Commit Graph

1359 Commits (07f9d14d9fd451a136e761c8d7ee10b60996c2c7)

Author SHA1 Message Date
Eric Banks 044f211a30 Don't collapse likelihoods over all alt alleles - that's just not right. For now, the QUAL is calculated for just the most likely of the alt alleles; I need to think about the right way to handle this properly. 2011-12-10 23:57:14 -05:00
Eric Banks 364f1a030b Plumbing added so that the UG engine can handle multiple alleles and they can successfully be genotyped. Alleles that aren't likely are not allowed to be used when assigning genotypes, but otherwise the greedy PL-based approach is what is used. Moved assign genotypes code to UG engine since it has nothing to do with the Exact model. Still have some TODOs in here before I can push this out to everyone. 2011-12-09 14:25:28 -05:00
Mauricio Carneiro 8475328b2c Turning off test that breaks read clipper
until we define what is the desired behavior for clipping this particular case.
2011-12-09 11:53:12 -05:00
Roger Zurawicki 4cbd1f0dec Reorganized the testing code and created ClipReadsTestUtils
Tests are more rigorous and includes many more test cases.
We can tests custom cigars and the generated cigars.
     *Still needs debugging because code is not working.
Created test classes to be used across several tests.

Some cases are still commented out.

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2011-12-09 11:52:34 -05:00
Roger Zurawicki 0e9c2cefa2 testHardClipSoftClippedBases works with Matches and Deletions
Insertions are a problem so cigar cases with "I" are commented out.
The test works with multiple deletions and matches.

This is still not a complete test. A lot of cigar test cases are commented out.

Added insertions to ReadClipperUnitTest

ReadClipper now tests for all indels.

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2011-12-09 11:43:37 -05:00
Eric Banks 64dad13e2d Don't carry around an extra copy of the code for the Haplotype Caller 2011-12-09 11:09:40 -05:00
Eric Banks 442ceb6ad9 The Exact model now computes both the likelihoods and posteriors (in separate arrays); likelihoods are used for assigning genotypes, not the posteriors. 2011-12-09 10:16:44 -05:00
Laurent Francioli a79144f7db Merge branch 'master' of ssh://copper.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-12-09 15:57:24 +01:00
Laurent Francioli 72fbfba97d Added UnitTests for getFamilies() and getChildrenWithParents() 2011-12-09 15:57:07 +01:00
Laurent Francioli 5a06170804 Corrected bug causing getChildrenWithParents() to not take the last family member into consideration. 2011-12-09 14:51:34 +01:00
Eric Banks aa4a8c5303 No dynamic programming solution for assignning genotypes; just done greedily now. Fixed QualByDepth to skip no-call genotypes. No-calls are no longer given annotations (attributes). 2011-12-09 02:25:06 -05:00
Eric Banks 2fe50c64da Updating md5s 2011-12-09 00:47:01 -05:00
Eric Banks 8777288a9f Don't throw a UserException if too many alt alleles are trying to be genotyped. Instead, I've added an argument that allows the user to set the max number of alt alleles to genotype and the UG warns and skips any sites with more than that number. 2011-12-09 00:00:20 -05:00
Eric Banks 3e7714629f Scrapped the whole idea of an int/long as an index into the ACset: with lots of alternate alleles we run into overflow issues. Instead, simply use the ACcounts array as the hash key since it is unique for each AC conformation. To do this, it needed to be wrapped inside an object so hashcode() would work. 2011-12-08 23:50:54 -05:00
Eric Banks 4aebe99445 Need to use longs for the set index (because we can run out of ints when there are too many alternate alleles). Integration tests now use the multiallelic implementation. 2011-12-08 15:31:02 -05:00
Eric Banks 7750bafb12 Fixed bug where last dependent set index wasn't properly being transferred for sites with many alleles. Adding debugging output. 2011-12-08 13:50:50 -05:00
Guillermo del Angel 252e0f3d0a Merged bug fix from Stable into Unstable 2011-12-08 13:11:39 -05:00
Guillermo del Angel 1bfe28067f Don't try to genotype an indel even bigger than the reference window size, or else we'll be out of bounds. Necessary to handle Phase 1 integrated callset with large deletions. Better error indication when validating a GenomeLoc. 2011-12-08 12:54:08 -05:00
Mark DePristo 9def841275 Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-12-07 13:36:16 -05:00
Mark DePristo 4055877708 Prints 0.0 TiTv not NaN when there are no variants
-- Updated md5
2011-12-07 12:07:54 -05:00
Matt Hanna 15533e08df Fixed issue with RODWalker parallelization.
Turns out that someone previously upped the declared size of a ROD shard to 100M bases, making
each ROD shard larger than the size of chr20.  Why didn't we see this in Stable?  Because the
ShardStrategy/ShardStrategyFactory mechanism was dutifully ignoring the shard size specification.
When I rolled the ShardStrategy/ShardStrategyFactory mechanics back into the DataSources as part
of the async I/O project, I inadvertently reenabled this specifier.
2011-12-07 11:55:42 -05:00
Mark DePristo 5d2212bc8e Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-12-07 09:03:17 -05:00
Mark DePristo 6bf18899df Fix for variant summary -- now treats all 50 bp deletions or insertions as CNVs 2011-12-07 09:02:49 -05:00
Matt Hanna c9b2cd8ba5 Fix for chartl's stale null representation issue. 2011-12-06 18:05:17 -05:00
Eric Banks 79d18dc078 Fixing indexing bug on the ACsets. Added unit tests for the Exact model code. 2011-12-06 16:17:18 -05:00
Matt Hanna f5b977fc88 Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-12-06 10:11:35 -05:00
Matt Hanna 4001c22a11 Better file count / buffering variation in test suite. Parameterized read shard buffering. Misc cleanup. 2011-12-06 10:10:38 -05:00
Khalid Shakir 677bea0abd Right aligning GATKReport numeric columns and updated MD5s in tests.
PreQC parses file with spaces in sample names by using tabs only.
PostQC allows passing the file names for the evals so that flanks can be evaled.
BaseTest's network temp dir now adds the user name to the path so files aren't created in the root.
HybridSelectionPipeline:
- Updated to latest versions of reference data.
- Refactored Picard parsing code replacing YAML.
2011-12-05 23:22:15 -05:00
Eric Banks 7a0f6feda4 Make sure that too many alternate alleles aren't being passed to the genotyper (10 for now) and exit with a UserError if there are. 2011-12-05 16:18:52 -05:00
Eric Banks 7fac4afab3 Fixed priors (now initialized upon engine startup in a multi-dimensional array) and cell coefficients (properly handles the generalized closed form representation for multiple alleles). 2011-12-05 15:57:25 -05:00
Eric Banks a7cb941417 The posteriors vector is now 2 dimensional so that it supports multiple alleles (although the UG is still hard-coded to use only array[0] for now); the exact model now collapses probabilities for all conformations over a given AC into the posteriors array (in the appropriate dimension). Fixed a bug where the priors and posteriors were being passed in swapped. 2011-12-04 13:02:53 -05:00
Eric Banks eab2b76c9b Added loads of comments for future reference 2011-12-03 23:54:42 -05:00
Eric Banks 29662be3d7 Fixed bug where k=2N case wasn't properly being computed. Added optimization for BB genotype case not in old model. At this point, integration tests pass except for 1 case where QUALs differ by 0.01 (this is okay because I occasionally need to compute extra cells in the matrix which affects the approximations) and 2 cases where multi-allelic indels are being genotyped (some work still needs to be done to support them). 2011-12-03 23:12:04 -05:00
Eric Banks 71f793b71b First partially working version of the multi-allelic version of the Exact AF calculation 2011-12-02 14:13:14 -05:00
David Roazen d014c7faf9 Queue now properly escapes all shell arguments in generated shell scripts
This has implications for both Qscript authors and CommandLineFunction authors.

Qscript authors:
You no longer need to (and in fact must not) manually escape String values to
avoid interpretation by the shell when setting up Walker parameters. Queue will
safely escape all of your Strings for you so that they'll be interpreted literally. Eg.,

Old way:
filterSNPs.filterExpression = List("\"QD<2.0\"", "\"MQ<40.0\"", "\"HaplotypeScore>13.0\"")

New way:
filterSNPs.filterExpression = List("QD<2.0", "MQ<40.0", "HaplotypeScore>13.0")

CommandLineFunction authors:
If you're writing a one-off CommandLineFunction in a Qscript and don't really
care about quoting issues, just keep doing things the direct, simple way:

def commandLine = "cat %s | grep -v \"#\" > %s".format(files, out)

If you're writing a CommandLineFunction that will become part of Queue and
will be used by other QScripts, however, it's advisable to do things the
newer, safer way, ie.:

When you construct your commandLine, you should do so ONLY using the API methods
required(), optional(), conditional(), and repeat(). These will manage quoting
and whitespace separation for you, so you shouldn't insert quotes/extraneous
whitespace in your Strings. By default you get both (quoting and whitespace
separation), but you can disable either of these via parameters. Eg.,

override def commandLine = super.commandLine +
                           required("eff") +
                           conditional(verbose, "-v") +
                           optional("-c", config) +
                           required("-i", "vcf") +
                           required("-o", "vcf") +
                           required(genomeVersion) +
                           required(inVcf) +
                           required(">", escape=false) +  // This will be shell-interpreted
                           required(outVcf)

I've ported the Picard/Samtools/SnpEff CommandLineFunction classes to the new
system, so you'll get free shell escaping when you use those in Qscripts just
like with walkers.
2011-12-01 18:13:44 -05:00
Mark DePristo 3060a4a15e Support for list of known CNVs in VariantEval
-- VariantSummary now includes novelty of CNVs by reciprocal overlap detection using the standard variant eval -knownCNVs argument
-- Genericizes loading for intervals into interval tree by chromosome
-- GenomeLoc methods for reciprocal overlap detection, with unit tests
2011-11-30 17:05:16 -05:00
Matt Hanna b65db6a854 First draft of a test script for I/O performance with the new asynchronous I/O processing.
Also includes convenience parameters for specifying the IO/CPU threading balance outside of a tag.  Will be killed when
Queue gets better support for tagged arguments (hopefully soon).
2011-11-30 13:13:16 -05:00
Laurent Francioli 1d5d200790 Cleaned up unused import statements 2011-11-30 15:30:30 +01:00
Mark DePristo 28b286ad39 Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-11-30 09:11:53 -05:00
Laurent Francioli 20bffe0430 Adapted for the new version of MendelianViolation 2011-11-30 14:46:38 +01:00
Laurent Francioli 1cb5e9e149 Removed outdated (and unused) -familyStr commandline argument 2011-11-30 14:45:04 +01:00
Laurent Francioli 9574be0394 Updated MendelianViolationEvaluator integration test 2011-11-30 14:44:15 +01:00
Laurent Francioli f49dc5c067 Added functionality to get all children that have both parents (useful when trios are needed) 2011-11-30 14:43:37 +01:00
Laurent Francioli a4606f9cfe Merge branch 'MendelianViolation'
Conflicts:
	public/java/src/org/broadinstitute/sting/utils/MendelianViolation.java
2011-11-30 11:13:15 +01:00
Laurent Francioli b279ae4ead Merge branch 'master' of ssh://copper.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-11-30 10:10:21 +01:00
Laurent Francioli 7d58db626e Added MendelianViolationEvaluator integration test 2011-11-30 10:09:20 +01:00
Ryan Poplin 91413cf0d9 Merged bug fix from Stable into Unstable 2011-11-29 14:01:23 -05:00
Ryan Poplin cb284eebde Further updating VQSR tutorial wiki docs to reflect the bundle 2011-11-29 14:00:57 -05:00
Ryan Poplin dcb889665d Merged bug fix from Stable into Unstable 2011-11-29 09:58:49 -05:00
Ryan Poplin 447e9bff9e Updating VQSR tutorial wiki docs to reflect the bundle 2011-11-29 09:57:45 -05:00
Ryan Poplin 110298322c Adding Transmission Disequilibrium Test annotation to VariantAnnotator and integration test to test it. 2011-11-29 09:29:18 -05:00
Laurent Francioli ab67011791 Corrected bug introduced in the last update and causing no families to be returned by getFamilies in case the samples were not specified 2011-11-29 11:18:15 +01:00
Eric Banks d7d8b8e380 Tribble v42 changes the Codec.canDecode method to take in a String instead of a File; this is something that Jim was adamant about (because Tribble can handle streams other than files). I didn't want the next person who needed to rev Tribble to deal with this change additionally, so I took care of updating the GATK now. 2011-11-28 14:18:28 -05:00
Laurent Francioli a09c01fcec Removed walker argument FamilyStructure as this is now supported by the engine (ped file) 2011-11-28 17:18:11 +01:00
Laurent Francioli 795c99d693 Adapted MendelianViolation to the new ped family representation. Adapted all classes using MendelianViolation too.
MendelianViolationEvaluator was added a number of useful metrics on allele transmission and MVs
2011-11-28 17:13:14 +01:00
Laurent Francioli e877db8f42 Changed visibility of getSampleDB from protected to public as the sampleDB needs to be accessible from Annotators and Evaluators too. 2011-11-28 17:11:30 +01:00
Laurent Francioli 5c2595701c Added a function to get families only for a given list of samples. 2011-11-28 17:10:33 +01:00
Mark DePristo 3c36428a20 Bug fix for TiTv calculation -- shouldn't be rounding 2011-11-28 10:20:34 -05:00
Eric Banks 436b4dc855 Updated docs 2011-11-28 08:59:48 -05:00
Laurent Francioli b1dd632d5d Merge branch 'master' of ssh://copper.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
Conflicts:
	public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmission.java
2011-11-25 16:16:44 +01:00
Mark DePristo e60272975a Fix for changed MD5 in streaming VCF test 2011-11-23 19:01:33 -05:00
Mark DePristo 12f09d88f9 Removing references to SimpleMetricsByAC 2011-11-23 16:08:18 -05:00
Mark DePristo e319079c32 Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-11-23 13:02:11 -05:00
Mark DePristo 4107636144 VariantEval updates
-- Performance optimizations
-- Tables now are cleanly formatted (floats are %.2f printed)
-- VariantSummary is a standard report now
-- Removed CompEvalGenotypes (it didn't do anything)
-- Deleted unused classes in GenotypeConcordance
-- Updates integration tests as appropriate
2011-11-23 13:02:07 -05:00
David Roazen e5b85f0a78 A toString() method for IntervalBindings
Necessary since we're currently writing things like this to our VCF headers:
intervals=[org.broadinstitute.sting.commandline.IntervalBinding@4ce66f56]
2011-11-23 11:56:12 -05:00
Mark DePristo 5a4856b82e GATKReports now support a format field per column
-- You can tell the table to format your object with "%.2f" for example.
2011-11-23 11:31:04 -05:00
Mark DePristo c8bf7d2099 Check for null comment 2011-11-23 10:47:21 -05:00
Mark DePristo 6c2555885c Caching getSimpleName() in VariantEval is a big performance improvement
-- Removed the SimpleMetricsByAC table, as one should just use the AlleleCount Stratefication and the upcoming VariantSummary table
2011-11-23 08:34:05 -05:00
Guillermo del Angel 32adbd614f Solve merge conflict 2011-11-22 22:48:46 -05:00
Guillermo del Angel 941f3784dc Solve merge conflict 2011-11-22 22:48:03 -05:00
Guillermo del Angel 75d93e6335 Another corner condition fix: skip likelihood computation in case we cut so many bases there's no haplotype or read left 2011-11-22 22:46:12 -05:00
Mark DePristo a3aef8fa53 Final performance optimization for GenotypesContext 2011-11-22 17:19:30 -05:00
Mark DePristo 990c02e4de Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-11-22 17:19:11 -05:00
Guillermo del Angel 38a90da92c Fixed merge conflict to Unstable 2011-11-22 14:39:45 -05:00
Guillermo del Angel 32a77a8a56 Prevent out of bound error in case read span > reference context + indel length. Can happen in RNAseq reads with long N CIGAR operators in the middle. 2011-11-22 13:57:24 -05:00
Eric Banks 5821c11fad For BAM and Reviewed errors we now check the error message to see if it's actually a 'too many open files' problem and, if so, we generate a User Error instead. 2011-11-22 10:50:22 -05:00
Mark DePristo 7087310373 Embarassing bug fixed 2011-11-22 10:16:36 -05:00
Mark DePristo e484625594 GenotypesContext now updates cached data for add, set, replace operations when possible
-- Involved separately managing the sample -> offset and sample sorted list operations.  This should improve performance throughout the system
2011-11-22 08:40:48 -05:00
Mark DePristo 29ca24694a UG now encoding NO_CALLs as ./. not ./.:.:4:0,0,0
A few updated UGs integration tests
2011-11-22 08:22:32 -05:00
Mark DePristo 2b51c01df4 Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-11-21 19:16:06 -05:00
Mark DePristo 5443d3634a Again, fixing the add call when we really mean replace
-- Updating MD5s for UG to reflect that what was previously called ./.:.:10:0,0,0 is now just ./.  Eric will fix long-standing bug in QD observed from this change
-- VFW MD5s restored to their old correct values.  There was a bug in my implementation to caused the genotypes to not be parsed from the lazy output even through the header was incorrect.
2011-11-21 19:15:56 -05:00
Mauricio Carneiro 5ad3dfcd62 BugFix: byte overflow in SyntheticRead compressed base counts
* fixed and added unit test
2011-11-21 17:11:50 -05:00
Mark DePristo 9ea7b70a02 Added decode method to LazyGenotypesContext
-- AbstractVCFCodec calls this if the samples are not sorted.  Previously called getGenotypes() which didn't actually trigger the decode
2011-11-21 16:21:23 -05:00
Mark DePristo ab2efe3bd3 Reverting bad exact model changes 2011-11-21 16:14:40 -05:00
Eric Banks 44554b2bfd Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-11-21 15:01:45 -05:00
Eric Banks 022832bd74 Very bad use of the == operator with Strings was ensuring that validating GenomeLocs was very inefficient. This fix resulted in a significant speedup for a simple RodWalker. 2011-11-21 14:49:47 -05:00
Mark DePristo 1561af22af Exact model code cleanup
-- Fixed up code when fixing a bug detected by aggressive contracts in GenotypesContext.
2011-11-21 14:35:15 -05:00
Mark DePristo 2c501364b8 GenotypesContext no longer have immutability in constructor
-- additional bug fixes throughout VariantContext and GenotypesContext objects
2011-11-21 14:34:31 -05:00
David Roazen 1296dd41be Removing the legacy -L "interval1;interval2" syntax
This syntax predates the ability to have multiple -L arguments, is
inconsistent with the syntax of all other GATK arguments, requires
quoting to avoid interpretation by the shell, and was causing
problems in Queue.

A UserException is now thrown if someone tries to use this syntax.
2011-11-21 13:18:53 -05:00
Mark DePristo e467b8e1ae More contracts on LazyGenotypesContext 2011-11-21 09:34:57 -05:00
Mark DePristo 2e9ecf639e Generalized interface to LazyGenotypesContext
-- Now you provide a LazyParsing object
-- LazyGenotypesContext now knows nothing about the VCF parser itself.  The parser holds all of the necessary data to parse the VCF genotypes when necessarily, and the LGC only has a pointer to this object
-- Using new interface added LazyGenotypesContext to unit tests with a simple lazy version
-- Deleted VCFParser interface, as it was no longer necessary
2011-11-21 09:30:40 -05:00
Mark DePristo f0ac588d32 Extensive unit test for GenotypeContextUnitTest
-- Currently only tests base class.  Adding subclass testing in a bit
2011-11-20 18:28:01 -05:00
Mark DePristo bc44f6fd9e Utility function Collection<Genotype> -> Collection<String> 2011-11-20 18:26:56 -05:00
Mark DePristo 9445326c6c Genotype is Comparable via sampleName 2011-11-20 18:26:27 -05:00
Mark DePristo f9e25081ab Completed documented LazyGenotypesContext 2011-11-20 08:35:52 -05:00
Mark DePristo 9cb3fe3a59 Vastly better way of doing on-demand genotyping loading
-- With our GenotypesContext class we can naturally create a LazyGenotypesContext subclass that does the on-demand loading.
-- This new class was replaced all of the old, complex functionality
-- Better still, there were many cases were the genotypes were being loaded unnecessarily, resulting in efficiency.  This was detected because some of the integration tests changed as the genotypes were no longer being parsing unnecessarily
-- Misc. bug fixes throughout the system
-- Bug fixes for PhaseByTransmission with new GenotypesContext
2011-11-20 08:23:09 -05:00
Mark DePristo f392d330c3 Proper use of builder. Previous conversion attempt was flawed 2011-11-19 22:09:56 -05:00
Mark DePristo 7d09c0064b Bug fixes and code cleanup throughout
-- chromosomeCounts now takes builder as well, cleaning up a lot of code throughout the codebase.
2011-11-19 18:40:15 -05:00
Mark DePristo 707bd30b3f Should have been @BeforeMethod 2011-11-19 16:10:09 -05:00
Mark DePristo 8f7eebbaaf Bugfix for pError not being checked correctly in CommonInfo
-- UnitTests to ensure correct behavior
-- UnitTests to ensure correct behavior for pass filters vs. failed filters vs. unfiltered
2011-11-19 15:58:59 -05:00