Commit Graph

859 Commits (b46c85e8b40fbbb6740c8e117940c322c5c30a84)

Author SHA1 Message Date
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