int[], avoiding the intermediate List<Integer> form
-- Reduced the amount of data further to be computed in the DiffEngine.  The DiffEngine algorithm needs to be rethought to be efficient...
2012-06-14 16:42:25 -04:00
Mark DePristo 889e3c4583 Code cleanup before major refactor 2012-06-14 16:42:25 -04:00
Mark DePristo cebd37609c Finalizing new Genotype object and associated routines
-- Builder now provides a depreciated log10pError function to make a new GQ value
-- Genotype is an abstract class, with most of the associated functions implemented here and not in the derived Fast and Slow versions
-- Lots of contracts
-- Bugfixes throughout
2012-06-14 16:42:25 -04:00
Mark DePristo 8b0a629a31 Terrible bugfix
-- The way I was handling the contig offset ordering wasn't correct.  Now the contigs are always indexed in the order in which their corresponding populate() functions are called, so that the order of the contigs is given by the order in which they are in the file, or in our refDict.  It has nothing to do with the contig index itself.
-- SelectVariants no longers prints all samples to the screen if you aren't selecting any explicitly
2012-06-14 16:42:24 -04:00
Mark DePristo d37a8a0bc8 Efficient Genotype object Intermediate commit
-- Created a new Genotype interface with a more limited set of operations
-- Old genotype object is now SlowGenotype.  New genotype object is FastGenotype.  They can be used interchangable
-- There's no way to create Genotypes directly any longer.  You have to use GenotypeBuilder just like VariantContextBuilder
-- Modified lots and lots of code to use GenotypeBuilder
-- Added a temporary hidden argument to engine to use FastGenotype by default.  Current default is SlowGenotype
-- Lots of bug fixes to BCF2 codec and encoder.
-- Feature additions
  -- Now properly handles BCF2 -> BCF2 without decoding or encoding from scratch the BCF2 genotype bytes
  -- Cleaned up semantics of subContextFromSamples.  There's one function that either rederives or not the alleles from the subsetted genotypes

-- MASSIVE BUGFIX in SelectVariants.  The code has been decoding genotypes always, even if you were not subsetting down samples.  Fixed!
2012-06-14 16:42:24 -04:00
Mark DePristo a648b5e65e First step towards an efficient Genotype object
-- Created new clean FastGenotype and GenotypeBuilder classes with contracts to enforce expected behavior and correctness.  Tested utility of this approach by rewritting -- and then commenting out -- a path in BCF2Codec that could use this new code.  Much cleaner interface now, but not yet hooked up to anything
-- Disabled SHADOW_BCF generation and generating contigs in the output VCFs automatically to ensure that the current code bases integration tests, before switching the code to new Genotype class
-- Code cleanup.  Moved "AD" to VCFConstants under GENOTYPE_ALLELIC_DEPTHS.  Uses in code replaced with constant
2012-06-14 16:42:23 -04:00
Mark DePristo ff9ac4b5f8 BCF2 genotype decoding is now lazy
-- Refactored BCF2Codec into a LazyGenotypesDecoder object that provides on-demand genotype decoding of BCF2 data blocks a la VCFCodec.
-- VCFHeader has getters for sampleNamesInOrder and sampleNameToOffset instead of protected variables directly accessed by vcfcodec
2012-06-14 16:42:23 -04:00
Mark DePristo 9eb83a0771 Enable adding contigs to VariantContextWriters on output 2012-06-14 16:42:23 -04:00
Mark DePristo b0ea14ef0f VCFHeader getMetaData returns 4.1 version not 4.0 2012-06-14 16:42:22 -04:00
Mauricio Carneiro 7d12429917 First step towards indel qualities in RR
Let the BI's and BD's pass through the reduce reads machinery
2012-06-14 15:37:39 -04:00
Mauricio Carneiro e68038c5d8 Refactor post-processing downsampling using David's generic downsampler interface 2012-06-14 15:37:32 -04:00
Eric Banks de5508fcea Bug fixes for cycle and context covariates 2012-06-14 13:01:14 -04:00
Eric Banks 5c3c6cbc40 Long -> long conversions in BQSR 2012-06-14 09:07:02 -04:00
Eric Banks 29a74908bb The next round of BQSR optimizations: no more Long[] array creation 2012-06-14 00:05:42 -04:00
Guillermo del Angel cd2074b1dc Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-13 20:59:30 -04:00
Guillermo del Angel 92669a0468 Second intermediate commit for indel pool caller - now works (more or less) in reference sample-free mode. Still needs a lot of cleanups/add more tests and not done w/refactoring quite yet 2012-06-13 20:59:17 -04:00
David Roazen 0550b27799 Make downsampler classes themselves generic (instead of just the Downsampler interface)
This is in response to a request from Mauricio to make it easier
to use the downsamplers with GATKSAMRecords (as opposed to SAMRecords)
without having to do any cumbersome typecasting. Sadly, Java
language limitations make this sort of solution the best choice.

Thanks to Khalid for his feedback on this issue.

Also:

-added a unit test to verify GATKSAMRecord support with no typecasting required

-added some unit tests for the FractionalDownsampler that Mauricio will/might be using

-moved classes from private to public to better sync up with my local development
branch for engine integration
2012-06-13 16:43:39 -04:00
Guillermo del Angel 67c0569f9c Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-13 11:50:00 -04:00
Eric Banks 81993b08e2 Don't put null entries into the key array 2012-06-13 11:43:44 -04:00
Roger Zurawicki bdf5945dcc Fixed bugs in DiagnoseTargets
DT would not report bad mates!
that has been fixed

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-06-13 11:15:26 -04:00
Roger Zurawicki 538cdf9210 Created the FindCoveredIntervals
Moved some stuff in the DiagnoseTargets walker to the more general ThresHolder class
Minor tweaks
FindCoveredIntervals supports Gathering
FindCoveredIntervals outputs an interval list instead of GATKReport

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-06-13 11:15:25 -04:00
Guillermo del Angel aee66ab157 Big UG refactoring and intermediate commit to support indels in pool caller (not done yet). Lots of code pulled out of long spaghetti-like functions and modularized to be easily shareable. Add functionality in ErrorModel to count indel matches/mismatches (but left part disabled as not to change integration tests in this commit), add computation of pool genotype likelihoods for indels (not fully working yet in more realistic cases, only working in artificial nice pools). Lot's of TBD's still but existing UG and pool SNP functionality should be intact 2012-06-13 11:14:44 -04:00
Eric Banks 37f56ce8fd A couple of minor updates to BQSR 2012-06-12 16:12:13 -04:00
Eric Banks 277493dd83 Yet more instances of Lists changed over to native arrays 2012-06-12 15:56:09 -04:00
Eric Banks 613badc835 Very minor optimizations for the context covariate 2012-06-12 15:47:32 -04:00
Eric Banks 0f79adb2aa Changing more Java Lists to native arrays in BQSR for performance optimization. 2012-06-12 15:41:01 -04:00
Eric Banks 1da3e43679 Wow, apparently it's way, way less efficient to iterate over Java Lists than native arrays. With this change and the bit fiddling, Ryan's 10-day test case now runs in 1 day. More to come. 2012-06-12 13:32:56 -04:00
Eric Banks fec0bd5e11 Fixing UG argument docs 2012-06-12 09:46:16 -04:00
Eric Banks a4defdfb29 Adding a GT header line to SomaticIndelDetector output 2012-06-12 09:39:17 -04:00
Eric Banks 891ce51908 Refactoring of BQSRv2 to use longs (and standard bit fiddling techniques) instead of Java BitSets for performance improvements. 2012-06-12 09:19:36 -04:00
Eric Banks ff5749599d Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-11 15:46:17 -04:00
Eric Banks fea625632f Don't use asList because it maintains an iterator to the original list and then the result can't be used to create a new one 2012-06-11 15:45:58 -04:00
Ryan Poplin e4d371dc80 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-11 10:38:50 -04:00
Ryan Poplin 683d4b508e Bug fix in fragment utils: the read name wasn't being set in the merged read. Misc minor updates to the HaplotypeCaller. 2012-06-11 10:38:35 -04:00
Mauricio Carneiro 4aad7e23ef New ReduceReads v2 with unclipped variant regions and soft-clipped bases
* Re-wrote the sliding window approach to allow the variant region not to clip the reads that overlap it.
   * Updated consensus to include only reads that were not passed on by the variant region, header counts are updated on the fly to avoid recompute
   * Added soft clipped bases to ReduceReads analysis by unclipping high quality soft-clips then re-clipping after reduce reads
   * Updated all integration tests
2012-06-08 14:58:31 -04:00
Eric Banks afa9b2718a Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-08 13:54:48 -04:00
Eric Banks 92280b4068 BQSR optimization: cache the BitSetUtils.bitSetFrom() calls since they are called over and over again with the same values. Another 10% reduction in runtime. 2012-06-08 13:54:37 -04:00
Eric Banks 898a0e6161 Minor optimizations 2012-06-08 12:07:58 -04:00
Ryan Poplin 0a37e19998 Bug fix in VQSR so that the VCF index will be created for the recalFile. 2012-06-08 11:51:28 -04:00
Eric Banks d463ab2cbf BQSR optimization: String manipulation is extremely expensive in Java (accounts for 8% of BQSR runtime). Instead use byte[] and StringBuilder when possible. 2012-06-08 10:42:42 -04:00
Eric Banks 2bd48a7351 Bad comments made it into the previous commit 2012-06-07 23:12:56 -04:00
Eric Banks 31c3a6be48 BQSR optimization: getRequiredCovariates() and getOptionalCovariates() were creating a new List every time they were being called, and unfortunately getRequiredCovariates().size() is used as the stop condition in for-loops throughout the code. Just maintaining the original list of covariates results in a 15% reduction in runtime for BQSR. 2012-06-07 20:04:10 -04:00
Eric Banks 0fb9179f76 BQSR optimization: don't clone the original quals for each read, we can just overwrite the original array 2012-06-07 19:41:03 -04:00
Ryan Poplin d449f169d3 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-07 10:56:55 -04:00
Ryan Poplin 0b4281fdd0 misc minor update to HC debug output for when there are a lot of samples 2012-06-07 10:56:41 -04:00
Eric Banks bad50a1b05 Fix docs 2012-06-06 22:45:38 -04:00
Eric Banks b093ba9dcc Stabilized NGSPlatform code: don't assume all reads have read groups (e.g. artificial SAM records) 2012-06-06 15:17:30 -04:00
Eric Banks 54f682a99c Unify to NGSPlatform framework. TechnologyComposition annotation now generalizes to Illumina and not just SLX. 2012-06-06 11:44:37 -04:00
Eric Banks dd46d843fb IR should skip Ion reads just like it does with 454 reads; Tim has confirmed that official platform name for Ion. 2012-06-06 11:04:55 -04:00
Guillermo del Angel 2cbd6e5f90 Merged bug fix from Stable into Unstable 2012-06-05 15:58:23 -04:00
Guillermo del Angel ce4dc2128d Adding minor clarification to -mbq argument documentation 2012-06-05 15:17:56 -04:00
Eric Banks e02ec8c8b6 Don't update the record ID unless we are actually going to emit the record 2012-06-04 14:58:50 -04:00
Eric Banks 8405156ae1 Refactored VariantsToTable so that 1) genotype-level fields can be specified (stabilized and supported code) and 2) the --moltenize argument could be supported to produce molten output of the data. Added tests that cover these capabilities. 2012-06-04 14:28:32 -04:00
Ryan Poplin f11e7ebc3a Fixing the previous fix related to clipping. Adding extra reference padding in the HaplotypeCaller to get those larger alleles during GGA. 2012-06-04 12:49:36 -04:00
Ryan Poplin 320956ee4b Bug fix in clipping function in ReadUtils for when the read ends at exactly the clipping boundary. Bug fixes in HaplotypeCaller GGA mode for when Smith-Waterman produces a different allele than what was given in the input alleles VCF. GGA mode now works with multiallelic records. Adding min pruning factor argument which is combined with the pruning factor that is determined dynamically by the coverage. 2012-06-04 10:55:36 -04:00
Guillermo del Angel 7a54baf08c Merged bug fix from Stable into Unstable 2012-06-03 08:42:08 -04:00
Guillermo del Angel 47df7bbc14 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/stable 2012-06-03 08:38:54 -04:00
Guillermo del Angel 2ddbdee3bc Fixed broken VariantEval stratifications VariantType and IndelSize - integration tests to follow 2012-06-03 08:38:38 -04:00
Mauricio Carneiro 12a8c54f9a Fixing VCF header for filter elements (thanks Eric) 2012-06-01 15:45:15 -04:00
Eric Banks 3a15ba2102 Malformed VCF headers should be User Errors 2012-05-31 16:05:53 -04:00
Khalid Shakir c4f7df4dce When an underlying exception occurs because of the user error, if the exception instance does not include a message instead of telling the user "because null", tell them "because <exception class name>". 2012-05-30 16:39:06 -04:00
Ryan Poplin 421d0d1435 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-30 15:21:35 -04:00
Ryan Poplin 5dd811f84a Adding genotype given alleles mode to the HaplotypeCaller. 2012-05-30 15:07:01 -04:00
Eric Banks d09b8d5584 Fixing docs 2012-05-30 13:24:08 -04:00
Mauricio Carneiro d6e1205310 Updating default values for DiagnoseTargets 2012-05-30 12:43:07 -04:00
Khalid Shakir c3c7f17d90 Updated hard limit MathUtils.MAXN number of samples from 11,000 to 50,000.
Instead of creating a supposed network temporary directory locally which then fails when remote nodes try to access the non-existant dir, now checking to see if they network directory is available and throwing a SkipException to bypass the test when it cannot be run.
TODO: Throw similar SkipExceptions when fastas are not available. Right now instead of skipping the test or failing fast the REQUIRE_NETWORK_CONNECTION=false means that the errors popup later when the networked fastas aren't found.
2012-05-29 11:18:22 -04:00
Roger Zurawicki b8b139841d DiagnoseTargets with working Q1,Median,Q3
- Merged Roger's metrics with Mauricio's optimizations
 - Added Stats for DiagnoseTargets
     - now has functions to find the median depth, and upper/lower quartile
     - the REF_N callable status is implemented
 - The walker now runs efficiently
 - Diagnose Targets accepts overlapping intervals
 - Diagnose Targets now checks for bad mates
 - The read mates are checked in a memory efficient manner
 - The statistics thresholds have been consolidated and moved outside of the statistics classes and into the walker.
 - Fixed some bugs
 - Removed rod binding

Added more Unit tests

 - Test callable statuses on the locus level
 - Test bad mates

 - Changed NO_COVERAGE -> COVERAGE_GAPS to avoid confusion

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-05-29 10:16:45 -04:00
Eric Banks 50031b63c5 Fix possible NPE from NBaseCount annotation module 2012-05-29 09:46:00 -04:00
Mark DePristo 454c8e63e6 Made GQ an int, not a float. Updated VC code and lots of corresponding MD5s
-- VCFWriter / codec now passes the same rigorous UnitTest as the BCF2 writer / codec.  As part of this we now can only test doubles for equivalence in VCFs to 1e-2 (not exactly impressive)
2012-05-28 20:20:05 -04:00
Mark DePristo 7ce24a96f1 PBT now uses getGenotypeLikelihoodString to avoid NPE when there are no PLs present 2012-05-28 20:18:16 -04:00
Mark DePristo 1818c29371 Fixed long-standing bug in beagle codec that was passing on the header record for decoding 2012-05-28 20:17:26 -04:00
Mark DePristo 5894d045cb Bugfixes and code cleanup throughout so BCF2 passes VC -> BCF -> VC tests
-- This version of BCF should actually work properly for most files, assuming headers are properly defined.
-- Lots of bug fixes to BCF2 codec
-- Genotype getPhredScaledQual is now an int, returning -1 if there's no QUAL.  NOTE THIS SEMANTICS change
-- Equals() method for GenotypeLikelihoods, using PLs.
-- VCFCodec now longer adds empty bindings to missing input field values.  NOTE THIS CHANGE
-- VCs can be marked as fully decoded, so that when fullyDecode() is called it returns itself, instead of doing the decoding work.  The BCF2 codec now makes VCs marked as fully decoded
-- stringToBytes returns empty list for null or "" string in BCF2Encoder
-- Proper handling of genotype ordering in BCF2 reader / writer
-- Removed the crazy slow noDups and sameSamples tests that were slowing down unit and integration tests totally unnecessarily
-- Many failing MD5s now due to double -> int change in GQ, will update later
2012-05-27 11:17:17 -04:00
Mark DePristo 86e5a066fc Even more conservative limit on number of differences to summarize at 1000 2012-05-27 11:17:13 -04:00
Mark DePristo 31f4e5b52e Stop unlimited runtimes in DiffEngine when you have lots of differences
-- Added a new parameter to control the maximum number of pairwise differences to generate, which previously could expand to a very large number when there were lots of differences among genotypes, resulting in a n^2 algorithm running with n > 1,000,000
2012-05-27 11:17:13 -04:00
Mauricio Carneiro 4109fcbb08 Merged bug fix from Stable into Unstable 2012-05-25 13:03:05 -04:00
Mauricio Carneiro 2be5704a25 Fixed haplotype boundary bug in PairHMMIndelErrorModel
haplotypes were being clipped to the reference window when their unclipped ends went beyond the reference window. The unclipped ends include the hard clipped bases, therefore, if the reference window ended inside the hard clipped bases of a read, the boundaries would be wrong (and the read clipper was throwing an exception).

   * updated code to use SoftEnd/SoftStart instead of UnclippedEnd/UnclippedStart where appropriate.
   * removed unnecessary code to remove hard clips after processing.
   * reorganized the logic to use the assigned read boundaries throughout the code (allowing it to be final).
2012-05-25 13:00:45 -04:00
Guillermo del Angel 175bb35e70 Made TandemRepeatAnnotator standard annotation. HRun no longer standard (superceded by former) 2012-05-25 12:56:23 -04:00
Mark DePristo 7280cdf937 Bugfixes and testdata cleanup
-- Cut down the size of a few large files in public/testdata that were only used in part
-- Refactor vcf Filename => shadow BCF filename to BCF2Utils.  Fix bug in WalkerTest due to the way this was handled previously
2012-05-24 13:26:05 -04:00
Mark DePristo e9c22b9aad Final updates to integration tests for BCF2
-- Fully working version
-- Use -generateShadowBCF to write out foo.bcf as well as foo.vcf anywhere you use -o foo.vcf
-- Moved MedianUnitTest to its proper home in Utils
-- Added reportng to ivy and testng, so build/report/X/html/ is a nicely formatted output for Unit and Integration tests.  From this website it's easy to see md5 diffs, etc.  This is a vastly better way to manage unit and integration test output
2012-05-24 10:58:59 -04:00
Mark DePristo ade1843818 Bugfix for not setting header in AbstractVCFCodec 2012-05-24 10:58:58 -04:00
Mark DePristo 6ca71fe3b4 GATK tests use public/testdata not /humgen/ as much as possible 2012-05-24 10:58:58 -04:00
Mark DePristo 69ee4d0454 Moved getMetaDataForField to VariantContextUtils 2012-05-24 10:57:09 -04:00
Mark DePristo f77d2e6965 Renamed NO_HEADER to the more accurate no_cmdline_in_header
-- Also no_cmdline_in_header permits us to write contigs into the header, so that the shadow BCF system can work as well
2012-05-24 10:57:08 -04:00
Mark DePristo 4bde24f020 Bugfix for VCFWriter in the case where there are no genotypes in the VC but genotypes in the header 2012-05-24 10:57:08 -04:00
Mark DePristo 4846bf5c8e @Hidden --also_generate_bcf engine argument produces both VCF and BCF files for -o my.vcf
-- Going to be useful going forward for integration tests so they will generate both VCF and BCF files automatically
2012-05-24 10:57:07 -04:00
Mark DePristo bb0d87666a Finally just deleted equals() method in GATKArgumentCollection.
-- We never compare these things in the codebase anyway...
2012-05-24 10:57:07 -04:00
Mark DePristo c8ed0bfc4c Edge case fixes for BCF2
--handle entirely missing GT in a sample in decodeGenotypeAlleles
--Create MAX_ALLELES_IN_GENOTYPES constant in BCF2Utils, and extracted its use inline from the code
-- Generalized genotype writing code to handle ploidy != 2 and variable ploidy among samples
-- Remove special case inline treatment of case where all samples have no GT field values, and moved this into calcVCFGenotypeKeys
-- Removed restriction on getPloidy requiring ploidy > 1.  It's logically find to return 0 for a no called sample
-- getMaxPloidy() in VC that does what it says
-- Support for padding / depadding of generic genotype fields
2012-05-24 10:57:06 -04:00
Mark DePristo 40431890be -- BCF2 is now a reference dependent codec so it can initialize the contigs in the case where the file doesn't have contigs in it
-- BCF2 writer can now work without the contig lines being in the header
-- Made GenomeLocParser a final class
2012-05-24 10:57:06 -04:00
Mark DePristo 6301572009 GenotypeLikelihood PLs are capped at Short.MAX_INT now
-- UserExceptions in BCF2 now where appropriate
-- Asserts for code safety
-- Public -> protected encode(Object v) method is for testing only
2012-05-24 10:57:06 -04:00
Mark DePristo d52bc31a47 Bugfix for doNotWriteGenotypes mode
-- Was outputing GT ./. in sites only mode.  Fixed
2012-05-24 10:57:05 -04:00
Mark DePristo 64d4238e2f 99% working version of BCF2 encoder / decoder
-- fixed final bugs with PL encoding / decoding
-- Ready for testing by other members of the group
-- Current performance numbers aren't so great, but they will improve in the next phase of BCF2 optimizations
-- Fixed a nasty bug in the filter field
-- Not that some (many?) GATK tools won't work with BCF because they internally assume values are Strings not their true types

Read 1500 genotypes file in VCF -> VCF : 11 seconds
Read 1500 genotypes file in VCF -> BCF : 9.5 seconds

VariantEval 1500 genotypes file in VCF : 3 seconds
VariantEval 1500 genotypes file in BCF : 3 seconds
2012-05-24 10:57:05 -04:00
Mark DePristo b5bce8d3f9 AD should be UNBOUNDED, actually
-- Pass in # alt alleles as appropriate for getCount in VCF header line
2012-05-24 10:57:05 -04:00
Mark DePristo aaf11f00e3 Near final BCF2 implementation
-- Trivial import changes in some walkers
-- SelectVariants has a new hidden mode to fully decode a VCF file
-- DepthPerAlleleBySample (AD) changed to have not UNBOUNDED by A type, which is actually the right type
-- GenotypeLikelihoods now implements List<Double> for convenience.  The PL duality here is going to be removed in a subsequent commit
-- BugFixes in BCF2Writer.  Proper handling of padding.  Bugfix for nFields for a field
-- padAllele function in VariantContextUtils
-- Much better tests for VariantContextTestProvider, including loading parts of dbSNP 135 and the Phase II 1000G call set with genotypes to test encoding / decoding of fields.
2012-05-24 10:57:02 -04:00
Mark DePristo dfee17a672 Generalize / unify code for handling strings
-- List<String> is converted inside of the codec to a collapsed string, and exploded in the decoder.
-- Unified the type conversion code in BCFWriter to simply the mapping from VCF type => BCF type and special value recoding
-- Code cleanup and renaming
2012-05-24 10:57:02 -04:00
Mark DePristo b4a5acd6f4 Added some genotype tests for BCF2, which all pass. Of course that's because I commented out the ones that didn't 2012-05-24 10:57:01 -04:00
Mark DePristo 373ae39e86 Testing of BCF codec
-- Rev.d tribble
-- Minor code cleanup
-- BCF2 encoder / decoder use Double not Float internally everywhere
-- Generalized VC testing framework
2012-05-24 10:57:01 -04:00
Mark DePristo fb1911a1b6 -- Convenience constructor for VariantContextBuilder that creates a new one based on an existing builder
-- Convenience routine for creating alleles from strings of bases
-- Convenience constructor for VCFFilterHeader line whose description is the same as name
-- VariantContextTestProvider creates all sorts of types of VariantContexts for testing purposes.  Can be reused throughtout code for BCF, VCF, etc.
-- Created basic BCF2WriterCodec tests that consumes VariantContextTestProvider contexts, writes them to disk with BCF2 writer, and checks that they come back equals to the original VariantContexts. Actually worked for some complex tests in the first go
2012-05-24 10:57:01 -04:00
Mark DePristo 4968dcd36a Throw an error when genotype fields with mixed vector lengths are encountered 2012-05-24 10:57:00 -04:00
Mark DePristo afd2f1a3f9 Individual VariantContextWriters are now package protected
-- Added VCFHeader() constructor that makes an empty header, and updated VariantRecalibrator to use it
-- Update build.xml to build vcf.jar with updated paths and bcf2 support.
2012-05-24 10:57:00 -04:00
Mark DePristo 24864fd5b0 GATK now writes BCF output to any file with .bcf extension
-- Moved VCF and BCF writers to variantcontext.writers
-- Updated vcf.jar build path
-- Refactored VCFWriter and other code.  Now the best (and soon to be only) way to create these files is through a factory method called VariantContextWriterFactory.  Renamed the general VCFWriter interface to VariantContextWriter which is implemented by VCFWriter and BCF2Writer.
2012-05-24 10:57:00 -04:00
Mark DePristo e2311294c0 Removed unused ManualSortingVCFWriter 2012-05-24 10:56:59 -04:00
Mark DePristo 93cef82637 BCF2 header encoding decoding at final spec 2012-05-24 10:56:58 -04:00
Mark DePristo ce9e9eebb1 No dictionary in header. Now built dynamically from the header in the writer and codec
-- Created BCF2Utils and moved BCF2Constants and TypeDescriptor methods there
2012-05-24 10:56:58 -04:00
Mark DePristo c3b8048e2e Moving around classes in VCF and BCF2
-- Refactored VCF writers into vcf.writers package
-- Moved BCF2Writer to bcf2.writer
-- Updates to all of the walkers using VCFWriter to reflect new packages
-- A large number of files had their headers cleaned up because of this as well
2012-05-24 10:56:58 -04:00
Mark DePristo 679ffdd333 Move BCF2 from private utils to public codecs 2012-05-24 10:56:56 -04:00
Mark DePristo 450f098a61 BCF2 encoder / decoder implement new site / genotype block organization
-- Supports final organization of data blocks into sites data and genotypes data
2012-05-24 10:56:55 -04:00
Mark DePristo 27b51d4dea Enable on the fly indexing of BCF2 2012-05-24 10:56:54 -04:00
Mark DePristo 81bd7646d6 Fix for MISSING floats
-- Restructured code to separate the MISSING value in java (currently everywhere a null) from the byte representation on disk (an int).
-- Now handles correctly MISSING qual fields
2012-05-24 10:56:53 -04:00
Mark DePristo 3afbc50511 More BCF2 improvements
-- Refactored setting of contigs from VCFWriterStub to VCFUtils.  Necessary for proper BCF working
-- Added VCFContigHeaderLine that manages the order for sorting, so we now emit contigs in the proper order.
-- Cleaned up VCFHeader operations
-- BCF now uses the right header files correctly when encoding / decoding contigs
-- Clean up unused tools
-- Refactored header parsing routines to make them more accessible
-- More minor header changes from Intellij
2012-05-24 10:56:52 -04:00
Mark DePristo 0799855479 Archiving GCF
-- Rider update to CramByPiece.scala
2012-05-24 10:56:51 -04:00
Guillermo del Angel 43919078cd Merged bug fix from Stable into Unstable 2012-05-23 21:21:01 -04:00
Guillermo del Angel 4bc04e2a9e Correct way in which start/stop positions in a VC are computed when creating an indel VC. Old way was incorrect in case GENOTYPE_GIVEN_ALLELES was specified with a complex record. New way should work in general for all cases and is simpler. 2012-05-23 21:19:30 -04:00
Ryan Poplin 08dfd6cab6 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-21 16:47:07 -04:00
Ryan Poplin 04000d920c Bug fix in BadCigar read filter for index out of bounds exception when used with a bam file that contains unmapped reads. 2012-05-21 16:46:59 -04:00
Eric Banks 666862af19 Added @Hidden option for GSA production use to cap the max alleles for indels at a lower number than for SNPs 2012-05-21 16:03:29 -04:00
Khalid Shakir e57cd78bba Killed two more resource leakers that ignored requests to close wrapped file pointers, and added Unit Tests for each.
This bug will happen in all adapter/wrapper classes that are passed a resource, and then in their close method they ignore requests to close the wrapped resource, causing a leak when the adapter is the only one left with a reference to the resource.

Ex:

public Wrapper getNewWrapper(File path) {
  FileStream myStream = new FileStream(path); // This stream must be eventually closed.
  return new Wrapper(myStream);
}

public void close(Wrapper wrapper) {
  wrapper.close(); // If wrapper.close() does nothing, NO ONE else has a reference to close myStream.
}
2012-05-21 15:41:56 -04:00
Eric Banks 7f5ec17d22 Fixed up the comments in the GATKReportTable code and added some sanity checks to make sure that the user doesn't inconsistently add rows and corresponding IDs to the table. 2012-05-21 14:16:13 -04:00
Eric Banks 92d8aa3d4c Don't exception out in these VE modules if the VCF has records that aren't just SNPs or indels 2012-05-21 09:38:52 -04:00
Eric Banks 3af3834d50 Fixing 2 bugs in the SAMRecord printing argument descriptor code (as reported by Kristian):
* For some reason, the original implementor decided to use Booleans instead of booleans and didn't always check for null so we'd occasionally get a NPE.  Switched over to booleans.
* We'd also generate a NPE if SAMRecord writing specific arguments (e.g. --simplifyBAM) were used while writing to sdout.
2012-05-18 11:55:41 -04:00
Eric Banks 52c206d5db Has anyone else ever noticed that the DiffEngine outputs were always doubled for some reason? That no longer happens with the new reports. 2012-05-18 02:32:20 -04:00
Eric Banks 03d40272c8 Removed old GATKReport code and moved the new stuff in its place. 2012-05-18 01:44:31 -04:00
Eric Banks a26b04ba17 Extensive refactoring of the GATKReports. This was a beast.
The practical differences between version 1.0 and this one (v1.1) are:

* the underlying data structure now uses arrays instead of hashes, which should drastically reduce the memory overhead required to create large tables.
* no more primary keys; you can still create arbitrary IDs to index into rows, but there is no special cased primary key column in the table.
* no more dangerous/ugly table operations supported except to increment a cell's value (if an int) or to concatenate 2 tables.

Integration tests change because table headers are different.
Old classes are still lying around.  Will clean those up in a subsequent commit.
2012-05-18 01:11:26 -04:00
Guillermo del Angel 5189b06468 New annotation for indels that describe if they're STR's and their characteristics. If an indel is a STR, 3 fields are added to INFO: STR (boolean), RU = repeat unit (String), RPA = number of repetitions per allele. So, for example, if ATATAT* context gets changed to ATAT and ATATATAT, then RU=AT and RPA=3,2,4. Will be made standard annotation shortly. Added unit tests for new functionality. Pending: refactor VariantContextUtils.isRepeat() to unify code, and fix VariantEval functionality. 2012-05-17 15:28:19 -04:00
Eric Banks 0f7c917e7a Better error checking and messages for bad alleles 2012-05-17 13:36:42 -04:00
Eric Banks d44886d9e8 Very naughty bug: VE output is not at all gatherable but no one told this to Queue. Fixed. 2012-05-15 10:29:04 -04:00
Eric Banks 819c3d0c15 Adding to the Hrun docs 2012-05-15 10:27:52 -04:00
Guillermo del Angel 5fc3adbb04 One more VariantsToTable bug fix 2012-05-14 14:10:07 -04:00
Guillermo del Angel 04d691f04a Forgot to update MD5's due to new Exact AF model in pool caller (all changes legit, minor QUAL/QD/SB differences). Fixed bug in VariantsToTable from previous commit 2012-05-14 14:01:29 -04:00
Guillermo del Angel ae26f0fe14 a) Fully functional and working multiallelic exact model for pools. Needs cleanup/more testing. b) Better unit test for pool genotype likelihoods - it now optionally generates actual noisy pileups that can be used for assessing GL accuracy, c) Totally experimental, hidden option in VariantsToTable to output genotype fields. Specifying -GF will output columns of form Sample.FieldName - needs also more testing 2012-05-14 10:55:35 -04:00
Ryan Poplin c9dd0f3173 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-10 13:09:10 -04:00
Ryan Poplin 0cdadffe14 Committing the best of the frantic pre-CSHL experiments: Better algorithm for partioning reads amongst the alleles they support. Require the read's original alignment to actually overlap the variant. QD uses the non-informative reads when calculating D. More HC-specific annotations for potential use in a statistical filtering strategy. Increasing the minimum kmer length in the assembly graphs. Misc minor bug fixes. 2012-05-10 13:09:03 -04:00
Guillermo del Angel 27b1aa5dd3 Don't allow N's in insertions when discovering indels. Maybe better solution will be to use them as wildcards and merge them with compatible regular insertion alleles but for now it's easier to ignore them. Minor refactoring of Allele.accepableAlleleBases to support this. Added unit test to test consensus allele counter in presence of N's 2012-05-10 10:29:19 -04:00
Eric Banks 4f37d6d399 Fixing docs 2012-05-10 00:56:00 -04:00
Mark DePristo c81acfc15d Working implementation of BCF2
-- Nearly complete on spec implementation.  Slow but clean
-- Some refactoring of VariantContext to support common functions for BCF and VCF
2012-05-08 19:46:51 -04:00
Mark DePristo a5193c2399 Mostly complete reference implementation of BCF2
-- Can run VariantEval on 3000 sample exome VCF and get the same output as the original VCF
2012-05-08 19:46:51 -04:00
Eric Banks 473d07b0c5 fixing up docs from previous Pool Caller commit 2012-05-08 11:02:55 -04:00
Eric Banks b4999d14c1 updating docs 2012-05-08 10:58:46 -04:00
Guillermo del Angel 33a1dd2048 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-08 10:42:12 -04:00
Eric Banks 5cf4fd63c2 Catch malformed base qualities and throw as a User Error 2012-05-08 09:34:57 -04:00
Guillermo del Angel a4f4b5007b Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-08 09:34:33 -04:00
Guillermo del Angel 605984353f Pool Caller improvements: a) New non-standard private annotation Heteroplasmy which measures mean heteroplasmy (pool AF) across called samples, meant for easier mtDNA calling. Pure homoplasmic variants (pool AF = 1 or 0) would have heteroplasmy=1. b) Don't output pool genotypes by default for large pool sizes because it makes file sizes explode and they're unreadable. c) Refactored classes ExactACCounts and ExactACSet and moved to superclass AlleleFrequencyCalculationModel because both Pool and Exact AF calculation models will use it. d) Initial refactorings and skeleton for linearized multi-allelic exact model (not done yet). e) Unit test for Pool AF calculation model. 2012-05-08 09:33:38 -04:00
Eric Banks c40cda7e3c Nope, loads of integration tests had to be changed. 2012-05-07 14:30:42 -04:00
Eric Banks 66838a073e Very annoying: we have been emitting an extra TAB in the header of the VCF (which breaks some parsers) for sites-only file. Hopefully not too many integration tests will need to be fixed... 2012-05-07 12:20:11 -04:00
David Roazen 6b769e91d8 BCF2: third checkpoint
* writer mostly implemented
* walkers to convert BCF2 <-> VCF
* almost working for sites-only files; genotypes still need work
* initial performance tests this afternoon will be on sites-only files
2012-05-04 13:00:15 -04:00
Eric Banks f3433201b1 Merged bug fix from Stable into Unstable 2012-05-03 11:11:00 -04:00
Eric Banks 557da77a1a Don't compute QD if there is no QUAL; added integration test for this 2012-05-03 11:02:37 -04:00
Eric Banks 1fc7b5d58b Merged bug fix from Stable into Unstable 2012-05-03 10:37:58 -04:00
Laurent Francioli 567d01cee8 - Added option to output the father's allele first in phased child haplotypes - BUG corrected causing wrong phasing of child/father pairs
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-05-03 10:36:49 -04:00
Laurent Francioli 96e5a26223 PED support for Inbreeding Coefficient annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-05-03 10:36:20 -04:00
Mark DePristo 43d97c2e00 Rev Tribble to r97, adding binary feature support
From tribble logs:

Binary feature support in tribble

-- Massive refactoring and cleanup
-- Many bug fixes throughout
-- FeatureCodec is now general, with decode etc. taking a PositionBufferedStream
as an argument not a String
-- See ExampleBinaryCodec for an example binary codec
-- AbstractAsciiFeatureCodec provides to its subclass the same String decode,
readHeader functionality before.  Old ASCII codecs should inherit from this base
class, and will work without additional modifications
-- Split AsciiLineReader into a position tracking stream
(PositionalBufferedStream).  The new AsciiLineReader takes as an argument a
PositionalBufferedStream and provides the readLine() functionality of before.
Could potentially use optimizations (its a TODO in the code)
-- The Positional interface includes some more functionality that's now
necessary to support the more general decoding of binary features
-- FeatureReaders now work using the general FeatureCodec interface, so they can
index binary features
-- Bugfixes to LinearIndexCreator off by 1 error in setting the end block
position
-- Deleted VariantType, since this wasn't used anywhere and it's a particularly
clean why of thinking about the problem
-- Moved DiploidGenotype, which is specific to Gelitext, to the gelitext package
-- TabixReader requires an AsciiFeatureCodec as it's currently only implemented
to handle line oriented records
-- Renamed AsciiFeatureReader to TribbleIndexedFeatureReader now that it handles
Ascii and binary features
-- Removed unused functions here and there as encountered
-- Fixed build.xml to be truly headless
-- FeatureCodec readHeader returns a FeatureCodecHeader obtain that contains a
value and the position in the file where the header ends (not inclusive).
TribbleReaders now skip the header if the position is set, so its no longer
necessary, if one implements the general readHeader(PositionalBufferedStream)
version to see header lines in the decode functions.  Necessary for binary
codecs but a nice side benefit for ascii codecs as well
-- Cleaned up the IndexFactory interface so there's a truly general createIndex
function that takes the enumerated index type.  Added a writeIndex() function
that writes an index to disk.
-- Vastly expanded the index unit tests and reader tests to really test linear,
interval, and tabix indexed files.  Updated test.bed, and created a tabix
version of it as well.
-- Significant BinaryFeaturesTest suite.
-- Some test files have indent changes
2012-05-03 07:31:48 -04:00
Mark DePristo 58c470a6c5 Rev'ing Tribble from 53 to 94
-- Other tribble contributors did major refactoring / simplification of tribble, which required some changes to GATK code
-- Integrationtests pass without modification, though some very old index files (callable loci beds) were apparently corrupt and no longer tolerated by the newer tribble codebase
2012-05-03 07:31:47 -04:00
Khalid Shakir b8b7f28aa9 Revving Picard to pick up new SamFileHeaderMerger.
Updated ReadFilter abstract class to implement (via UnsupportedOperationException) the new SamRecordFilter.filterOut().
In IndelRealignerIntegrationTest updates for Picard fixes to SAMRecord.getInferredInsertSize() in svn r1115 & r1124.
- Ran FixMates to create new input BAM since running IR with variable maxReadsInMemory means all reads weren't realigned leading to different outputs.
- Updated md5s to match new expectations after looking at TLEN diff engine output.
2012-05-02 16:47:28 -04:00
Mauricio Carneiro f51a1d0d61 Better error message to the BAMScheduler
In the case where the BAM file was aligned using a reference but analysis is being attempted with a different reference.
2012-05-02 16:10:00 -04:00
Mauricio Carneiro 940029fa5d Fixing on-the-fly recalibration (caught by Ryan)
low quality bases in the tails were being turned to N's in the final read.
2012-05-02 16:06:04 -04:00
Eric Banks 623b36fbc4 Add header lines for AC,AF, and AN tags 2012-05-02 15:33:34 -04:00
Guillermo del Angel 429800a192 Fix corner case rounding issue in MathUtils unit test: 10^logFactorial(4)) was 23.999999... which if cast directly yielded 23 - so, do pre-rounding to ensure correct integer result if caller will cast value. 2012-05-02 09:57:06 -04:00
Guillermo del Angel 76a95fdedf Full implementation of multiallelic exact model for pools. Still super-linear so not useable at scale but it should be a gold standard to compare to. Unit tests are not exhaustive yet, will be expanded to provide better test coverage. Small inconsequential optimization in MathUtils: we're already caching log10(factorial(n)) for large n, so might as well use the cached values to compute binomial and multinomial coefficients instead of the log-gamma approximation which is more expensive (doesn't seem to save much time either in PoolCaller nor in UG though). 2012-05-02 09:24:28 -04:00
Joel Thibault 4d732fa586 Move all MongoDB files into private/java/src/org/broadinstitute/sting/mongodb 2012-05-01 18:23:51 -04:00
Eric Banks 619a69a5f1 As promised in the release notes for 1.6, I am removing the old deprecated genotyping framework revolving around the misordering of alleles and have moved the fixed version in its place in preparation for release 1.7 (or 2.0?). 2012-05-01 16:18:24 -04:00
Joel Thibault c255dd5917 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-01 16:10:38 -04:00
Ryan Poplin 51af61b5d7 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-01 16:07:23 -04:00
Ryan Poplin fc55dcec3c Unfortunately the reverse trimming of alleles still doesn't work with mixed records in some corner cases. Turning it off for now. 2012-05-01 16:02:36 -04:00
Ryan Poplin 20a0078f23 Merging active regions across shard boundries if they are contiguous, have the same active status and don't grow too big. 2012-05-01 15:51:36 -04:00
Eric Banks 0f3af9555b Adding an option to SelectVariants which allows the user to re-genotype through the exact model (if PLs are present) the samples in order to recalculate the QUAL and genotypes. This is really the correct way to select a subset of samples, especially when originally called from low coverage data. Also added integration test to cover this case. 2012-05-01 14:58:06 -04:00
Joel Thibault aa4d41cce0 Minor cleanup before push 2012-05-01 14:16:44 -04:00
Joel Thibault b101b9c30b Add Mongo switch 2012-05-01 14:00:48 -04:00
Joel Thibault 1b609e9075 Move Mongo to server couchdb 2012-05-01 13:59:47 -04:00
Joel Thibault fd57d27f45 Move MongoDB connection handling to a separate class 2012-05-01 13:59:37 -04:00
Joel Thibault db3cd1abd5 Use 2 MongoDB collections (tables): one for INFO/attributes, one for samples/genotypes. 2012-05-01 13:57:23 -04:00
Joel Thibault 04e1be9106 Better handling of Mongo errors + exceptions 2012-05-01 13:57:23 -04:00
Joel Thibault ca737479cf Query for stop locations because we don't have that information in the reference 2012-05-01 13:57:23 -04:00
Joel Thibault 1cda87a4ad Set ROD priority list to input 2012-05-01 13:57:23 -04:00
Joel Thibault a7fe847faf Set the priority list and don't bother combining if not needed 2012-05-01 13:57:23 -04:00
Joel Thibault f739305f43 Combine the variants found at a location 2012-05-01 13:57:23 -04:00
Joel Thibault 020f884d5a Use new key of source ROD plus alleles 2012-05-01 13:57:23 -04:00
Joel Thibault 221ce9c3d6 Add alleles to the primary key 2012-05-01 13:57:23 -04:00
Joel Thibault 3198ce5471 Can have multiple variants at a location 2012-05-01 13:57:22 -04:00
Joel Thibault 11ed8e61c9 Add referenceBaseForIndel to the Mongo VariantContext objects 2012-05-01 13:53:44 -04:00
Joel Thibault 7ed0ee7ed0 Skip locations with no genotypes instead of throwing a NPE 2012-05-01 13:53:44 -04:00
Joel Thibault 4bdfeacdaa Handle multiple samples/genotypes per location
TODO: sample selection
2012-05-01 13:53:43 -04:00
Joel Thibault 1f7c628796 Insert the ROD filename into MongoDB as part of the primary key 2012-05-01 13:53:43 -04:00
Joel Thibault bb8a6e9b0a Initial test of write and read from MongoDB 2012-05-01 13:53:43 -04:00
David Roazen c0084c741b Pilot BCF2 Implementation: Checkpointing the code
* Not working yet, still very much a work-in-progress with lots of placeholders
* Needed to check this in to enable possible collaboration, since it's
  going slower than anticipated and the conference deadline looms.
2012-05-01 12:23:10 -04:00
Christopher Hartl 7d029b9a28 Merge branch 'master' of ssh://ni.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-30 12:16:30 -04:00
Christopher Hartl 944a7d815e Bringing VQSRV3 up to date. Lots of new features (un-classifying the worst-performing training sites, treating the x% best/worst sites as postive/negative points, ability to pass in a monomorphic track to see ROC curves output). Minor changes to AlleleBalance: weighted average was incorrectly specified (using logscale actually biased the average towards the AB of low-quality genotypes), and breaking out AB by het, hom, and diploid to bring it in line with some (private) changes to the indel likelihood model that (correctly) computes these values for indels. 2012-04-28 11:31:03 -04:00
Ryan Poplin 54a9bc2da2 Bug fix in reverse trim alleles for the case of mixed records that become non-mixed after subsetting the alleles. 2012-04-28 09:12:26 -04:00
Ryan Poplin e332aeaf70 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-27 16:21:21 -04:00
Ryan Poplin 2b5dd28550 Bug fix in reverse trim alleles for the case of mixed records. 2012-04-27 16:21:02 -04:00
Mauricio Carneiro 1db2d1ba82 Do not add the first and last 4 cycles to the recalibration tables. 2012-04-27 15:18:07 -04:00
Mauricio Carneiro 08dbd756f3 Quick QC walkers to look at the error profile of indels in the read 2012-04-27 15:18:07 -04:00
Guillermo del Angel 730208133b Several fixes and improvements to Pool caller with ancillary test functions (not done yet):
a) Utility class called Probability Vector that holds a log-probability vector and has the ability to clip ends that deviate largely from max value.
b) Used this class to hold site error model, since likelihoods of error model away from peak are so far down that it's not worth computing with them and just wastes time.
c) Expand unit tests and add an exhaustive test for ErrorModel class.
d) Corrected major math bug in ErrorModel uncovered by exhaustive test: log(e^x) is NOT x if log's base = 10.
e) Refactored utility functions that created artificial pileups for testing into separate class ArtificialPileupTestProvider. Right now functionality is limited (one artificial contig of 10 bp), can only specify pileups in one position with a given number of matches and mismatches to ref) but functionality will be expanded in future to cover more test cases.
f) Use this utility class for IndelGenotypeLikelihoods unit test and for PoolGenotypeLikelihoods unit test (the latter testing functionality still not done).
g) Linearized implementation of biallelic exact model (very simple approach, similar to diploid exact model, just abort if we're past the max value of AC distribution and below a threshold). Still need to add unit tests for this and to expand to multiallelic model.
h) Update integration test md5's due to minor differences stemming from linearized exact model and better error model math
2012-04-27 14:41:17 -04:00
Eric Banks 0439047269 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-27 10:49:45 -04:00
Eric Banks 05b44dd017 The genotypeCounts array wasn't always being initialized before it was accessed, leading to a NPE (which got caught and thrown as a JEXL expression when used in selection). Added unit test to cover all genotype count methods. 2012-04-27 10:49:36 -04:00
Khalid Shakir 9801dd114f Bug fix for: https://getsatisfaction.com/gsa/topics/problem_with_indelrealigner_and_l_unmapped
The GATK -L unmapped is for GenomeLocs with SAMRecord.NO_ALIGNMENT_REFERENCE_NAME, not SAMRecord.getReadUnmappedFlag()
Previously unmapped flag reads in the last bin were being printed while also seeking for the reads without a reference contig.
2012-04-27 09:58:38 -04:00
Guillermo del Angel 972d6531b6 Corner case fix for indel GL computation: sometimes (depending on surrounding context) reads which are not informative of two candidate haplotypes end up having marginally higher likelihoods with one haplotype as opposed to another, depending on uncertainty on alignments in surrounding regions. So, a sample whose GL is -0.0001,-0.0005,-0.001 may have its genotype set to 1/1 due to this statistical noise. We already have a tolerance comparing max(gl)-min(gl) to avoid genotyping, so this tolerance is now increased from 0.001 to 0.1 (equivalent to 1 PL unit) to avoid genotyping a sample if all PLs are within this threshold. Changed 2 integration test md5s that hit this case. 2012-04-26 10:15:26 -04:00
Laurent Francioli 219b0a128b PED support for ChromosomeCounts annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:50:04 -04:00
Laurent Francioli 19d5213d5a Added function to get founders IDs in SampleDB
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:49:36 -04:00
Mauricio Carneiro 902277856e fix for RBP getPileupsForSamples()
do not differentiate per sample pileups from generic pileups. Do the same for both -- it's O(n) either way.
2012-04-24 17:20:30 -04:00
Mauricio Carneiro 82b4798913 CountBasesWalker -- a quick QC walker. 2012-04-24 17:20:30 -04:00
Mauricio Carneiro e440d0ce69 BQSR triage #4
* fixed queue script plot file names
   * updated the ReadGroupCovariate to use the platform unit instead of sample + lane.
   * fixed plotting of marginalized reported qualities
2012-04-24 17:19:54 -04:00
Eric Banks d6277b70d8 Forgot to consider the optimized case in hasAllele 2012-04-24 11:32:28 -04:00
Eric Banks 91bad244d5 Using a VCF whose ALT is the reference in GGA mode is a User Error 2012-04-24 11:08:37 -04:00
Eric Banks 74ad008163 Adding VariantContext.hasAlternateAllele functionality 2012-04-24 11:07:46 -04:00
Eric Banks 66f3315548 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-24 09:39:55 -04:00
Eric Banks bcb93dda5f Fixing docs (rank sum test values are not phred-scaled) 2012-04-24 09:39:42 -04:00
Mauricio Carneiro e39a59594a BQSR triage and test routines
* updated BQSR queue script for faster turnaround
   * implemented plot generation for scatter/gatherered runs
   * adjusted output file names to be cooperative with the queue script
   * added the recalibration report file to the argument table in the report
   * added ReadCovariates unit test -- guarantees that all the covariates are being generated for every base in the read
   * added RecalibrationReport unit test -- guarantees the integrity of the delta tables
2012-04-23 11:23:00 -04:00
Eric Banks a733723439 Merged bug fix from Stable into Unstable 2012-04-23 10:30:30 -04:00
Eric Banks 2761da975e Handle null VCs (which can arise when indels are present in the file) 2012-04-23 10:30:00 -04:00
Eric Banks 63aa79df82 Slightly better error message 2012-04-23 09:37:28 -04:00
Eric Banks 7b5fbf9567 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-23 09:34:08 -04:00
Eric Banks 4edb005411 Catch poorly formatted PL/GL fields 2012-04-23 09:33:50 -04:00
Ryan Poplin 35bb55f562 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-22 13:23:36 -04:00
Ryan Poplin 18e4532d10 Turning down the amount of assembly graph pruning slightly in the case of low coverage. 2012-04-22 13:23:24 -04:00
Eric Banks 1f23d99dfa If we are subsetting alleles in the UG (either because there were too many or because some were not polymorphic), then we may need to trim the alleles (because the original VariantContext may have had to pad at the end). Thanks to Ryan for reporting this. Only one of the integration tests had even partially covered this case, so I added one that did. 2012-04-20 17:00:05 -04:00
Eric Banks 4b81c75642 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-20 14:30:19 -04:00
Eric Banks f1c5510ec0 When running SelectVariants with the excludeNonVariants option, remove alleles from the ALT field that are no longer polymorphic. 2012-04-20 14:30:04 -04:00
Ryan Poplin a1596791af Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-20 14:03:04 -04:00
Ryan Poplin a57295eb75 Fixing a bug when breaking up active regions where the resulting regions would overlap by one base. Adding quality score manipulation from the UG into the haplotype caller (qual capped by mapping quality, min qual threshold). 2012-04-20 14:02:55 -04:00
Guillermo del Angel de68363c23 Removed experimental feature (aka hack) that was meant for 1000G consensus but remained in VQSR data manager - QD was being scaled by indel length. There's no evidence any more that QD is length-dependent, neither in CEU trio data nor in latest 1000G P2 calls 2012-04-20 10:58:34 -04:00
Guillermo del Angel d2488dfb81 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-19 19:40:03 -04:00
Guillermo del Angel c44c7b9a97 Restored optimization in Pair HMM only to compute HMM matrices starting in index where haplotypes start to diverge - saves about 15-20% of runtime which is what we lost by disabling banding in latest version, so runtime should be now about the same as what it was before refactoring. Output is bit-true to previous commit 2012-04-19 19:39:43 -04:00
Mauricio Carneiro 0f8c77391d BQSR bug triage #3
* fixed context covariate famous "off by one" error
   * reduced maximum quality score to Q50 (following Eric/Ryan's suggestion)
   * remove context downsampling in BQSR R script
2012-04-19 17:31:04 -04:00
Khalid Shakir df5dd841af AC strat now checks if evals will be merged before throwing an error on multiple eval files.
Minor tweaks to WGP script based on new recal VCF format.
2012-04-19 16:08:55 -04:00
Guillermo del Angel 1ae2ab5b63 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-19 12:50:29 -04:00
Guillermo del Angel 0e6e0cb907 Merging bug fixes 2012-04-19 12:49:30 -04:00
Eric Banks 79272c5e15 Thanks to Menachem for pointing out that the docs for genotyping_mode and output_mode were the same (and unclear). Fixed. 2012-04-19 12:48:09 -04:00
Guillermo del Angel 02ff930f6a My changes 2012-04-19 12:45:18 -04:00
Eric Banks 2485cef5b8 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-19 11:46:06 -04:00
Eric Banks 76a6e37f4f Don't output callability metrics by default anymore; one can still have them output to the 'metrics' file (which is now @Hidden because they are really for GSA use). Added a TODO to move UG from @By reference to reads and rods once LIBS is cleaned up. 2012-04-19 11:45:56 -04:00
Ryan Poplin 1ea4e48a27 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-19 11:32:32 -04:00
Ryan Poplin 11001ab9a2 Adding option to HaplotypeCaller to genotype the events on the chosen haplotypes as independent events. The filtered reads are now kept around so they can be passed to the variant annotations. Unfortunately the filtered reads aren't assigned a likelihood yet so they are all thrown in the Allele.NO_CALL bin. 2012-04-19 11:32:10 -04:00
Mauricio Carneiro eb22cd7222 Unit test to guarantee BQSR sequential calculation accuracy
This test brings together the old and the new BQSR, building a recalibration table using the two separate frameworks and performing the recalibration calculation using the two different frameworks for 10,000+ bases and asserting that the calculations match in every case.
2012-04-19 09:33:40 -04:00
Mauricio Carneiro 68d0211fa1 Improved BQSR plotting and some new parameters
* Refactored CycleCovariate to be a fragment covariate instead of a per read covariate
   * Refactored the CycleCovariateUnitTest to test the pairing information
   * Updated BQSR Integration tests accordingly
   * Made quantization levels parameter not hidden anymore
   * Added hidden option to keep intermediate plotting files for debug purposes (they're automatically deleted)
   * Added hidden option not to generate the plots automatically (important for scatter/gathering)
2012-04-19 09:31:41 -04:00