Commit Graph

157 Commits (f2b7c6f0e19d84ed4b07c79de6327409a13634d5)

Author SHA1 Message Date
Mark DePristo aa3ee29929 Handle case where the ReadGroup is null in GATKSAMRecord 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 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
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 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
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
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
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
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
Eric Banks 15b8c08132 Apparently CIGAR elements can have 0 length according to the spec, but 0Ms were causing left alignment of indels to fail. Fixed. 2012-11-06 20:53:33 -08:00
Ryan Poplin 008df54575 Bug fix in GATKSAMRecord.getSoftEnd() for reads that are entirely clipped. 2012-10-22 14:21:52 -04:00
Eric Banks 9c088fe3fe Actually a better implementation of GATKSAMRecord.getSoftStart(). Last commit was all wrong. Oops. 2012-10-19 12:41:24 -04:00
Eric Banks f08e5a44da Better implementation of GATKSAMRecord.getSoftStart() 2012-10-19 12:11:18 -04:00
Eric Banks 54f698422c Better implementation for getSoftEnd() in GATKSAMRecord 2012-10-18 09:01:51 -04:00
Mark DePristo 2e94a0a201 Refactor TraversalEngine to extract the progress meter functions
-- Previously these core progress metering functions were all in TraversalEngine, and available to subclasses like TraverseLoci via inheritance.  The problem here is that the upcoming data threads x cpu threads parallelism requires one master copy of the progress metering shared among all traversals, but multiple instantiations of traverse engines themselves.
-- Because the progress metering code has horrible anyway, I've refactored and vastly cleaned up and simplified all of these capabilities into TraversalProgressMeter class.  I've simplified down the classes it uses to work (STILL SOME TODOs in there) so that it doesn't reach into the core GATK engine all the time.  It should be possible to write some nice tests for it now.  By making it its own class, it can protect itself from multi-threaded access with a single synchronized printProgress function instead of carrying around multiple lock objects as before
-- Cleaned up the start up of the progress meter.  It's now handled when the meter is created, so each micro scheduler doesn't have to deal with proper initialization timing any longer
-- Simplified and made clear the interface for shutting down the traversal engines.  There's no a shutdown method in TraversalEngine that's called once by the MicroScheduler when the entire traversing in over.  Nano traversals now properly shut down (was subtle bug I undercovered here).  The printing of on traversal done metering is now handled by MicroScheduler
-- The MicroScheduler holds the single master copy of the progress meter, and doles it out to the TraversalEngines (currently 1 but in future commit there will be N).
-- Added a nice function to GenomeAnalysisEngine that returns the regions we will be processing, either the intervals requested or the whole genome.  Useful for progress meter but also probably for other infrastructure as well
-- Remove a lot of the sh*ting Bean interface getting and setting in MicroScheduler that's no longer useful.  The generic bean is just a shell interface with nothing in it.
-- By removing a lot of these bean accessors and setters many things are now final that used to be dynamic.
2012-09-10 20:14:13 -04:00
David Roazen d2f3d6d22f Revert "Separated out the DoC calculations from the XHMM pipeline, so that CalcDepthOfCoverage can be used for calculating joint coverage on a per-base accounting over multiple samples (e.g., family samples)"
This reverts commit 075c56060e0ffcce39631693ef39cf5f8c3a4d5a.
2012-09-10 15:52:39 -04:00
Menachem Fromer 0b717e2e2e Separated out the DoC calculations from the XHMM pipeline, so that CalcDepthOfCoverage can be used for calculating joint coverage on a per-base accounting over multiple samples (e.g., family samples) 2012-09-10 15:32:41 -04:00
David Roazen cb84a6473f Downsampling: experimental engine integration
-Off by default; engine fork isolates new code paths from old code paths,
so no integration tests change yet

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

-There are temporarily two independent versions of LocusIteratorByState.
Anyone changing one version should port the change to the other (if possible),
and anyone adding unit tests for one version should add the same unit tests
for the other (again, if possible). This situation will hopefully be extremely
temporary, and last only until the experimental implementation is proven.
2012-09-06 15:03:27 -04:00
Ryan Poplin 35baf0b155 This along with Mauricio's previous commit (thanks!) fixes GSA-522. There are no longer any modifications to reads in the map calls of ActiveRegion walkers. Added the bam which identified this error as a new integration test. 2012-08-30 09:07:36 -04:00
Eric Banks ded0e11b45 Killing off some FindBugs 'Realiability' issues 2012-08-16 14:00:48 -04:00
Eric Banks eca9613356 Adding support of X and = CIGAR operators to the GATK 2012-08-10 14:54:07 -04:00
Guillermo del Angel 238d55cb61 Fixes for running HaplotypeCaller with reduced reads: a) minor refactoring, pulled out code to compute mean representative count to ReadUtils, b) Don't use min representative count over kmer when constructing de Bruijn graph - this creates many paths with multiplicity=1 and makes us lose a lot of SNP's at edge of capture targets. Use mean instead 2012-08-06 20:22:12 -04:00
Eric Banks 10111450aa Fixed AlignmentUtils bug for handling Ns in the CIGAR string. Added a UG integration test that calls a BAM with such reads (provided by a user on GetSatisfaction). 2012-07-31 15:37:22 -04:00
Mark DePristo f7133ffc31 Cleanup syntax errors from BQSR reorganization 2012-07-31 08:11:05 -04:00
Mark DePristo e00ed8bc5e Cleanup BQSR classes
-- Moved most of BQSR classes (which are used throughout the codebase) to utils.recalibration.  It's better in my opinion to keep commonly used code in utils, and only specialized code in walkers.  As code becomes embedded throughout GATK its should be refactored to live in utils
-- Removed unncessary imports of BQSR in VQSR v3
-- Now ready to refactor QualQuantizer and unit test into a subclass of RecalDatum, refactor unit tests into RecalDatum unit tests, and generalize into hierarchical recal datum that can be used in QualQuantizer and the analysis of adaptive context covariate
-- Update PluginManager to sort the plugins and interfaces.  This allows us to have a deterministic order in which the plugin classes come back, which caused BQSR integration tests to temporarily change because I moved my classes around a bit.
2012-07-31 08:11:03 -04:00
Ryan Poplin 22bb4804f0 HaplotypeCaller now use an excessive number of high quality soft clips as a triggering signal in order to capture both end points of a large deletion in a single active region. 2012-07-27 12:44:02 -04:00
Eric Banks dd571d9aa0 Added a --no_indel_quals argument that when used with -BQSR inhibits the writing of base insertion and base deletion quality tags. 2012-07-04 01:22:20 -04:00
Ryan Poplin 7e7b4cd1b9 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-02 16:37:54 -04:00
Mauricio Carneiro 3cea080aa8 Cache SoftStart() and SoftEnd() in the GATKSAMRecord
these are costly operations when done repeatedly on the same read.
2012-07-02 16:22:00 -04:00
Mauricio Carneiro 88a02fa2cb Fixing but for reads with cigars like 9S54H
When hard-clipping predict when the read is going to be fully hard clipped to the point where only soft/hard-clips are left in the read and preemptively eliminate the read before the SAMRecord mathematics on malformed cigars kills the GATK.
2012-07-02 16:22:00 -04:00
Ryan Poplin 05791ebf80 Adding the Clipping rank sum test: If alternate-supporting reads have more hard clipping than reference-supporting reads this is evidence for error. 2012-06-28 13:22:56 -04:00
Ryan Poplin 429ad44421 Bug fix for read pos rank sum test annotation. Shouldn't be using the un-hardclipped start as the alignment start. 2012-06-22 14:53:29 -04:00
Mauricio Carneiro ab53220635 Refactor on how RR treats soft clips
* Sites with more soft clipped bases than regular will force-trigger a variant region
   * No more unclipping/reclipping, RR machinery now handles soft clips natively.
   * implemented support for base insertion and base deletion quality scores in synthetic and regular reads.
   * GATKSAMRecord clone() now creates a fresh object for temporary attributes if one is present.

note: SAMRecords create a shallow copy of the tempAttribute object which was causing multiple reads (that came from the same read) to have their temporary attributes modified by one another inside reduce reads. Beware, if you're not using GATKSAMRecord!
2012-06-21 14:02:03 -04:00
Mauricio Carneiro 7d12429917 First step towards indel qualities in RR
Let the BI's and BD's pass through the reduce reads machinery
2012-06-14 15:37:39 -04:00
Mauricio Carneiro e68038c5d8 Refactor post-processing downsampling using David's generic downsampler interface 2012-06-14 15:37:32 -04:00
Mauricio Carneiro 4aad7e23ef New ReduceReads v2 with unclipped variant regions and soft-clipped bases
* Re-wrote the sliding window approach to allow the variant region not to clip the reads that overlap it.
   * Updated consensus to include only reads that were not passed on by the variant region, header counts are updated on the fly to avoid recompute
   * Added soft clipped bases to ReduceReads analysis by unclipping high quality soft-clips then re-clipping after reduce reads
   * Updated all integration tests
2012-06-08 14:58:31 -04:00
Ryan Poplin d449f169d3 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-06-07 10:56:55 -04:00
Ryan Poplin 0b4281fdd0 misc minor update to HC debug output for when there are a lot of samples 2012-06-07 10:56:41 -04:00
Eric Banks 54f682a99c Unify to NGSPlatform framework. TechnologyComposition annotation now generalizes to Illumina and not just SLX. 2012-06-06 11:44:37 -04:00
Eric Banks dd46d843fb IR should skip Ion reads just like it does with 454 reads; Tim has confirmed that official platform name for Ion. 2012-06-06 11:04:55 -04:00
Ryan Poplin f11e7ebc3a Fixing the previous fix related to clipping. Adding extra reference padding in the HaplotypeCaller to get those larger alleles during GGA. 2012-06-04 12:49:36 -04:00
Ryan Poplin 320956ee4b Bug fix in clipping function in ReadUtils for when the read ends at exactly the clipping boundary. Bug fixes in HaplotypeCaller GGA mode for when Smith-Waterman produces a different allele than what was given in the input alleles VCF. GGA mode now works with multiallelic records. Adding min pruning factor argument which is combined with the pruning factor that is determined dynamically by the coverage. 2012-06-04 10:55:36 -04:00
Mauricio Carneiro 08dbd756f3 Quick QC walkers to look at the error profile of indels in the read 2012-04-27 15:18:07 -04:00
Khalid Shakir 9801dd114f Bug fix for: https://getsatisfaction.com/gsa/topics/problem_with_indelrealigner_and_l_unmapped
The GATK -L unmapped is for GenomeLocs with SAMRecord.NO_ALIGNMENT_REFERENCE_NAME, not SAMRecord.getReadUnmappedFlag()
Previously unmapped flag reads in the last bin were being printed while also seeking for the reads without a reference contig.
2012-04-27 09:58:38 -04:00