Commit Graph

2791 Commits (69bf70c42e8196464f9aec2b2c3e64ed9ef8a97d)

Author SHA1 Message Date
Guillermo del Angel 596c1723ae Hidden, unsupported ability of VariantEval to run AlleleCount stratification on sites-only VCFs. I'll expose it/add tests on it if people think this is generaly useful. User needs to specify total # of samples as command line argument since genotypes are not available.
Also, fixes to large-scale validation script: lower -minIndelFrac threshold or else we'll kill most indels since default 0.25 is too high for pools, fix also VE stratifications and add one VE run where eval=1KG, comp=pool data and AC stratification based on 1KG annotation
2012-10-25 10:35:43 -04:00
Eric Banks 6dc7d872ec Fix GenotypeAndValidate to handle SNPs and indels as reported on the forum. Recent changes to the UnifiedArgumentCollection made this stop working. Adding in JIRA to create integration tests for this tool. 2012-10-25 10:06:13 -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
Ami Levy Moonshine bcf3582095 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-24 21:50:41 -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 d9aa9855f8 Better comments in NestedIntegerArray 2012-10-24 15:29:13 -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 32a6d7000a Thread-safe ReadGroupCovariate
The ReadGroupCovariate class was not thread-safe. This led to horrible race conditions
in multithreaded runs of the BQSR where (for example) the same read group could get
inserted into the reverse lookup table twice with different IDs.

Should fix the intermittent crash reported in GSA-492.
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
Eric Banks 5b7b42356b Fix bug in GenotypeAndValidate where it doesn't check vc.hasAttribute() before using vc.getAttribute(). 2012-10-24 14:02:50 -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
Mark DePristo f838815343 Updating MD5s for confidence ref site estimation in IndependentAllelesDiploidExactAFCalc
-- Included logic to only add priors for alleles with sufficient evidence to be called polymorphic.  If no alleles are poly make sure to add priors of first allele
2012-10-23 06:47:53 -04:00
Mark DePristo 15b28e61cd Retiring TraverseReads and TraverseLoci after testing confirms nano scheduler version in single threaded version is fine
-- There's been no report of problems with the nano scheduled version of TraverseLoci and TraverseReads, so I'm removing the old versions since they are no longer needed
-- Removing unnecessary intermediate base classes
-- GSA-515 / Nanoscheduler GSA-549 / https://jira.broadinstitute.org/browse/GSA-549
2012-10-22 16:55:06 -04:00
Khalid Shakir fd59e7d5f6 Better error message when generic types are erased from scala collections. 2012-10-22 16:27:31 -04:00
Ryan Poplin 008df54575 Bug fix in GATKSAMRecord.getSoftEnd() for reads that are entirely clipped. 2012-10-22 14:21:52 -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
Khalid Shakir 97dc3664c9 Fixed yet another NPE related to the ArgumentTypeDescriptor vs. ArgumentMatchValue. Added integration test based on GSA-621. 2012-10-22 12:05:32 -04:00
Ami Levy Moonshine 1da4ad9607 new class to test the quals of reduced bam vs non-reduced bam 2012-10-22 10:45:53 -04:00
Mark DePristo 5296de8251 Fix UnifiedArgumentCollection constructor logic error
-- The old way of overloading constructors and calling super didn't work (might have been a consequence of merge).  This is the right way to do the copy constructor with the call to super()
2012-10-21 12:43:46 -04:00
Mark DePristo 6b6caf8e3a Bugfix for indel DP calculations using reduced reads
-- Adding tests for SNP and indel calling on reduced BAM
2012-10-21 12:42:32 -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 0fb8274507 Fix contact on sorting of AFCalcResults
-- The thing that must be sorted is the pre-theta^N list, which is not checked in the routine that applies the theta^N prior.
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
Mark DePristo 9c63cee9fc Moving pnrm to UnifiedArgumentCollection so it's available with the HaplotypeCaller 2012-10-21 12:42:31 -04:00
Eric Banks d44d5b8275 Fix RawHapMapCodec so that it can build indexes. Minor fixes to VCF codec. 2012-10-21 01:29:59 -04:00
Eric Banks 841a906f21 Adding a hidden (for now) argument to UG (and HC) that tells the caller that the incoming samples are contaminated by N% and to fix it by aggressively down-sampling all alleles. This actually works. Yes, you read that right: given that we know what N is, we can make good calls on bams that have N% contamination. Only hooked up for SNPS right now. No tests added yet. 2012-10-20 23:31:56 -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
Joel Thibault 45f64425a3 Update read metrics per shard rather than locus 2012-10-19 15:29:01 -04:00
Joel Thibault 637e0cf151 CountReads does not permit the use of output files 2012-10-19 15:29:01 -04:00
Khalid Shakir 2ef456d51a Added explicit @ClassType annotations to @Argument for Option[Int] or Option[Double] since scala seems to change the reflected type to Option[Object] on some systems.
Changed ReflectionUtils.getGenericTypes' order of looking for @ClassType since the primitive generic wasn't completely erased, only changed to Object which is incorrect.
More fixes to @Arguments labeled as java.io.File via incorrect @Input annotation.
Put in a default undocumented implementation of @Argument doc() to match the one added to @Input.
2012-10-19 13:20:29 -04:00
Eric Banks 9c088fe3fe Actually a better implementation of GATKSAMRecord.getSoftStart(). Last commit was all wrong. Oops. 2012-10-19 12:41:24 -04:00
Eric Banks f08e5a44da Better implementation of GATKSAMRecord.getSoftStart() 2012-10-19 12:11:18 -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
Khalid Shakir 403654d40a Fixed null checkes in ArgumentTypeDescriptor due to ArgumentMatchValue updates.
Fixed @Arguments such as scatter count that were labeled as java.io.File via incorrect @Input annotation.
2012-10-18 16:57:15 -04:00
Guillermo del Angel a4184716d8 Merge branch 'master' of ssh://gsa3/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-18 15:42:31 -04:00
Guillermo del Angel 3db38c5a93 Bug fix: inbreeding coeff shouldn't be computed in ref-only sites 2012-10-18 15:42:14 -04:00
Ami Levy Moonshine a0381f15af Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-18 14:49:34 -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
Mauricio Carneiro 3504f71b6b Fixing a null pointer exception bug for DEV-10 2012-10-18 13:58:38 -04:00
Mark DePristo d3fc797cfe SelectVariants is actually *NOT* NanoSchedulable 2012-10-18 10:42:20 -04:00
Mark DePristo f20fa9d082 SelectVariants is actually NanoSchedulable 2012-10-18 10:27:05 -04:00
Mark DePristo 97abb98c0b Bugfix for bad nt / nct argument detection in MicroScheduler 2012-10-18 10:27:05 -04:00
Eric Banks 54f698422c Better implementation for getSoftEnd() in GATKSAMRecord 2012-10-18 09:01:51 -04:00
Ami Levy Moonshine acc0fb2f7a Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-17 22:16:02 -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 8288c30e36 Use buffered output for ExactCallLogger 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
David Roazen b30e2a5b7d BQSR: tool to profile the effects of more-granular locking on scalability by # of threads 2012-10-16 14:43:16 -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 6bd0ec8de4 Proper likelihoods and posterior probability of the joint allele frequency in IndependentAllelesDiploidExactAFCalc
-- Fixed minor numerical stability issue in AFCalcResult
-- posterior of joint A/B/C is 1 - (1 - P(D | AF_b == 0)) x (1 - P(D | AF_c == 0)), for any number of alleles, obviously.  Now computes the joint posterior like this, and then back-calculates likelihoods that generate these posteriors given the priors.  It's not pretty but it's the best thing to do
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
kshakir 9fcf71c031 Updated google reflections due to stale slf4j version conflicting with other projects also trying to use Queue as a component.
Added targets to build.xml to effectively 'mvn install' packaged GATK/Queue from ant.
TODO: Versions during 'mvn install' are hardcoded at 0.0.1 until a better versioning scheme that works with maven dependencies has been identified.
2012-10-16 02:22:30 -04:00
kshakir 213cc00abe Refactored argument matching to support other plugins in addition to file lists.
Added plugin support for sending Queue status messages.
Argument parsing can store subclasses of java.io.File, for example RemoteFile.
2012-10-15 15:10:45 -04:00
Mauricio Carneiro 80d92e0c63 Allowing the GATK to have non-required outputs
Modified the SAMFileWriterArgumentTypeDescriptor to accept output bam files that are null if they're not required (in the @Output annotation).

This change enables the nWayOut parameter for the IndeRealigner and ReduceReads to operate optionally while maintaining the original single way out.

[#DEV-10 transition:31 resolution:1]
2012-10-15 13:49:08 -04:00
Ryan Poplin 25be94fbb8 Increasing the precision of MathUtils.approximateLog10SumLog10 from 1E-3 to 1E-4. Genotyper integration tests change as a result. Expanding the unit tests of MathUtils.log10sumLog10. 2012-10-15 13:24:32 -04:00
Ami Levy Moonshine 0d93effa4d Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-15 11:19:12 -04:00
Mark DePristo 57e231610b New framework for EXACT calculations, with new 3 new implementations
-- Before this branch, the EXACT calculation implementation was largely based on historical choices in the UnifiedGenotyper.  The code was badly organized, there were no unit tests, and the Diploid EXACT calculation was super slow O(n.samples ^ n.alt.alleles)
-- Reorganized code into a single class AFCalc superclass that carries out the calculation and an AFCalcResult object that contains only the information we should expose to code users, and is well-validated.
-- Implement a new model for the multi-allelic exact calculation that sweeps for each alt allele B all likelihoods into a bi-allelic model XB where X is all alleles != B, and calls these all separately using the reference bi-allelic model.  It produces identical quals for the bi-allelic case but slightly different results for multi-allelics due to a genuine model difference in that this Independent model doesn't penalize fully all genotype configurations as occurs in the Reference multi-allelic implementation.  However, it seems after much debate that the reference model is doing the wrong thing, so in fact the Independent model seems correct.  This code isn't the default implementation yet, simply because I want to do some cleanup and discuss with the methods group before enabling.
-- Constrained search model implemented, but will be deleted in a subsequent code cleanup
-- Massive (40K) suite of unit tests the exact models, which are passing for the reference and the independent alleles exact model.
-- Restored -- but isn't 100% hooked up -- the original clean bi-allelic model for Ryan to pass his optimized logless version on.
-- The only way to create these AFCalc objects is through an AFCalcFactory, which again validates its arguments.  The AFCalcFactory.Calculation enum exposes calculations to the UG / HC as the AFModel.
-- Separated AFCalc from UG, into its own package that could in principle be pushed into utils now
-- Created a simple main[] function to run performance tests of the EXACT model.
2012-10-15 08:32:32 -04:00
Mark DePristo dcf8af42a8 Finalizing IndependentAllelesDiploidExactAFCalc
-- Updating integration tests, confirming that results for the original EXACT model are as expected given our new more rigorous application of likelihoods, priors, and posteriors
-- Fix basic logic bug in AFCalcResult.isPolymorphic and UnifiedGenotypeEngine, where isNonRef really meant isRef.  Not ideal.  Finally caught by some tests, but good god it almost made it into the code
-- Now takes the Math.abs of the phred-scaled confidence so that we don't see -0.0
-- Massive new suite of unit tests to ensure that bi-allelic and tri-allele events are called properly with all models, and that the IndependentAllelesDiploidExactAFCalc calls events with up to 4 alt alleles correctly.  ID'd some of the bugs below
-- Fix sort order bug in IndependentAllelesDiploidExactAFCalc caught by new unit tests
-- Fix bug in GeneralPloidyExactAFCalc where the AFCalcResult has meaningless values in the likelihoods when no there we no informative GLs.
2012-10-15 08:21:03 -04:00
Mark DePristo 1ac09ca81e More bugfixes on the way to a final push with new Exact model framework
-- UnifiedGenotyperEngine uses only the alleles used in genotyping, not the original alleles, when considering which alleles to include in output
-- AFCalcFactory has a more informative info message when looking for and selecting an exact model to use in genotyping
2012-10-15 07:53:57 -04:00
Mark DePristo 6b639f51f0 Finalizing new exact model and tests
-- New capabilities in IndependentAllelesDiploidExactAFCalc to actually apply correct theta^n.alt.allele prior.
-- Tests that theta^n.alt.alleles is being applied correctly
-- Bugfix: keep in logspace when computing posterior probability in toAFCalcResult in AFCalcResultTracker.java
-- Bugfix: use only the alleles used in genotyping when assessing if an allele is polymorphic in a sample in UnifiedGenotyperEngine
2012-10-15 07:53:57 -04:00
Mark DePristo cb857d1640 AFCalcs must be made by factory method now
-- AFCalcFactory is the only way to make AFCalcs now.  There's a nice ordered enum there describing the models and their ploidy and max alt allele restrictions.  The factory makes it easy to create them, and to find models that work for you given your ploidy and max alt alleles.
-- AFCalc no longer has UAC constructor -- only AFCalcFactory does.  Code cleanup throughout
-- Enabling more unit tests, all of which almost pass now (except for IndependentAllelesDiploidExactAFCalc which will be fixed next)
-- It's now possible to run the UG / HC with any of the exact models currently in the system.
-- Code cleanup throughout the system, reorganizing the unit tests in particular
2012-10-15 07:53:56 -04:00
Mark DePristo 6bbe750e03 Continuing work on IndependentAllelesDiploidExactAFCalc
-- Continuing to get IndependentAllelesDiploidExactAFCalc working correctly.  A long way towards the right answer now, but still not there
-- Restored (but not tested) OriginalDiploidExactAFCalc, the clean diploid O(N) version for Ryan
-- MathUtils.normalizeFromLog10 no longer returns -Infinity when kept in log space, enforces the min log10 value there
-- New convenience method in VariantContext that looks up the allele index in the alleles
2012-10-15 07:53:56 -04:00
Mark DePristo 176b74095d Intermediate commit on the path to getting a working IndependentAllelesDiploidExact calculation
-- Still not work, but I know what's wrong
-- Many tests disabled, that need to be reanabled
2012-10-15 07:53:56 -04:00
Mark DePristo 91aeddeb5a Steps on the way to a fully described and semantically meaningful AFCalcResult
-- AFCalcResult now sports a isPolymorphic and getLog10PosteriorAFGt0ForAllele functions that allow you to ask individually whether specific alleles we've tried to genotype are polymorphic given some confidence threshold
-- Lots of contracts for AFCalcResult
-- Slowly killing off AFCalcResultsTracker
-- Fix for the way UG checks for alt alleles being polymorphic, which is now properly conditioned on the alt allele
-- Change in behavior for normalizeFromLog10 in MathUtils: now sets the log10 for 0 values to -10000, instead of -Infinity, since this is really better to ensure that we don't have -Infinity values traveling around the system
-- ExactAFCalculationModelUnitTest now checks for meaningful pNonRef values for each allele, uncovering a bug in the GeneralPloidy (not fixed, related to Eric's summation issue from long ago that was reverted) in that we get different results for diploid and general-ploidy == 2 models for multi-allelics.
2012-10-15 07:53:56 -04:00
Mark DePristo 4f1b1c4228 Intermediate commit II on simplifying AFCalcResult
-- All of the code now uses the AFCalc object, not the not package protected AFCalcResultTracker.  Nearly all unit tests pass (expect for a contract failing one that will be dealt with in subsequent commit), due to -Infinity values from normalizeLog10.
-- Changed the way that UnifiedGenotyper decides if the best model is non-ref.  Previously looked at the MAP AC, but the MAP AC values are no longer provided by AFCalcResult.  This is on purpose, because the MAP isn't a meaningful quantity for the exact model (i.e., everything is going to go to MLE AC in some upcoming commit).  If you want to understand why come talk to me.  Now uses the isPolymorphic function and the EMIT confidence, so that if pNonRef > EMIT then the site is poly, otherwise it's mono.
2012-10-15 07:53:56 -04:00
Mark DePristo 06687bfaf6 Intermediate commit on simplifying AFCalcResult
-- Renamed old class AFCalcResultTracker.  This object is now allocated by the AFCalc itself, since it is heavy-weight and was badly optimized in the UG with a thread-local variable. Now, since there's already a AFCalc thread-local there, we get that optimization for free.
-- Removed the interface to provide the AFCalcResultTracker to getlog10PNonRef.
-- Wrote new, clean but unused AFCalcResult object that will soon replace the tracker as the external interface to the AFCalc model results, leaving the tracker as an internal tracker structure.  This will allow me to (1) finally test things exhaustively, as the contracts on this class are clear (2) finalize the IndependentAllelesDiploidExactAFCalc class as it can work with a meaningfully defined result across each object
2012-10-15 07:53:56 -04:00
Mark DePristo c82aa01e0e Generalize testing infrastructure to allow us to run specific n.samples calculation 2012-10-15 07:53:55 -04:00
Mark DePristo ec935f76f6 Initial implementation and tests for IndependentAllelesDiploidExactAFCalc
-- This model separates each of N alt alleles, combines the genotype likelihoods into the X/X, X/N_i, and N_i/N_i biallelic case, and runs the exact model on each independently to handle the multi-allelic case.  This is very fast, scaling at O(n.alt.alleles x n.samples)
-- Many outstanding TODOs in order to truly pass unit tests
-- Added proper unit tests for the pNonRef calculation, which all of the models pass
2012-10-15 07:53:55 -04:00
Mark DePristo ee2f12e2ac Simpler naming convention for AlleleFrequencyCalculation => AFCalc 2012-10-15 07:53:55 -04:00
Mark DePristo cf3f9d6ee8 Reorganize and cleanup AFCalculations
-- Now contained in a package called afcalc
-- Extracted standard alone classes from private static classes in ExactAF
-- Most fields are now private, with accessors
-- Overall cleaner organization now
2012-10-15 07:53:55 -04:00
Mark DePristo 13211231c7 Restructure and cleanup ExactAFCalculations
-- Now there's no duplication between exact old and constrained models.  The behavior is controlled by an overloaded abstract function
-- No more static function to access the linear exact model -- you have to create the surrounding class.  Updated code in the system
-- Everything passes unit tests
2012-10-15 07:53:54 -04:00
Mark DePristo f800f3fb88 Optimized diploid exact AF calculation uses maxACs to stop the calculation by maxAC by allele
-- Added unit tests to ensure the approximation isn't so far from our reference implementation (DiploidExactAFCalculation)
2012-10-15 07:53:54 -04:00
Mark DePristo efad215edb Greedy version of function to compute the max achievable AC for each alt allele
-- walks over the genotypes in VC, and computes for each alt allele the maximum AC we need to consider in that alt allele dimension.  Does the calculation based on the PLs in each genotype g, choosing to update the max AC for the alt alleles corresponding to that PL.  Only takes the first lowest PL, if there are multiple genotype configurations with the same PL value.  It takes values in the order of the alt alleles.
2012-10-15 07:53:54 -04:00
Mark DePristo 7666a58773 Function to compute the max achievable AC for each alt allele
-- Additional minor cleanup of ExactAFCalculation
2012-10-15 07:53:53 -04:00
Eric Banks a8efa5451a Protect against bad bases users have screwy data (or try to use zipped references) 2012-10-12 15:05:03 -04:00
Eric Banks 81532a0529 Missing file are user errors. 2012-10-12 09:48:12 -04:00
Eric Banks fa77a83783 Update the out of space error to include another permutation 2012-10-12 09:38:12 -04:00
Eric Banks 85525d9e6e Make Geraldine's life easier: from now on we treat problems where a temp file cannot be found when running the GATK with multiple threads as User Errors (since they are 99.9% of the time). This is an extremely large class of errors in Tableau and on the forums. Helpful error message tells users exactly what we tell them on the forums anyways (Geraldine: feel free to edit). 2012-10-12 09:19:50 -04:00
Eric Banks ad60300bee Catch malformed BAM files at the source since this is the largest class of errors in Tableau. 2012-10-12 09:07:57 -04:00
Eric Banks 593c8065d9 Fix docs for BadMateFilter 2012-10-12 08:35:45 -04:00
Christopher Hartl 6b9987cf1b Merge branch 'master' of gsa2:/humgen/gsa-scr1/chartl/dev/unstable 2012-10-12 00:48:42 -04:00
David Roazen 3861212dab Fix inefficiency in FilePointer GenomeLoc validation
Validation of GenomeLocs in the FilePointer class was extremely inefficient
when the GenomeLocs were added one at a time rather than all at once.

Appears to mostly fix GSA-604
2012-10-11 19:55:14 -04:00
Ami Levy Moonshine ef3882f439 PhaseByTransmission: small typo /n. variantCallQC_summaryTablesOnly.R: small changes (more to come) /n GeneralCallingPipeline.scala: the new pipeline script. It is not as clean as I want it to be, but it works. I still going to work on it a little bit more. Also, it does not include yet: (1) the RR step (2) need better eval step (3) need to include other targets (currently it eork on the CEU Trio) 2012-10-11 14:51:41 -04:00
Ryan Poplin 08b8ce6903 Fixing merge conflicts related to the comment formatting in the BQSR. 2012-10-10 16:03:58 -04:00
Ryan Poplin 45717349dc Fixing BQSR bug reported on the forum for reads that begin with insertions. 2012-10-10 16:01:37 -04:00
Ryan Poplin 2a9ee89c19 Turning on allele trimming for the haplotype caller. 2012-10-10 10:47:26 -04:00
Ryan Poplin b543bddbb7 Fixing merge conflicts related to the comment formatting in the BQSR. 2012-10-08 10:23:08 -04:00
Ryan Poplin b3cc04976f Fixing BQSR bug reported on the forum for reads that being with insertions. 2012-10-08 10:18:29 -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 82e40340c0 Use StringBuilder over StringBuffer 2012-10-07 00:02:15 -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 bfc551f612 Fix for GSA-589: SelectVariants with -number gives biased results. The implementation was not good and it's not worth keeping this busted code around given that we have a working implementation of a fractional random sampling already in place, so I removed it. 2012-10-06 22:39:49 -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
Eric Banks 52326942cf Merge branch 'master' of ssh://gsa2/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-10-05 16:15:07 -04:00
Eric Banks 04853252a0 Possible fix for reduced reads coming from the HaplotypeCaller in the AD 2012-10-05 16:15:04 -04:00
Yossi Farjoun d419a33ed1 * Added an integration test for AD annotation in the Haplotype caller.
* Corrected FS Anotation for UG as for AD.
* HC still does not annotate ReducedReads correctly (for FS nor AD)
2012-10-05 15:23:59 -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
Eric Banks c66ef17cd0 Add a separate max alt alleles argument for indels that defaults to 2 instead of 3. PLEASE TAKE NOTE. 2012-10-04 13:52:14 -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 51cafa73e6 Removing public -> private dependency 2012-10-03 20:05:03 -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 3663fe1555 Framework for evaluating the performance and scaling of the ExactAF models 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 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
Mark DePristo 1c52db4cdd Add exactCallsLog output file to ExactModel and StandardCallerArgumentCollection
-- This allows us to log all of the information about the exact model call (alleles, priors, PLs, result, and runtime) to a file for later debugging / optimization
2012-10-03 19:55:11 -07:00
Christopher Hartl ca31ddf2a5 Allow VCFs without PLs to be converted to a bed file with genotypes other than no-call (by setting the minimum GQ to <=0). Performance enhancements to GRM suite. 2012-10-03 21:36:35 -04:00
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
David Roazen 118e974731 GATK Engine: special-case "monolithic" FilePointers, and allow them to represent multiple contigs
Sometimes the GATK engine creates a single monolithic FilePointer representing all regions
in all BAM files. In such cases, the monolithic FilePointer is the only FilePointer emitted
by the BAMScheduler, and it's safe to allow it to contain regions and intervals from multiple
contigs.

This fixes support for reading unindexed BAM files (since an unindexed BAM is one case
in which the engine creates a monolithic FilePointer).
2012-10-02 15:30:03 -04:00
David Roazen a96ed385df ReadShard.getReadsSpan(): handle case where shard contains only unmapped mates
Nasty, nasty bug -- if we were extremely unlucky with shard boundaries, we might
end up with a shard containing only unmapped mates of mapped reads. In this case,
ReadShard.getReadsSpan() would not behave correctly, since the shard as a whole would
be marked "mapped" (since it refers to mapped intervals) yet consist only of unmapped
mates of mapped reads located within those intervals.
2012-10-02 13:50:00 -04:00
David Roazen ac87ed47bb BQSR: allow logging recal table updates to a file
For testing/debugging purposes only
2012-10-01 14:18:34 -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
David Roazen e740977994 GATK Engine: do not merge FilePointers that span multiple contigs
This affects both the non-experimental and experimental engine paths, and so
may break tests, but this is a necessary change.
2012-09-27 18:02:25 -04:00
David Roazen e82946e5c9 ExperimentalReadShardBalancer: create one monolithic FilePointer per contig
Merge all FilePointers for each contig into a single, merged, optimized FilePointer
representing all regions to visit in all BAM files for a given contig.

This helps us in several ways:

-It allows us to create a single, persistent set of iterators for each contig,
 finally and definitively eliminating all Shard/FilePointer boundary issues for
 the new experimental ReadWalker downsampling

-We no longer need to track low-level file positions in the sharding system (which
 was no longer possible anyway given the new experimental downsampling system)

-We no longer revisit BAM file chunks that we've visited in the past -- all BAM
 file access is purely sequential

-We no longer need to constantly recreate our full chain of read iterators

There are also potential dangers:

-We hold more BAM index data in memory at once. Given that we merge and optimize
 the index data during the merge, and only hold one contig's worth of data at a
 time, this does not appear to be a major issue. TODO: confirm this!

-With a huge number of samples and intervals, the FilePointer merge operation
 might become expensive. With the latest implementation, this does not
 appear to be an issue even with a huge number of intervals (for one sample, at least),
 but if it turns out to be a problem for > 1 sample there are things we can do.

Still TODO: unit tests for the new FilePointer.union() method
2012-09-27 14:47:54 -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 caa431c367 Merge branch 'master' of ssh://gsa2/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-09-24 21:46:36 -04:00
David Roazen 0b488cce66 ExperimentalReadShardBalancer: close() exhausted iterators
Fixes a truly awful SAMReaders resource leak reported by Eric -- thanks Eric!
2012-09-24 14:52:59 -04:00
Mark DePristo 9fd30d6f1c When writing the initial commit for nt + nct I realized this class was really just a ThreadGroupOutputTracker
-- The code is cleaner and the logical more obvious now.
2012-09-24 14:15:36 -04:00
Mark DePristo 3e8d992828 Remove bad error test from MicroScheduler, as it's no longer applicable. 2012-09-24 14:15:36 -04:00
Mark DePristo a6b3497eac Fixes GSA-515 Nanoscheduler GSA-577 -nt and -nct together appear to not close resources properly
-- Fixes monster bug in the way that traversal engines interacted with the NanoScheduler via the output tracker.
-- ThreadLocalOutputTracker is now a ThreadBasedOutputTracker that associates via a map from a master thread -> the storage map.  Lookups occur by walking through threads in the same thread group, not just the thread itself (TBD -- should have a map from ThreadGroup instead)
-- Removed unnecessary debug statement in GenomeLocParser
-- nt and nct officially work together now
2012-09-24 14:15:35 -04:00
Mark DePristo 4749fc114f Temp. disable -nt > 1 and -nct > 1 while bugs are worked out 2012-09-24 14:15:35 -04:00
Mark DePristo 09bbd2c4c3 Include exception in VCFWriter when one is found when rethrowing as ReviewedStingException 2012-09-24 14:15:35 -04:00
Mark DePristo 10a6b57be6 Fix thread name: should be master executor not input 2012-09-24 14:15:35 -04:00
Eric Banks 9464dfdbf2 Don't penalize the reduced reads for spanning deletions (when surrounding base quals are Q2s) 2012-09-24 14:06:07 -04:00
Eric Banks 1509153b4b Adding my little walker to assess reduced bam coverage against the original bam because it's turning out to be very useful. 2012-09-23 00:47:40 -04:00
David Roazen f6a22e5f50 ExperimentalReadShardBalancerUnitTest was being skipped; fixed
TestNG skips tests when an exception occurs in a data provider,
which is what was happening here.

This was due to an AWFUL AWFUL use of a non-final static for
ReadShard.MAX_READS. This is fine if you assume only one instance
of SAMDataSource, but with multiple tests creating multiple SAMDataSources,
and each one overwriting ReadShard.MAX_READS, you have a recipe for
problems. As a result of this the test ran fine individually, but not as
part of the unit test suite.

Quick fix for now to get the tests running -- this "mutable static"
interface should really be refactored away though, when I have time.
2012-09-22 01:56:39 -04:00
David Roazen e077347cc2 Re-allow running the GATK with experimental downsampling
It's now possible to run with experimental downsampling enabled
using the --enable_experimental_downsampling engine argument.

This is scheduled to become the GATK-wide default next week after
diff engine output for failing tests has been examined.
2012-09-21 23:20:46 -04:00
David Roazen 34eed20aa6 PerSampleDownsamplingReadsIterator: fix for incorrect use of DOWNSAMPLER_POSITIONAL_UPDATE_INTERVAL
Notify all downsamplers in our pool of the current global genomic position every
DOWNSAMPLER_POSITIONAL_UPDATE_INTERVAL position changes, not every single
positional change after that threshold is first reached.
2012-09-21 22:43:39 -04:00
David Roazen 133085469f Experimental, downsampler-friendly read shard balancer
-Only used when experimental downsampling is enabled

-Persists read iterators across shards, creating a new set only when we've exhausted
the current BAM file region(s). This prevents the engine from revisiting regions discarded
by the downsamplers / filters, as could happen in the old implementation.

-SAMDataSource no longer tracks low-level file positions in experimental mode. Can strip
out all related code when the engine fork is collapsed.

-Defensive implementation that assumes BAM file regions coming out of the BAM Schedule
can overlap; should be able to improve performance if we can prove they cannot possibly
overlap.

-Tests a bit on the extreme side (~8 minute runtime) for now; will scale these back
once confidence in the code is gained
2012-09-21 22:17:58 -04:00
Guillermo del Angel ab8fa8f359 Bug fix: AlleleCount stratification in VariantEval didn't support higher ploidy and was producing bad tables 2012-09-21 20:48:12 -04:00
Mark DePristo b5fa848255 Fix GSA-515 Nanoscheduler GSA-573 -nt and -nct interact badly w.r.t. output
-- See https://jira.broadinstitute.org/browse/GSA-573
-- Uses InheritedThreadLocal storage so that children threads created by the NanoScheduler see the parent stubs in the main thread.
-- Added explicit integration test that checks that -nt 1, 2 and -nct 1, 2 give the same results for GLM BOTH with the UG over 1 MB.
2012-09-20 18:45:16 -04:00
Mark DePristo ba9e95a8fe Revert "Reorganized NanoScheduler so that main thread does the reduces"
Doesn't actually fix the problem, and adds an unnecessary delay in closing down NanoScheduler, so reverting.

This reverts commit 66b820bf94ae755a8a0c71ea16f4cae56fd3e852.
2012-09-20 18:45:15 -04:00
Mark DePristo 7425ab9637 Reorganized NanoScheduler so that main thread does the reduces
-- Enables us to run -nt 2 -nct 2 and get meaningful output
-- Uses a sleep / poll mechanism.  Not ideal -- will look into wait / notify instead.
2012-09-20 18:45:15 -04:00
Eric Banks 747694f7c2 Merge branch 'master' of ssh://gsa2/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-09-20 14:14:58 -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
Christopher Hartl c492185be6 Merge branch 'master' of gsa2:/humgen/gsa-scr1/chartl/dev/unstable 2012-09-20 12:56:07 -04:00
Christopher Hartl d25579deeb A couple of minor things.
1) Better documentation on the meta data file for VariantsToBinaryPed with examples of each file type

2) MannWhitneyU can now take an argument on creation to turn off dithering. This pertains to JIRA-GSA-571 but does not fix it,
   as it isn't hooked up to the command line. Next step is to add an argument to the command line where it's accessible to the
   annotation classes (e.g. from either UG or the VariantAnnotator).

3) Added some dumb python scripts to deal with Plink files, and a script to convert plink binaries to VCF to help sanity check. Basically if you want to do an analysis on genotype data stored in plink binary format, your choices are:
  1) Add a new module to Plink [difficulty rating: Impossible -- code obfuscation]
  2) Steal plink parsing code from software (Plink/PlinkSeq/GCTA/Emacks/etc) that readds the files [difficulty rating: Oppressive -- code not modularized at all)
  3) Write your own dumb stuff [difficutly rating: Annoying]
What's been added is the result of 3. It's a library so nobody else has to do this, so long as they're comfortable with python.
2012-09-20 12:48:13 -04:00
Eric Banks 4b7edc72d1 Fixing edge case bug in the Exact model (both standard and generalized) where we could abort prematurely in the special case of multiple polymorphic alleles and samples with widely different depths of coverage (e.g. exome and low-pass). In these cases it was possible to call the site bi-allelic when in fact it was multi-allelic (but it wouldn't cause it to create a monomorphic call). 2012-09-20 10:59:42 -04:00
Ryan Poplin ccb65a03e8 sorry, non-ASCII characters annoy some computers. 2012-09-20 10:14:48 -04:00
Mark DePristo 087247f1f0 Allow longs and doubles in recalibration report to allow some backward compatibility 2012-09-19 19:23:44 -04:00
Mark DePristo 2267b722b2 Proper error handling in NanoScheduler
-- Renamed TraversalErrorManager to the more general MultiThreadedErrorTracker
-- ErrorTracker is now used throughout the NanoScheduler.  In order to properly handle errors, the work previously done by main thread (submit jobs, block on reduce) is now handled in a separate thread.  The main thread simply wakes up peroidically and checks whether the reduce result is available or if an error has occurred, and handles each appropriately.
-- EngineFeaturesIntegrationTest checks that -nt and -nct properly throw errors in Walkers
-- Added NanoSchedulerUnitTest for input errors
-- ThreadEfficiencyMonitoring is now disabled by default, and can be enabled with a GATK command line option.  This is because the monitoring doesn't differentiate between threads that are supposed to do work, and those that are supposed to wait, and therefore gives misleading results.
-- Build.xml no longer copies the unittest results verbosely
2012-09-19 17:03:13 -04:00
Mark DePristo 773af05980 Intermediate commit for proper error handling in the NanoScheduler
-- Refactored error handling from HMS into utils.TraversalErrorManager, which is now used by HMS and will be usable by NanoScheduler
-- Generalized EngineFeaturesIntegrationTest to test map / reduce error throwing for nt 1, nt 2 and nct 2 (disabled)
-- Added unit tests for failing input iterator in NanoScheduler (fails)
-- Made ErrorThrowing NanoScheduable
2012-09-19 17:03:13 -04:00
Mark DePristo d2046b67b1 Remove problematic @Ensures from InputProducer.
-- We need to figure out why CoFoJa is broken in the NanoScheduler
2012-09-19 17:03:13 -04:00
Mark DePristo 33fabb8180 Final V3 version of NanoScheduler
-- Fixed basic bugs in tracking of input -> map -> reduce jobs
-- Simplified classes
-- Expanded unit tests
2012-09-19 17:03:12 -04:00
Mark DePristo 5734d756b5 Remove problematic @Invariant from EOFMarkedValue 2012-09-19 17:03:12 -04:00
Mark DePristo aa9a1e8122 Warn GATK user if the number of requested threads > available processors on the machine 2012-09-19 17:03:12 -04:00
Mark DePristo 76027d17e6 Add a few more UnitTests for InputProducer
-- Cleaned up function calls for clarity
2012-09-19 17:03:12 -04:00
Mark DePristo 7605c6bcc4 Done GSA-515 Nanoscheduler / GSA-557 V3 nanoScheduler algorithm
-- V3 + V4 algorithm for NanoScheduler.  The newer version uses 1 dedicated input thread and n - 1 map/reduce threads.  These MapReduceJobs perform map and a greedy reduce.  The main thread's only job is to shuttle inputs from the input producer thread, enqueueing MapReduce jobs for each one.  We manage the number of map jobs now via a Semaphore instead of a BlockingQueue of fixed size.
-- This new algorithm should consume N00% CPU power for -nct N value.
-- Also a cleaner implementation in general
-- Vastly expanded unit tests
-- Deleted FutureValue and ReduceThread
2012-09-19 17:03:12 -04:00
Mark DePristo 69e418c3f5 Intermediate commit for v3 NanoScheduling algorithm
-- This version works but it blocks much more than I'd expect on input.  Merging v2 and v3 to make v4 now
2012-09-19 17:03:12 -04:00
Ryan Poplin 7a7103a757 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-09-19 10:39:18 -04:00
Ryan Poplin 0ea543e1fd Removing testing scaffolding from delocalized BQSR. The output recal table reports the data as doubles instead of integers. This changes the mapping-based BQSR integration tests. Final intermediate push before delocalized BQSR replaces previous BQSR. 2012-09-19 10:39:06 -04:00
Ami Levy Moonshine ccc3f4ff8d Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-09-17 09:58:27 -04:00
Ami Levy Moonshine ee0b17d98f typo in VE 2012-09-17 09:51:51 -04:00
Eric Banks 86be50f18d Add note to docs that the --list argument requires full command-line 2012-09-14 10:58:44 -04:00
Eric Banks 0206e09a6a Merge branch 'master' of ssh://gsa2/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-09-12 15:18:27 -04:00
Eric Banks d94d0d15c2 Complete overhaul of previous commits to make it all work with scatter-gather. Now tracks output files correctly and can print to stdout. 2012-09-12 15:15:40 -04:00
Eric Banks 4bb7a99f08 Given that all classes implementing output stubs already have getters for the underlying OutputStream and File, it makes sense to unify that functionality into the Stub interface. Now it is possible to have an Engine utility method that iterates over all registered stubs to find the one representing a given OutputStream and return the File associated with it. 2012-09-12 11:51:44 -04:00
Eric Banks 994a4ff387 Track all outputs from BQSR (.table, .csv., and .pdf) as @Output arguments. Updated integration tests because we no longer have command-line options not to generate plots (now just don't provide a pdf) or to keep the intermediate csv (now, just provide a filename on the command-line). This is currently busted because we can't access the original filenames from the Engine's storage/stub system and therefore cannot call out to the Rscript with the executor (which requires filename strings). 2012-09-12 11:24:53 -04:00
Christopher Hartl 96be1cbea9 My own integration test isn't passing with a clean checkout. This fix to the walker ought to do it. 2012-09-12 10:11:06 -04:00
Christopher Hartl 546586b70e Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-09-12 10:09:42 -04:00
Mark DePristo bfbf1686cd Fixed nasty bug with defaulting to diploid no-call genotypes
-- For the pooled caller we were writing diploid no-calls even when other samples were haploid.  Changed maxPloidy function to return a defaultPloidy, rather than 0, in the case where all samples are missing.
-- VCF/BCF Writers now create missing genotypes with the ploidy of other samples, or 2 if none are available at all.
-- Updating integration tests for general ploidy, as previously we wrote ./. even when other calls were 0/0/0/0/0/0/0/0/0/0/0/0/0/0/0/0/0/0/0/1/1/1/1/1, but now we write ./././././././././././././././././././././././. (ugly but correct)
2012-09-12 07:08:03 -04:00
Mark DePristo d1ba17df5d Fixed nasty bug in BCF2 writer for case where all genotypes are missing
-- Previous code was looking for a -1 result from maxPloidy() but the result as actually 0, so instead of writing a diploid no call we were actually writing "unavailable" genotypes, and failing the BCF == VCF test in integration tests.  Fixed.
2012-09-12 06:46:27 -04:00
Mark DePristo 91f3204534 VCF/BCF writers once again automatically write out no-call genotypes for samples in the VCFHeader but not in the VC itself
-- Turns out this was consuming 30% of the UG runtime, and causing problems elsewhere.
-- Removed addMissingSamples from VariantcontextUtils, and calls to it
-- Updated VCF / BCF writers to automatically write out a diploid no call for missing samples
-- Added unit tests for this behavior in VariantContextWritersUnitTest
2012-09-12 06:46:26 -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 e25e617d1a Fixes GSA-515 Nanoscheduler GSA-560 / Fix display of NanoScheduler and MonitoringEfficiency
-- Now prints out a single combined NanoScheduler runtime profile report across all nano schedulers in use.  So now if you run with -nt 4 you'll get one combined NanoScheduler profiler across all 4 instances of the NanoScheduler within TraverseXNano.
2012-09-11 07:38:34 -04:00
Mark DePristo d6e42d839c Fixes GSA-558 GATK ReadShards don't handle unmapped reads correctly. 2012-09-10 20:14:14 -04:00
Mark DePristo 641c6a361e Fix nasty memory leak in new data thread x cpu thread parallelism
-- Basically you cannot safely use instance specific ThreadLocal variables, as these cannot be safely cleaned up.  The old implementation kept pointers to old writers, with huge tribble block indexes, and eventually we crashed out of integration tests
-- See http://weblogs.java.net/blog/jjviana/archive/2010/06/10/threadlocal-thread-pool-bad-idea-or-dealing-apparent-glassfish-memor for more information
-- New implementation uses a borrow/return schedule with a list of N TraversalEngines managed by the MicroScheduler directly.
2012-09-10 20:14:14 -04:00
Mark DePristo 195cf6df7e Attempting to fix out of memory errors with new traversal engine creator 2012-09-10 20:14:14 -04:00
Mark DePristo f713d400e2 Fixed GSA-515 Nanoscheduler GSA-555 / Make NT and NCT work together
-- Can now say -nt 4 and -nct 4 to get 16 threads running for you!
-- TraversalEngines are now ThreadLocal variables in the MicroScheduler.
-- Misc. code cleanup, final variables, some contracts.
2012-09-10 20:14:14 -04:00
Mark DePristo 233f70f8ba Final cleanup of TraversalProgressMeters, moved to utils.progressmeter
-- TraversalProgressMeter now completely generalized, named ProgressMeter in utils.progressmeter.  Now just takes "nRecordsProcessed" as an argument to print reads.  Completely removes dependence on complex data structures from TraversalProgressMeter.  Can be used to measure progress on any task with processing units in genomic locations.
-- a fairly simple, class with no dependency on GATK engine or other features.
-- Currently only used by the TraversalEngine / MicroScheduler but could be used for any purpose now, really.
2012-09-10 20:14:14 -04:00
Mark DePristo 2e94a0a201 Refactor TraversalEngine to extract the progress meter functions
-- Previously these core progress metering functions were all in TraversalEngine, and available to subclasses like TraverseLoci via inheritance.  The problem here is that the upcoming data threads x cpu threads parallelism requires one master copy of the progress metering shared among all traversals, but multiple instantiations of traverse engines themselves.
-- Because the progress metering code has horrible anyway, I've refactored and vastly cleaned up and simplified all of these capabilities into TraversalProgressMeter class.  I've simplified down the classes it uses to work (STILL SOME TODOs in there) so that it doesn't reach into the core GATK engine all the time.  It should be possible to write some nice tests for it now.  By making it its own class, it can protect itself from multi-threaded access with a single synchronized printProgress function instead of carrying around multiple lock objects as before
-- Cleaned up the start up of the progress meter.  It's now handled when the meter is created, so each micro scheduler doesn't have to deal with proper initialization timing any longer
-- Simplified and made clear the interface for shutting down the traversal engines.  There's no a shutdown method in TraversalEngine that's called once by the MicroScheduler when the entire traversing in over.  Nano traversals now properly shut down (was subtle bug I undercovered here).  The printing of on traversal done metering is now handled by MicroScheduler
-- The MicroScheduler holds the single master copy of the progress meter, and doles it out to the TraversalEngines (currently 1 but in future commit there will be N).
-- Added a nice function to GenomeAnalysisEngine that returns the regions we will be processing, either the intervals requested or the whole genome.  Useful for progress meter but also probably for other infrastructure as well
-- Remove a lot of the sh*ting Bean interface getting and setting in MicroScheduler that's no longer useful.  The generic bean is just a shell interface with nothing in it.
-- By removing a lot of these bean accessors and setters many things are now final that used to be dynamic.
2012-09-10 20:14:13 -04:00
David Roazen d2f3d6d22f Revert "Separated out the DoC calculations from the XHMM pipeline, so that CalcDepthOfCoverage can be used for calculating joint coverage on a per-base accounting over multiple samples (e.g., family samples)"
This reverts commit 075c56060e0ffcce39631693ef39cf5f8c3a4d5a.
2012-09-10 15:52:39 -04:00
Menachem Fromer 0b717e2e2e Separated out the DoC calculations from the XHMM pipeline, so that CalcDepthOfCoverage can be used for calculating joint coverage on a per-base accounting over multiple samples (e.g., family samples) 2012-09-10 15:32:41 -04:00
Eric Banks d7499e0642 Updating the rank sum test documentation 2012-09-09 22:17:36 -04:00
Eric Banks 8ca205f1a9 Merge branch 'master' of ssh://gsa2/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-09-07 14:26:06 -04:00
Eric Banks b1677fc719 Fixed JIRA GSA-520 for Guillermo: when intervals with zero coverage were present, DiagnoseTargets was trying to merge them with the next interval (even if non-overlapping) which would cause problems later on when it checked to make sure that intervals were strictly overlapping. 2012-09-07 14:25:57 -04:00
Geraldine Van der Auwera 3f2a4379af Added forum API version stub to base URL for posting GATKDocs
This will prevent bugs from occurring when Vanilla make changes to the API
    as described here: http://vanillaforums.com/blog/api#configuration
    Based on the bug that broke the website Guide section on 9/6/12,
    the GATKDocs posting system will probably break in the next release if
    this is not applied as a bug fix.
2012-09-07 11:49:02 -04:00
Eric Banks ed3d9b050f Merge branch 'master' of ssh://gsa2/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-09-07 11:45:09 -04:00
Eric Banks 3dc248a49d Adding another test 2012-09-07 11:41:38 -04:00
Ryan Poplin 81b27f9db2 auto-merging to latest version 2012-09-07 11:36:47 -04:00
Eric Banks 41a8a304a0 Catch masked OutOfMemory errors as User Errors 2012-09-07 11:27:00 -04:00
Mark DePristo d62eca5d92 Update GATKPerformanceOverTime to measure -nt and -nct 2012-09-07 10:47:29 -04:00
Mark DePristo bf87de8a25 UnitTests for ReducerThread and InputProducer
-- Uncovered bug in ReducerThread in detecting abnormal case where jobs are coming in out of order
2012-09-07 09:51:32 -04:00
Mark DePristo c503884958 GSA-515 Nanoscheduler GSA-551 / Optimize nanoScheduling performance of UnifiedGenotyper
-- I've rewritten the entire NS framework to use a producer / consumer model for input -> map and from map -> reduce. This is allowing us to scale reasonably efficiently up to 4 threads (see figure). Future work on the nano scheduler will be itemized in a separate JIRA entry.
-- Restructured the NS code for clarity.  Docs everywhere.
-- This is considered version 1.0
2012-09-07 09:15:16 -04:00
Mark DePristo 9d12935986 Intermediate commit for new hyper parallel NanoScheduler
-- There's a logic bug now but I'll go to squash it...
2012-09-07 09:15:16 -04:00
Eric Banks 576c7280d9 Extensions to the ErrorThrowing framework for testing purposes 2012-09-06 22:03:18 -04:00
David Roazen cb84a6473f Downsampling: experimental engine integration
-Off by default; engine fork isolates new code paths from old code paths,
so no integration tests change yet

-Experimental implementation is currently BROKEN due to a serious issue
involving file spans. No one can/should use the experimental features
until I've patched this issue.

-There are temporarily two independent versions of LocusIteratorByState.
Anyone changing one version should port the change to the other (if possible),
and anyone adding unit tests for one version should add the same unit tests
for the other (again, if possible). This situation will hopefully be extremely
temporary, and last only until the experimental implementation is proven.
2012-09-06 15:03:27 -04:00
Eric Banks 6df6c1abd5 Fix for PBT to stop NPE when there are no likelihoods present 2012-09-06 13:14:18 -04:00
Mark DePristo 1b064805ed Renaming -cnt to -nct for consistency 2012-09-05 21:13:19 -04:00
Mark DePristo 574a8f710b Add static boolean controlled output of individual map call timing to nanoSecond resolution 2012-09-05 17:40:02 -04:00
Mark DePristo e11915aa0a GSA-515 Nanoscheduler GSA-550 ThreadSafeMapReduce shouldn't be super interface of TreeReducible 2012-09-05 17:37:56 -04:00
Mark DePristo c5f1ceaa95 All read and loci traversals go through NanoScheduler now
-- The NanoScheduler is doing a good job at tracking important information like time spent in map/reduce/input etc.
-- Can be disabled with static boolean in MicroScheduler if we have problems
-- See GSA-515 Nanoscheduler GSA-549 Retire TraverseReads and TraverseLoci after testing confirms nano scheduler version in single threaded version is fine
2012-09-05 16:38:21 -04:00
Mark DePristo dddf148a59 Fixed bug in ThreadAllocation getTotalNumberOfThreads
-- It isnt data + cpu its data * cpu threads.
2012-09-05 16:35:32 -04:00
Mark DePristo 9bf1d138d9 New GATK argument interface for data and cpu threads
-- Closes GSA-515 Nanoscheduler GSA-542 Good interface to nanoScheduler
-- Old -nt means dataThreads
-- New -cnt (--num_cpu_threads_per_data_thread) gives you n cpu threads for each data thread in the system
-- Cleanup logic for handling data and cpu threading in HMS, LMS, and MS
-- GATKRunReport reports the total number of threads in use by the GATK, not just the nt value
-- Removed the io,cpu tags for nt.  Stupid system if you ask me.  Cleaned up the GenomeAnalysisEngine and ThreadAllocation handling to be totally straightforward now
2012-09-05 15:45:24 -04:00
Mark DePristo 1e55475adc NanoScheduler uses ExecutorService to run input reader thread 2012-09-05 15:45:24 -04:00
Mark DePristo 71d9ebcb0d Fix bug (introduced by me) that didn't include contig in progress meter 2012-09-05 15:45:24 -04:00
Mark DePristo c822b7c760 Fix long-standing NPE in LMS due to inappropriate timing of initialization 2012-09-05 15:45:24 -04:00
Mark DePristo a997c99806 Initial NanoScheduler with input producer thread 2012-09-05 15:45:24 -04:00
Mark DePristo 03dd470ec1 Test for progressFunction in NanoScheduler; bugfix for single threaded fast path 2012-09-05 15:45:23 -04:00
Mark DePristo 8cdeb51b78 Cleanup printProgress in TraversalEngine
-- Separate updating cumulative traversal metrics from printing progress.  There's now an updateCumulativeMetrics function and a printProgress() that only takes a current position
-- printProgress now soles relies on the time since the last progress to decide if it will print or not.  No longer uses the number of cycles, since this isn't reliable in the case of nano scheduling
-- GenomeAnalysisEngine now maintains a pointer to the master cumulative metrics.  getCumulativeMetrics never returns null, which was handled in some parts of the code but not others.
-- Update all of the traversals to use the new updateCumulativeMetrics, printProgress model
-- Added progress callback to nano scheduler.  Every bufferSize elements this callback is invoked, allowing us to smoothly update the progress meter in the NanoScheduler
-- Rename MapFunction to NanoSchedulerMap and the same for reduce.
2012-09-05 15:45:23 -04:00
Mark DePristo d503ed97ab Mark I NanoScheduling TraverseLoci
-- Refactored TraverseLoci into old linear version and nano scheduling version
-- Temp. GATK argument to say how many nano threads to use
-- Can efficiently scale to 3 threads before blocking on input
2012-09-05 15:45:23 -04:00
Mark DePristo 757e6a0160 Making Pileup thread-safe
-- Old version relied on out printstream magically sorting output, new version puts the print in reduce
2012-09-05 15:45:23 -04:00
Mark DePristo d7105223fe More debugging output for NanoScheduler when debugging is enabled 2012-09-05 15:45:23 -04:00
Mark DePristo 9823102c0c TraverseReadsNano supports walker.filter and walker.done
-- Instead of returning directly the result of map(), returns a MapResult object with the value and a reduceMe flag.
-- Reduce function respects the reduceMe flag
-- Code cleanup and more documentation
2012-09-05 15:45:23 -04:00
Mark DePristo 1a8f5fc374 Trivial cleanup of NanoScheduler 2012-09-05 15:45:23 -04:00
Mark DePristo 6a5a70cdf1 Done GSA-539: SimpleTimer should use System.nanoTime for nanoSecond resolution 2012-09-05 15:45:23 -04:00
Mark DePristo 59109d5eeb NanoScheduler tracks time outside of its execute call 2012-09-05 15:45:23 -04:00
Mark DePristo 800a27c3a7 NanoScheduler tracks time within input, map, and reduce
-- Helpful for understanding where the time goes to each bit of the code.
-- Controlled by a local static boolean, to avoid the potential overhead in general
2012-09-05 15:45:23 -04:00
Mark DePristo 7087b22ea3 No debugging output (even conditional) for ReadTransformers in PrintReads 2012-09-05 15:45:23 -04:00
Mark DePristo e01258b261 NanoScheduler now supports printProgress. Bugfixes to printProgress
-- TraverseReadsNano prints progress at the end of each traversal unit
-- Fix bugs in TraversalEngine printProgress
    -- Synchronize the method so we don't get multiple logged outputs when two or more HMSs call printProgress before initialization at the start!
    -- Fix the logic for mustPrint, which actually had the logic of mustNotPrint.  Now we see the done log line that was always supposed to be there
    -- Fix output formatting, as the done() line was incorrectly shifting over the % complete by 1 char as 100.0% didn't fit in %4.1f
-- Add clearer doc on -PF argument so that people know that the performance log can be generated to standard out if one wants
2012-09-05 15:45:23 -04:00
Mark DePristo 6055101df8 NanoScheduler no longer groups inputs, each map() call is interlaced now
-- Maximizes the efficiency of the threads
-- Simplifies interface (yea!)
-- Reduces number of combinatorial tests that need to be performed
2012-09-05 15:45:22 -04:00
Yossi Farjoun ad5fa449e7 fixed a typo in the string comment 2012-09-05 14:46:10 -04:00
Ryan Poplin 84a83fd3f3 fixing typo 2012-09-05 10:41:03 -04:00
Eric Banks fc06f39411 Fixed docs for Pileup walker 2012-09-05 09:55:34 -04:00
Christopher Hartl d795437202 - New UserExceptions added for when ReadFilters or Walkers specified on the command line are not found. When -rf xxxx cannot find the class corresponding to xxxx, all read filters are printed in a better formatted way, with links to their gatk docs.
- VariantAnnotatorEngine changed to call genotype annotations even if pilups and allele -> likelihood mappings are not present. Current genotype annotations altered to check for null pilupes and null mappings.
2012-09-04 16:41:44 -04:00
Ryan Poplin 9cc1a9931b Resolving merge conflicts. 2012-09-04 10:47:38 -04:00
Ryan Poplin c9944d81ef Skip array needs to also be used in the updateDataForRead function of the delocalized BQSR. 2012-09-04 10:33:37 -04:00
Mark DePristo c9ea213c9b Make BaseRecalibration thread-safe
-- In the process uncovered two strange things
    1 -- qualityScoreByFullCovariateKey was created but never used.  Seems like a cache?
    2 -- Discovered nasty bug in BaseRecalibrator: https://jira.broadinstitute.org/browse/GSA-534
2012-08-31 13:42:42 -04:00
Mark DePristo 27ddebee53 Protect PrintReads from strange state from TraverseReadsUnitTests 2012-08-31 13:42:41 -04:00
Mark DePristo e028901d54 Fixed bad contract in ReadTransformer 2012-08-31 13:42:41 -04:00
Mark DePristo cf91d894e4 Fix build problems with tests 2012-08-31 13:42:41 -04:00
Mark DePristo 817ece37a2 General infrastructure for ReadTransformers
-- These are like read filters but can be applied either on input, on output, of handled by the walker
-- Previous example of BAQ now uses the general framework
    -- Resulted in massive conceptual cleanup of SAMDataSource and ReadProperties!  Yeah!
-- BQSR now uses this framework.  We can now do BQSR on input, on output, or within a walker
-- PrintReads now handles all read transformers in the walker in map, enabling us to parallelize PrintReads with BAQ and BQSR
-- Currently BQSR is excepting in parallel, which subsequent commit with fix
-- Removed global variable setting in GenomeAnalysisEngine for BAQ, as command line parameters are cleanly handled by ReadTransformer infrastructure
-- In principle ReadFilters are just a special kind of ReadTransformer, but this refactoring is larger than I can do. It's a JIRA entry
-- Many files touched simply due to the refactoring and renaming of classes
2012-08-31 13:42:41 -04:00
Ryan Poplin ff6ebbf3fd Resolving merge conflicts. 2012-08-31 11:25:55 -04:00
Mark DePristo 2f749b5e52 Added ThreadSafeMapReduce interface, super of TreeReducible
-- A higher level interface to declare parallelism capability of a walker.  This interface means that the walker can be multi-threaded, but doesn't necessarily support TreeReducible interface, which forces you to have a combine ReduceType operation that isn't appropriate for parallel read walkers
-- Updated ReadWalkers to implement ThreadSafeMapReduce not TreeReducible
2012-08-30 19:41:49 -04:00
Mark DePristo 544740d45d tasking for n threads should give you n threads in NanoScheduler, not n - 1 2012-08-30 19:41:49 -04:00
Mark DePristo 7a462399ce Fix GSA-529: Fix RODs for parallel read walkers
-- TraverseReadsNano modified to read in all input data before invoking maps, so the input to TraverseReadsNano is a MapData object holding the sam record, the ref context, and the refmetadatatracker.
-- Update ValidateRODForReads to be tree reducible, using synchronized map and explicitly sort the output map from locations -> counts in onTraversalDone
-- Expanded integration tests to test nt 1, 2, 4.
2012-08-30 19:41:49 -04:00
Mark DePristo 7d95176539 Bugfix to compareTo and equals in GenomeLoc
-- Yes, GenomeLoc.compareTo was broken.  The compareTo function only considered the contig and start position, but not the stop, when comparing genome locs.
-- Updated GenomeLoc.compareTo function to account for stop.  Updated GATK code where necessary to fix resulting problems that depended on this.
-- Added unit tests to ensure that hashcode, equals, and compareTo are all correct for GenomeLocs
2012-08-30 19:41:49 -04:00
Mark DePristo 5a9610d875 ReadShards now default to 10K (up from 1K) reads per samFile up to 250K
-- This should help make the inputs for parallel read walkers a little meater, and avoid spinning the shard creation infrastructure so often
2012-08-30 19:41:49 -04:00
Christopher Hartl 5a142fe265 After dicussion with Ryan/Eric, the Structural_Indel variant type is now gone, and has been entirely replaced with the access pattern .isStructuralIndel(). This makes it a strict subtype of indel. I agree that this method is a bit more sensible.
In addition, fix for GSA-310. If supplied -rf argument does not match a known read filter, the list of read filters will be printed, and users directed to the documentation for more information.
2012-08-30 17:57:31 -04:00
Mark DePristo 82b2845b9f Fix: GSA-531 ApplyRecalibration writing to BCF: java.lang.String cannot be cast to java.lang.Double
-- LOD must be added a double to attributes, not as string, so that it can be written out as BCF
2012-08-30 16:59:57 -04:00
Ryan Poplin 7b366d4049 misc cleanup in active region traversal. 2012-08-30 11:01:01 -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 53376b9423 Part III of GSA-462: Consistent RODBinding access across Ref and Read trackers
-- shardSpan is only calculated when there some ROD is live in the GATK.  No sense in paying the cost per read when you don't need it
-- Update contract to allow null span or unmapped span (good catch unittests!)
2012-08-30 10:15:10 -04:00
Mark DePristo 1200848bbf Part II of GSA-462: Consistent RODBinding access across Ref and Read trackers
-- Deleted ReadMetaDataTracker
-- Added function to ReadShard to give us the span from the left most position of the reads in the shard to the right most, which is needed for the new view
2012-08-30 10:15:10 -04:00
Mark DePristo 972be8b4a4 Part I of GSA-462: Consistent RODBinding access across Ref and Read trackers
-- ReadMetaDataTracker is dead!  Long live the RefMetaDataTracker.  Read walkers will soon just take RefMetaDataTracker objects.  In this commit they take a class that trivially extends them
-- Rewrote ReadBasedReferenceOrderedView to produce RefMetaDataTrackers not the old class.
    -- This new implementation produces thread-safe objects (i.e., holds no points to shared state).  Suitable for use (to be tested) with nano scheduling
    -- Simplified interfaces to use the simplest data structures (PeekableIterator) not the LocusAwareSeekableIterator, since I both hate those classes and this is on the long term trajectory to remove those from the GATK entirely.
-- Massively expanded DataProvider unit tests for ReadBasedReferenceOrderedView
-- Note that the old implementation of offset -> ROD in ReadRefMetaDataTracker was broken for any read not completely matching the reference.  Rather than provide broken code the ReadMetaDataTracker only provides a "bag of RODs" interface.  If you want to work with the relationship between the read and the RODs in your tool you need to manage the CIGAR element itself.
    -- This commit breaks the new read walker BQSR, but Ryan knows this is coming
-- Subsequent commit will be retiring / fixing ValidateRODForReads
2012-08-30 10:15:10 -04:00
Mark DePristo 8fc6a0a68b Cleanup RefMetaDataTracker before refactoring ReadMetaDataTracker 2012-08-30 10:13:06 -04:00
Ryan Poplin b85ded8389 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-30 10:11:48 -04:00