Commit Graph

265 Commits (cb7fe3f8810ae27bbfa74d215cf914c369dbb522)

Author SHA1 Message Date
Mauricio Carneiro 468640476f Merge remote-tracking branch 'unstable/master' into develop 2012-10-27 13:50:03 -04:00
David Roazen 35483a7eef Update MD5s for PrintReads with BQSR Integration Test
The MD5s for these tests were changed in commit 87435f1074615b2cd016f042980109fd53962c8d
to match the output of a broken version of BaseRecalibration. With the patch in
commit c397102ecc1fd1d2cd8f209a8f358ab4a60b50a7, the output once again matches the
*original* MD5s for these tests, and does not vary as you increase -nct.

Final resolution to GSA-632
2012-10-26 14:25:25 -04:00
Eric Banks ed11b7dab2 Fix UG parallelization test 2012-10-26 12:10:44 -04:00
Eric Banks 7a706ed345 Fix some of the broken integration tests 2012-10-26 11:23:44 -04:00
Eric Banks b06f689d4b Merge branch 'master' of ssh://gsa2/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-26 02:13:26 -04:00
Eric Banks a53e03d525 Do not let reduced reads get removed in the contamination down-sampling 2012-10-26 02:13:04 -04:00
Eric Banks bf3d61ce82 The default value for --contamination_fraction_to_filter is now 0.05 (5%) in both UG and HC. Users of GATK-lite get pushed down to 0% by default (since it's not enabled) or get a user error if they try to set it. 2012-10-26 01:04:51 -04:00
Mark DePristo cc8c12b954 Committing a broken version of BaseRecalibration
-- I'm committing because there's some kind of fundamental problem with the ReadCovariates cache, in that historical data isn't being cleared / computed properly, and I'd rather it fail for a while than leave it in JIRA.
-- The integration tests test the -nct with PrintReads to get 1, 2, 4 and the 4 fails.  But that's because of this incorrect calculation
-- Updating GATKPerformanceOverTime with the new @ClassType annotation
2012-10-25 14:46:35 -04:00
Eric Banks df9e0b7045 Merge branch 'master' of ssh://gsa2/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-25 02:49:54 -04:00
Eric Banks 72714ee43e Minor patches to get the contamination down-sampling working for indels. Adding @Hidden logging output for easy debugging. 2012-10-25 02:47:42 -04:00
Eric Banks c6b57fffda Added allele biased down-sampling capabilities to the PerReadAlleleLikelihoodMap object, which means that both the UG and HC can use this functionality. Note that it's only available in protected, so GATK-lite users won't be allowed to enable it. Needs more testing. 2012-10-24 22:52:25 -04:00
Eric Banks 9da7bbf689 Refactoring the PerReadAlleleLikelihoodMap in preparation for adding contntamination downsampling into protected only. 2012-10-24 15:49:07 -04:00
David Roazen 02018ca764 Legacy BaseRecalibrator walker is neither TreeReducible nor NanoSchedulable
The old BaseRecalibrator walker is and never will be thread-safe, since it's a
LocusWalker that uses read attributes to track state.

ONLY the newer DelocalizedBaseRecalibrator is believed likely to be thread-safe
at this point. It is safe to run the DelocalizedBaseRecalibrator with -nct > 1
for testing purposes, but wait for further testing to be done before using it
for production purposes in multithreaded mode.
2012-10-24 15:22:50 -04:00
David Roazen 991658acf4 BQSR: use more granular locking for concurrency control
-With this change, BQSR performance scales properly by thread rather
 than gaining nothing from additional threads.
-Benefits are seen when using either -nt (HierarchicalMicroScheduler) or -nct
 (NanoScheduler)
-Removes high-level locks in the recalibration engines and NestedIntegerArray
 in favor of maximally-granular locks on and around manipulation of the leaf
 nodes of the NestedIntegerArray.
-NestedIntegerArray now creates all interior nodes upfront rather than on
 the fly to avoid the need for locking during tree traversals. This uses
 more memory in the initial part of BQSR runs, but the BQSR would eventually
 converge to use this memory anyway over the course of a typical run.

IMPORTANT NOTE: This does not mean it's safe to run the old BaseRecalibrator
walker with multiple threads. The BaseRecalibrator walker is and will never be
thread-safe, as it's a LocusWalker that uses read attributes to track
state information. ONLY the newer DelocalizedBaseRecalibrator can be made
thread-safe (and will hopefully be made so in my subsequent commits). This
commit addresses performance, not correctness.
2012-10-24 15:22:50 -04:00
Ryan Poplin a27ee26481 updating HC integration test. 2012-10-24 14:08:39 -04:00
Ryan Poplin 094db7bf24 We now require at least 10 samples to merge variants into complex events in the HC. Added a new population based bam for the complex event integration test. 2012-10-24 14:07:36 -04:00
Mauricio Carneiro 4cd1a92358 Updating RR integration tests
Forgot to update the integration tests after merging DEV-117 with optimizations from GATK main repo.
2012-10-23 11:26:26 -04:00
Mauricio Carneiro c210b7cde4 Merge GATK repo into CMI-GATK
Bringing in the following relevant changes:
	* Fixes the indel realigner N-Way out null pointer exception DEV-10
	* Optimizations to ReduceReads that bring the run time to 1/3rd.

Conflicts:
	protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SlidingWindow.java

DEV-10 #resolve #time 2m
2012-10-23 10:59:11 -04:00
Mauricio Carneiro bbf7a0fb09 Adding integration test to ReduceReads coreduction
DEV-117 #resolve
2012-10-23 10:56:33 -04:00
Mark DePristo 90f59803fd MaxAltAlleles now defaults to 6, no more MaxAltAllelesForIndels
-- Updated StandardCallerArgumentCollection to remove MaxAltAllelesForIndels. Previous argument is deprecated with meaningful doc message for people to use maxAltAlleles
-- All constructores, factory methods, and test builders and their users updated to provide just a single argument
-- Updating MD5s for integration tests that change due to genotyping more alleles
-- Adding more alleles to genotyping results in slight changes in the QUAL value for multi-allelic loci where one or more alleles aren't polymorphic.  That's simply due to the way that alternative hypotheses contribute as reference evidence against each true allele.  The effect can be large (new qual = old qual / 2 in one case here).
-- If we want more precision in our estimates we could decide (Eric, should we discuss?) to actually separately do a discovery phase in the genotyping, eliminate all variants not considered polymorphic, and then do a final round of calling to get the exact QUAL value for only those that are segregating.  This would have the value of having the QUAL stay constant as more alleles are genotyped, at the cost of some code complexity increase and runtime.  Might be worth it through
2012-10-22 13:47:56 -04:00
Eric Banks ccae6a5b92 Fixed the RR bug I (knowingly) introduced last week: turns out we can't trust a context size's worth of data from the previous marking. I think Mauricio warned me about this but I forgot. 2012-10-22 11:48:34 -04:00
Mark DePristo 9f2851d769 Updating UnifiedGenotyperGeneralPloidyIntegrationTest following rebasing
-- Created a JIRA ticket https://jira.broadinstitute.org/browse/GSA-623 for Guillermo to look at the differences as the multi-allelic nature of many sites seems to change with the new more protected infrastructure.  This may be due to implementation issues in the pooled caller, problems with my interface, or could be a genuine improvement.
2012-10-21 20:23:11 -04:00
Mark DePristo d21e42608a Updating integration tests for minor changes due to switching to EXACT_INDEPENDENT model by default 2012-10-21 12:43:46 -04:00
Mark DePristo 0fcd358ace Original EXACT model implementation lives, providing another reference (bi-allelic only) EXACT model
-- Potentially a very fast implementation (it's very clean) but restricted to the biallelic case
-- A starting point for future bi-allelic only optimized (logless) or generalized (bi-allelic general ploidy) implementations
-- Added systematic unit tests covering this implementation, and comparing it to others
-- Uncovered a nasty normalization bug in StateTracker that was capping our likelihoods at 0, even after summing up multiple likelihoods, which is just not safe to do and was causing us to lose likelihood in some cases
-- Removed the restriction that a likelihood be <= 0 in StateTracker, and the protection for these cases in GeneralPloidyExactAFCalc which just wasn't right
2012-10-21 12:42:31 -04:00
Mark DePristo eaffb814d3 IndependentExactAFCalc is now the default EXACT model implementation
-- Changed UG / HC to use this one via the StandardCallerArgumentCollection
-- Update the AFCalcFactory.Calculation to have a getDefault() value instead of having a duplicate entry in the enums
2012-10-21 12:42:31 -04:00
Mark DePristo 326f429270 Bugfixes to make new AFCalc system pass integrationtests
-- GeneralPloidyExactAFCalc turns -Infinity values into -Double.MAX_VALUE, so our calculations pass unit tests
-- Bugfix for GeneralPloidyGenotypeLikelihoodsCalculationModel, return a null VC when the only allele we get from our final alleles to use method is the reference base
-- Fix calculation of reference posteriors when P(AF == 0) = 0.0 and P(AF == 0) = X for some meaningful value of X.  Added unit test to ensure this behavior is correct
-- Fix horrible sorting bug in IndependentAllelesDiploidExactAFCalc that applied the theta^N priors in the wrong order.  Add contract to ensure this doesn't ever happen again
-- Bugfix in GLBasedSampleSelector, where VCs without any polymorphic alleles were being sent to the exact model
--
2012-10-21 12:42:31 -04:00
Mark DePristo 695cf83675 More docs and contracts for classes in genotyper.afcalc
-- Future protection of the output of GeneralPloidyExactAFCalc, which produces in some cases bad likelihoods (positive values)
2012-10-21 12:42:31 -04:00
Mark DePristo 99c9031cb4 Merge AFCalcResultTracker into StateTracker, cleanup
-- These two classes were really the same, and now they are actually the same!
-- Cleanuped the interfaces, removed duplicate data
-- Added lots of contracts, some of which found numerical issues with GeneralPloidyExactAFCalc (which have been patched over but not fixed)
-- Moved goodProbability and goodProbabilityVector utilities to MathUtils.  Very useful for contracts!
2012-10-21 12:42:31 -04:00
Guillermo del Angel e9b7324dc1 Merge branch 'master' of ssh://gsa3/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-21 12:38:49 -04:00
Guillermo del Angel 67b9e7319e Fix for integration tests: new criterion in AF exact calculation model to trim alleles based on likelihoods does produce better results and resulting alleles changed in 2 sites at integration tests (and all subsequent sites after this had minor annotation differences due to RankSum dithering) 2012-10-21 12:38:33 -04:00
Eric Banks 0616b98551 Not sure why we were setting the UAC variables instead of the simpleUAC ones when that's what we wanted. 2012-10-21 08:26:26 -04:00
Eric Banks 2c624f76c8 Refactoring the Unified (and Standard) Argument Collections because it was really ugly that the subclass had to do all the cloning for the super class. The clone() method is really not recommended best practice in Java anyways, so I changed it so that we use standard overloaded constructors. Confirmed that the Haplotype Caller --help docs do not include UG-specific arguments. 2012-10-20 20:35:54 -04:00
Ryan Poplin a647f1e076 Refactoring the PairHMM util class to allow for multiple implementations which can be specified by the callers via an enum argument. Adding an optimized PairHMM implementation which caches per-read calculations as well as a logless implementation which drastically reduces the runtime of the HMM while also increasing the precision of the result. In the HaplotypeCaller we now lexicographically sort the haplotypes to take maximal benefit of the haplotype offset optimization which only recalculates the HMM matrices after the first differing base in the haplotype. Many thanks to Mauricio for all the initial groundwork for these optimizations. The change to the one HC integration test is in the fourth decimal of HaplotypeScore. 2012-10-20 16:38:18 -04:00
Eric Banks 4622896312 Oops, killed contracts 2012-10-19 13:04:05 -04:00
Eric Banks f7bd4998fc No need for dummy GLs 2012-10-19 12:13:59 -04:00
Eric Banks deca564aef Merge branch 'master' of ssh://gsa2/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-19 12:01:49 -04:00
Eric Banks d3cf37dfaf Bug fix for general ploidy model: when choosing the most likely alternate allele(s), you need to weight the likelihood mass by the ploidy of the specific alleles (otherwise all alt alleles will have the same probability). This fixes Yossi's issue with pooled validation calling. This may brek integration tests, but I will leave that to GdA to handle. 2012-10-19 12:01:45 -04:00
Eric Banks 27d8d3f51e RR optimization: don't recalculate the entire bitset of variant sites for every read added to the sliding window. Instead, reuse as much of the previously calculated bitset as you can (basically from the window start until the start of the new read minus the context size). In some awfully performing regions this cuts down the runtime in half, although in others this doesn't seem to help much (so clearly something else is going on). Note that I still need to fix one last bug here, but it's almost done. 2012-10-19 11:59:34 -04:00
Ryan Poplin b4e69239dd In order to be considered an informative read in the PerReadAlleleLikelihoodMap it has to be informative compared to all other alleles not just the worst allele. Also, fixing a bug when there is only one allele in the map. 2012-10-18 14:31:15 -04:00
Eric Banks 20ffbcc86e RR optimization: profiling was showing that the BaseCounts class was a major bottleneck because the underlying implementation was a HashMap. Given that the map index was an indexable Enum anyways, it makes a lot more sense to implement as a native array. Knocks 30% off the runtime in bad regions. 2012-10-17 21:44:53 -04:00
Mauricio Carneiro 32ee2c7dff Refactored the compression interface per sample in ReduceReadsa
The CompressionStash is now responsible for keeping track of all intervals that must be kept uncompressed by all samples. In general this is a list generated by a tumor sample that will enforce all normal samples to abide.
  - Updated ReduceReads integration tests
  - Sliding Window is now using the CompressionStash (single sample).

DEV-104 #resolve #time 3m
2012-10-17 16:40:40 -04:00
Mauricio Carneiro b57df6cac8 Bringing CMI changes into the main GATK repo.
Merge remote-tracking branch 'cmi/master'
2012-10-17 15:23:19 -04:00
Mark DePristo fa93681f51 Scalability test for EXACT models 2012-10-17 14:15:11 -04:00
Mark DePristo c9e7a947c2 Improve interface of ExactCallLogger, use it to have a more informative AFCalcPerformanceTest 2012-10-17 14:15:11 -04:00
Eric Banks 33df1afe0e More BaseCounts optimizations for RR. 2012-10-17 00:55:44 -04:00
Eric Banks 19e2b5f0d5 RR optimization: since total count in BaseCounts is requested so often, don't keep computing it from scratch each time. 2012-10-17 00:44:23 -04:00
Mark DePristo 9bcefadd4e Refactor ExactCallLogger into a separate class
-- Update minor integration tests with NanoSchedule due to qual accuracy update
2012-10-16 13:30:09 -04:00
Mark DePristo c74d7061fe Added AFCalcResultUnitTest
-- Ensures that the posteriors remain within reasonable ranges.  Fixed bug where normalization of posteriors = {-1e30, 0.0} => {-100000, 0.0} which isn't good.  Now tests ensure that the normalization process preserves log10 precision where possible
-- Updated MathUtils to make this possible
2012-10-16 08:11:06 -04:00
Mark DePristo 9b0ab4e941 Cleanup IndependentAllelesDiploidExactAFCalc
-- Remove capability to truncate genotype likelihoods -- this wasn't used and isn't really useful after all
-- Added lots of contracts and docs, still more to come.
-- Created a default makeMaxLikelihoods function in ReferenceDiploidExactAFCalc and DiploidExactAFCalc so that multiple subclasses don't just do the default thing
-- Generalized reference bi-allelic model in IndependentAllelesDiploidExactAFCalc so that in principle any bi-allelic reference model can be used.
2012-10-16 08:11:06 -04:00
Mark DePristo d1511e38ad Removing ConstrainedAFCalculationModel; AFCalcPerformanceTest
-- Superceded by IndependentAFCalc
-- Added support to read in an ExactModelLog in AFCalcPerformanceTest and run the independent alleles model on it.
-- A few misc. bug fixes discovered during running the performance test
2012-10-16 08:11:06 -04:00