Commit Graph

3232 Commits (0f5bb706ffd3e02a2fec45f32317f29e4e45cb6d)

Author SHA1 Message Date
Tad Jordan 6cb80591e3 PrintReads writes a header when used with -BQSR 2013-02-14 22:19:14 -05:00
Yossi Farjoun 3a7c8c13e2 Re-enabled fastBAMindexing by replacing the FileChannel with a SeekableBufferedStream
This helps a lot since FileChannel is very low-level and traversing the BAMIndex involves lots of short reads.

- Fixed a deterioration in BAMIndex due to rev'ed picard (see below)
- Added unit tests for SeekableBufferedStream
- Added integrationTests for GATKBAMIndex (in PileupWalkerIntegrationTest)
- Added a runtime-test to verify that the amount read equals the amount requested.
- Added failing tests with expectedExceptions
- Used a DataProvider to make code nicer
2013-02-14 17:51:15 -05:00
Geraldine Van der Auwera 6208742f7c Refactored GATKDocs categories some more ( GSATDG-62 )
-- Renamed ValidatePileup to CheckPileup since validation is reserved word
-- Renamed AlignmentValidation to CheckAlignment (same as above)
-- Refactored category definitions to use constants defined in HelpConstants
-- Fixed a couple of minor typos and an example error
-- Reorganized the GATKDocs index template to use supercategories
-- Refactored integration tests for renamed walkers (my earlier refactoring had screwed them up or not carried over)
2013-02-13 16:49:18 -05:00
Guillermo del Angel 4308b27f8c Fixed non-determinism in HaplotypeCaller and some UG calls -
-- HaplotypeCaller and PerReadAlleleLikelihoodMap should use LinkedHashMaps instead of plain HashMaps. That way the ordering when traversing alleles is maintained. If the JVM traverses HashMaps with random ordering, different reads (with same likelihood) may be removed by contamination checker, and different alleles may be picked if they have same likelihoods for all reads.
-- Put in some GATKDocs and contracts in HaplotypeCaller files (far from done, code is a beast)
-- Update md5's due to different order of iteration in LinkedHashMaps instead of HashMaps inside HaplotypeCaller  (due to change in PerReadAlleleLikelihoodMap that also slightly modifies reads chosen by per-read downsampling).
-- Reenabled testHaplotypeCallerMultiSampleGGAMultiAllelic test
-- Added some defensive argument checks into HaplotypeCaller public functions (not intended to be done yet).
2013-02-12 15:43:29 -05:00
Geraldine Van der Auwera dff5ef562b Reorganized walker categories in GATKDocs (@DocumentedGATKFeature details)
-- Sorted out contents of BAM Processing vs. Diagnostics & QC Tools
-- Moved two validation-related walkers from Diagnostics & QC to Validation Utilities
-- Reworded some category names and descriptions to be more explicit and user-friendly
2013-02-12 13:36:15 -05:00
Mark DePristo e40d83f00e Final version of PairHMMs with correct edge conditions
-- Uses 1/N for N potential start sites as the probability of starting at any one of the potential start sites
-- Add flag that says to use the original edge condition, respected by all subclasses.  This brings the new code back to the original state, but with all of the cleanup I've done
-- Only test configurations where the read length <= haplotype length.  I think this is actually the contract, but we'll talk about this tomorrow
-- Fix egregious bug with the myLog10SumLog10 function doing the exact opposite of the requested arguments, so that doExact really meant don't do exact
-- PairHMM now exposes computeReadLikelihoodGivenHaplotypeLog10 but subclasses must overload subComputeReadLikelihoodGivenHaplotypeLog10.  This protected function does the work, and the public function will do argument and result QC
-- Have to be more tolerant of reference (approximate) HMM.  All unit tests from the original HMM implementations pass now
-- Added locs of docs
-- Generalize unit tests with multiple equivalent matches of read to haplotype
-- Added runtime argument checking for initial and computeReadLikelihoodGivenHaplotypeLog10
-- Functions to dumpMatrices for debugging
-- Fix nasty bug (without original unit tests) in LoglessPairHMM
-- Max read and haplotype lengths only worked in previous code if they were exactly equal to the provided read and haplotype sizes.  Fixed bug.  Added unit test to ensure this doesn't break again.
-- Added dupString(string, n) method to Utils
-- Added TODOs for next commit.  Need to compute number of potential start sites not in initialize but in the calc routine since this number depends not on the max sizes but the actual read sizes
-- Unit tests for the hapStartIndex functionality of PairHMM
-- Moved computeFirstDifferingPosition to PairHMM, and added unit tests
-- Added extensive unit tests for the hapStartIndex functionality of computeReadLikelihoodGivenHaplotypeLog10
-- Still TODOs left in the code that I'll fix up
-- Logless now compute constants, if they haven't been yet initialized, even if you forgot to say so
-- General: the likelihood penalty for potential start sites is now properly computed against the actual read and reference bases, not the maximum.  This involved moving some initialize() code into the computeLikelihoods function.  That's ok because all of the potential log10 functions are actually going to cached versions, so the slowdown is minimal
-- Added some unit tests to ensure that common errors (providing haplotypes too long, reads too long, not initializing the HMM) are captured as errors
2013-02-09 19:19:22 -05:00
Mark DePristo 09595cdeb9 Remove ExactPairHMM and OriginalPairHMM, everyone just uses Log10PairHMM with appropriate arguments 2013-02-09 13:06:54 -05:00
Mark DePristo 2d802e17a4 Delete the CachingPairHMM 2013-02-09 13:06:54 -05:00
Mark DePristo 7dcafe8b81 Preliminary version of LoglessCachingPairHMM that avoids positive likelihoods
-- Would have been squashed but could not because of subsequent deletion of Caching and Exact/Original PairHMMs
-- Actual working unit tests for PairHMMUnitTest
-- Fixed incorrect logic in how I compared hmm results to the theoretical and exact results
-- PairHMM has protected variables used throughout the subclasses
2013-02-09 13:06:54 -05:00
MauricioCarneiro 3ff10ab277 Merge pull request #24 from broadinstitute/md_ngsplatform_unittests
Expand NGSPlatform to meet SAM 1.4 spec, with full unit tests
2013-02-09 09:27:03 -08:00
Mark DePristo b127fc6a1a Expand NGSPlatform to meet SAM 1.4 spec, with full unit tests
-- Added CAPILLARY and HELICOS platforms as required by spec 1.4
-- Added extensive unit tests to ensure NGSPlatform functions work as expected.
-- Fixed some NPE bugs for reads that don't have RGs or PLs in their RG fields
2013-02-09 11:16:21 -05:00
Mark DePristo 7fb620dce7 Generalize and fixup ContigComparator
-- Now uses a SAMSequenceDictionary to do the comparison of contigs (which is the right way to do it)
-- Added unit tests
2013-02-09 09:52:13 -05:00
Mark DePristo a3dc7dc5cb Extend AWS timeout for uploads of the GATK run reports to 30 seconds 2013-02-08 17:37:36 -05:00
Mauricio Carneiro 5f49c95cc1 Added distance across contigs calculation to GenomeLocs
-- distance across contigs is calculated given a sequence dictionary (from SAMFileHeader)
-- unit test added
GSATDG-45
2013-02-07 16:31:41 -05:00
Eric Banks 9826192854 Added contracts, docs, and tests for several methods in AlignmentUtils. There are over 74K tests being run now for this class!
* AlignmentUtils.getMismatchCount()
* AlignmentUtils.calcAlignmentByteArrayOffset()
* AlignmentUtils.readToAlignmentByteArray().
* AlignmentUtils.leftAlignIndel()
2013-02-07 13:04:24 -05:00
eitanbanks 584899329c Merge pull request #13 from broadinstitute/dr_variant_migration_GSA-692
Replace org.broadinstitute.variant with jar built from the Picard repo
2013-02-06 07:22:30 -08:00
Eric Banks 562f2406d7 Added check that BaseRecalibrator is not being run on a reduced bam.
- Throws user exception if it is.
 - Can be turned off with --allow_bqsr_on_reduced_bams_despite_repeated_warnings argument.
 - Added test to check this is working.
 - Added docs to BQSRReadTransformer explaining why this check is not performed on PrintReads end.
 - Added small bug fix to GenomeAnalysisEngine that I uncovered in this process.
 - Added comment about not changing the program record name, as per reviewer comments.
 - Removed unused variable.
2013-02-06 10:14:27 -05:00
Eric Banks 4e5ff3d6f1 Bug fix for NPE in HC with --dbsnp argument.
- I had added the framework in the VA engine but should not have hooked it up to the HC yet since the RefMetaDataTracker is always null.
 - Added contracts and docs to the relevant methods in the VA engine so that this doesn't happen in the future.
2013-02-05 21:59:19 -05:00
David Roazen e7e76ed76e Replace org.broadinstitute.variant with jar built from the Picard repo
The migration of org.broadinstitute.variant into the Picard repo is
complete. This commit deletes the org.broadinstitute.variant sources
from our repo and replaces it with a jar built from a checkout of the
latest Picard-public svn revision.
2013-02-05 17:24:25 -05:00
MauricioCarneiro 050c4794a5 Merge pull request #11 from yfarjoun/per_sample2
-Added Per-Sample Contamination Removal to UnifiedGenotyper: Added an @A...
2013-02-05 08:04:29 -08:00
Eric Banks 00c98ff0cf Need to reset the static counter before tests are run or else we won't be deterministic.
Also need to give credit where credit is due: David was right that this was not a non-deterministic Bamboo failure...
2013-02-05 10:41:46 -05:00
Yossi Farjoun de03f17be4 -Added Per-Sample Contamination Removal to UnifiedGenotyper: Added an @Advanced option to the StandardCallerArgumentCollection, a file which should
contain two columns, Sample (String) and Fraction (Double) that form the Sample-Fraction map for the per-sample AlleleBiasedDownsampling.
-Integration tests to UnifiedGenotyper (Using artificially contaminated BAMs created from a mixure of two broadly concented samples) were added
-includes throwing an exception in HC if called using per-sample contamination file (not implemented); tested in a new integration test.
-(Note: HaplotypeCaller already has "Flat" contamination--using the same fraction for all samples--what it doesn't have is
   _per-sample_ AlleleBiasedDownsampling, which is what has been added here to the UnifiedGenotyper.
-New class: DefaultHashMap (a Defaulting HashMap...) and new function: loadContaminationFile (which reads a Sample-Fraction file and returns a map).
-Unit tests to the new class and function are provided.
-Added tests to see that malformed contamination files are found and that spaces and tabs are now read properly.
-Merged the integration tests that pertain to biased downsampling, whether HaplotypeCaller or unifiedGenotyper, into a new IntegrationTest class.
2013-02-04 18:24:36 -05:00
Mark DePristo a281fa6548 Resolves Genome Sequence Analysis GSA-750 Don't print an endless series of starting messages from the ProgressMeter
-- The progress meter isn't started until the GATK actually calls execute on the microscheduler.  Now we get a message saying "Creating shard strategy" while this (expensive) operation runs
2013-02-04 15:47:30 -05:00
Chris Hartl 3c99010be4 Part 1 of Variant Annotator Unit tests: PerReadAlleleLikelihoodMap
- Added contract enforcement for public methods
 - Refactored the conversion from read -> (allele -> likelihood) to allele -> list[read] into its own method
 - added method documentation for non getters/setters
 - finals, finals everywhere
 - Add in a unit test for the PerReadAlleleLikelihoodMap. Complete coverage except for .clear() and a method that is a straight call into a separately-tested utility class.
2013-02-04 14:16:06 -05:00
Guillermo del Angel 5521bf3dd7 Fix bad contract implementation 2013-02-03 16:15:14 -05:00
Guillermo del Angel f31bf37a6f First step in better BQSR unit tests for covariates (not done yet): more test coverage in basic covariates, test logging several read groups/read lengths and more combinations simultaneously.
Add basic Javadocs headers for PerReadAlleleLikehoodMap.
2013-02-03 15:31:30 -05:00
Mark DePristo 8d08780582 GATKRunReport now tracks the errorMessage and errorThrown during post for later analysis
-- This is primarily useful in the unit tests, as I now print out additional information on why a test might have failed, if it in fact did.
2013-02-02 19:24:31 -05:00
Mark DePristo 6382d5bdc9 Final cleanup and unit testing for GATKRunReport
-- Bringing code up to document, style, and code coverage specs
-- Move GATKRunReportUnitTest to private
-- Fully expand GATKRunReportUnitTests to coverage writing and reading GATKRunReport to local disk, to standard out, to AWS.
-- Move documentation URL from GATKRunReport to UserException
-- Delete a few unused files from s3GATKReport
-- Added capabilities to GATKRunReport to make testing easier
-- Added capabilities to deserialize GATKRunReports from an InputStream
2013-02-02 15:06:56 -05:00
Mark DePristo eb17230c2f Update AWS access and private keys to the new GATK2LogUploader user
-- Updated EncryptAWSKeys to write the key into the correct resources directory
2013-02-02 15:06:56 -05:00
Eric Banks 03df5e6ee6 - Added more comprehensive tests for consensus creation to RR. Still need to add tests for I/D ops.
- Added RR qual correctness tests (note that this is a case where we don't add code coverage but still need to test critical infrastructure).
- Also added minor cleanup of BaseUtils
2013-02-01 15:37:19 -05:00
David Roazen c4b0ba4d45 Temporarily back out the Picard team's patches to GATKBAMIndex from December
These patches to GATKBAMIndex are causing massive BAM index reading errors in
combination with the latest version of Picard. The bug is either in the patches
themselves or in the underlying SeekableBufferedStream class they rely on. Until
the cause can be identified, we are temporarily backing out these changes so that
we can continue to run with the latest Picard/Tribble.

This reverts commits:
81483ec21e528790dfa719d18cdee27d577ca98e
68cf0309db490b79eecdabb4034987ff825ffea8
54bb68f28ad5fe1b3df01702e9c5e108106a0176
2013-02-01 13:51:31 -05:00
David Roazen 1fb182d951 Restore Utils.appendArray()
This utility method was used by the PipelineTest class, and deleting it
was causing tests to not compile.
2013-02-01 13:51:31 -05:00
Mark DePristo 6d9816f1a5 Cleanup unused utils functions, and add unit test for one (append) 2013-02-01 13:51:31 -05:00
Mark DePristo 206eab80e3 Expanded unit tests for AlignmentUtils
-- Added JIRA entries for the remaining capabilities to be fixed up and unit tested
2013-02-01 13:51:31 -05:00
David Roazen 292037dfda Rev picard, sam-jdk, and tribble
This is a necessary prerequisite for the org.broadinstitute.variant migration.

-Picard and sam-jdk go from version 1.67.1197 to 1.84.1337

-Picard-private goes from version 2375 to 2662

-Tribble goes from version 119 to 1.84.1337

-RADICALLY trimmed down the list of classes we extract from Picard-private
 (jar goes from 326993 bytes to 6445 bytes!)
2013-02-01 13:51:30 -05:00
Ryan Poplin e07cefb058 Updating AlignmentUtils.consolidateCigar() to the GATK coding standards. 2013-02-01 13:51:30 -05:00
Mark DePristo c3c4e2785b UnitTest for calcNumHighQualityBases in AlignmentUtils 2013-01-31 13:57:23 -05:00
David Roazen 6ec1e613a2 Move AWS keys to a resources subdirectory within the phonehome package
Resources must be in a subdirectory called "resources" in the package
hierarchy to be picked up by the packaging system. Adding each resource
manually to the jars in build.xml does not cause the resource to be
added to the standalone GATK jar when we package the GATK, so it's best
to always use this convention.
2013-01-31 11:56:34 -05:00
Ryan Poplin 496727ac5e Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-31 11:51:08 -05:00
Ryan Poplin ac033ce41a Intermediate commit of new bubble assembly graph traversal algorithm for the HaplotypeCaller. Adding functionality for a path from an assembly graph to calculate its own cigar string from each of the bubbles instead of doing a massive Smith-Waterman alignment between the path's full base composition and the reference. 2013-01-31 11:32:19 -05:00
Eric Banks 9c0207f8ef Fixing BQSR/BAQ bug:
If a read had an existing BAQ tag, was clipped by our engine, and couldn't have the BAQ recalculated (for whatever reason), then we would
fail in the BQSR because we would default to using the old tag (which no longer matched the length of the read bases).
The right thing to do here is to remove the old BAQ tag when RECALCULATE and ADD_TAG are the BAQ modes used but BAQ cannot be recalculated.
Added a unit test to ensure that the tags are removed in such a case.
2013-01-31 11:03:17 -05:00
Mark DePristo 404ee9a6e4 More aggressive checking of AWS key quality upon startup in the GATK 2013-01-31 09:08:38 -05:00
Ryan Poplin 438c98035b Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-30 17:12:28 -05:00
Ryan Poplin bb29bd7df7 Use base List and Map types in the HaplotypeCaller when possible. 2013-01-30 17:09:27 -05:00
Mark DePristo b707331332 Encrypt GATK AWS keys using the GATK private key, and decrypt as needed as a resource when uploading to AWS logs
-- Has the overall effect that the GATK user AWS keys are no longer visible in the gatk source as plain text.  This will stop AWS from emailing me (they crawl the web looking for keys)
-- Added utility EncryptAWSKeys that takes as command line arguments the GATK user AWS access and secret keys, encrypts them with the GATK private key, and writes out the resulting file to resources in phonehome.
-- GATKRunReport now decrypts as needed these keys using the GATK public key as resources in the GATK bundle
-- Refactored the essential function of Resource (reading the resource) from IOUtils into the class itself.  Now how to get the data in the resouce is straightforward
-- Refactored md5 calculation code from a byte[] into Utils.  Added unit tests
-- Committing the encrypted AWS keys
-- #resolves https://jira.broadinstitute.org/browse/GSA-730
2013-01-30 16:42:23 -05:00
David Roazen 591df2be44 Move additional VariantContext utility methods back to the GATK
Thanks to Eric for his feedback
2013-01-30 13:58:17 -05:00
David Roazen 9985f82a7a Move BaseUtils back to the GATK by request, along with associated utility methods 2013-01-30 13:09:44 -05:00
Eric Banks d067c7f136 Resolving merge conflicts 2013-01-30 10:47:59 -05:00
Eric Banks 9025567cb8 Refactoring the SimpleGenomeLoc into the now public utility UnvalidatingGenomeLoc and the RR-specific FinishedGenomeLoc.
Moved the merging utility methods into GenomeLoc and moved the unit tests around accordingly.
2013-01-30 10:45:29 -05:00
Mark DePristo 4852c7404e GenomeLocs are already comparable, so I'm removing the less complete GenomeLocComparator class and updating ReduceReads and CompressionStash to use built-in comparator 2013-01-30 10:12:27 -05:00
Mark DePristo 45603f58cd Refactoring and unit testing GenomeLocParser
-- Moved previously inner class to MRUCachingSAMSequenceDictionary, and unit test to 100% coverage
-- Fully document all functions in GenomeLocParser
-- Unit tests for things like parsePosition (shocking it wasn't tested!)
-- Removed function to specifically create GenomeLocs for VariantContexts.  The fact that you must incorporate END attributes in the context means that createGenomeLoc(Feature) works correctly
-- Depreciated (and moved functionality) of setStart, setStop, and incPos to GenomeLoc
-- Unit test coverage at like 80%, moving to 100% with next commit
2013-01-30 09:47:47 -05:00
Mark DePristo 8562bfaae1 Optimize GenomeLocParser.createGenomeLoc
-- The new version is roughly 2x faster than the previous version.  The key here was to cleanup the workflow for validateGenomeLoc and remove the now unnecessary synchronization blocks from the CachingSequencingDictionary, since these are now thread local variables
-- #resolves https://jira.broadinstitute.org/browse/GSA-724
2013-01-30 09:47:47 -05:00
Mark DePristo 92c5635e19 Cleanup, document, and unit test ActiveRegion
-- All functions tested.  In the testing / review I discovered several bugs in the ActiveRegion routines that manipulate reads.  New version should be correct
-- Enforce correct ordering of supporting states in constructor
-- Enforce read ordering when adding reads to an active region in add
-- Fix bug in HaplotypeCaller map with new updating read spans.  Now get the full span before clipping down reads in map, so that variants are correctly placed w.r.t. the full reference sequence
-- Encapsulate isActive field with an accessor function
-- Make sure that all state lists are unmodifiable, and that the docs are clear about this
-- ActiveRegion equalsExceptReads is for testing only, so make it package protected
-- ActiveRegion.hardClipToRegion must resort reads as they can become out of order
-- Previous version of HC clipped reads but, due to clipping, these reads could no longer overlap the active region.  The old version of HC kept these reads, while the enforced contracts on the ActiveRegion detected this was a problem and those reads are removed.  Has a minor impact on PLs and RankSumTest values
-- Updating HaplotypeCaller MD5s to reflect changes to ActiveRegions read inclusion policy
2013-01-30 09:47:12 -05:00
Mauricio Carneiro 29fd536c28 Updating licenses manually
Please check that your commit hook is properly pointing at ../../private/shell/pre-commit

Conflicts:
	public/java/test/org/broadinstitute/variant/VariantBaseTest.java
2013-01-29 17:27:53 -05:00
David Roazen a536e1da84 Move some VCF/VariantContext methods back to the GATK based on feedback
-Moved some of the more specialized / complex VariantContext and VCF utility
 methods back to the GATK.

-Due to this re-shuffling, was able to return things like the Pair class back
 to the GATK as well.
2013-01-29 16:56:55 -05:00
Ami Levy-Moonshine a1908a0eca Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-29 16:33:20 -05:00
Ami Levy-Moonshine 4aaef495c6 correct the help message 2013-01-29 16:33:12 -05:00
Ryan Poplin bf25196a0b Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-28 22:33:13 -05:00
Ryan Poplin e9c3a0acdf fix typo 2013-01-28 22:18:58 -05:00
Ami Levy-Moonshine a8a68697f1 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-28 20:18:51 -05:00
Guillermo del Angel 5995f01a01 Big intermediate commit (mostly so that I don't have to go again through merge/rebase hell) in expanding BQSR capabilities. Far from done yet:
a) Add option to stratify CalibrateGenotypeLikelihoods by repeat - will add integration test in next push.
b) Simulator to produce BAM files with given error profile - for now only given SNP/indel error rate can be given. A bad context can be specified and if such context is present then error rate is increased to given value.
c) Rewrote RepeatLength covariate to do the right thing - not fully working yet, work in progress.
d) Additional experimental covariates to log repeat unit and combined repeat unit+length. Needs code refactoring/testing
2013-01-28 19:55:46 -05:00
Ami Levy-Moonshine 3f5c2e4989 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-28 19:04:52 -05:00
Ami Levy-Moonshine c103623cf6 bug fix in my new function at SampleUtils.java 2013-01-28 19:04:39 -05:00
Ryan Poplin d665a8ba0c The Bayesian calculation of Qemp in the BQSR is now hierarchical. This fixes issues in which the covariate bins were very sparse and the prior estimate being used was the original quality score. This resulted in large correction factors for each covariate which breaks the equation. There is also now a new option, qlobalQScorePrior, which can be used to ignore the given (very high) quality scores and instead use this value as the prior. 2013-01-28 15:56:33 -05:00
Tad Jordan 8777e02aa5 R issue in Queue fixed.
GSA-721
2013-01-28 14:42:20 -05:00
David Roazen f63f27aa13 org.broadinstitute.variant refactor, part 2
-removed sting dependencies from test classes
-removed org.apache.log4j dependency
-misc cleanup
2013-01-28 09:03:46 -05:00
David Roazen 3744d1a596 Collapse the downsampling fork in the GATK engine
With LegacyLocusIteratorByState deleted, the legacy downsampling implementation
was already non-functional. This commit removes all remaining code in the
engine belonging to the legacy implementation.
2013-01-28 01:50:30 -05:00
Mark DePristo 14d8afe413 Remove startSearchAt state variable from ActivityProfile
-- New algorithm will only try to create an active region if there's at least maxREgionSize + propagation distance states in the list.  When that's true, we are guaranteed to actually find a region.  So this algorithm is not only truly correct but as super fast, as we only ever do the search for the end of the region when we will certainly find one, and actually generate a region.
2013-01-27 14:10:08 -05:00
Mark DePristo c97a361b5d Added realistic BandPassFilterUnitTest that ensures quality results for 1000G phase I VCF and NA12878 VCF
-- Helped ID more bugs in the ActivityProfile, necessitating a new algorithm for popping off active regions.  This new algorithm requires that at least maxRegionSize + prob. propagation distance states have been examined.  This ensures that the incremental results are the same as you get reading in an entire profile and running getRegions on the full profile
-- TODO is to remove incremental search start algorithm, as this is no longer necessary, and nicely eliminates a state variable I was always uncomfortable with
2013-01-27 14:10:08 -05:00
Mark DePristo 72b2e77eed Linearize the findEndOfRegion algorithm in ActivityProfile, radically improving its performance
-- Previous algorithm was O(N^2)
-- #resolve GSA-723 https://jira.broadinstitute.org/browse/GSA-723
2013-01-27 14:10:06 -05:00
Mark DePristo 0fb238b61e TraverseActiveRegions Optimizations and Bugfixes: make sure to record position of current locus to discharge active regions when there's no data
-- Now records the position of the current locus, as well as that of the last read.  Necessary when passing through regions with no reads.  The previous version would keep accumulating empty active regions, and never discharge them until end of traversal (if there was no reads in the future) or until a read was finally found
-- Protected a call to logger.debug with if ( logger.isDebugEnabled()) to avoid a lot of overhead in writing unseen debugger logging information
2013-01-27 14:10:06 -05:00
Mark DePristo 93d88cdc68 Optimization: LocusReferenceView now passes along the contig index to createGenomeLoc, speeding up their creation
-- Also cleaned up some unused methods
2013-01-27 14:10:06 -05:00
Mark DePristo 52a28968a9 ART optimization: BandPassActivityProfile only applies the gaussian filter if the state probability > 0 2013-01-27 14:10:06 -05:00
Mauricio Carneiro 705cccaf63 Making SplitReads output FastQ's instead of BAM
- eliminates one step in my pipeline
   - BAM is too finicky and maintaining parameters that wouldn't be useful was becoming a headache, better avoided.
2013-01-27 02:36:31 -05:00
Mauricio Carneiro 6ea7133d95 Updating licenses of latest moved files 2013-01-26 13:46:52 -05:00
Ami Levy-Moonshine 99cb8d68e9 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-25 16:07:38 -05:00
Mark DePristo b8c0b05785 Add contract to ensure that getAdapterBoundary returns the right result
-- Also renamed the function to getAdaptorBoundary for consistency across the codebase
2013-01-25 16:05:17 -05:00
Mark DePristo e445c71161 LIBS optimization for adapter clipping
-- GATKSAMRecords now cache the result of the getAdapterBoundary, allowing us to avoid repeating a lot of work in LIBS
-- Added unittests to cover adapter clipping
2013-01-25 16:05:17 -05:00
Ami Levy-Moonshine b4447cdca2 In cases where one uses VariantContextUtils.GenotypeMergeType.REQUIRE_UNIQUE we used to verify that the samples names are unique in VariantContextUtils.simpleMerge for each VCs. It couse to a bug that was reported on the forum (when a VCs had 2 VC from the same sample).
Now we will check it only in CombineVariants.init using the headers. A new function was added to SamplesUtils with unitTests in CVunitTest.java.
2013-01-25 15:49:51 -05:00
Ami Levy-Moonshine fc22a5c71c Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-25 11:47:38 -05:00
Ami Levy-Moonshine eaf6279d48 adding RBP to the general calling pipeline and few other small changes to it (to make it run with the current bundel file names 2013-01-25 11:47:30 -05:00
Mark DePristo 008b617577 Cleanup the getLIBS function in LocusIterator
-- Now throws an UnsupportedOperationException in the base class.  Only LocusView implements this function and actually returns the LIBS
2013-01-25 11:07:28 -05:00
Eric Banks 6dd0e1ddd6 Pulled out the --regenotype functionality from SelectVariants into its own tool: RegenotypeVariants.
This allows us to move SelectVariants into the public suite of tools now.
2013-01-25 09:42:04 -05:00
Mark DePristo c7a29b1d39 Fixed NPE in ActiveRegionUnitTest by allowing null supporting states in ActiveRegion 2013-01-24 13:48:00 -05:00
Mark DePristo 592f90aaef ActivityProfile now cuts intelligently at the best local minimum when in a larger than max size active region
-- This new algorithm is essential to properly handle activity profiles that have many large active regions generated from lots of dense variant events.  The new algorithm passes unit tests and passes visualize visual inspection of both running on 1000G and NA12878
-- Misc. commenting of the code
-- Updated ActiveRegionExtension to include a min active region size
-- Renamed ActiveRegionExtension to ActiveRegionTraversalParameters, as it carries more than just the traversal extension now
2013-01-24 13:48:00 -05:00
Mark DePristo c96b64973a Soft clip probability propagation is capped by the MAX_PROB_PROPAGATION_DISTANCE, which is 50 bp 2013-01-24 13:48:00 -05:00
Mark DePristo 0c94e3d96e Adaptively compute the band pass filter from the sigma, up to a maximum size of 50 bp
-- Previously we allowed band pass filter size to be specified along with the sigma.  But now that sigma is controllable from walkers and from the command line, we instead compute the filter size given the kernel from the sigma, including all kernel points with p > 1e-5 in the kernel.  This means that if you use a smaller kernel you get a small band size and therefore faster ART
-- Update, as discussed with Ryan, the sigma and band size to 17 bp for HC (default ART wide) and max band size of 50 bp
2013-01-24 13:47:59 -05:00
Mark DePristo 9e43a2028d Making band pass filter size, sigma, active region max size and extension all accessible from the command line 2013-01-24 13:47:59 -05:00
Mark DePristo cd91e365f4 Optimize getCurrentContigLength and getLocForOffset in ActivityProfile 2013-01-24 13:47:59 -05:00
Eric Banks 6790e103e0 Moving lots of walkers back from protected to public (along with several of the VA annotations).
Let's see whether Mauricio's automatic git hook really works!
2013-01-24 11:42:49 -05:00
Mark DePristo 09edc6baeb TraverseActiveRegions now writes out very nice active region and activity profile IGV formatted files 2013-01-23 13:46:01 -05:00
Mark DePristo 8e8126506b Renaming IncrementalActivityProfile to ActivityProfile
-- Also adding a work in progress functionality to make it easy to visualize activity profiles and active regions in IGV
2013-01-23 13:46:01 -05:00
Mark DePristo e917f56df8 Remove old ActivityProfile and old BandPassActivityProfile 2013-01-23 13:46:01 -05:00
Mark DePristo 7fd27a5167 Add band pass filtering activity profile
-- Based on the new incremental activity profile
-- Unit Tested!  Fixed a few bugs with the old band pass filter
-- Expand IncrementalActivityProfileUnitTest to test the band pass filter as well for basic properties
-- Add new UnitTest for BandPassIncrementalActivityProfile
-- Added normalizeFromRealSpace to MathUtils
-- Cleanup unused code in new activity profiles
2013-01-23 13:46:01 -05:00
Mark DePristo eb60235dcd Working version of incremental active region traversals
-- The incremental version now processes active regions as soon as they are ready to be processed, instead of waiting until the end of the shard as in the previous version.  This means that ART walkers will now take much less memory than previously.  On chr20 of NA12878 the majority of regions are processed with as few as 500 reads in memory.  Over the whole chr20 only 5K reads were ever held in ART at one time.
-- Fixed bug in the way active regions worked with shard boundaries.  The new implementation no longer see shard boundaries in any meaningful way, and that uncovered a problem that active regions were always being closed across shard boundaries.  This behavior was actually encoded in the unit tests, so those needed to be updated as well.
-- Changed the way that preset regions work in ART.  The new contract ensures that you get exactly the regions you requested.  the isActive function is still called, but its result has no impact on the regions.  With this functionality is should be possible to use the HC as a generic assembly by forcing it to operate over very large regions
-- Added a few misc. useful functions to IncrementalActivityProfile
2013-01-23 13:46:00 -05:00
Mark DePristo ce160931d5 Optimize creation of reads in ArtificialBAMBuilder
-- Now caches the reads so subsequent calls to makeReads() don't reallocate the reads from scratch each time
2013-01-23 13:46:00 -05:00
Mark DePristo e050f649fd IncrementalActivityProfile, complete with extensive unit tests
-- This is an activity profile compatible with fetching its implied active regions incrementally, as activity profile states are added
2013-01-23 13:45:21 -05:00
Mark DePristo 8d9b0f1bd5 Restructure ActivityProfiler into root class ActivityProfile and derived class BandPassActivityProfile
-- Required before I jump in an redo the entire activity profile so it's can be run imcrementally
-- This restructuring makes the differences between the two functionalities clearer, as almost all of the functionality is in the base class. The only functionality provided by the BandPassActivityProfile is isolated to a finalizeProfile function overloaded from the base class.
-- Renamed ActivityProfileResult to ActivityProfileState, as this is a clearer indication of its actual functionality.  Almost all of the misc. walker changes are due to this name update
-- Code cleanup and docs for TraverseActiveRegions
-- Expanded unit tests for ActivityProfile and ActivityProfileState
2013-01-23 13:45:21 -05:00
Mauricio Carneiro 7b8b064165 Last manual license update (hopefully)
if everyone updates their git hook accordingly, this will be the last time I have to manually run the script.

GSATDG-5
2013-01-18 16:13:07 -05:00
Ami Levy-Moonshine 0fb7b73107 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-18 15:03:42 -05:00
Ami Levy-Moonshine 826c29827b change the default VCFs gatherer of the GATK (not just the UG) 2013-01-18 15:03:12 -05:00
Eric Banks 6a903f2c23 I finally gave up on trying to get the Haplotype/Allele merging to work in the HaplotypeCaller.
I've resigned myself instead to create a mapping from Allele to Haplotype.  It's cheap so not a big deal, but really shouldn't be necessary.
Ryan and I are talking about refactoring for GATK2.5.
2013-01-18 01:21:08 -05:00
Eric Banks ded659232b Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-16 22:49:56 -05:00
Eric Banks a623cca89a Bug fix for HaplotypeCaller, as reported on the forum: when reduced reads didn't completely overlap a deletion call,
we were incorrectly trying to find the reference position of a base on the read that didn't exist.
Added integration test to cover this case.
2013-01-16 22:47:58 -05:00
Mark DePristo 738c24a3b1 Add tests to ensure that all insertion reads appear in the active region traversal 2013-01-16 16:25:36 -05:00
Eric Banks 79bc818022 Bug fix for VariantsToVCF: old dbSNP files can have '-' as reference base and those records always need to be padded. 2013-01-16 16:15:58 -05:00
Mark DePristo 2a42b47e4a Massive expansion of ActiveRegionTraversal unit tests, resulting in several bugfixes to ART
-- UnitTests now include combinational tiling of reads within and spanning shard boundaries
-- ART now properly handles shard transitions, and does so efficiently without requiring hash sets or other collections of reads
-- Updating HC and CountReadsInActiveRegions integration tests
2013-01-16 15:30:00 -05:00
Mark DePristo ddcb33fcf8 Cache result of getLocation() in Shard so we don't performance expensive calculation over and over 2013-01-16 15:30:00 -05:00
Mark DePristo 4d0e7b50ec ArtificialBAMBuilder utility class for creating streams of GATKSAMRecords with a variety of properties
--  Allows us to make a stream of reads or an index BAM file with read having the following properties (coming from n samples, of fixed read length and aligned to the genome with M operator, having N reads per alignment start, skipping N bases between each alignment start, starting at a given alignment start)
-- This stream can be handed back to the caller immediately, or written to an indexed BAM file
-- Update LocusIteratorByStateUnitTest to use this functionality (which was refactored from LIBS unit tests and ArtificialSAMUtils)
2013-01-16 15:29:59 -05:00
Eric Banks e47a389b26 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-16 14:59:11 -05:00
Eric Banks d18dbcbac1 Added tests for changing IUPAC bases to Ns, for failing on bad ref bases, and for the HaplotypeCaller not failing when running over a region with an IUPAC base.
Out of curiosity, why does Picard's IndexedFastaSequenceFile allow one to query for start position 0?  When doing so, that base is a line feed (-1 offset to the first base in the contig) which is an illegal base (and which caused me no end of trouble)...
2013-01-16 14:55:33 -05:00
Khalid Shakir 4ffb43079f Re-committing the following changes from Dec 18:
Refactored interval specific arguments out of GATKArgumentCollection into InvtervalArgumentCollection such that it can be used in other CommandLinePrograms.
Updated SelectHeaders to print out full interval arguments.
Added RemoteFile.createUrl(Date expiration) to enable creation of presigned URLs for download over http: or file:.
2013-01-16 12:43:15 -05:00
Eric Banks 445735a4a5 There was no reason to be sharing the Haplotype infrastructure between the HaplotypeCaller and the HaplotypeScore annotation since they were really looking for different things.
Separated them out, adding efficiencies for the HaplotypeScore version.
2013-01-16 11:10:13 -05:00
Eric Banks 392b5cbcdf The CachingIndexedFastaSequenceFile now automatically converts IUPAC bases to Ns and errors out on other non-standard bases.
This way walkers won't see anything except the standard bases plus Ns in the reference.
Added option to turn off this feature (to maintain backwards compatibility).

As part of this commit I cleaned up the BaseUtils code by adding a Base enum and removing all of the static indexes for
each of the bases.  This uncovered a bug in the way the DepthOfCoverage walker counts deletions (it was counting Ns instead!) that isn't covered by tests.  Fortunately that walker is being deprecated soon...
2013-01-16 10:22:43 -05:00
Eric Banks 4fb3e48099 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-16 00:13:38 -05:00
Eric Banks 0d282a7750 Bam writing from HaplotypeCaller seems to be working on all my test cases. Note that it's a hidden debugging option for now.
Please let me know if you notice any bad behavior with it.
2013-01-16 00:12:02 -05:00
Eric Banks d3baa4b8ca Have Haplotype extend the Allele class.
This way, we don't need to create a new Allele for every read/Haplotype pair to be placed in the PerReadAlleleLikelihoodMap (very inefficient).  Also, now we can easily get the Haplotype associated with the best allele for a given read.
2013-01-15 11:36:20 -05:00
Mark DePristo 3c37ea014b Retire original TraverseActiveRegion, leaving only the new optimized version
-- Required some updates to MD5s, which was unexpected, and will be sorted out later with more detailed unit tests
2013-01-15 10:24:45 -05:00
Eric Banks 94800771e3 1. Initial implementation of bam writing for the HaplotypeCaller with -bam argument; currently only assembled haplotypes are emitted.
2. Framework is set up in the VariantAnnotator for the HaplotypeCaller to be able to call in to annotate dbSNP plus comp RODs.  Until the HC uses meta data though, this won't work.
2013-01-15 10:19:18 -05:00
Mark DePristo b8b2b9b2de ManagingReferenceOrderedView optimization: don't allow a fresh RefMetaDataTracker in the frequent case where there's no reference meta data 2013-01-14 16:30:16 -05:00
Mark DePristo 7eea6b8f92 ReservoirDownsampler optimizations
-- Add an option to not allocate always ArrayLists of targetSampleSize, but rather the previous size + MARGIN.  This helps for LIBS as most of the time we don't need nearly so much space as we allow
-- consumeFinalizedItems returns an empty list if the reservior is empty, which it often true for our BAM files with low coverage
-- Allow empty sample lists for SamplePartitioner as these are used by the RefTraversals and other non-read based traversals

Make the reservoir downsampler use a linked list, rather than a fixed sized array list, in the expectFewOverflows case
2013-01-14 16:30:16 -05:00
Mark DePristo c7f0ca8ac5 Optimization for LIBS: PerSampleReadStateManager now uses a simple LinkedList of AlignmentStateMachine
-- Instead of storing a list of list of alignment starts, which is expensive to manipulate, we instead store a linear list of alignment starts.  Not grouped as previously.  This enables us to simplify iteration and update operations, making them much faster
-- Critically, the downsampler still requires this list of list.  We convert back and forth between these two representations as required, which is very rarely for normal data sets (WGS NA12878 on chr20 is 0.2%, 4x WGS is even less).
2013-01-14 16:30:16 -05:00
Mark DePristo 5a5422e4f8 Refactor PerSampleReadStates into a separate class
-- No longer update the total counts in each per-sample state manager, but instead return delta counts that are updated by the overall ReadStateManager
-- One step on the way to improving the underlying representation of the data in PerSampleReadStateManager
-- Make LocusIteratorByState final
2013-01-14 16:30:16 -05:00
Mark DePristo 5c2799554a Refactor updateReadStates into PerSampleReadStateManager, add tracking of downsampling rate 2013-01-14 16:30:16 -05:00
Mark DePristo a4334a67e0 SamplePartitioner optimizations and bugfixes
-- Use a linked hash map instead of a hash map since we want to iterate through the map fairly often
-- Ensure that we call doneSubmittingReads before getting reads for samples.  This function call fell out before and since it wasn't enforced I only noticed the problem while writing comments
-- Don't make unnecessary calls to contains for map.  Just use get() and check that the result is null
-- Use a LinkedList in PassThroughDownsampler, since this is faster for add() than the existing ArrayList, and we were's using random access to any resulting
2013-01-14 16:30:16 -05:00
Mark DePristo 19288b007d LIBS bugfix: kept reads now only (correctly) includes reads that at least passed the reservoir
-- Added unit tests to ensure this behavior is correct
2013-01-14 16:30:16 -05:00
Mark DePristo 83fcc06e28 LIBS optimizations and performance tools
-- Made LIBSPerformance a full featured CommandLineProgram, and it can be used to assess the LIBS performance by reading a provided BAM
-- ReadStateManager now provides a clean interface to iterate in sample order the per-sample read states, allowing us to avoid many map.get calls
-- Moved updateReadStates to ReadStateManager
-- Removed the unnecessary wrapping of an iterator in ReadStateManager
-- readStatesBySample is now a LinkedHashMap so that iteration occurs in LIBS sample order, allowing us to avoid many unnecessary calls to map.get iterating over samples.  Now those are just map native iterations
-- Restructured collectPendingReads for simplicity, removing redundant and consolidating common range checks.  The new piece is code is much clearer and avoids several unnecessary function calls
2013-01-14 16:30:15 -05:00
Mark DePristo ec05ecef60 getAdaptorBoundary returns an int, not an Integer, as this was taking 30% of the allocation effort for LIBS 2013-01-14 16:30:15 -05:00
Mark DePristo 3a6b4b43b7 Backporting LIBSPerformance improvements to original commit 2013-01-13 09:53:10 -05:00
Mark DePristo f204908a94 Add some todos for future optimization to LIBS 2013-01-11 15:17:18 -05:00
Mark DePristo e88dae2758 LocusIteratorByState operates natively on GATKSAMRecords now
-- Updated code to reflect this new typing
2013-01-11 15:17:18 -05:00
Mark DePristo 94cb50d3d6 Retire LegacyLocusIteratorByState
-- Left in the remaining infrastructure for David to remove, but the legacy downsampler is no longer a functional option in the GATK
2013-01-11 15:17:18 -05:00
Mark DePristo cc0c1b752a Delete old LocusIteratorByState, leaving only new LIBS and legacy 2013-01-11 15:17:18 -05:00
Mark DePristo 9e23c592e6 ReadBackedPileup cleanup
-- Only ReadBackedPileupImpl (concrete class) and ReadBackedPileup (interface) live, moved all functionality of AbstractReadBackedPileup into the impl
-- ReadBackedPileupImpl was literally a shell class after we removed extended events.  A few bits of code cleanup and we reduced a bunch of class complexity in the gatk
-- ReadBackedPileups no longer accept pre-cached values (size, nMapQ reads, etc) but now lazy load these values as needed
-- Created optimized calculation routines to iterator over all of the reads in the pileup in whatever order is most efficient as well.
-- New LIBS no longer calculates size, n mapq, and n deletion reads while making pileups.
-- Added commons-collections for IteratorChain
2013-01-11 15:17:18 -05:00
Mark DePristo e3e3ae29b2 Final documentation for LocusIteratorByState 2013-01-11 15:17:18 -05:00
Mark DePristo 6a91902aa2 Fix final merge conflicts 2013-01-11 15:17:18 -05:00
Mark DePristo b9a33d3c66 Split original and optimized ART into largely independent pieces
-- Allows us to cleanly run old and new art, which now have different traversal behavior (on purpose).  Split unit tests as well.
2013-01-11 15:17:18 -05:00
Mark DePristo 02130dfde7 Cleanup ART
-- Initialize routine captures essential information for running the traversal
2013-01-11 15:17:17 -05:00
Mark DePristo 9b2be795a7 Initial working version of new ActiveRegionTraversal based on the LocusIteratorByState read stream
-- Implemented as a subclass of TraverseActiveRegions
-- Passes all unit tests
-- Will be very slow -- needs logical fixes
2013-01-11 15:17:17 -05:00
Mark DePristo 8b83f4d6c7 Near final cleanup of PileupElement
-- All functions documented and unit tested
-- New constructor interface
-- Cleanup some uses of old / removed functionality
2013-01-11 15:17:17 -05:00
Mark DePristo fb9eb3d4ee PileupElement and LIBS cleanup
-- function to create pileup elements in AlignmentStateMachine and LIBS
-- Cleanup pileup element constructors, directing users to LIBS.createPileupFromRead() that really does the right thing
2013-01-11 15:17:17 -05:00
Mark DePristo 2f2a592c8e Contracts and documentation for AlignmentStateMachine and LocusIteratorByState
-- Add more unit tests for both as well
2013-01-11 15:17:17 -05:00
Mark DePristo cc1d259cac Implement get Length and Bases of OfImmediatelyFollowingIndel in PileupElement
-- Added unit tests for this behavior.  Updated users of this code
2013-01-11 15:17:17 -05:00
Mark DePristo 2c38310868 Create LIBS using new AlignmentStateMachine infrastructure
-- Optimizations to AlignmentStateMachine
-- Properly count deletions.  Added unit test for counting routines
-- AlignmentStateMachine.java is no longer recursive
-- Traversals now use new LIBS, not the old one
2013-01-11 15:17:17 -05:00
Mark DePristo 80d9b7011c Complete rewrite of low-level machinery of LIBS, not hooked up
-- AlignmentStateMachine does what SAMRecordAlignmentState should really do.  It's correct in that it's more accurate than the LIB_position tests themselves.  This is a non-broken, correct implementation.  Needs cleanup, contracts, etc.
-- This version is like 6x slower than the original implementation (according to the google caliper benchmark here).  Obvious optimizations for future commit
2013-01-11 15:17:16 -05:00
Mark DePristo 0ac4352614 LIBS can now (optionally) track the unique reads it uses from the underlying read iterator
-- This capability is essential to provide an ordered set of used reads to downstream users of LIBS, such as ART, who want an efficient way to get the reads used in LIBS
-- Vastly expanded the multi-read, multi-sample LIBS unit tests to make sure this capability is working
-- Added createReadStream to ArtificialSAMUtils that makes it relatively easy to create multi-read, multi-sample read streams for testing
2013-01-11 15:17:16 -05:00
Mark DePristo b3ecfbfce8 Refactor LIBS into component parts, expand unit tests, some code cleanup
-- Split out all of the inner classes of LIBS into separate independent classes
-- Split / add unit tests for many of these components.
-- Radically expand unit tests for SAMRecordAlignmentState (the lowest level piece of code) making sure at least some of it works
-- No need to change unit tests or integration tests.  No change in functionality.
-- Added (currently disabled) code to track all submitted reads to LIBS, but this isn't accessible or tested
2013-01-11 15:17:16 -05:00
Mark DePristo b2990497e2 Refactor LIBS into utils.locusiterator before refactoring 2013-01-11 15:17:16 -05:00
Mauricio Carneiro 9ed922d562 Updating licenses to Eric's last commit
- for now we're still running the script by hand, soon automated solution will be in place.

GSATDG-5
2013-01-11 14:33:00 -05:00
Eric Banks e7906713d9 Moving some random walkers back to public as requested by Mark. Mauricio will the licenses get updated automatically? 2013-01-11 02:03:43 -05:00
Ami Levy-Moonshine 352cb831d0 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-10 21:27:06 -05:00
Ami Levy-Moonshine fac0bce916 add RunCoveredByNSamplesSites; changes in CoveredByNSamplesSites so it can work in parallel; also, move it to diagnostics 2013-01-10 21:26:49 -05:00
Mauricio Carneiro 2a4ccfe6fd Updated all JAVA file licenses accordingly
GSATDG-5
2013-01-10 17:06:41 -05:00
Ryan Poplin 487fb2afb4 Bug fix for the case of overlapping assembled and partially-assembled events created by the HC. Unfortunately the symbolic allele can't be combined with the indel allele because the reference basis will change. 2013-01-09 15:30:46 -05:00
Eric Banks 4fa439d89e Move some classes back to public because they are used in the engine. Move some test classes to protected. We should have no more public->protected dependancies now 2013-01-09 11:06:10 -05:00
Eric Banks 676e79542a Bring CombineVariants back to public since it's used for SG. I needed to break ChromosomeCountConstants out of ChromosomeCounts to make this work. 2013-01-09 10:39:48 -05:00
Ryan Poplin c87ad8c0ef Bug fixes related to HC's GGA mode. Tracking just the artificial allele isn't sufficient when there are multiple GGA records that change the reference basis. Also, duplicated records screw up the tracking of merged alleles. 2013-01-09 10:00:46 -05:00
Ami Levy-Moonshine 15ca5015cd Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-08 21:53:36 -05:00
Ami Levy-Moonshine d6071728e8 add new walker to find sites with good coverage 2013-01-08 17:10:38 -05:00
Eric Banks 264cc9e78d Resolve protected->public dependencies for BQSR by wrapping the BQSR-specific arguments in a new class.
Instead of the GATK Engine creating a new BaseRecalibrator (not clean), it just keeps track of the arguments (clean).

There are still some dependency issues, but it looks like they are related to Ami's code.  Need to look into it further.
2013-01-08 16:23:29 -05:00
Eric Banks f0bd1b5ae5 Okay, all public->protected dependencies are gone except for the BQSR arguments. I'll need to think through this but should be able to make that work too. 2013-01-08 15:46:32 -05:00
Eric Banks 245fcc8bb5 Merged bug fix from Stable into Unstable 2013-01-08 12:59:15 -05:00
Eric Banks d6146d369a Remove all of the references to ProgramElementDoc 2013-01-08 12:58:31 -05:00
Eric Banks 47d030a52d Oops, move the covariates over too 2013-01-07 15:47:25 -05:00
Eric Banks 35699a8376 Move bqsr utils to protected 2013-01-07 15:41:21 -05:00
Eric Banks 5371613ad1 Tests seem to pass (can't be positive though because I ran before Tad's recent push), so I'm going to push now (this push touches so many files that I don't want to keep it around much longer).
Merge branch 'master' of github.com:broadinstitute/gsa-unstable
2013-01-07 15:27:43 -05:00
Ami Levy-Moonshine d4b4f95e12 move CatVariants to public 2013-01-07 15:07:16 -05:00
Eric Banks a0219acfaa Collapse the PerReadAlleleLikelihoodMap classes into 1 now that Lite is gone 2013-01-07 14:55:21 -05:00
Eric Banks 35d9bd377c Moved (nearly) all Walkers from public to protected and removed GATKLite utils 2013-01-07 14:42:40 -05:00
Eric Banks b4e7b3d691 Fixed precision problem in the Bayesian calculation of Qemp: we need to cap below max integer because the MathUtils code add +1.
Added unit tests for handling large number of observations.
2013-01-07 13:07:36 -05:00
Tad Jordan 04e3978b04 Fixed VariantEval tests
-Added sorting by rows to VariantEval
2013-01-07 12:45:32 -05:00
Ryan Poplin 4f95f850b3 Bug fix in the HC's allele mapping for multi-allelic events. Using the allele alone as a key isn't sufficient because alleles change when the reference allele changes during VariantContextUtils.simpleMerge for multi-allelic events. 2013-01-07 11:05:44 -05:00
Ami Levy-Moonshine d3c2c97fb2 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-06 23:35:47 -05:00
Ami Levy-Moonshine c554d9db25 add TODO 2013-01-06 23:04:38 -05:00
Ami Levy-Moonshine 81eef3aa37 merge development branchs of log-less HMM and FastGatherer to master 2013-01-06 23:01:58 -05:00
Eric Banks 0249e1f497 Resolving merge conflicts from VCF move 2013-01-06 14:32:31 -05:00
Eric Banks 8822b8e7c8 Moving HelpConstants out of HelpUtils so that we stop getting these ProgramElementDoc errors when com.sun.javadoc cannot load on a user's system. 2013-01-06 14:30:45 -05:00
Eric Banks ea21dc9cfb I just committed this - why didn't it work before? Trying again... 2013-01-06 12:44:13 -05:00
Eric Banks 52067f0549 Handle merge conflicts 2013-01-06 12:29:12 -05:00
Eric Banks bf25e151ff Handle long->int precision in Bayesian estimate 2013-01-06 12:26:32 -05:00
Eric Banks b73d72fe94 update docs for LEftAlignVariants 2013-01-06 01:56:57 -05:00
Mark DePristo 2ab55e4ee7 Fixing bug in TraverseDuplicates.printProgress call: only passes in single location of genome loc 2013-01-05 12:50:27 -05:00
Mark DePristo 69bf70c42e Cleanup and more unit tests for RecalibrationTables in BQSR
-- Added unit tests for combining RecalibrationTables.  As a side effect now has serious tests for incrementDatumOrPutIfNecessary
-- Removed unnecessary enum.index system from RecalibrationTables.
-- Moved what were really static utility methods out of RecalibrationEngine and into RecalUtils.
2013-01-05 12:50:27 -05:00
Chris Hartl 9df30880cb Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-04 17:15:22 -05:00
Joel Thibault 01738e70c3 Archive the experimental Active Region Traversals 2013-01-04 17:05:31 -05:00
Chris Hartl 7b7efa0fff Add in the AAL as an experimental covariate, in case it's wanted. 2013-01-04 16:47:26 -05:00
Chris Hartl 41bc416b65 Remove AAL and update MD5s. 2013-01-04 16:46:14 -05:00
Eric Banks bce6fce58d Resolving merge conflicts after Mark's latest push 2013-01-04 14:46:39 -05:00
Eric Banks dd7f5e2be7 Hooking up the Bayesian estimate code for calculating Qemp in BQSR; various fixes after adding unit tests. 2013-01-04 14:43:11 -05:00
Ami Levy-Moonshine 80b531f695 emit all sites where more than 90% of the samples have good coverage 2013-01-04 14:27:50 -05:00
Tad Jordan fe06912a87 Removed sorting by row from walkers 2013-01-04 11:52:33 -05:00
Mark DePristo 810e2da1d4 Cleanup and unit tests for EventType and ReadRecalibrationInfo in BQSR
-- Added unit tests for EventType and ReadRecalibrationInfo
-- Simplified interface of EventType.  Previously this enum carried an index with it, but this is redundant with the enum.ordinal function.  Now just using that function instead.
2013-01-04 11:39:25 -05:00
Mark DePristo a5901cdd20 Bugfix for printProgress in TraverseReadsNano
-- Must provide a single bp position (1:10) not the range of the read (1:1-50).  ProgressMeter now checks at runtime for this problem as well.
2013-01-04 11:39:24 -05:00
Mark DePristo bbdf9ee91b BQSR cleanup: merge Advanced and Standard recalibration engine into just the RecalibrationEngine
-- As we are no longer maintaining a public/protected system we need only have one RecalibrationEngine.
-- Misc. code cleanup and docs along the way
2013-01-04 11:39:24 -05:00
Mark DePristo 7df47418d8 BQSR optimization: make RecalibrationTables thread-local, and merge results in onTraversalDone
-- With the newer, faster BQSR, scaling was limited by the NestedIntegerArray.  The solution to this is to make the entire table thread-local, so that each nct thread has its own data and doesn't have any collisions.
-- Removed the previous partial solution of having a thread-local quality score table
-- Added a new argument -lowMemory
2013-01-04 11:39:24 -05:00
Mark DePristo 1ba8d47a81 Unit tests for ProgressMeterDaemon 2013-01-04 11:39:24 -05:00
Joel Thibault 319d651e4a Initial updates for ActiveRegionShard 2013-01-03 17:00:13 -05:00
Joel Thibault e7553545ef Initial updates for ReadShard 2013-01-03 17:00:13 -05:00
Joel Thibault 14a3ac0e3c Enable the use of alternate shards 2013-01-03 17:00:13 -05:00
Joel Thibault 4cc372f53b LocusShardDataProvider doesn't need its own GenomeLocParser 2013-01-03 17:00:13 -05:00
Joel Thibault ffbd4d85f2 No need to pass fields as parameters 2013-01-03 17:00:12 -05:00
Tad Jordan c1ba12d71a Added unit test for outputting sorted GATKReport Tables
- Made few small modifications to code
- Replaced the two arguments in GATKReportTable constructor with an enum used to specify way of sorting the table
2013-01-03 16:53:59 -05:00
Ami Levy-Moonshine 10a705b27f Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-03 13:42:31 -05:00
Ami Levy-Moonshine 2018285a39 better error message 2013-01-03 13:41:03 -05:00
Eric Banks c7039a9b71 Pushing in implementation of the Bayesian estimate of Qemp for the BQSR.
This isn't hooked up yet with BQSR; it's just a static method used in my testing walker.  I'll hook this into BQSR after more testing and the addition of unit tests.
Most of the changes in this commit are actually documentation-related.
2013-01-02 15:21:44 -05:00
Joel Thibault c515175313 Ensure that active region extensions stay on contig 2013-01-02 14:46:24 -05:00
Chris Hartl e1d09ab0db QD is now divided by the average length of the alternate allele (weighted by the allele count). The average length is stored in a related annotation, "AAL", which can be used to re-compute the "old" QD by simple multiplication. Integration tests *should* all pass. 2013-01-02 14:41:29 -05:00
Mark DePristo 12f4c6307e AutoFormattingTime cleanup and complete unittests
-- Underlying system now uses long nano times to be more consistent with standard java practice
-- Updated a few places in the code that were converting from nanoseconds to double seconds to use the new nanoseconds interface directly
-- Bringing us to 100% test coverage with clover with AutoFormattingTimeUnitTest
2013-01-02 11:29:25 -05:00
Mark DePristo 5558a6b8f7 Deleting / archiving no longer classes
-- AminoAcidTable and AminoAcid goes to the archive
-- Removing two unused SAMRecord classes
2012-12-29 14:34:17 -05:00
Mark DePristo 38cc496de8 Move SomaticIndelDetector and associated tools and libraries into private/andrey package
-- Intermediate commit on the way to archiving SomaticIndelDetector and other tools.
-- SomaticIndelDetector, PairMaker and RemapAlignments tools have been refactored into the private andrey package.  All utility classes refactored into here as well.  At this point, the SomaticIndelDetector builds in this version of the GATK.
-- Subsequent commit will put this code into the archive so it no longer builds in the GATK
2012-12-29 14:34:08 -05:00
Ami Levy-Moonshine f450cbc1a3 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-27 21:23:59 -05:00
Eric Banks 75d5b88a3d Enabling the Recal Report unit test (which looks like it was never ever enabled) 2012-12-26 15:35:50 -05:00
Eric Banks efceb0d48c Check for well-encoded reads while fixing mis-encoded ones 2012-12-26 14:30:51 -05:00
Mark DePristo af9746af52 Fix merge failure 2012-12-24 13:43:04 -05:00
Mark DePristo 04cc75aaec Minor cleanup and expansion of the RecalDatum unit tests 2012-12-24 13:35:58 -05:00
Mark DePristo 7bf1f67273 BQSR optimization: read group x quality score calibration table is thread-local
-- AdvancedRecalibrationEngine now uses a thread-local table for the quality score table, and in finalizeData merges these thread-local tables into the final table.  Radically reduces the contention for RecalDatum in this very highly used table
-- Refactored the utility function to combine two tables into RecalUtils, and created UnitTests for this function, as well as all of RecalibrationTables.  Updated combine in RecalibrationReport to use this table combiner function
-- Made several core functions in RecalDatum into final methods for performance
-- Added RecalibrationTestUtils, a home for recalibration testing utilities
2012-12-24 13:35:58 -05:00
Mark DePristo 295455eee2 NanoScheduler optimizations and simplification
-- The previous model was to enqueue individual map jobs (with a resolution of 1 map job per map call), to track the number of map calls submitted via a counter and a semaphore, and to use this information in each map job and reduce to control the number of map jobs, when reduce was complete, etc.  All hideously complex.
-- This new model is vastly simply.  The reducer basically knows nothing about the control mechanisms in the NanoScheduler.  It just supports multi-threaded reduce.  The NanoScheduler enqueues exactly nThread jobs to be run, which continually loop reading, mapping, and reducing until they run out of material to read, when they shut down.  The master thread of the NS just holds a CountDownLatch, initialized to nThreads, and when each thread exits it reduces the latch by 1.  The master thread gets the final reduce result when its free by the latch reaching 0.  It's all super super simple.
-- Because this model uses vastly fewer synchronization primitives within the NS itself, it's naturally much faster at getting things done, without any of the overhead obvious in profiles of BQSR -nct 2.
2012-12-24 13:35:57 -05:00
Mark DePristo aa3ee29929 Handle case where the ReadGroup is null in GATKSAMRecord 2012-12-24 13:35:57 -05:00
Mark DePristo bf81db40f7 NanoScheduler reducer optimizations
-- reduceAsMuchAsPossible no longer blocks threads via synchronization, but instead uses an explicit lock to manage access.  If the lock is already held (because some thread is doing reduce) then the thread attempting to reduce immediately exits the call and continues doing productive work.  They removes one major source of blocking contention in the NanoScheduler
2012-12-24 13:35:57 -05:00
Mark DePristo 940816f16a GATKSamRecord now checks that the read group is a GATKReadGroupRecord, and if not makes one 2012-12-24 13:35:57 -05:00
Mark DePristo 14944b5d73 Incorporating clover into build.xml
-- See http://gatkforums.broadinstitute.org/discussion/2002/clover-coverage-analysis-with-ant for use docs
-- Fix for artificial reads not having proper read groups, causing NPE in some tests
-- Added clover itself to private/resources
2012-12-24 13:35:57 -05:00
Mark DePristo 7796ba7601 Minor optimizations for NanoScheduler
-- Reducer.maybeReleaseLatch is no longer synchronized
-- NanoScheduler only prints progress every 100 or so map calls
2012-12-24 13:35:56 -05:00
Mark DePristo 0f04485c24 NanoScheduler optimization: don't use a PriorityBlockingQueue for the MapResultsQueue
-- Created a separate, limited interface MapResultsQueue object that previously was set to the PriorityBlockingQueue.
-- The MapResultsQueue is now backed by a synchronized ExpandingArrayList, since job ids are integers incrementing from 0 to N.  This means we avoid the n log n sort in the priority queue which was generating a lot of cost in the reduce step
-- Had to update ReducerUnitTest because the test itself was brittle, and broken when I changed the underlying code.
-- A few bits of minor code cleanup through the system (removing unused constructors, local variables, etc)
-- ExpandingArrayList called ensureCapacity so that we increase the size of the arraylist once to accommodate the upcoming size needs
2012-12-24 13:35:56 -05:00
Mark DePristo b92f563d06 NanoScheduler optimization for TraverseReadsNano
-- Pre-read MapData into a list, which is actually faster than dealing with future lock contention issues with lots of map threads
-- Increase the ReadShard default size to 100K reads by default
2012-12-24 13:35:56 -05:00
Mark DePristo f849910c4e BQSR optimization: only compute BAQ when there's at least one error to delocalize
-- Saves something like 2/3 of the compute cost of BQSR
2012-12-24 13:35:56 -05:00
Mark DePristo 0f0188ddb1 Optimization of BQSR
-- Created a ReadRecalibrationInfo class that holds all of the information (read, base quality vectors, error vectors) for a read for the call to updateDataForRead in RecalibrationEngine.  This object has a restrictive interface to just get information about specific qual and error values at offset and for event type.  This restrict allows us to avoid creating an vector of byte 45 for each read to represent BI and BD values not in the reads.  Shaves 5% of the runtime off the entire code.
-- Cleaned up code and added lots more docs
-- With this commit we no longer have much in the way of low-hanging fruit left in the optimization of BQSR.  95% of the runtime is spent in BAQing the read, and updating the RecalData in the NestedIntegerArrays.
2012-12-24 13:35:09 -05:00
Mark DePristo f6d5499582 The GATK engine now ensures that incoming GATKSAMRecords have GATKSAMReadGroupRecord objects in their header
-- Update SAMDataSource so that the merged header contains GATKSAMReadGroupRecord
-- Now getting the NGSPlatform for a GATKSAMRecord is actually efficient, instead of computing the NGS platform over and over from the PL string
-- Updated a few places in the code where the input argument is actually a GATKSAMRecord, not a SAMRecord for type safety
2012-12-24 13:35:09 -05:00
Ami Levy-Moonshine 8be01af145 add the new gather tool to GATKExtensionsGenerator 2012-12-21 15:09:00 -05:00
Ami Levy-Moonshine 3ca3fd4b3e keep working on loglessHMM in UG 2012-12-21 11:06:12 -05:00
Ami Levy-Moonshine 6590039bc3 add fast gather to UG; change UG to work with log-lessHMM (work in prograss) 2012-12-20 14:58:57 -05:00
Tad Jordan b491c177ff Added functionality of outputting sorted GATKReport Tables
- Added an optional argument to BaseRecalibrator to produce sorted GATKReport Tables
- Modified BSQR Integration Tests to include the optional argument. Tests now produce sorted tables
2012-12-20 14:02:21 -05:00
Eric Banks 6c3f5eefe9 Merged bug fix from Stable into Unstable 2012-12-19 22:29:21 -05:00
xingwei2012 22d13ccdab Bug fix for Queue LSF v8.3
the function ls_getLicenseUsage() is not supported by LSF v8.x, comment the line:

public static native lsfLicUsage.ByReference ls_getLicenseUsage()

Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-12-19 22:28:53 -05:00
Ryan Poplin 54e5c84018 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-19 11:31:40 -05:00
David Roazen 07b369ca7e Move VCF/BCF2/VariantContext to new standalone org.broadinstitute.variant package
This is an intermediate commit so that there is a record of these changes in our
commit history. Next step is to isolate the test classes as well, and then move
the entire package to the Picard repository and replace it with a jar in our repo.

-Removed all dependencies on org.broadinstitute.sting (still need to do the test classes,
though)

-Had to split some of the utility classes into "GATK-specific" vs generic methods
(eg., GATKVCFUtils vs. VCFUtils)

-Placement of some methods and choice of exception classes to replace the StingExceptions
and UserExceptions may need to be tweaked until everyone is happy, but this can be
done after the move.
2012-12-19 10:25:22 -05:00
Ryan Poplin cda0c48570 auto-merge 2012-12-19 10:12:49 -05:00
Mark DePristo 1ca13f9581 Fundamentally better model for the NanoScheduler
-- Now each map job reads a value, performs map, and does as much reducing as possible.  This ensures that we scale performance with the nct value, so -nct 2 should result in 2x performance, -nct 3 3x, etc.  All of this is accomplished using exactly NCT% of the CPU of the machine.
-- Has the additional value of actually simplifying the code
-- Resolves a long-standing annoyance with the nano scheduler.
2012-12-19 09:31:31 -05:00
David Roazen d0cd29cb36 Merged bug fix from Stable into Unstable 2012-12-19 02:20:28 -05:00
David Roazen 0d93330ab9 Fix bug in the PerSampleDownsamplingReadsIterator that could lead to excessive memory usage at traversal startup
This is a MUST-HAVE update for GATK 2.3 users who want to try out the new
ability to use -dcov with ReadWalkers.
2012-12-19 02:05:36 -05:00
Yossi Farjoun 6ed9eb3da9 GATKBAMIndex now passes unit test! Problem was that SeekableBufferedStream seems to have a bug: it will read beyond the end of a file if asked to. 2012-12-18 17:32:26 -05:00
Ryan Poplin 902ca7ea70 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-18 15:45:33 -05:00
Ryan Poplin 3950f7b3e3 Increasing the INFORMATIVE_LIKELIHOOD_THRESHOLD value to 0.2 2012-12-18 15:45:12 -05:00
Ryan Poplin b5d590ba92 Based on NA12878 knowledge base experiments updating HC to allow for a much smaller minimum kmer length in the assembly graph. 2012-12-18 15:43:56 -05:00
eitanbanks 002ce9c1d5 Merge pull request #8 from yfarjoun/master
Huge speedup in initial traversal of BAM index files (x20 speed!)
2012-12-18 10:16:53 -08:00
Mark DePristo 16eb1c5436 Optimization to TraverseReadsNano
-- Don't just read all inputs into a list, and then provide an iterator to that list, actually make a real iterator so NanoScheduler input thread can contribute meaningfully to the work load
-- Use NanoScheduler progress function, instead of home-grown updater
2012-12-18 10:14:47 -05:00
Mark DePristo b33f804cdc Inline increment function in RecalDatum to avoid minor duplication of work and multiple synchronized method calls 2012-12-17 16:47:27 -05:00
Mark DePristo 66d32f646b Minor cleanup of BAQ calculation (final variables, etc) 2012-12-17 16:47:27 -05:00
Mark DePristo 67fe81391c ProgressMeter optimization: don't do genome loc formatting, but instead create an object that only formats when printing is actually needed 2012-12-17 16:47:27 -05:00
Mark DePristo 1de2f527b9 Optimization of recalibrateRead
-- Refactor calculation so that upfront constant values are pre-computed, and cached, and their values just looked up during application
-- Trivial comment on how we might use BAQ better in BaseRecalibrator
2012-12-17 16:47:27 -05:00
Mark DePristo bd6cda7542 Trivial optimization of TraverseReadsNano -- don't format the shard toString if logger isn't debug enabled 2012-12-17 16:47:27 -05:00
Mark DePristo a481d006f0 Optimizations for applying BQSR table with PrintReads
-- Cleaned up code in updateDataForRead so that constant values where not computed in inner loops
-- BaseRecalibrator doesn't create it's own fasta index reader, it just piggy backs on the GATK one
-- ReadCovariates <init> now uses a thread local cache for it's int[][][] keys member variable.  This stops us from recreating an expensive array over and over.  In order to make this really work had to update recordValues in ContextCovariate so it writes 0s over base values its skipping because of low quality base clipping.  Previously the values in the ReadCovariates keys were 0 because they were never modified by ContextCovariates. Now these values are actually zero'd out explicitly by the covariates.
2012-12-17 16:47:27 -05:00
Mark DePristo 5ec25797b3 Optimizations for BaseRecalibrator
-- No longer computes at each update the overall read group table.  Now computes this derived table only at the end of the computation, using the ByQual table as input.  Reduces BQSR runtime by 1/3 in my test
2012-12-17 16:47:27 -05:00
Eric Banks e6f468b647 Refactored the quasi-useful IndelType annotation into the more useful VariantType.
The indels are still annotated as before, but now all other variant types are annotated too.
I'm doing this because of requests on the forum but am not making it standard.  If we find it to be useful we can turn it on by default later.
2012-12-17 11:54:47 -05:00
Eric Banks 762f184262 Bug fix for strict validation: rsID checking wasn't working if there were multiple IDs 2012-12-17 10:32:41 -05:00
Yossi Farjoun ea704d688f chose smaller buffer size for the bufferedStream 2012-12-15 13:01:38 -05:00
Yossi Farjoun 6da2338ea7 removed comments and uneeded imports 2012-12-15 12:31:37 -05:00
Yossi Farjoun 19dd2d628a some changes.
some changes.
2012-12-14 17:21:32 -05:00
Mauricio Carneiro 74344a3871 Bringing in the changes from the CMI repo 2012-12-13 21:59:37 -05:00
Eric Banks 696bf95fba Fix for PBT bug reported on the forum: the AD is actually output correctly now (rather than with 'null' or some gibberish memory pointer). 2012-12-13 23:28:30 +00:00
Mark DePristo aeab932c63 Actual working version of unflushing VCFWriter
-- Uses high-performance local writer backed by byte array that writes the entire VCF line in some write operation to the underlying output stream.
-- Fixes problems with indexing of unflushed writes while still allowing efficient block zipping
-- Same (or better) IO performance as previous implementation
-- IndexingVariantContextWriter now properly closes the underlying output stream when it's closed
-- Updated compressed VCF output file
2012-12-13 16:15:08 -05:00
Yossi Farjoun 5e66109268 Replaced a useless getInt with a skipInt to remove 1/4 of the initial seek time in the BAM Index. 2012-12-12 17:08:11 -05:00
Eric Banks 62eaffdf0a Fix docs for ReadBackedPhasing 2012-12-12 20:28:04 +00:00
Eric Banks bba63a3b0e Fix for GSA-615: UnifiedGenotyperEngine.getGLModelsToUse takes 5% of the runtime of UG, should be optimized away. 2012-12-12 20:25:45 +00:00
Mauricio Carneiro a52e3c7e15 Revert "Bug fix for RR: don't let the softclip start position be less than 1"
this introduced a bug in reduce reads by de-activating it's hard clipping of the out of bounds soft-clips (specially in the MT).
DEV-322 #resolve #time 4m

This reverts commit 42acfd9d0bccfc0411944c342a5b889f5feae736.
2012-12-12 13:09:39 -05:00
Mark DePristo 5632c13bf2 Resolves GSA-681 / Compressed VCF.gz output is too big because of unnecessary call to flush().
-- Now compressed output VCFs are properly blocked compressed (i.e., they are actually smaller than the uncompressed VCF)
2012-12-12 10:27:07 -05:00
Mark DePristo dd52a70d45 Fix AFCalcResult unit test
-- I was simply passing in the wrong values into the function.  Fixed the calls, and expanded the docs on what needs to be passed in.
2012-12-11 10:40:12 -05:00
Ami Levy-Moonshine 6bf31065e3 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-11 10:34:50 -05:00
Ami Levy-Moonshine 2e3284f306 Continue to fix the case where PRIORITIZE is used but no priority list is given. While fixing that case I also removed unnecessary sorting, when the prioeity list is not provied. When the priority list is not provided, it will continue to be null. Thus, the number of original Variant Contexts should be given as a new parameter to simpleMerge (since priority might be null). This new parameter is used for checking if there are filtered VC, when annotationOrigin is true. 2012-12-10 22:23:58 -05:00
Mauricio Carneiro 8a115edbaf ReduceReads is now scattered by contig
It's no longer safe to scatter/gather by interval because now we don't hard-clip to the intervals anymore.
2012-12-10 15:25:27 -05:00
Ami Levy-Moonshine 573ace4403 restore the right version of VariantContextUtils.java in my unstable dir 2012-12-10 10:28:56 -05:00
David Roazen 46edab6d6a Use the new downsampling implementation by default
-Switch back to the old implementation, if needed, with --use_legacy_downsampler

-LocusIteratorByStateExperimental becomes the new LocusIteratorByState, and
the original LocusIteratorByState becomes LegacyLocusIteratorByState

-Similarly, the ExperimentalReadShardBalancer becomes the new ReadShardBalancer,
with the old one renamed to LegacyReadShardBalancer

-Performance improvements: locus traversals used to be 20% slower in the new
downsampling implementation, now they are roughly the same speed.

-Tests show a very high level of concordance with UG calls from the previous
implementation, with some new calls and edge cases that still require more examination.

-With the new implementation, can now use -dcov with ReadWalkers to set a limit
on the max # of reads per alignment start position per sample. Appropriate value
for ReadWalker dcov may be in the single digits for some tools, but this too
requires more investigation.
2012-12-10 09:44:50 -05:00
Ami Levy-Moonshine 5460c96137 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-09 23:43:57 -05:00
Ami Levy-Moonshine 3a420d163e (1) changes in catVariants (work still under development) (2) changes to CV to throw an error when GenotypeMergeType is PRIORITIZE but no priority (rod_priority_list) is not given. Reported by TechnicalVault on the forum on Nov 14 2012 2012-12-09 23:40:03 -05:00
Eric Banks 574d5b467f Bug fix for indel HMM: protect against situation where long reads (e.g. Sanger) in a pileup can lead to a read starting after the haplotype end for a given haplotype. 2012-12-09 02:09:34 -05:00
Ami Levy-Moonshine 5d78a61f7a Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-05 15:07:12 -05:00
Mark DePristo 465694078e Major performance improvement to the GATK engine
-- The NanoSchedule timing code (in NSRuntimeProfile) was crazy expensive, but never showed up in the profilers.  Removed all of the timing code from the NanoScheduler, the NSRuntimeProfile itself, and updated the unit tests.
-- For tools that largely pass through data quickly, this change reduces runtimes by as much as 10x.  For the RealignerTargetCreator example, the runtime before this commit was 3 hours, and after is 30 minutes (6x improvement).
-- Took this opportunity to improve the GATK ProgressMeter.  NotifyOfProgress now just keeps track of the maximum position seen, and a separate daemon thread ProgressMeterDaemon periodically wakes up and prints the current progress.  This removes all inner loop calls to the GATK timers.
-- The history of the bug started here: http://gatkforums.broadinstitute.org/discussion/comment/2402#Comment_2402
2012-12-05 14:49:22 -05:00
Mark DePristo 2b601571e7 Better error handling in NanoScheduler
-- The previous nanoscheduler would deadlock in the case where an Error, not an Exception, was thrown.  Errors, like out of memory, would cause the whole system to die.  This bugfix resolves that issue
2012-12-05 14:49:22 -05:00
Eric Banks 0c925856cb Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-05 02:00:39 -05:00
Eric Banks ef87b18e09 In retrospect, it wasn't a good idea to have FisherStrand handle reduced reads since they are always on the forward strand. For now, FS ignores reduced reads but I've added a note (and JIRA) to make this work once the RR het compression is enabled (since we will have directionality in reads then). 2012-12-05 02:00:35 -05:00
Mauricio Carneiro 30f013aeb0 Added a copy() method for ReadBackedPileups
necessary to create new alignment contexts with hard-copies of the pileup.
2012-12-05 01:32:18 -05:00
Mauricio Carneiro 6feda540a4 Better error message for SimpleGATKReports 2012-12-05 01:32:18 -05:00
Randal Moore 8d2d0253a2 introduce a level of indirection for the forum URLs - this new function will allow me a place to morph the URL into something that is supported by Confluence
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-12-03 22:33:02 -05:00
Eric Banks 67932b357d Bug fix for RR: don't let the softclip start position be less than 1 2012-12-03 15:59:14 -05:00
Ryan Poplin a47da9bb2f Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-03 14:30:14 -05:00
Eric Banks 5fed9df295 Quick fix: base qual array in the GATKSAMRecord stores the actual phred values (-33) and not the original bytes (duh). 2012-12-03 12:18:20 -05:00
Eric Banks b6839b3049 Added checking in the GATK for mis-encoded quality scores.
The check is performed by a Read Transformer that samples (currently set to once
every 1000 reads so that we don't hurt overall GATK performance) from the input
reads and checks to make sure that none of the base quals is too high (> Q60). If
we encounter such a base then we fail with a User Error.

* Can be over-ridden with --allow_potentially_misencoded_quality_scores.
* Also, the user can choose to fix his quals on the fly (presumably using PrintReads
  to write out a fixed bam) with the --fix_misencoded_quality_scores argument.

Added unit tests.
2012-12-03 11:18:41 -05:00
Ryan Poplin 18b002c99c Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-03 10:08:56 -05:00
Ryan Poplin 1bdf17ef53 Reworking of how the likelihood calculation is organized in the HaplotypeCaller to facilitate the inclusion of per allele downsampling. We now use the downsampling for both the GL calculations and the annotation calculations. 2012-12-02 11:58:32 -05:00
Ami Levy-Moonshine d0b8cc7773 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-01 00:08:25 -05:00
Ami Levy-Moonshine 969c995298 work under development - catVariants. Changes to AssessRRQuals based on Eric todo comments. bug fix in CombineVariants 2012-12-01 00:08:19 -05:00
Mark DePristo 8020ba14db Minor cleanup of SAMDataSource as part of my system review
-- Changed a few function from public to protected, as they are only used by the package contents, to simplify the SAMDataSource interface
2012-11-30 15:04:41 -05:00
Mauricio Carneiro fc7fab5f3b Fixed ReadBackedPileup downsampling
Downsampling in the PerSampleReadBackedPileup was broken, it didn't downsample anything, always returning a copy the original pileup.
2012-11-30 00:42:05 -05:00
Joel Thibault 97d29f203e Add walltime changes to LSF
- Check whether the specified attribute is available
- Add pipeline test (disabled due to missing attribute)
2012-11-29 15:23:37 -05:00
Joel Thibault 198923b597 Add ActiveRegionReadState handling 2012-11-28 13:59:57 -05:00
Ryan Poplin f0395b457a Adding the work-in-progress, experimental RepeatLengthCovariate to the BQSR so Chris can continue the development. 2012-11-28 13:56:32 -05:00
Eric Banks 3463774f2a Merged bug fix from Stable into Unstable 2012-11-28 13:26:52 -05:00
Eric Banks 6030605242 Added quick check for creation of bad BAQ values associated with badly encoded base qualities; hopefully this can help us debug the non-reproducible issue seen by many users. 2012-11-28 13:26:31 -05:00
Mark DePristo c676853731 Merged bug fix from Stable into Unstable. Updating md5s
Conflicts:
	protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java
2012-11-28 12:54:36 -05:00
Mark DePristo a1d6461121 Critical bugfix to AFCalcResult affecting UG/HC quality score emission thresholds
As reported by Menachem Fromer: a critical bug in AFCalcResult:

Specifically, the implementation:
    public boolean isPolymorphic(final Allele allele, final double log10minPNonRef) {
        return getLog10PosteriorOfAFGt0ForAllele(allele) >= log10minPNonRef;
    }

seems incorrect and should probably be:

getLog10PosteriorOfAFEq0ForAllele(allele) <= log10minPNonRef

The issue here is that the 30 represents a Phred-scaled probability of *error* and it's currently being compared to a log probability of *non-error*.

Instead, we need to require that our probability of error be less than the error threshold.
This bug has only a minor impact on the calls -- hardly any sites change -- which is good.  But the inverted logic effects multi-allelic sites significantly.  Basically you only hit this logic with multiple alleles, and in that case it'\s including extra alt alleles incorrectly, and throwing out good ones.

Change was to create a new function that properly handles thresholds that are PhredScaled quality scores:

    /**
     * Same as #isPolymorphic but takes a phred-scaled quality score as input
     */
    public boolean isPolymorphicPhredScaledQual(final Allele allele, final double minPNonRefPhredScaledQual) {
        if ( minPNonRefPhredScaledQual < 0 ) throw new IllegalArgumentException("phredScaledQual " + minPNonRefPhredScaledQual + " < 0 ");
        final double log10Threshold = Math.log10(QualityUtils.qualToProb(minPNonRefPhredScaledQual));
        return isPolymorphic(allele, log10Threshold);
    }
2012-11-28 12:08:02 -05:00
Menachem Fromer 79bc878e6a Allow debugging to be set from the command line 2012-11-27 22:37:41 -05:00