Commit Graph

2513 Commits (ee2f12e2ac5c4e04d7e99135ee17f4faf4d731be)

Author SHA1 Message Date
Mark DePristo 59b5913b54 Merged bug fix from Stable into Unstable 2012-08-25 14:53:22 -04:00
Mark DePristo dcc972a557 Usability cleanup for BQSR
-- I'm seeing a lot of people trying to use BinaryTagCovariate in the community.  They really shouldn't do this, so I moved it to private.
-- Throw an exception if its required bintag argument is missing
-- Check explicitly if user is requesting DinucCovariate and tell them that its been retired in favor of ContextCovariate
-- Show the type (Required, Experimental, Standard) of the covariates when running --list
2012-08-25 14:53:00 -04:00
Christopher Hartl b59948709f Code improvements re: JIRA GSA-510. Trio class migrated into the Samples package - because the trio structure is so ubiquitously used, it makes sense, I think, to have a class which imposes the structure on the samples. Existing functions which slightly duplicated the getTrios() method look like they have bugs. These functions are now deprecated.
A number of functions int he sampleDB looked to be assuming that samples could not share IDs (e.g. sample IDs are unique, so a sample present in two families could not be represented by multiple Sample objects). Added an assertion in the SampleDBBuilder to document/test this assumption.

MVLikelihoodRatio now uses the trio methods from SampleDB.
2012-08-25 08:48:27 -07:00
Mark DePristo 0996bbd548 Comments for Chris on cleanup 2012-08-24 16:04:58 -04:00
Mark DePristo 649b82ce85 Merge branch 'nanoScheduler'
Conflicts:
	private/scala/qscript/org/broadinstitute/sting/queue/qscripts/performance/GATKPerformanceOverTime.scala
2012-08-24 15:59:36 -04:00
Mark DePristo 9de8077eeb Working (efficient?) implementation of NanoScheduler
-- Groups inputs for each thread so that we don't have one thread execution per map() call
-- Added shutdown function
-- Documentation everywhere
-- Code cleanup
-- Extensive unittests
-- At this point I'm ready to integrate it into the engine for CPU parallel read walkers
2012-08-24 15:34:23 -04:00
Christopher Hartl 752f44c332 Code cleanup in MVLR and SelectVariants. Should fix JIRA GSA-509 and GSA-510 2012-08-24 12:25:11 -07:00
Mark DePristo d6e6b30caf Initial implementation of GSA-515: Nanoscheduler
– Write general NanoScheduler framework in utils.threading. Test with reading via iterator from list of integers, map is int * 2, reduce is sum. Should be efficiency using resources to do sum of 2 * (sum(1 - X)).

Done!

CPU parallelism is nano threads. Pfor across read / map / reduce. Use work queue to implement.
Create general read map reduce framework in utils. Test parallelism independently before hooking up to Locus iterator
Represent explicitly the dependency graph. Scheduler should choose the work units that are ready for computation, that are marked as "completing a computation", and then finally that maximize the number of sequent available work units. May be worth measuring expected cost for read read / map / reduce unit and use it to balance the compute
As input is single threaded just need one thread to populate inputs, which runs as fast as possible on parallel pushing data to fixed size queue. Each push creates map job and links to upcoming reduce job.
Note that there's at most one thread for IO tasks, and all of the threads can contribute to CPU tasks
2012-08-24 14:07:44 -04:00
Eric Banks 0545664f91 Fix ClassCastException seen in Tableau errors 2012-08-24 13:45:48 -04:00
Eric Banks 740520c23b Fix BQSR docs 2012-08-24 13:20:10 -04:00
Ryan Poplin 5f8574bd15 Fixing typo in error message. 2012-08-24 10:48:41 -04:00
Mark DePristo 1999b95754 Work around for GSA-513: ClassCastException in VariantEval 2012-08-23 18:14:49 -04:00
Christopher Hartl f1166d6d00 Spotted a potential bug where sample IDs passed in from the meta data were only checked against the sample IDs in the VCF header if the input file happened to be a meta data file rather than a fam file. Added a check for fam files as well, and added an integration test to cover each case. 2012-08-23 11:43:19 -07:00
Mark DePristo 857b11b26f Done with GSA-506: Add nt and efficiency information to GATKRunReport
-- GATKRunReports contain itemized information about the numThreads used to execute the GATK, as well as the efficiency of the use of those threads to get real work done, including time spent running, waiting, blocking, and waiting for IO
-- See https://jira.broadinstitute.org/browse/GSA-506 for more details
2012-08-23 09:59:53 -04:00
Mark DePristo 0b735884db Cleanup code in VariantContext 2012-08-23 09:59:53 -04:00
Eric Banks e5df91aa23 Looks like the @WalkerName annotation doesn't work with the GATK docs, so I'm renaming the walkers. 2012-08-22 20:17:39 -04:00
Mark DePristo 63af0cbcba Cleanup GATK efficiency monitor classes
-- Invert logic in GATKArgumentCollection to disable monitoring, not enable.  That means monitoring is on by default
-- Fix testing error in unit tests
-- Rename variables in ThreadAllocation to be clearer
2012-08-22 16:48:02 -04:00
Mark DePristo e1293f0ef2 GSA-507: Thread monitoring refactored so it can work without a thread factory
-- Old version StateMonitoringThreadFactory refactored into base class ThreadEfficiencyMonitor and subclass EfficiencyMonitoringThreadFactory.
-- Base class is used by LinearMicroScheduler to monitor performance of GATK in single threaded mode
-- MicroScheduler now handles management of the efficiency monitor.  Includes master thread in monitor, meaning that reduce is now included for both schedulers
2012-08-22 16:48:01 -04:00
Mark DePristo f876c51277 Separately track time spent doing user and system CPU work
-- Allows us to ID (by proxy) time spent doing IO
-- Refactor StateMonitoryingThreadFactory to use it's own enum, not Thread.State
-- Reliable unit tests across mac and unix
2012-08-22 16:48:01 -04:00
Mark DePristo 18060f237b Add thread efficiency monitoring to GATK HMS
-- See https://jira.broadinstitute.org/browse/GSA-502
-- New command line argument -mt enables thread monitoring
-- If enabled, HMS uses StateMonitoringThreadFactory to create monitored threads, and prints out an efficiency report when HMS exits, telling the user information like:

for BQSR – known to be inefficient locking
INFO 17:10:33,195 StateMonitoringThreadFactory - Number of activeThreads used: 8
INFO 17:10:33,196 StateMonitoringThreadFactory - Total runtime 90.3 m
INFO 17:10:33,196 StateMonitoringThreadFactory - Fraction of time spent blocked is 0.72 ( 64.8 m)
INFO 17:10:33,197 StateMonitoringThreadFactory - Fraction of time spent running is 0.26 ( 23.7 m)
INFO 17:10:33,197 StateMonitoringThreadFactory - Fraction of time spent waiting is 0.02 ( 112.8 s)
INFO 17:10:33,197 StateMonitoringThreadFactory - Efficiency of multi-threading: 26.19% of time spent doing productive work

for CountLoci
INFO 17:06:12,777 StateMonitoringThreadFactory - Number of activeThreads used: 8
INFO 17:06:12,777 StateMonitoringThreadFactory - Total runtime 43.5 m
INFO 17:06:12,778 StateMonitoringThreadFactory - Fraction of time spent blocked is 0.00 ( 4.2 s)
INFO 17:06:12,778 StateMonitoringThreadFactory - Fraction of time spent running is 1.00 ( 43.3 m)
INFO 17:06:12,779 StateMonitoringThreadFactory - Fraction of time spent waiting is 0.00 ( 6.0 s)
INFO 17:06:12,779 StateMonitoringThreadFactory - Efficiency of multi-threading: 99.61% of time spent doing productive work
2012-08-22 16:48:01 -04:00
Ryan Poplin fe3069b278 Merged bug fix from Stable into Unstable 2012-08-22 14:40:34 -04:00
Ryan Poplin e5cfdb4811 Bug fix for popular _Duplicate allele added to VariantContext_ error reported on the forum. It seems to be due to lower case bases in the reference being treated as reference mismatches. We would try to turn these mismatches into SNP events, for example c/C. We now uppercase the result from IndexedFastaSequenceFile.getSubsequenceAt() 2012-08-22 14:39:35 -04:00
Ryan Poplin 63213e8eb5 Expanding the HaplotypeCaller integration tests to cover a wider range of data 2012-08-22 14:18:44 -04:00
Eric Banks 944e1c299d Docs for --keepOriginalAC were wrong in SelectVariants 2012-08-22 13:07:13 -04:00
Eric Banks 2409aa9bfd Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-22 12:54:43 -04:00
Eric Banks 94540ccc27 Using the simple VCBuilder constructor and then subsequently trying to modify attributes was throwing a NPE. This is easily solved (without a performance hit) by initializing the attributes map to an immutable Collections.emptyMap(). Added unit test to cover this case. 2012-08-22 12:54:29 -04:00
Guillermo del Angel 901f47d8af Final step (for now) in VA refactoring: update MD5's because, a) since it's not guaranteed that we'll iterate through reads/pileups in the same order, the rank sum dithering will change annotations, b) FS uses new generic threshold to distinguish uninformative reads (it used to use ad-hoc thresholds), c) AD definition changed and throws away uninformative reads, d) shortened general ploidy integration tests for quicker debugging. May have missed some MD5's in the update so there may be lingering test failures still 2012-08-22 11:38:51 -04:00
Guillermo del Angel 7df0abf49b Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-22 11:36:41 -04:00
Eric Banks 9e76e8aa0b Just noticed that the efficient conversion to uppercase method is redundant since it's already implemented efficiently in Picard; let's just have a single implementation. 2012-08-22 11:26:08 -04:00
Christopher Hartl 20601f034e Updating the checkType() function to include the new StructuralIndel variant type. Fixes outstanding broken integration test. 2012-08-22 07:33:10 -07:00
Eric Banks c7ce3e1cf5 Merged bug fix from Stable into Unstable 2012-08-22 00:24:40 -04:00
Eric Banks 03017855e4 WTF - why is support for whole-read insertions all messed up in LIBS? I've pushed a temporary patch for now (the right solution should certainly not be implemented in stable; LIBS needs to be better thought out). Added another unit test. 2012-08-22 00:24:01 -04:00
Mark DePristo 6ce8016ae7 GSA-491: Add hidden tag to GATK that propagates to the GATK logs 2012-08-21 14:44:18 -04:00
Guillermo del Angel 6a8cf1c84a Enable and adapt HaplotypeScore and MappingQualityZero as active region annotations now that we have per-read likelihoods passed in to annotations 2012-08-21 14:35:40 -04:00
Guillermo del Angel d0644b3565 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-21 10:35:23 -04:00
Ryan Poplin 94e7f677ad Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-21 10:21:47 -04:00
Guillermo del Angel 418ace463a More merge conflict resolution 2012-08-21 10:15:52 -04:00
Ryan Poplin 10961db3ce Another round of FindBugs fixes. Object returns its internal reference to an externally mutable array. Very dangerous. 2012-08-21 09:35:55 -04:00
Ryan Poplin 605acaae9c Another round of FindBugs fixes. Object internally stores a reference to an externally mutable array. Very dangerous. 2012-08-21 09:33:58 -04:00
Ryan Poplin 55b7949d68 Another round of FindBugs fixes. Comparator doesn't implement Serializable. 2012-08-21 09:20:55 -04:00
Christopher Hartl ba8622ff0d number of stashed changes are lurking in here. In order of importance:
- Fix for M_Trieb's error report on the forum, and addition of integration tests to cover the walker.
 - Addition of StructuralIndel as a class of variation within the VariantContext. These are for variants with a full alt allele that's >150bp in length.
 - Adaptation of the MVLikelihoodRatio to work for a set of trios (takes the max over the trios of the MVLR)
 - InsertSizeDistribution changed to use the new gatk report output (it was previously broken)
 - RetrogeneDiscovery changed to be compatible with the new gatk report
 - A maxIndelSize argument added to SelectVariants
 - ByTranscriptEvaluator rewritten for cleanliness
 - VariantRecalibrator modified to not exclude structural indels from recalibration if the mode is INDEL
 - Documentation added to DepthOfCoverageIntegrationTest (no, don't yell at chartl ;_; )

Also sorry for the long commit history behind this that is the result of fixing merge conflicts. Because this *also* fixes a conflict (from git stash apply), for some reason I can't rebase all of them away. I'm pretty sure some of the commit notes say "this note isn't important because I'm going to rebase it anyway".
2012-08-21 07:08:58 -04:00
Eric Banks 3dfe8df262 Merged bug fix from Stable into Unstable 2012-08-20 23:12:58 -04:00
Eric Banks 40d5efc804 Fix for Adam K's reported bug: we weren't handling reads that were entirely insertions properly in LIBS. Specifically, the event bases were off-by-one (which was disasterous in Adam's case with a 1bp read). Added a unit test to cover this case. 2012-08-20 23:12:41 -04:00
Eric Banks 286b658fab Re-enabling parallelism in the BaseRecalibrator now that the release is out. 2012-08-20 21:25:14 -04:00
Guillermo del Angel 7bbd2a7a20 Fixing merge conflicts 2012-08-20 20:38:25 -04:00
Guillermo del Angel 2041cb853c New implementation of AD - ignore now non-informative reads based on per-read likelihoods 2012-08-20 20:31:34 -04:00
Ryan Poplin 77fbaec044 Another round of FindBugs fixes. Class implements its own compareTo() but uses base Object.equals() which can lead to unpredictable behavior. 2012-08-20 16:55:00 -04:00
Ryan Poplin 5e28bca630 Another round of FindBugs fixes. Should be static inner class. 2012-08-20 16:15:48 -04:00
Ryan Poplin 5db3bd6fd2 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-20 15:28:57 -04:00
Ryan Poplin 464d49509a Pulling out common caller arguments into its own StandardCallerArgumentCollection base class so that every caller isn't exposed to the unused arguments from every other caller. 2012-08-20 15:28:39 -04:00
Eric Banks 4450d66c64 Fixing the docs for DP and AD 2012-08-20 15:10:24 -04:00
Ryan Poplin c67d708c51 Bug fix in HaplotypeCaller for non-regular bases in the reference or reads. Those events don't get created any more. Bug fix for advanced GenotypeFullActiveRegion mode: custom variant annotations created by the HC don't make sense when in this mode so don't try to calculate them. 2012-08-20 13:41:08 -04:00
Guillermo del Angel 5b5fee56cf Next iteration of new VA interface: extend changes to per-genotype annotations as well. Will allow to have AD correctly implemented at last (that change not done yet) 2012-08-20 12:52:15 -04:00
Eric Banks 154f65e0de Temporarily disabling multi-threaded usage of BaseRecalibrator for performance reasons. 2012-08-20 12:43:17 -04:00
Guillermo del Angel c384677917 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-20 10:27:25 -04:00
Eric Banks 97b191f578 Thanks to Guillermo I was able to isolate an instance of where the MLEAC > AN. It turns out that this is valid, e.g. when PLs are all 0s for a sample we no-call it but it's allowed to factor into the MLE (since that's the contract with the exact model). Removing the check in UG and instead protecting for it in the AlleleCount stratification. 2012-08-20 01:16:23 -04:00
Guillermo del Angel 963ad03f8b Second step of interface cleanup for variant annotator: several bug fixes, don't hash pileup elements to Maps because the hashCode() for a pileup element is not implemented and strange things can happen. Still several things to do, not done yet 2012-08-19 21:18:18 -04:00
Mark DePristo 7fa76f719b Print "Parsing data stream with BCF version BCFx.y" in BCF2 codec as .debug not .info 2012-08-19 10:32:55 -04:00
Mark DePristo 9121b98167 CombineVariants outputs the first non-MISSING qual, not the maximum
-- When merging multiple VCF records at a site, the combined VCF record has the QUAL of the first VCF record with a non-MISSING QUAL value.  The previous behavior was to take the max QUAL, which resulted in sometime strange downstream confusion.
2012-08-19 10:29:38 -04:00
Guillermo del Angel d9641e3d57 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-19 09:23:21 -04:00
Mauricio Carneiro d16cb68539 Updated and more thorough version of the BadCigar read filter
* No reads with Hard/Soft clips in the middle of the cigar
   * No reads starting with deletions (with or without preceding clips)
   * No reads ending in deletions (with or without follow-up clips)
   * No reads that are fully hard or soft clipped
   * No reads that have consecutive indels in the cigar (II, DD, ID or DI)

 Also added systematic test for good cigars and iterative test for bad cigars.
2012-08-17 17:05:27 -04:00
Mark DePristo 980685af16 Fix GSA-137: Having both DataSource.REFERENCE and DataSource.REFERENCE_BASES is confusing to end users.
-- Removed REFERENCE_BASES option.  You only have REFERENCE now.  There's no efficiency savings for the REFERENCE_BASES option any longer, since the reference bases are loaded lazy so if you don't use them there's effectively no cost to making the RefContext that could load them.
2012-08-17 14:55:38 -04:00
Eric Banks 2676b7fc2e Put in a sanity check that MLEAC <= AN 2012-08-17 11:49:53 -04:00
Mark DePristo daa26cc64e Print to logger not to System.out in CachingIndexFastaSequenceFile when profiling cache performance 2012-08-17 11:49:02 -04:00
Mark DePristo be0f8beebb Fixed GSA-434: GATK should generate error when gzipped FASTA is passed in.
-- The GATK sort of handles this now, but only if you have the exactly correct sequence dictionary and FAI files associated with the reference.  If you do, the file can be .gz.  If not, the GATK will fail on creating the FAI and DICT files.  Added an error message that handles this case and clearly says what to do.
2012-08-17 11:49:02 -04:00
Mark DePristo a3d2764d11 Fixed: GSA-392 @arguments with just a short name get the wrong argument bindings
-- Now blows up if an argument begins with -.  Implementation isn't pretty, as it actually blows up during Queue extension creation with a somewhat obscure error message but at least its something.
2012-08-17 11:49:01 -04:00
Mark DePristo 4c0f198d48 Potential fix for GSA-484: Incomplete writing of temp BCF when running CombineVariants in parallel
-- Keep reading from BCF2 input stream when read(byte[]) returns < number of needed bytes
-- It's possible (I think) that the failure in GSA-484 is due to multi-threading writing/reading of BCF2 records where the underlying stream is not yet flushed so read(byte[]) returns a partial result.  No loops until we get all of the needed bytes or EOF is encounted
2012-08-17 11:49:01 -04:00
Mark DePristo de3be45806 Proper function call in BCF2Decoder to validateReadBytes 2012-08-17 11:49:01 -04:00
Eric Banks 53383e82ec Hmm, not good. Fixing the math in PBT resulted in changed MD5s for integration tests that look like significant changes. I am reverting and will report this to Laurent. 2012-08-16 21:41:18 -04:00
Eric Banks 65c594afff Better error message for reads that begin/end with a deletion in LIBS 2012-08-16 21:27:07 -04:00
Guillermo del Angel b61ecc7c19 Fix merge conflicts 2012-08-16 20:45:52 -04:00
Guillermo del Angel d26183e0ec First preliminary big refactoring of UG annotation engine. Goals: a) Remove gigantic hack that cached per-read haplotype likelihoods in a static array so that annotations would go back and retrieve them, b) unify interface for annotations between HaplotypeCaller and UnifiedGenotyper, c) as a consequence, removed and cleaned duplicated code. As a bonus, annotations have now more relevant info to help them compute values.
Major idea is that per-read haplotype likelihoods are now stored in a single unified object of class PerReadAlleleLikelihoodMap. Class implementation in theory hides internal storage details from outside work (still may need work cleaning up interface), and this object(or rather, a Map from Sample->perReadAlleleLikelihoodMap) is produced by UGCalcLikelihoods. The genotype calculation is also able to potentially use this info if needed. All InfoFieldAnnotations now get an extra argument with this map. Currently, this map is only produced for indels in UG, or for all variants within HaplotypeCaller. If this map is absent (SNPs in UG), the old Pileup interface is used, but it's avoided whenever possible. FORMAT annotations are not yet changed but will be focus of second step. Major benefit will be that annotations will be able to very easily discard non-informative reads for certain events. HaplotypeCaller also uses this new class, and no longer hard-codes the mapping of allele ->list(reads) but instead uses the same objects and interfaces as the rest of the modules. Code still needs further testing/cleaning/reviewing/debugging
2012-08-16 20:36:53 -04:00
Mark DePristo 6a2862e8bc GSA-483: Bug in GATKdocs for Enums
-- Fixed to no long show constants in enums as constant values in the gatkdocs
2012-08-16 16:24:17 -04:00
Eric Banks 3253fc216b FindBugs 'Maintainability' fixes 2012-08-16 15:53:06 -04:00
Eric Banks 05cbf1c8c0 FindBugs 'Efficiency' fixes 2012-08-16 15:40:52 -04:00
Mark DePristo d8071c66ed Removing SlowGenotype object from GATK 2012-08-16 15:23:06 -04:00
Eric Banks a22e7a5358 Should've run 'ant clean' instead of just 'ant'. In any event, these are 2 cases where we are setting a class's internal static variable directly. Very dangerous. 2012-08-16 15:07:32 -04:00
Eric Banks 47b4f7b7e5 One final FindBugs related fix. I think it's safe to consider these changes 'fixes' that are allowed to go in during a code freeze. 2012-08-16 14:59:05 -04:00
Eric Banks ded0e11b45 Killing off some FindBugs 'Realiability' issues 2012-08-16 14:00:48 -04:00
Eric Banks dac3958461 Killing off some FindBugs 'Usability' issues 2012-08-16 13:32:44 -04:00
Eric Banks 611d9b61e2 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-16 13:05:36 -04:00
Eric Banks 2df04dc48a Fix for performance problem in GGA mode related to previous --regenotype commit. Instead of trying to hack around the determination of the calculation model when it's not needed, just simply overload the calculateGenotypes() method to add one that does simple genotyping. Re-enabling the Pool Caller integration tests. 2012-08-16 13:05:17 -04:00
Mark DePristo 132cdfd9c1 GSA-488: MLEAC > AN error when running variant eval fixed 2012-08-16 13:03:14 -04:00
Mark DePristo 4e42988c66 GSA-485: Remove repairVCFHeader from GATK codebase
-- Removed half-a*ssed attempt to automatically repair VCF files with bad headers, which allowed users to provide a replacement header overwriting the file's actually header on the fly.  Not a good idea, really.  Eric has promised to create a utility that walks through a VCF file and creates a meaningful header field based on the file's contents (if this ever becomes a priority)
2012-08-16 13:03:13 -04:00
Mark DePristo 52bfe8db8a Make sure the storage writer is closed before running mergeInfo in multi-threaded output management
-- It's not clear this is cause of GSA-484 but it will help confirm that it's not the cause
2012-08-16 13:03:13 -04:00
Mark DePristo 7a247df922 Added -bcf argument to VCFWriter output to force BCF regardless of file extension
-- Now possible to do -o /dev/stdout -bcf -l DEBUG > tmp.bcf and create a valid BCF2 file
-- Cleanup code to make sure extensions easier by moving to a setX model in VariantContextWriterStub
2012-08-16 13:03:13 -04:00
Mark DePristo 28c8e3e6d7 Cleanup BCF2Codec
-- Remove FORBID_SYMBOLIC global that is no longer necessary
-- all error handling goes via error() function
2012-08-16 13:03:13 -04:00
Mark DePristo 9dc694b2e9 Meaningful error message and keeping tmp file when mergeInfo fails
-- BCF2 is failing for some reason when merging tmp. files with parallel combine variants.  ThreadLocalOutputTracker no longer sets deleteOnExit on the tmp file, as this prevents debugging.  And it's unnecessary because each mergeInto was deleting files as appropriate
-- MergeInfo in VariantContextWriterStorage only deletes the intermediate output if an error occurs
2012-08-16 13:03:13 -04:00
Eric Banks f368e568db Implementing support in BaseRecalibrator for SOLiD no call strategies other than throwing an exception. For some reason we never transfered these capabilities into BQSRv2 earlier. 2012-08-15 22:52:56 -04:00
Eric Banks 9d09230c26 Better docs for verbose output of Pileup 2012-08-15 21:55:08 -04:00
Mark DePristo c0a31b2e5b CombineVariants parallel integration tests
-- All tests but one (using old bad VCF3 input) run unmodified with parallel code.
-- Disabled UNSAFE_VCF_PROCESSING for all but that test, which changes md5s because the output files have fixed headers
-- Minor optimizations to simpleMerge
2012-08-15 21:13:16 -04:00
Mark DePristo 669c43031a BCF2 optimizations; parallel CombineVariants
-- BCF2 now determines whether it can safely write out raw genotype blocks, which is true in the case where the VCF header of the input is a complete, ordered subset of the output header.  Added utilities to determine this and extensive unit tests (headerLinesAreOrderedConsistently)
-- Cleanup collapseStringList and exploreStringList for new unit tests of BCF2Utils.  Fixed bug in edge case that never occurred in practice
-- VCFContigHeaderLine now provides its own key (VCFHeader.CONTIG_KEY) directly instead of requiring the user to provide it (and hoping its right)
-- More ways to access the data in VCFHeader
-- BCF2Writer uses a cache to avoid recomputing unnecessarily whether raw genotype blocks can be emitted directly into the output
-- Optimization of fullyDecodeAttributes -- attributes.size() is expensive and unnecessary.  We just guess that on average we need ~10 elements for the attribute map
-- CombineVariants optimization -- filters are online HashSet but are sorted at the end by creating a TreeSet
-- makeCombinations is now makePermutations, and you can request to create the permutations with or without replacement
2012-08-15 21:13:16 -04:00
Mark DePristo ae4d4482ac Parallel combine variants!
-- CombineVariants is now TreeReducible!
-- Integration tests running in parallel all pass except one (will fix) due to incorrect use of db=0 flag on input from old VCF format
2012-08-15 21:13:15 -04:00
Mark DePristo bd7ed0d028 Enable efficient parallel output of BCF2
-- Previous IO stub was hardcoded to write VCF.  So when you ran -nt 2 -o my.bcf you actually created intermediate VCF files that were then encoded single threaded as BCF.  Now we emit natively per thread BCF, and use the fast mergeInfo code to read BCF -> write BCF.  Upcoming optimizations to avoid decoding genotype data unnecessarily will enable us to really quickly process BCF2 in parallel
-- VariantContextWriterStub forces BCF output for intermediate files
-- Nicer debug log message in BCF2Codec
-- Turn off debug logging of BCF2LazyGenotypesDecoder
-- BCF2FieldWriterManager now uses .debug not .info, so you won't see all of that field manager debugging info with BCF2 any longer
-- VariantContextWriterFactory.isBCFOutput now has version that accepts just a file path, not path + options
2012-08-15 21:13:15 -04:00
Mark DePristo 9459e6203a Clean, documented implementation of ThreadFactory that monitors running / blocking / waiting time of threads it creates
-- Expanded unit tests
-- Support for clean logging of results to logger
-- Refactored MyTime into AutoFormattingTime in Utils, out of TraversalEngine, for cleanliness and reuse
-- Added docs and contracts to StateMonitoringThreadFactory
2012-08-15 21:13:15 -04:00
Mark DePristo be3230a1fd Initial implementation of ThreadFactory that monitors running / blocking / waiting time of threads it creates
-- Created makeCombinations utility function (very useful!).  Moved template from VariantContextTestProvider
-- UnitTests for basic functionality
2012-08-15 21:13:15 -04:00
Mark DePristo f277d7c09e Removing parallelism bottleneck in the GATK
-- GenomeLocParser cache was a major performance bottleneck in parallel GATK performance.  With 10 thread > 50% of each thread's time was spent blocking on the MasterSequencingDictionary object.  Made this a thread local variable.
-- Now we can run the GATK with 48 threads efficiently on GSA4!
  -- Running -nt 1 => 75 minutes (didn't let is run all of the way through so likely would take longer)
  -- Running -nt 24 => 3.81 minutes
2012-08-15 21:13:15 -04:00
Eric Banks 87e41c83c5 In AlleleCount stratification, check to make sure the AC (or MLEAC) is valid (i.e. not higher than number of chromosomes) and throw a User Error if it isn't. Added a test for bad AC. 2012-08-14 15:02:30 -04:00
Eric Banks 8e3774fb0e Fixing behavior of the --regenotype argument in SelectVariants to properly run in GenotypeGivenAlleles mode. Added integration tests to cover recent SV changes. 2012-08-14 14:21:42 -04:00
Eric Banks 34b62fa092 Two changes to SelectVariants: 1) don't add DP INFO annotation if DP wasn't used in the input VCF (it was adding DP=0 previously). 2) If MLEAC or MLEAF is present in the original VCF and the number of samples decreases, remove those annotations from the VC. 2012-08-14 12:54:31 -04:00
Eric Banks cfb994abd2 Trivial removal of ununsed variable (mentioned in resolved JIRA entry) 2012-08-13 22:55:02 -04:00
Khalid Shakir f809f24afb Removed SelectHeader's --include_reference_name option since the reference is always included.
In SelectHeaders instead of including the path to the file, only include the name of the reference since dbGaP does not like paths in headers.
2012-08-13 16:49:27 -04:00
Mark DePristo 6ad75d2f5c Reverting changes to BCF2 ranges
-- The previously expanded ones are actually the missing values in the range.  The previous ranges were correct.  Removed the TODO to confirm them, as they are now officially confirmed
2012-08-13 15:06:28 -04:00
Mark DePristo 4d3fad38e9 Increase allowable range for BCF2 by -1 on low-end 2012-08-13 14:20:26 -04:00
Mark DePristo f032e0aba4 A bit better output for ContextCovariate context size logging 2012-08-12 13:45:52 -04:00
Mark DePristo 243af0adb1 Expanded the BQSR reporting script
-- Includes header page
-- Table of arguments (Arguments)
-- Summary of counts (RecalData0)
-- Summary of counts by qual (RecalData1)
-- Fixed bug in output that resulted in covariates list always being null (updated md5s accordingly)
-- BQSR.R loads all relevant libaries now, include gplots, grid, and gsalib to run correctly
2012-08-12 13:45:14 -04:00
Mark DePristo 458bbdee8f Add useful logger.info telling us the mismatch and indel context sizes 2012-08-12 10:27:05 -04:00
Eric Banks 40f0320a1c When adding a unit test to LIBS for X and = CIGAR operators, I uncovered a bug with the implementation of the ReadBackedPileup.depthOfCoverage() method. 2012-08-10 14:58:29 -04:00
Eric Banks eca9613356 Adding support of X and = CIGAR operators to the GATK 2012-08-10 14:54:07 -04:00
Ami Levy Moonshine 68fb04b8f7 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable into testing 2012-08-09 16:48:22 -04:00
Mark DePristo 06258c8a01 BCF2 optimizations
-- Added Write method to BCF2 types that directly converts int value to byte stream.  Deleted writeRawBytes(int)
-- encodeTypeDescriptor semi-inlined into encodeType so that the tests for overflow are done in just one place
-- Faster implementation of determineIntegerType for int[] values
2012-08-09 16:36:18 -04:00
Mark DePristo c6bd9b15ff BCF2 optimizations
-- BCF2Type enum has an overloaded method to read the type as an int from an input stream.  This gets rid of a case statement and replaces it with just minimum tiny methods that should be better optimized.  As side effect of this optimization is an overall cleaner code organization
2012-08-09 16:36:18 -04:00
Mark DePristo 9a0dda71d4 BCF2 optimizations
-- All low-level reads throw IOException instead of catching it directly.  This allows us to not try/catch in readByte, improving performance by 5% or so
-- Optimize encodeTypeDescriptor with final variables.  Avoid using Math.min instead do inline comparison
-- Inlined willOverflow directly in its single use
2012-08-09 16:36:18 -04:00
Ryan Poplin 9887bc4410 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-09 16:31:06 -04:00
Ryan Poplin f4c72a26d5 A few quick, minor findbugs fixes. 2012-08-09 16:30:58 -04:00
Ryan Poplin c7f22e410f A few quick, minor findbugs fixes. 2012-08-09 16:22:08 -04:00
Eric Banks def077c4e5 There's actually a subtle but important difference between foo++ and ++foo 2012-08-09 12:42:50 -04:00
Ryan Poplin e48727dae3 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-09 10:31:10 -04:00
Guillermo del Angel 5be7e0621d Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-09 09:58:34 -04:00
Guillermo del Angel 71ee8d87b3 Rename per-sample ML allelic fractions and counts so that they don't have the same name as the per-site INFO fields, and clarify wording in VCF header 2012-08-09 09:58:20 -04:00
Eric Banks 35cec8530c Make coverage threshold in FindCoveredIntervals a command-line argument 2012-08-08 21:44:24 -04:00
Ryan Poplin 1223d77546 Removing argument from HaplotypeCaller that was made unneccesary by recent improvements to triggering around large events 2012-08-08 15:13:20 -04:00
Eric Banks 0a2a646a52 Other random FindBugs fixes 2012-08-08 14:56:27 -04:00
Eric Banks 4c84cc9486 Quick pass of FindBugs 'should be static inner class' fixes. 2012-08-08 14:42:06 -04:00
Eric Banks a0196c9f5b Quick pass of FindBugs 'method invokes inefficient Number constructor' fixes. 2012-08-08 14:34:16 -04:00
Eric Banks 4b2e3cec0b Quick pass of FindBugs 'inefficient use of keySet iterator instead of entrySet iterator' fixes for core tools. 2012-08-08 14:29:41 -04:00
Guillermo del Angel 3e2752667c Intermediate checkin for ReducedReads with HaplotypeCaller - change min read count over k-mer to average count over k-mer when doing assembly of a reduced read (not optimal, currently trying max and then will decide on best approach), fix merge conflicts 2012-08-08 12:07:33 -04:00
David Roazen a7811d673f Update URL for phone home / GATK key documentation output by the GATK upon error 2012-08-08 09:29:54 -04:00
Mark DePristo cda8d944b7 Bugfixes for BCF with VQSR
-- Old version converted doubles directly from strings.  New version uses VariantContext getAttributeAsDouble() that looks at the values directly to determine how to convert from Object to Double (via Double.valueOf, (Double), or (Double)(Integer)).
-- getAttributeAsDouble() is now smart in converting integers to doubles as needed
-- Removed unnecessary logging info in BCF2Codec
-- Added integration tests to ensure that VQSR works end-to-end with BCF2 using sites version of the file khalid sent to me
-- Added vqsr.bcf_test.snps.unfiltered.bcf file for this integration test
2012-08-07 17:22:39 -04:00
Mark DePristo 80b94a4f9a AdaptiveContexts implement pruning to a given chi2 p value
-- Added bonferroni corrected p-value pruning, so you tell it how significant of a different you are willing to collapse in the tree, and it prunes the tree down to this maximum threshold
-- Penalty is now a phred-scaled p-value not the raw chi2 value
-- Split command line arguments in VisualizeContextTree into separate arguments for each type of pruning
2012-08-07 17:22:39 -04:00
Mark DePristo 982c735c76 VisualizeAdaptiveTree now considers only leaf nodes when computing max/min penalty 2012-08-07 17:22:39 -04:00
Ryan Poplin 15085bf03e The UnifiedGenotyper now makes use of base insertion and base deletion quality scores if they exist in the reads. 2012-08-07 13:58:22 -04:00
Guillermo del Angel 97c5ed4feb Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-06 20:22:31 -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
Ryan Poplin f1c30c3a59 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-06 12:02:26 -04:00
Mark DePristo 44f160f29f indelGOP and indelGCP are now advanced, not hidden arguments 2012-08-06 11:42:55 -04:00
Mark DePristo 2f004665fb Fixing public -> private dep 2012-08-06 11:42:55 -04:00
Mark DePristo 7bf5ca51ee Major bugfix for adaptive contexts
-- Basically I was treating the context history in the wrong direction, effectively predicting the further bases in the context based on the closer one.  Totally backward.  Updated the code to build the tree in the right direction.
-- Added a few more useful outputs for analysis (minPenalty and maxPenalty)
-- Misc. cleanup of the code
-- Overall I'm not 100% certain this is even the right way to think about the problem.  Clearly this is producing a reasonable output but the sum of chi2 values over the entire tree is just enormous.  Perhaps a MCMC convergence / sampling criterion would be a better way to think about this problem?
2012-08-06 11:42:55 -04:00
Mark DePristo b4841548f1 Bug fixes and misc. improvements to running the adaptive context tools
-- Better output file name defaults
-- Fixed nasty bug where I included non-existant quals in the contexts to process because they showed up in the Cycle covariate
-- Data is processed in qual order now, so it's easier to see progress
-- Logger messages explaining where we are in the process
-- When in UPDATE mode we still write out the information for an equivalent prune by depth for post analysis
2012-08-06 11:42:55 -04:00
Ryan Poplin b8709d8c67 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-06 11:41:28 -04:00
Eric Banks 210db5ec27 Update -maxAlleles argument to -maxAltAlleles to make it more accurate. The hidden GSA production -capMaxAllelesForIndels argument also gets updated. 2012-08-06 11:31:18 -04:00
Eric Banks 8f95a03bb6 Prevent NumberFormatExceptions when parsing the VCF POS field 2012-08-06 11:19:54 -04:00
Ryan Poplin b7eec2fd0e Bug fixes related to the changes in allele padding. If a haplotype started with an insertion it led to array index out of bounds. Haplotype allele insert function is now very simple because all alleles are treated the same way. HaplotypeUnitTest now uses a variant context instead of creating Allele objects directly. 2012-08-05 12:29:10 -04:00
Mark DePristo e1bba91836 Ready for full-scale evaluation adaptive BQSR contexts
-- VisualizeContextTree now can write out an equivalent BQSR table determined after adaptive context merging of all RG x QUAL x CONTEXT trees
-- Docs, algorithm descriptions, etc so that it makes sense what's going on
-- VisualizeContextTree should really be simplified when into a single tool that just visualize the trees when / if we decide to make adaptive contexts standard part of BQSR
 -- Misc. cleaning, organization of the code (recalibation tests were in private but corresponding actual files were public)
2012-08-03 16:02:53 -04:00
Guillermo del Angel 6f8e7692d4 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-08-03 12:24:37 -04:00
Guillermo del Angel 9e25b209e0 First pass of implementation of Reduced Reads with HaplotypeCaller. Main changes: a) Active region: scale PL's by representative count to determine whether region is active. b) Scale per-read, per-haplotype likelihoods by read representative counts. A read representative count is (temporarily) defined as the average representative count over all bases in read, TBD whether this is good enough to avoid biases in GL's. c) DeBruijn assembler inserts kmers N times in graph, where N is min representative count of read over kmer span - TBD again whether this is the best approach. d) Bug fixes in FragmentUtils: logic to merge fragments was wrong in cases where there is discrepancy of overlaps between unclipped/soft clipped bases. Didn't affect things before but RR makes prevalence of hard-clipped bases in CIGARs more prevalent so this was exposed. e) Cache read representative counts along with read likelihoods associated with a Haplotype. Code can/should be cleaned up and unified with PairHMMIndelErrorModelCode, as well as refactored to support arbitrary ploidy in HaplotypeCaller 2012-08-03 12:24:23 -04:00
Ryan Poplin 8817fc70d1 Merged bug fix from Stable into Unstable 2012-08-03 10:45:01 -04:00
Ryan Poplin f40d0a0a28 Updating VQSR to work with the MNP and symbolic variants that are coming out of the HaplotypeCaller. Integration tests change because of the MNPs in dbSNP. 2012-08-03 10:44:36 -04:00
Joel Thibault 51bd03cc36 Add RemoveProgramRecords annotation to ActiveRegionWalker 2012-08-03 09:54:16 -04:00
Joel Thibault addbfd6437 Add a RemoveProgramRecords annotation
* Add the RemoveProgramRecords annotation to LocusWalker
2012-08-03 09:54:16 -04:00
Joel Thibault 524d7ea306 Choose whether to keep program records based on Walker
* Add keepProgramRecords argument
* Make removeProgramRecords / keepProgramRecords override default
2012-08-03 09:54:16 -04:00
Mark DePristo e04989f76d Bugfix for new PASS position in dictionary in BCF2 2012-08-03 09:42:21 -04:00
Mark DePristo fb5dabce18 Update BCF2 to include a minor version number so we can rev (and report errors) with BCF2
-- We are no likely to fail with an error when reading old BCF files, rather than just giving bad results
-- Added new class BCFVersion that consolidates all of the version management of BCF
2012-08-02 17:30:30 -04:00
Eric Banks e3f89fb054 Missing/malformed GATK report files are user errors 2012-08-02 11:33:21 -04:00
Mark DePristo c3c3d18611 Update BCF2 to put PASS as offset 0 not at the end
-- Unfortunately this commit breaks backward compatibility with all existing BCF2 files...
2012-08-01 17:09:22 -04:00
Mark DePristo ccac77d888 Bugfix for incorrect allele counting in IndelSummary
-- Previous version would count all alt alleles as present in a sample, even if only 1 were present, because of the way VariantEval subsetted VCs
-- Updated code for subsetting VCs by sample to be clearer about how it handles rederiving alleles
-- Update a few pieces of code to get previous correct behavior
-- Updated a few MD5s as now ref calls at sites in dbSNP are counted as having a comp sites, and therefore show up in known sites when Novelty strat is on (which I think is correct)
-- Walkers that used old subsetting function with true are now using clearer version that does rederive alleles by default
2012-08-01 15:45:12 -04:00
Joel Thibault 2b25df3d53 Add removeProgramRecords argument
* Add unit test for the removeProgramRecords
2012-08-01 15:33:05 -04:00
Ryan Poplin d53105668b Merged bug fix from Stable into Unstable 2012-08-01 14:53:06 -04:00
Ryan Poplin fabca66d09 Another fix to VQSR docs 2012-08-01 14:52:49 -04:00
Ryan Poplin 2be29ebd22 Merged bug fix from Stable into Unstable 2012-08-01 14:35:30 -04:00
Ryan Poplin 4093909a56 Updating VQSR docs. Removing references to old best practices pages. 2012-08-01 14:30:24 -04:00
Eric Banks 52b93cab62 Merged bug fix from Stable into Unstable 2012-08-01 13:17:36 -04:00
Eric Banks 22bf052828 Fixing BQSR GATK docs 2012-08-01 13:17:16 -04:00
Eric Banks 459832ee16 Fixed bug in FastaAlternateReferenceMaker when input VCF has overlapping deletions as reported a while back on GS 2012-08-01 10:45:04 -04:00
Eric Banks a4a41458ef Update docs of FastaAlternateReferenceMaker as promised in older GS thread 2012-08-01 10:33:41 -04:00
Eric Banks 38e5419b11 Merged bug fix from Stable into Unstable 2012-08-01 09:50:31 -04:00
Eric Banks 56f8afab97 Requested by Geraldine: adding a utility to register deprecated walkers (and the major version of the first release since they were removed) so that the User Error printed out for e.g. CountCovariates now states: Walker CountCovariates is no longer available in the GATK; it has been deprecated since version 2.0. 2012-08-01 09:50:00 -04:00
Guillermo del Angel 0528337467 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-31 18:17:50 -04:00
Guillermo del Angel 4a23f3cd11 Simple cleanup of pool caller code - since usage is much more general than just calling pools, AF calculation models and GL calculation models are renamed from Pool -> GeneralPloidy. Also, don't have users specify special arguments for -glm and -pnrm. Instead, when running UG with sample ploidy != 2, the correct general ploidy modules are automatically detected and loaded. -glm now reverts to old [SNP|INDEL|BOTH] usage 2012-07-31 16:34:20 -04:00
Eric Banks 6cb10cef96 Fixed older GS reported bug. Actually, the problem really lies in Picard (can't set max records in RAM without it throwing an exception, reported on their JIRA) so I just masked out the problem by removing this never-used argument from this rarely-used tool. 2012-07-31 16:00:36 -04:00
Eric Banks ab53d73459 Quick fix to user error catching 2012-07-31 15:50:32 -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 dad9bb1192 Changes order of writing BaseRecalibrator results so that if R blows up you still get a meaningful tree 2012-07-31 08:11:04 -04:00
Mark DePristo 0c4e729e13 Working version of adaptive context calculations
-- Uses chi2 test for independences to determine if subcontext is worth representing.   Give excellent visual results
-- Writes out analysis output file producing excellent results in R
-- Trivial reformatting of MathUtils
2012-07-31 08:11:04 -04:00
Mark DePristo 93640b382e Preliminary version of adaptive context covariate algorithm
-- Works according to visual inspection of output tree
2012-07-31 08:11:04 -04:00
Mark DePristo 315d25409f Improvement to RecalDatum and VisualizeContextTree
-- Reorganize functions in RecalDatum so that error rate can be computed indepentently.  Added unit tests.  Removed equals() method, which is a buggy without it's associated implementation for hashcode
-- New class RecalDatumTree based on QualIntervals that inherits from RecalDatum but includes the concept of sub data
-- VisualizeContextTree now uses RecalDatumTree and can trivially compute the penalty function for merging nodes, which it displays in the graph
2012-07-31 08:11:04 -04:00
Mark DePristo 57b45bfb1e Extensive unit tests, contacts, and documentation for RecalDatum 2012-07-31 08:11:03 -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
Mark DePristo 191294eedc Initial cleanup of RecalDatum for move and further refactoring
-- Moved Datum, the now unnecessary superclass, into RecalDatum
-- Fixed some obviously dangerous synchronization errors in RecalDatum, though these may not have caused problems because they may not have been called in parallel mode
2012-07-31 08:11:03 -04:00
Mark DePristo 0670316288 Be clearer that dcov 50 is good for 4x, should use 200 for >30x 2012-07-31 08:11:02 -04:00
Mark DePristo 874dbf5b58 Maximum wait for GATK run report upload reduced to 10 seconds 2012-07-31 08:11:02 -04:00
Ryan Poplin 7ed06ee7b9 Updating FindCoveredIntervals to use the changes to the ActiveRegionWalker. 2012-07-30 12:16:27 -04:00
Ryan Poplin 13591b169f Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-30 12:13:24 -04:00
Eric Banks 0b30588d67 Catch yet another class of User Errors 2012-07-30 11:59:56 -04:00
Eric Banks 5743694196 Merged bug fix from Stable into Unstable 2012-07-30 11:35:28 -04:00
Eric Banks 79195b97a3 Adding categories for the remaining uncategorized walkers 2012-07-30 11:35:08 -04:00
Eric Banks 2b1b00ade5 All integration tests and VC/Allele unit tests are passing 2012-07-27 17:03:49 -04:00
Eric Banks beb7610195 Resolving merge conflicts 2012-07-27 15:52:02 -04:00
Eric Banks 27e7e11ec0 Allele refactoring checkpoint #3: all integration tests except for PoolCaller are passing now. Fixed a couple of bugs from old code that popped up during md5 difference review. Added VariantContextUtils.requiresPaddingBase() method for tools that create alleles to use for determining whether or not to add the ref padding base. One of the HaplotypeCaller tests wasn't passing because of RankSumTest differences, so I added a TODO for Ryan to look into this. 2012-07-27 15:48:40 -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
Ryan Poplin a0890126a8 ActiveRegionWalker's isActive function returns a results object now instead of just a double. 2012-07-27 11:01:39 -04:00
Eric Banks ef335b6213 Several more walkers have been brought up to use the new Allele representation. 2012-07-27 02:14:25 -04:00
Eric Banks 9e2209694a Re-enable reverse trimming of alleles in UG engine when sub-selecting alleles after genotyping. UG integration tests now pass. 2012-07-27 00:47:15 -04:00
Eric Banks baf3e33730 Allele refactoring checkpoint 2: all code finally compiles, AD and STR annotations are fixed, and most of the UG integration tests pass. 2012-07-26 23:27:11 -04:00
Ryan Poplin 35e803e110 Merged bug fix from Stable into Unstable 2012-07-26 14:00:04 -04:00
Ryan Poplin 4f741b4cd7 Smoothing in the BQSR bins should be one error observation and one non-error observation. 2012-07-26 13:59:02 -04:00
Guillermo del Angel 2ae890155c Improvements to indel calling in pool caller: a) Compute per-read likelihoods in reference sample to determine wheter a read is informative or not. b) Fixed bugs in unit tests. c) Fixed padding-related bugs when computing matches/mismatches in ErrorModel, d) Added a couple of more integration tests to increase test coverage, including testing odd ploidy 2012-07-26 13:43:00 -04:00
Eric Banks a694d1b5de Merge branch 'master' into allelePadding 2012-07-26 01:53:14 -04:00
Eric Banks 32516a2f60 Initial checkpoint commit of VariantContext/Allele refactoring. There were just too many problems associated with the different representation of alleles in VCF (padded) vs. VariantContext (unpadded). We are moving VC to use the VCF representation. No more reference base for indels in VC and no more trimming and padding of alleles. Even reverse trimming has been stopped (the theory being that writers of VCF now know what they are doing and often want the reverse padding if they put it there; this has been requested on GetSatisfaction). Code compiles but presumably pretty much all tests with indels with fail at this point. 2012-07-26 01:50:39 -04:00
Mark DePristo 8c418a15da Sorting out HMS error handling (fingers crossed)
-- Check if a traversal error occurred in the last shard
-- Catch ExecutionException from the TreeReducer and throw as our HMS execption
-- ShardTraverser just throws the exception as formatted by the HMS, rather than wrapping it as a RuntimeException itself
-- EngineFeaturesIntegrationTests now uses public exampleFASTA (faster), and does 1000x iterations (slower)
2012-07-25 23:13:12 -04:00
Mark DePristo 9242f63a4d On the way to really sorting out HMS error handling
-- Better error message when a traveral error occurs (a real bug)
-- EngineFeaturesIntegrationTest runs the multi-threaded error testing routines 50x times
-- A bit of cleanup in WalkerTest
2012-07-25 22:11:10 -04:00
Eric Banks 7eb3f54750 Added category docs for the remaining public walkers (I think I got them all). I removed a couple of totally unnecessary walkers. 2012-07-25 21:40:28 -04:00
Eric Banks 2982b24c4b Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/stable 2012-07-25 20:36:53 -04:00
Eric Banks 0a98a6aa8d Adding extraDocs tag per Mauricio's request 2012-07-25 18:23:18 -04:00
Mauricio Carneiro fce5cb9f35 Few category changes 2012-07-25 17:23:02 -04:00
Eric Banks 05fa377a8e Adding GATK categories to standard walkers. Will add to remaining walkers after the next successful release (so that I can see which walkers are public and still need it). 2012-07-25 16:05:47 -04:00
Mauricio Carneiro d46cf47bd1 Updating Read Filter documentation 2012-07-25 15:05:47 -04:00
Eric Banks 6a3bfa3811 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/stable 2012-07-25 14:11:11 -04:00
Eric Banks 357e0b35af Register GATK-full-only walkers and rethrow the missing walker error as a not supported in GATK lite error 2012-07-25 14:11:03 -04:00
Roger Zurawicki 5b74763096 Removed Categories.
We will use DocumentedGATKFeatures to create categories in our documentation. Eric I guess will be in charge of this. We need to remove walkers and think how to categorize everything.

Tools can be hidden from GATKdocs with the @Hidden annotation

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-07-25 13:46:24 -04:00
Eric Banks a5721a8846 Context covariate optimizations were not suited for multiple threads, so I removed them (since that ended up being much, much easier than trying to make the covariates thread local). Added -nt 2 layer to BQSR integration tests to confirm that it now works with multiple threads. 2012-07-25 13:38:07 -04:00
Eric Banks e0c07f5567 Reverting old commits that made error handling better because ultimately they made things worse. 2012-07-25 12:37:59 -04:00
Mark DePristo fcefa61bce Remove reference dependence in BCF2Codec
-- Adding BCF2Codec to VCF.jar and associated unit tests

Signed-off-by: Mark DePristo <depristo@broadinstitute.org>
2012-07-25 08:56:38 -04:00
Mark DePristo 19a257a5c1 Multiple bugfixes
-- VariantFiltration now properly sets passFilters in VC
-- BCF2 writer now properly decodes lazy BCF genotype data that it uses.  Improper use generated a horrible subtle bug but the good news is that the extra checks I put in (unnecessarily a few days ago) caught the bug!

Signed-off-by: Mark DePristo <depristo@broadinstitute.org>
2012-07-25 08:56:38 -04:00
Mark DePristo 3066894215 Bugfix for BCF2
-- Always decode genotypes block when writing out a BCF file.  If the header changes (and we currently don't know this easily) then the dictionary keys used in the genotypes block may be invalid.  Temporarily added a private static boolean that turns off writing of the blocks until Eric and his team rewrite the header.

Signed-off-by: Mark DePristo <depristo@broadinstitute.org>
2012-07-25 08:56:38 -04:00
Guillermo del Angel eb55061fd0 a) Document BEAGLE codec, b) Bug fix: inbreeding coefficient shouldn't be computed for non-diploid organisms in current implementaiton 2012-07-24 12:16:15 -04:00
Mauricio Carneiro 348e86159e Moving doclets to public 2012-07-23 23:52:14 -04:00
Mauricio Carneiro 5cd98a36b9 Making ForumAPIUtils public 2012-07-23 17:44:24 -04:00
Mauricio Carneiro 3d92f041f3 forgot to delete the merging line 2012-07-23 17:35:07 -04:00
Roger Zurawicki f3c504769b Added the ability to update the Forum
GATKDocs looks for a key on gsa4, and updates the forum with new walker if it exists.
More changes were made to the GATKDocs. Works nicely with bootstrap on and offline.
Cleaned up the code as well

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-07-23 17:17:33 -04:00
Khalid Shakir 46ca49b63d Removed 'Walker' suffix from packages/GATKEngine.xml that were breaking the packaged release.
Archived AnalyzeCovariates scripts and removed references in build packages / GATK extensions.
2012-07-23 16:32:31 -04:00
Ryan Poplin 2a14bbe4f0 Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-23 11:28:26 -04:00
Ryan Poplin 10d143c35c Adding error model header names in the BQSR recal plot. Making the downsampling of points look a little nicer. 2012-07-23 11:28:17 -04:00
Eric Banks 675ccab2fa Renaming BQSR to BaseRecalibrator 2012-07-23 10:17:17 -04:00
Ryan Poplin 2e486d83e2 Updating HaplotypeCaller docs and expanding integration tests. 2012-07-23 10:05:42 -04:00
Mauricio Carneiro 921eaad33f Generalized the default platform parameter in BQSRv2
Parameter wasn't working outside of the BQSR walker. It now takes the information on the recalibration report in other tools (PrintReads for example) and treats all reads as coming from the defined default platform.
2012-07-20 17:29:13 -04:00
Mauricio Carneiro 5dc2143142 Removed support for walkers ending with "Walker" from the engine.
If your walker has "Walker" in the name, you will have to use "Walker" on the -T to access it.
2012-07-20 17:27:11 -04:00
Mauricio Carneiro d446d34227 GATK Error messages now point to the new website instead of GetSatisfaction. 2012-07-20 17:27:11 -04:00
Mauricio Carneiro 116885a450 Removed the "Walker" suffix from all walkers that had it.
* Did not touch archived walkers... those can be named whatever.
   * Kept abstract classes that end in Walker untouched (e.g. LocusWalker, ReadWalker, ...)
   * Renamed a few inner classes due to conflict when stripping off Walker from their outer classes: ContigStats, FlagStats and FastaStats.
2012-07-20 17:27:11 -04:00
Christopher Hartl 3ee46cced2 Merge branch 'master' of ssh://gsa1.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-19 21:25:40 -04:00
Christopher Hartl af383c30b5 Ensure that the gene summary has a header line 2012-07-19 21:24:04 -04:00
Mark DePristo 2ca5fc62a2 Support for MISSING BCF2 type
-- Heng wants to use 0x0? to represent any missing type value, which in our implementation was invalid.  Updated our codebase to support this construct.  Heng said he'll update the BCF2 quick reference.
-- Enabled integration test reading Heng's ex2.bcf file
-- GATK now only warns in the case where the END info field isn't the same (or +1 due to padding) as the getEnd() function as determined by the GATK.  Turns out there's a single record in the 1000G SV call set that doesn't have the right length
-- VariantContextTestProvider now tests that X = Y where X -> writing -> reading -> writing -> reading = Y for a variety of variant context inputs X
-- Added integration test reading 1000G SV chr1 calls (from Chris)
2012-07-19 16:14:26 -04:00
Guillermo del Angel c16f9f2f15 a) Use new method to check for GATK Like, b) minor improvements to indel pool caller (more to come): brain-dead, quick way to limit number of alt alleles to genotype. We can't process too many alt alleles because of the combinatorial explosion of GL values with high ploidy, and some STR validation targets had up to 12 alt alleles, resulting of GL vectors of > 1e8 elements. Can't use pileup elements since typically not many alleles will be in one pileup, and different alleles will appear in different samples, TBD a nicer solution. c) Commit to posterity scala script for large scale validation calling, still work in progress 2012-07-19 10:24:08 -04:00
Eric Banks e370030e6c As requested by Mark, I've broken out the code to pull out the protected subclass when available (and otherwise use the public version) into the GATKLiteUtils class. People should use this code instead of reimplementing all of the java reflection on their own. 2012-07-18 22:44:37 -04:00
Eric Banks d46ccec04e Adding Unit Tests to cover the exception catching for Picard errors: because we are using String matching, we want to ensure that we know if/when the exception text changes underneath us. 2012-07-18 21:48:58 -04:00
Mark DePristo 74e153ff4a FisherStrand now uses RankSumTest isUsableBase to decide if a read should be included in testing
-- Previously used hardcoded MAPQ > 20 && QUAL > 20 but now uses isUsableBase
-- Updating MD5s as appropriate
2012-07-18 16:07:47 -04:00
Mark DePristo dede3a30e9 Improvements to the validation report of VariantEval
-- If eval has genotypes and comp has genotypes, then subset the genotypes of comp down to the samples being evaluated when considering TP, FP, FN, TN status.  This is important in the case where you want to use this to assess, for example, the quality of calls on NA12878 but you have a CEU trio comp VCF.  The previous version was counting sites polymorphic in mom against the calls in NA12878.
-- Added testdata VCF and integrationtests to ensure this behavior continues in the future
-- TODO: actually run integration tests when I have an internet connection
2012-07-18 16:07:47 -04:00
Mark DePristo 559a4826be Improvements to the validation report of VariantEval
-- If eval has genotypes and comp has genotypes, then subset the genotypes of comp down to the samples being evaluated when considering TP, FP, FN, TN status.  This is important in the case where you want to use this to assess, for example, the quality of calls on NA12878 but you have a CEU trio comp VCF.  The previous version was counting sites polymorphic in mom against the calls in NA12878.
-- Added testdata VCF and integrationtests to ensure this behavior continues in the future
2012-07-18 16:07:46 -04:00
Mark DePristo dc292c0317 FisherStrand now includes all reads and bases, regardless of mapping quality and base quality, just like other annotations
-- This actually proved to be a problem with Ion Torrent data where the base quality can be quite low, and so we need to include Q15 bases for calling effectively.
2012-07-18 16:07:46 -04:00
Eric Banks 2c0f073ab1 Make -qq arg hidden for now since it's still very experimental 2012-07-18 15:43:25 -04:00
Eric Banks b46c85e8b4 More bad BAM file catching 2012-07-18 15:26:31 -04:00
Eric Banks 659eee13a6 Handle NPE generated in UG when non-standard reference bases are present in the fasta 2012-07-18 15:16:27 -04:00
Eric Banks 9af2cfe283 Catch underlying file system problems that get masked as Tribble index errors. There's also a quick patch to the HMS that isn't really the ultimate fix needed; Mark and I will review at a later point. 2012-07-18 15:11:38 -04:00
Eric Banks 4c730542f0 Handle RuntimeExceptions thrown by Picard that are really User Errors. I will add unit tests for these as best I can later. 2012-07-18 13:56:35 -04:00
Eric Banks ae08d35138 Catch 'too many open files' errors that show up when trying to read the bam index. All that needs to be done is to flesh out the original error message (because it will get caught later and rethrown correctly). 2012-07-18 12:57:34 -04:00
Eric Banks f2fe59a9d4 Wow, there are a ton of errors captured having to do with being unable to merge the temp Tribble output. I'm expanding the error message a bit to help see if we can do anything going forward. 2012-07-18 12:31:59 -04:00
Eric Banks e4db8dde91 Enabled a whole other bunch of integration tests for BQSRv2. While I was there I also changed the default context size for indels to 3 (from 8) since that's what works best in the current implementation (as suggested by Ryan). At this point, all of the new core tools (ReduceReads, BQSRv2, HaplotypeCaller, UG extensions) have been moved over to protected and should be stable. Looks like we are pretty much ready for GATK 2.0! 2012-07-17 23:36:43 -04:00
Eric Banks a8d08ea18d As a user pointed out, it is not valid for a GenomeLoc to have a start or stop equal to 0. 2012-07-17 22:18:43 -04:00
Guillermo del Angel 29273abab7 Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-07-17 16:58:12 -04:00