Commit Graph

534 Commits (5a4e2a5fa4d7ee7c6d7773d261eebc8a3ff349f1)

Author SHA1 Message Date
Christopher Hartl 6b9987cf1b Merge branch 'master' of gsa2:/humgen/gsa-scr1/chartl/dev/unstable 2012-10-12 00:48:42 -04:00
Eric Banks 36a26a7da6 md5s failed because I forgot to add --no_cmdline_in_header so it is different depending on where you run from. Fixed. 2012-10-07 08:35:55 -04:00
Eric Banks a5aaa14aaa Fix for GSA-601: Indels dropped during liftover. This was a true bug that was an effect of the switch over to the non-null representation of alleles in the VariantContext. Unfortunately, this tool didn't have integration tests - but it does now. 2012-10-07 01:19:52 -04:00
Eric Banks 5d6aad67e2 Fix for bug reported on forums: VariantsToTable does not handle lists and nested arrays correctly. Added an integration test to cover printing of PLs. 2012-10-07 00:01:27 -04:00
Eric Banks e7798ddd2a Fix for JIRA GSA-598: AD field not handled properly by CombineVariants. It was also not handled by SelectVariants either. We now strip the AD field out whenever combining/selecting makes it invalid due to a changing of the number of ALT alleles. 2012-10-06 23:02:36 -04:00
Eric Banks e8a6460a33 After merging with Yossi's fix I can confirm that the AD is fixed when going through the HC too. Added similar fixes to DP and FS annotations too. 2012-10-05 16:37:42 -04:00
Yossi Farjoun dc4dcb4140 fixed AD annotation for a ReducedReads BAM file. Added an integration test for this case with a new reduced BAM in private/testdata 2012-10-05 14:20:07 -04:00
Mark DePristo b6e20e083a Copied DiploidExactAFCalc to placeholder OptimizedDiploidExact
-- Will be removed.  Only commiting now to fix public -> private dependency
2012-10-03 20:16:38 -07:00
Mark DePristo f6a2ca6e7f Fixes / TODOs for meaningful results with AFCalculationResult
-- Right now the state of the AFCaclulationResult can be corrupt (ie, log10 likelihoods can be -Infinity).  Forced me to disable reasonable contracts.  Needs to be thought through
-- exactCallsLog should be optional
-- Update UG integration tests as the calculation of the normalized posteriors is done in a marginally different way so the output is rounded slightly differently.
2012-10-03 19:55:12 -07:00
Mark DePristo 50e4a832ea Generalize framework for evaluating the performance and scaling of the ExactAF models to tri-allelic variants
-- Wow, big performance problems with multi-allelic exact model!
2012-10-03 19:55:11 -07:00
Mark DePristo 17ca543937 More ExactModel cleanup
-- UnifiedGenotyperEngine no longer keeps a thread local double[2] array for the normalized posteriors array.  This is way heavy-weight compared to just making the array each time.
-- Added getNormalizedPosteriorOfAFGTZero and getNormalizedPosteriorOfAFzero to AFResult object.  That's the place it should really live
-- Add tests for priors, uncovering bugs in the contracts of the tri-allelic priors w.r.t. the AC of the MAP.  Added TODOs
2012-10-03 19:55:11 -07:00
Mark DePristo f8ef4332de Count the number of evaluations in AFResult; expand unit tests
-- AFResult now tracks the number of evaluations (turns through the model calculation) so we can now compute the scaling of exact model itself as a function of n samples
-- Added unittests for priors (flat and human)
-- Discovered nasty general ploidy bug (enabled with Guillermo_FIXME)
2012-10-03 19:55:11 -07:00
Mark DePristo 33c7841c4d Add tests for non-informative samples in ExactAFCalculationModel 2012-10-03 19:55:11 -07:00
Mark DePristo de941ddbbe Cleanup Exact model, better unit tests
-- Added combinatorial unit tests for both Diploid and General (in diploid-case) for 2 and 3 alleles in all combinations of sample types (i.e., AA, AB, BB and equiv. for tri-allelic).  More assert statements to ensure quality of the result.
-- Added docs (DOCUMENT YOUR CODE!) to AlleleFrequencyCalculationResult, with proper input error handling and contracts.  Made mutation functions all protected
-- No longer need to call reset on your AlleleFrequencyCalculationResult -- it'd done for you in the calculation function.  reset is a protected method now, so it's all cleaner and nicer this way
-- TODO still -- need to add edge-case tests for non-informative samples (0,0,0), for the impact of priors, and I need to add some way to test the result of the pNonRef
2012-10-03 19:55:11 -07:00
Mark DePristo 3e01a76590 Clean up AlleleFrequencyCalculation classes
-- Added a true base class that only does truly common tasks (like manage call logging)
   -- This base class provides the only public method (getLog10PNonRef) and calls into a protected compute function that's abstract
   -- Split ExactAF into superclass ExactAF with common data structures and two subclasses: DiploidExact and GeneralPloidyExact
   -- Added an abstract reduceScope function that manages the simplification of the input VariantContext in the case where there are too many alleles or other constraints require us to only attempt a smaller computation
   -- All unit tests pass
2012-10-03 19:55:11 -07:00
Christopher Hartl 1be8a88909 Changes:
1) GATKArgumentCollection has a command to turn off randomization if setting the seed isn't enough. Right now it's only hooked into RankSumTest.
 2) RankSumTest now can be passed a boolean telling it whether to use a dithering or non-randomizing comparator. Unit tested.
 3) VariantsToBinaryPed can now output in both individual-major and SNP-major mode. Integration test.
 4) Updates to PlinkBed-handling python scripts and utilities.
 5) Tool for calculating (LD-corrected) GRMs put under version control. This is analysis for T2D, but I don't want to lose it should something happen to my computer.
2012-10-03 16:02:42 -04:00
Christopher Hartl 2508b0f5a7 Merged bug fix from Stable into Unstable 2012-09-29 00:57:43 -04:00
Christopher Hartl 365f1d2429 hmk123's error on the forum came from the reference context occasionally lacking bases needed for validating the reference bases in the variant context. (no @Window for VariantsToBinaryPed). This bugfix adresses this and other minor items:
1) ValidateVariants removed in favor of direct validation VariantContexts. Integration test added to test broken contexts.
 2) Enabling indel and SV output. Still bi-allelic sites only. Integration tests added for these cases.
 3) Found a bug where GQ recalculation (if a genotype has PLs but no GQ) would only happen for flipped encoding. Fixed. Integration test added.
2012-09-29 00:55:31 -04:00
Christopher Hartl 55cdf4f9b7 Commit changes in Variants To Binary Ped to the stable repository to be available prior to next release. 2012-09-27 00:13:32 -04:00
Eric Banks 25e3ea879a Oops, missed this test before when updating md5s 2012-09-22 22:16:35 -04:00
Eric Banks 1316b579f0 Bad news folks: BQSR scatter-gather was totally busted; you absolutely cannot trust any BQSR table that was a product of SG (for any version of BQSR). I fixed BQSR-gathering, rewrote (and enabled) the unit test, and confirmed that outputs are now identical whether or not SG is used to create the table. 2012-09-20 14:14:34 -04:00
Eric Banks 2e6f533996 Adding both unit and integration tests to cover the previous edge case of mismatched PLs 2012-09-20 11:55:28 -04:00
Christopher Hartl 5d19fca649 A couple of bug-fixy changes.
1) SelectVariants could throw a ReviewedStingException (one of the nasty "Bug:") ones if the user requested a sample that wasn't present in the VCF. The walker now
    checks for this in the initialize() phase, and throws a more informative error if the situation is detected. If the user simply wants to subset the VCF to
    all the samples requested that are actually present in the VCF, the --ALLOW_NONOVERLAPPING_COMMAND_LINE_SAMPLES flag changes this UserException to a Warning,
    and does the appropriate subsetting. Added integration tests for this.

 2) GenotypeLikelihoods has an unsafe method getLog10GQ(GenotypeType), which is completely broken for multi-allelic sites. I marked that method
    as deprecated, and added methods that use the context of the allele ordering (either directly specified or as a VC) to retrieve the appropriate GQ, and
    added a unit test to cover this case. VariantsToBinaryPed needs to dynamically calculate the GQ field sometimes (because I have some VCFs with PLs but no GQ).
2012-09-11 23:01:00 -04:00
Mark DePristo 0bd2a872fa Done GSA-282: Unindexed traversals crash if a read goes off the end of a contig
-- Already fixed in the codebase.  Added unindexed bam and integration tests to ensure this is fine going forward.
2012-09-05 21:10:03 -04:00
Mark DePristo 0892f2b8b2 Closing GSA-287:LocusReferenceView doesn't do very well in the case where contigs land off the end of the reference
-- Confirmed that reads spanning off the end of the chromosome don't cause an exception by adding integration test for a single read that starts 7 bases from the end of chromosome 1 and spans 90 bases or so off.  Added pileup integration test to ensure this behavior continues to work
2012-09-03 20:18:56 -04:00
Mark DePristo 39400c56a9 Update md5s for VQSR, as VQSLOD is now a double and gets the standard double precision treatment in VCF 2012-08-30 19:41:49 -04:00
Mark DePristo ce3d1f89ea ReadShard are no longer allowed to span multiple contigs
-- Previous behavior was unnecessary and causes all sorts of problems with RODs for reads.  The old implementation simply failed in this case.  The new code handles this correctly by forcing shards to have all of their data on a single contig.
-- Added a PrintReads integration test to ensure this behavior is correct
-- Adding test BAMs that have < 200 reads and span across contig boundaries
2012-08-30 10:15:11 -04:00
Mark DePristo 0f4acaae1b Update MD5s with new FS score 2012-08-28 08:06:47 -04:00
Christopher Hartl db2e88c7cb Fix for badIndelLength() throwing NPE at non-indel sites. Added integration test. 2012-08-25 12:38:23 -07:00
Christopher Hartl f1166d6d00 Spotted a potential bug where sample IDs passed in from the meta data were only checked against the sample IDs in the VCF header if the input file happened to be a meta data file rather than a fam file. Added a check for fam files as well, and added an integration test to cover each case. 2012-08-23 11:43:19 -07:00
Guillermo del Angel e29469eeeb Forgot to update 2 integration test md5's (in this cases, changes are legit because of the code revamp of AD, it's simpler if AD is not output when a site is not variant, as genotype DP conveys the same information) 2012-08-22 15:53:33 -04:00
Guillermo del Angel 901f47d8af Final step (for now) in VA refactoring: update MD5's because, a) since it's not guaranteed that we'll iterate through reads/pileups in the same order, the rank sum dithering will change annotations, b) FS uses new generic threshold to distinguish uninformative reads (it used to use ad-hoc thresholds), c) AD definition changed and throws away uninformative reads, d) shortened general ploidy integration tests for quicker debugging. May have missed some MD5's in the update so there may be lingering test failures still 2012-08-22 11:38:51 -04:00
Christopher Hartl ba8622ff0d number of stashed changes are lurking in here. In order of importance:
- Fix for M_Trieb's error report on the forum, and addition of integration tests to cover the walker.
 - Addition of StructuralIndel as a class of variation within the VariantContext. These are for variants with a full alt allele that's >150bp in length.
 - Adaptation of the MVLikelihoodRatio to work for a set of trios (takes the max over the trios of the MVLR)
 - InsertSizeDistribution changed to use the new gatk report output (it was previously broken)
 - RetrogeneDiscovery changed to be compatible with the new gatk report
 - A maxIndelSize argument added to SelectVariants
 - ByTranscriptEvaluator rewritten for cleanliness
 - VariantRecalibrator modified to not exclude structural indels from recalibration if the mode is INDEL
 - Documentation added to DepthOfCoverageIntegrationTest (no, don't yell at chartl ;_; )

Also sorry for the long commit history behind this that is the result of fixing merge conflicts. Because this *also* fixes a conflict (from git stash apply), for some reason I can't rebase all of them away. I'm pretty sure some of the commit notes say "this note isn't important because I'm going to rebase it anyway".
2012-08-21 07:08:58 -04:00
Mark DePristo 9121b98167 CombineVariants outputs the first non-MISSING qual, not the maximum
-- When merging multiple VCF records at a site, the combined VCF record has the QUAL of the first VCF record with a non-MISSING QUAL value.  The previous behavior was to take the max QUAL, which resulted in sometime strange downstream confusion.
2012-08-19 10:29:38 -04:00
Eric Banks 611d9b61e2 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-16 13:05:36 -04:00
Eric Banks 2df04dc48a Fix for performance problem in GGA mode related to previous --regenotype commit. Instead of trying to hack around the determination of the calculation model when it's not needed, just simply overload the calculateGenotypes() method to add one that does simple genotyping. Re-enabling the Pool Caller integration tests. 2012-08-16 13:05:17 -04:00
Mark DePristo a9a1c499fd Update md5 in VariantRecalibrationWalkers test for BCF2 -- only encoding differences 2012-08-16 13:03:13 -04:00
Mark DePristo c0a31b2e5b CombineVariants parallel integration tests
-- All tests but one (using old bad VCF3 input) run unmodified with parallel code.
-- Disabled UNSAFE_VCF_PROCESSING for all but that test, which changes md5s because the output files have fixed headers
-- Minor optimizations to simpleMerge
2012-08-15 21:13:16 -04:00
Mark DePristo ae4d4482ac Parallel combine variants!
-- CombineVariants is now TreeReducible!
-- Integration tests running in parallel all pass except one (will fix) due to incorrect use of db=0 flag on input from old VCF format
2012-08-15 21:13:15 -04:00
Eric Banks 87e41c83c5 In AlleleCount stratification, check to make sure the AC (or MLEAC) is valid (i.e. not higher than number of chromosomes) and throw a User Error if it isn't. Added a test for bad AC. 2012-08-14 15:02:30 -04:00
Eric Banks 8e3774fb0e Fixing behavior of the --regenotype argument in SelectVariants to properly run in GenotypeGivenAlleles mode. Added integration tests to cover recent SV changes. 2012-08-14 14:21:42 -04:00
Eric Banks 34b62fa092 Two changes to SelectVariants: 1) don't add DP INFO annotation if DP wasn't used in the input VCF (it was adding DP=0 previously). 2) If MLEAC or MLEAF is present in the original VCF and the number of samples decreases, remove those annotations from the VC. 2012-08-14 12:54:31 -04:00
Ami Levy Moonshine 4968daf0a5 update integration tests at CombineVariantsIntegrationTest 2012-08-10 16:58:05 -04:00
Mark DePristo cda8d944b7 Bugfixes for BCF with VQSR
-- Old version converted doubles directly from strings.  New version uses VariantContext getAttributeAsDouble() that looks at the values directly to determine how to convert from Object to Double (via Double.valueOf, (Double), or (Double)(Integer)).
-- getAttributeAsDouble() is now smart in converting integers to doubles as needed
-- Removed unnecessary logging info in BCF2Codec
-- Added integration tests to ensure that VQSR works end-to-end with BCF2 using sites version of the file khalid sent to me
-- Added vqsr.bcf_test.snps.unfiltered.bcf file for this integration test
2012-08-07 17:22:39 -04:00
Ryan Poplin 15085bf03e The UnifiedGenotyper now makes use of base insertion and base deletion quality scores if they exist in the reads. 2012-08-07 13:58:22 -04:00
Ryan Poplin 8817fc70d1 Merged bug fix from Stable into Unstable 2012-08-03 10:45:01 -04:00
Ryan Poplin f40d0a0a28 Updating VQSR to work with the MNP and symbolic variants that are coming out of the HaplotypeCaller. Integration tests change because of the MNPs in dbSNP. 2012-08-03 10:44:36 -04:00
Mark DePristo ccac77d888 Bugfix for incorrect allele counting in IndelSummary
-- Previous version would count all alt alleles as present in a sample, even if only 1 were present, because of the way VariantEval subsetted VCs
-- Updated code for subsetting VCs by sample to be clearer about how it handles rederiving alleles
-- Update a few pieces of code to get previous correct behavior
-- Updated a few MD5s as now ref calls at sites in dbSNP are counted as having a comp sites, and therefore show up in known sites when Novelty strat is on (which I think is correct)
-- Walkers that used old subsetting function with true are now using clearer version that does rederive alleles by default
2012-08-01 15:45:12 -04:00
Eric Banks ab53d73459 Quick fix to user error catching 2012-07-31 15:50:32 -04:00
Eric Banks 10111450aa Fixed AlignmentUtils bug for handling Ns in the CIGAR string. Added a UG integration test that calls a BAM with such reads (provided by a user on GetSatisfaction). 2012-07-31 15:37:22 -04:00