Commit Graph

233 Commits (3787ee6de7a7ee2e25d65a28d82200a5e92a4b26)

Author SHA1 Message Date
Ami Levy-Moonshine 3787ee6de7 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2013-01-07 17:07:29 -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
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 81eef3aa37 merge development branchs of log-less HMM and FastGatherer to master 2013-01-06 23:01:58 -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
Eric Banks 275575462f Protect against non-standard ref bases. Ryan, please review. 2012-12-26 15:46:21 -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 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
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
Ryan Poplin 54e5c84018 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-19 11:31:40 -05:00
Eric Banks 70479cb71d RR bug fix: we were failing when a read started with an insertion just at the edge of the consensus region.
The weird part is that the comments claimed it was doing what it was supposed to, but it didn't actually do it.
Now we maintain the last header element of the consensus (but without bases and quals) if it adjoins an element with an insertion.

Added the user's test file as an integration test.
2012-12-19 10:59:07 -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 902ca7ea70 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-18 15:45:33 -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
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
Ryan Poplin 98f18b5f9e Changing the HC over to using the non-contamination-downsampled read maps for the purposes of annotations. This behavior now matches the UG. There is a new command line option to go back to the older behavior to explore the differences. 2012-12-17 11:27:44 -05:00
Mauricio Carneiro 5f1afb4136 Fixing an off-by-one clipping error in ReduceReads for reads off the contig
Reads that are soft-clipped off the contig (before the beginning of the contig) were being soft-clipped to position 0 instead of 1 because of an off-by-one issue. Fixed and included in the integration test.
2012-12-13 22:10:11 -05:00
Ryan Poplin 211a6e78ea Further related bug fixes to GGA mode in the HC: some variants (especially MNPs) were causing problems because they don't have to start at the current location to match the allele being genotyped. Fixed. 2012-12-12 14:53:02 -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
Eric Banks bdda63d973 Related bug fixes to GGA mode in the HC: some variants (especially MNPs) were causing problems because they don't have to start at the current location to match the allele being genotyped. Fixed. 2012-12-10 14:47:04 -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
Eric Banks 406adb8d44 The allele biased downsampling should not abort if there's a reduced read. Rather it should always keep the RR and downsample only original reads in the pileup. 2012-12-05 23:15:36 -05:00
Ryan Poplin 156d6a5e0b misc minor bug fixes to GenotypingEngine. 2012-12-03 12:47:35 -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
Joel Thibault 198923b597 Add ActiveRegionReadState handling 2012-11-28 13:59:57 -05:00
Mauricio Carneiro 97fd5de260 Merging latest CMI updates with UNSTABLE 2012-11-27 09:08:00 -05:00
Ryan Poplin c3b7dd1374 Misc cleanup in the HaplotypeCaller. Cleaning up unused arguments after recent changes to HC-GenotypingEngine 2012-11-26 12:19:11 -05:00
Eric Banks 937ac7290f Lots more GGA fixes for the HC now that I understand what's going on internally. Integration tests pass except for the GGA test which I believe now produces better results. 2012-11-20 16:13:29 -05:00
Eric Banks f0b8a0228f Quick fix for HC refactoring: when copying over Haplotype objects, make sure to copy over the artificial allele used to create it too. 2012-11-19 09:57:55 -05:00
Eric Banks ff180a8e02 Significant refactoring of the Haplotype Caller to handle problems with GGA. The main fix is that we now maintain a mapping from 'original' allele to 'Smith-Waterman-based' allele so that we no longer need to do a (buggy) matching throughout the calling process. 2012-11-19 09:09:57 -05:00
Mauricio Carneiro 8b749673bc centralize header element removal in reduce reads 2012-11-14 13:59:34 -05:00
Mauricio Carneiro e35fd1c717 Merging CMI-0.5.0 and GATK-2.2 together. 2012-11-14 10:42:03 -05:00
Mauricio Carneiro a079d8d0d1 Breaking the utility to write @PG tags for SAMFileWriters and StingSAMFileWriters 2012-11-14 10:33:22 -05:00
Mauricio Carneiro dba31018f4 Implementation of BySampleSAMFileWriter
ReduceReads now works with the n-way-out capability, splitting by sample.
DEV-27 #resolve #time 3m
2012-11-14 10:33:22 -05:00
Mauricio Carneiro a17cd54b68 Co-Reduction implementation in ReduceReads
ReduceReads now co-reduces bams if they're passed in toghether with multiple -I. Co-reduction forces every variant region in one sample to be a variant region in all samples.
Also:
  * Added integrationtest for co-reduction
  * Fixed bug with new no-recalculation implementation of the marksites object where the last object wasn't being removed after finalizing a variant region (updated MD5's accordingly)

DEV-200 #resolve #time 8m
2012-11-14 10:33:21 -05:00
Eric Banks 0a2dded093 Fixes for bugs uncovered by unit tests 2012-11-06 16:07:40 -08:00
Eric Banks b07106b3a7 Reimplement the allele biased downsampling to be smarter. Now we don't blindly pull n% of reads off of each allele. Instead, we try all possible genotype conformations for the contaminating sample and choose the one that provides the best genotype for the target sample (based heuristically on allele balance). This method allows us to save some of the reads that belong to the target sample, which should make Daniel M happy. Added unit tests to test the biased downsampling functionality. 2012-11-06 14:39:58 -08:00
Mark DePristo 1444cd753b Bugfix for GSA-647 HaplotypeCaller misses good variant because the active region doesn't trigger for an exome
-- The logic for determining active regions was a bit broken in the HC when intervals were used in the system
-- TraverseActiveRegions now uses the AllLocus view, since we always want to see all reference sites, not just those covered.  Simplifies logic of TAR
-- Non-overlapping intervals are always treated as separate objects for determing active / inactive state.  This means that each exon will stand on its own when deciding if it should be active or inactive
-- Misc. cleanup, docs of some TAR infrastructure to make it safer and easier to debug in the future.
-- Committing the SingleExomeCalling script that I used to find this problem, and will continue to use in evaluating calling of a single exome with the HC
-- Make sure to get all of the reads into the set of potentially active reads, even for genomic locations that themselves don't overlap the engine intervals but may have reads that overlap the regions
-- Remove excessively expensive calls to check bases are upper cased in ReferenceContext
-- Update md5s after a lot of manual review and discussion with Ryan
2012-11-01 15:34:04 -04:00
Guillermo del Angel 51a9ce28e1 Merge remote-tracking branch 'unstable/master' into develop 2012-10-31 10:29:48 -04:00
Ryan Poplin 4e661847b2 DelocalizedBaseRecalibrator becomes the BaseRecalibrator. 2012-10-29 12:53:39 -04:00
Eric Banks ed11b7dab2 Fix UG parallelization test 2012-10-26 12:10:44 -04:00
Eric Banks 7a706ed345 Fix some of the broken integration tests 2012-10-26 11:23:44 -04:00
Eric Banks a53e03d525 Do not let reduced reads get removed in the contamination down-sampling 2012-10-26 02:13:04 -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 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