Commit Graph

1027 Commits (5a4e2a5fa4d7ee7c6d7773d261eebc8a3ff349f1)

Author SHA1 Message Date
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
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
Mark DePristo 5671992db3 RMDTrackBuilderUnitTest now uses private/testdata file to avoid filesystem race conditions 2012-07-25 22:05:04 -04:00
Mark DePristo 16947e93f2 Integration test to ensure VariantFiltration makes . -> PASS/FAIL like VQSR
Signed-off-by: Mark DePristo <depristo@broadinstitute.org>
2012-07-25 08:56:39 -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
Guillermo del Angel 39f45127f3 Fix md5's broken by recent changes to FisherStrand calculation 2012-07-21 14:41:38 -04:00
Mauricio Carneiro 65f4b67b86 Fixing walker unit test with the new naming convention 2012-07-20 17:50:29 -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
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
Eric Banks 5f5edeca63 Reverting move of BQSR tests to public, as per DR's email 2012-07-19 10:02:05 -04:00
Eric Banks 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
Eric Banks 9c1ab1b0c0 Move BQSR integration test and its dependent files into public; previously there was a protected->private dependency. 2012-07-18 21:11:33 -04:00
Mark DePristo 994c5c31c1 Enabling VariantEval integration tests for ValidationReport 2012-07-18 16:07:47 -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
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 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 52baac1e16 Move BQSRv2 into public and v1 into the archive. 2012-07-16 14:23:38 -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
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
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
Mauricio Carneiro e93b025b39 Fixing unit test
with the new clipping behavior for weird cigars, we no longer can assert the final number of bases in the unit test, so I'm taking this bit off the unit test.
2012-07-06 12:08:09 -04:00
Mauricio Carneiro 17efbbf8b1 Fixed ReadClipperUnitTest
The behavior of the clipping on weird cigar strings such as 1I1S1H and 9S56H has changed, and the test has to change accordingly.
2012-07-03 16:38:51 -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
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
Mark DePristo 1b0a775773 Disabling bcf2 reading from samtools because it's 1 basis; updating select variants integrationtest 2012-07-02 15:55:42 -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 602729c09d Moved parallel tests from SelectVariants to separate SelectVariantsParallelIntegrationTest
-- Enabled previous tests -- all now working
-- Added modern test against new VCF as well
2012-07-02 11:40:28 -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 9b87dcda4f Fixing remaining integration test errors. Adding missing ex2.bcf 2012-06-30 16:23:11 -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 86feea917e Updating MD5s to reflect new FT fixed count of 1 not UNBOUNDED 2012-06-30 11:22:47 -04:00
Mark DePristo 6bea28ae6f Genotype filters are now just Strings, not Set<String> 2012-06-30 11:22:47 -04:00
Mark DePristo 064cc56335 Update integration tests to reflect new FT header line standard and new DiagnoseTargets field names 2012-06-28 10:06:06 -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 016b25be87 Update annoying md5s in unit tests, also failing because of header fixing 2012-06-26 17:32:42 -04:00
Mark DePristo cd32b6ae54 CombineVariantsUnitTest was failing because the header repair was fixing the problem it wanted to detect 2012-06-26 17:32:42 -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 7ef5ce28cc VariantRecalibrator test currently doesn't work with shadowBCF 2012-06-26 15:28:34 -04:00
Mark DePristo 5f5885ec78 Updating many MD5s to reflect correct fixed headers
-- Previous bugfix ensures that header fixing is always on in the GATK by default, even after integration tests that failed and when through the VCFDiffableReader.  Updating md5s to reflect this.
2012-06-26 15:28:34 -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 0b5980d7b3 Added Heng's nasty ex2.vcf to standard tests 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 fb26c0f054 Update integration tests to reflect header changes 2012-06-26 15:28:32 -04:00
Mark DePristo 7b96263f8b Disable shadowBCF for VariantRecalibrationWalkers tests because it cannot handle symbolic alleles yet 2012-06-26 15:28:32 -04:00
Mark DePristo 6e9a81aabe Minor bugfix -- now that the testfile is in our testdata regenerate the idx file as needed to pass tests 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 d0cf8bcc80 Add unit tests for VariantContextBuilder.rmAttribute() and .attribute()
* These generated NPEs when the attribute object is null
2012-06-25 12:05:04 -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
Mark DePristo d17369e0ac A few misc. residual errors in last commit 2012-06-21 16:04:25 -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 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 0c8b830db7 Updating MD5s for inclusion of RPA field header 2012-06-21 15:16:26 -04:00
Mark DePristo d015a5738d Bugfixes for VCFWriterUnitTest and TestProvider to deal with stricter VCFWriter behavior 2012-06-21 15:16:26 -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
Eric Banks 15ae906f32 Once I was playing with integration tests it was simple to fix the ones I left broken from earlier today. 2012-06-18 21:54:58 -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
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
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 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 5c23ab0817 Final cleanup of VCFWriterUnitTest 2012-06-14 16:42:39 -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 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 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 dc07067265 Fix bug in incorrectly reporting relative paths in log 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 aa2178cc68 Updating MD5s to latest version to reflect inclusion of contigs in headers 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 dd6aee347a Genotype encoding uses the BCF2FieldEncoder system 2012-06-14 16:42:33 -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 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 6cfb2d1393 Restoring SelectVariantsIntegrationTest 2012-06-14 16:42:28 -04:00
Mark DePristo cfd1e50068 Minor updates to test code 2012-06-14 16:42:28 -04:00
Mark DePristo 54817f8d16 VCFHeaderUnitTest needed to be updated to reflect that we are doing VCF4.1 not VCF4.0 2012-06-14 16:42:28 -04:00
Mark DePristo 982192e2e4 MD5DB for integrationtest management now writes out a md5mismatches files for clean analysis
-- This file is in integrationtests/md5mismatches.txt, and looks like:

expected        observed        test
7fd0d0c2d1af3b16378339c181e40611        2339d841d3c3c7233ebba9a6ace895fd        test BeagleOutputToVCF
43865f3f0d975ee2c5912b31393842f8        1b9c4734274edd3142a05033e520beac        testBeagleChangesSitesToRef
daead9bfab1a5df72c5e3a239366118e        27be14f9fc951c4e714b4540b045c2df        testDiffObjects:master=/local/dev/depristo/itest/public/testdata/diffTestMaster.vcf,test=/local/dev/depristo/itest/public/testdata/diffTestTest.vcf,md5=daead9bfab1a5df72c5e3a239366118e

-- Associated cleanup with making md5db an instantiated object, rather than a bunch of static methods
2012-06-14 16:42:27 -04:00
Mark DePristo 249d5e5533 Better tests for Genotype parsing 2012-06-14 16:42:27 -04:00
Mark DePristo 4a4d3cde3d UnitTests for decodeIntArray method 2012-06-14 16:42:27 -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 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 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 8fc1a26ac7 Fixed comparison of VCFHeader as the set.equals() isn't working as expected 2012-06-14 16:42:22 -04:00
Mark DePristo 5fda16bea9 Enable shadow BCF2 2012-06-14 16:42:22 -04:00
Eric Banks 0398ae9695 I hate these disabled unit tests, #2 2012-06-14 15:19:27 -04:00
Eric Banks 676a57de7b I hate these disabled unit tests 2012-06-14 14:03:58 -04:00
Eric Banks 29a74908bb The next round of BQSR optimizations: no more Long[] array creation 2012-06-14 00:05:42 -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
Eric Banks bb77aa88c3 Drat, forgot the unit tests again 2012-06-12 19:00:47 -04:00
Eric Banks 37f56ce8fd A couple of minor updates to BQSR 2012-06-12 16:12:13 -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 a96c5da884 Oops, forgot to push the unit tests 2012-06-12 11:38:30 -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
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 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 5dd811f84a Adding genotype given alleles mode to the HaplotypeCaller. 2012-05-30 15:07:01 -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
Mark DePristo 08de4dfd96 Missed one integration test 2012-05-29 07:23:24 -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 06b02e1b9b Update MD5s to reflect new limited output of DiffObjectsWalkers
-- Also updated GQ change in VCFIntegrationTest
2012-05-27 11:20:47 -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
Guillermo del Angel a6ee4f98b5 Yet More missing md5's 2012-05-25 17:21:47 -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 d6df817174 Oops, don't enable shadow BCF tests 2012-05-24 13:31:13 -04:00
Mark DePristo 0a86564669 Updated test files didn't make it into last push 2012-05-24 13:29:44 -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 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 cb13f16e90 WalkerTest infrastructure to generate and test shadowBCF file for every generated VCF file
-- Currently disabled
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 6f469305ab Don't try to share BCF2 yet 2012-05-24 10:57:06 -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 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 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 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 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 f0b081a85f Update VCF.jar loading test
-- to reflect new path to VCFWriter
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
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 26968ae8eb Forgot that the VCFStreamingOntegrationTest uses VE 2012-05-18 02:51:53 -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
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
Guillermo del Angel 89f8a6b2e6 Revert bad part of last commit that shouldn't have been pushed 2012-05-10 10:41:08 -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 c40cda7e3c Nope, loads of integration tests had to be changed. 2012-05-07 14:30:42 -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
Eric Banks e448cfcc59 Forgot to update these md5s 2012-05-02 21:09:50 -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
Eric Banks 623b36fbc4 Add header lines for AC,AF, and AN tags 2012-05-02 15:33:34 -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
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
Eric Banks 0c8e801021 Removing public to private dependency 2012-05-01 11:04:11 -04:00
Eric Banks e964d17518 Removing public to private dependency 2012-05-01 11:02:28 -04:00
Mauricio Carneiro 462450c3e3 disabling all BQSR unit tests
with the changes to the cycle covariate, some tests need updates, others  need to be completely re-written.
2012-04-30 14:39:55 -04:00
Guillermo del Angel e185632013 Exhaustive unit tests for Pool SNP genotype likelihoods:
a) Add ability for ErrorModel to be specified by external log-probability vector for testing.
b) For a given depth and ploidy(=2*samples/pool), create artificial high quality pileup testing from AC=0 to AC=ploidy, and test that pool GL's have expected content.Misc. refactorings and cleanups
c) Misc. cleanups and beautification.
2012-04-30 14:29:46 -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 2f86ccb086 Correct md5's for previous code change 2012-04-26 16:20:41 -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 ab2a952ad1 PED support for Inbreeding Coefficient annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:56:47 -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 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
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 cd63bcb1b8 Fixing unit tests to register the user exception being thrown (instead of the NumberFormatException) 2012-04-23 10:06:51 -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
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 02ff930f6a My changes 2012-04-19 12:45:18 -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
Guillermo del Angel 143e92b797 Rebasing 2012-04-18 20:05:43 -04:00