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3168 Commits (f39dce1082bf388c88ba16707ca555b00a84f405)

Author SHA1 Message Date
ebanks 07945040f8 Set VariantFiltration's JEXL engine to silent for warning messages 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3716 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-04 18:11:19 +00:00
ebanks be8740b00d Another edge case in left alignment for indels: deal with cases when insertions are ambiguously placed at ends of reads 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3715 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-04 17:26:38 +00:00
weisburd f7593435eb Implemented decodeLoc(..) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3713 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-02 21:01:36 +00:00
depristo cd2e4b0a1e merging now very close to working. Bug todo in writer and vcf infrastructure. Can almost create merged snp and indel files 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3712 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-02 20:09:25 +00:00
delangel b6bdd61283 a) Fix bug when multi-base reference is homopolymeric when writing a VCF4.0 variant context: computation of number of trailing bases was incorrect and we ended up with incorrect position. 
b) Updated VCF4WriterTestWalker to take either VCF3 or VCF4 as inputs (this walker can also be used to convert from 3.3 to 4.0).
 


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3711 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-02 15:19:42 +00:00
depristo 61e2b2e39b Nearly finalize merging capabilities for CombineVariants. Support for dealing with inconsistent indel alleles at loci. Improvements to Allele and removal of addAllele to MutableGenotype. We are close to being able to merge all of 1000 genomes -- snps and indels -- into a single combined vcf 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3710 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-02 13:32:33 +00:00
hanna cab8394103 The sharding system now buffers reads, with a size determined by command-line argument. Will investigate whether/how this 
impacts performance on low-pass data and, if it works well, will create a more automatic version of the tool.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3709 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 22:28:55 +00:00
aaron f967cae1aa tiny comment change 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3708 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 22:04:25 +00:00
aaron 3093a20a55 fixing VCF header format and info fields so that they propery emit the unbounded count value correctly for vcf4 or vcf3. Eric we should update the vcf4 spec page to indicate format fields are allowed to use the unbounded count as well (if this is true). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3707 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 22:02:16 +00:00
delangel 61c07c6f90 Fixes for missing key values that can create null pointer exceptions when reading from 3.3-generated variant contexts. Also, chop missing genotype fields correctly from right to left 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3706 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 20:17:03 +00:00
rpoplin 255b036fb5 Variant Recalibrator MLE EM algorithm is moved over to variational Bayes EM in order to eliminate problems with singularities when clustering in higher than two dimensions. Because of this there is no longer a number of Gaussians parameter. Wiki will be updated shortly with new recommended command. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3704 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 18:51:07 +00:00
aaron 4903d1fb4f fix for a parallelization issue: moving the creation of iterators outside of the sync block so we don't wait for RMD tracks to seek to the correct location. Thanks to Ben for providing the test case! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3703 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 16:37:02 +00:00
aaron 43ca595d15 VCF headers now can be set to a particular VCF version after creation, which converts the header lines to the appropriate encoding on output. Plus some clean-up of the code. 
Also commented out the Tribble index out-of-date tests, the timing seems to be troublesome from the farm.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3702 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 05:32:14 +00:00
hanna 4995950d04 IndexedFastaSequenceFile is now in Picard; transitioning to that implementation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3701 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 04:40:31 +00:00
hanna c9d5345150 Redo StratifiedAlignmentContext to use ReadBackedPileup's stratification options. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3699 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 02:46:05 +00:00
delangel dc4715c9c6 Permit empty fields in INFO and FORMAT structures - not fully tested yet but at least failing cases before now pass. Also, corrected a bug where in case we were reading 3.3 VCF's, or VCFs with no original allele encodings, we'd always print 2 bases per allele. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3698 348d0f76-0448-11de-a6fe-93d51630548a
 2010-07-01 01:56:07 +00:00
depristo 5f2b2d860e Final stage of renaming 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3696 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 21:39:07 +00:00
depristo 6e7927a47d Continuing the renaming nightmare... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3695 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 20:25:01 +00:00
depristo 9d7d5f1747 Continuing the renaming nightmare... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3694 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 20:24:27 +00:00
depristo aa20c52b88 deleting vcf 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3693 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 20:19:15 +00:00
depristo 4195fc5c4e renaming part 2... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3692 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 20:18:11 +00:00
depristo 6c9da5525d renaming starting 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3691 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 20:16:51 +00:00
depristo b8d6a95e7a Preliminary commit of new VCFCombine, soon to be called CombineVariants (next commit) that support merging any number of VCF files via a general VC merge routine that support prioritization and merging of samples! It's now possible to merge the pilot1/2/3 call sets into a single (monster) VCF taking genotypes from pilot2, then pilot3, then pilot1 as needed. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3690 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 20:13:03 +00:00
kshakir 178cf64a0c Refactored ArgumentDefinition to absorb functionality from ArgumentDefinition and ArgumentTypeDescriptor. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3688 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 18:37:58 +00:00
chartl 569456850d Mark pointed out there's differentiation in the filter field. Rolling back. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3687 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 17:05:53 +00:00
chartl 52a474b27d Fixed an issue with VCF combine in sites like the following: 
Broad: Filtered     BC: No call

These were being treated the same as

Broad: Call         BC: No call

Added some verbosity to separate them.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3686 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 16:49:31 +00:00
ebanks 944dbb94ce Refactored and generalized the database/comp annotations in VariantAnnotator. Now one can provide comp tracks as with VariantEval (e.g. compHapMap, comp1KG_CEU) and the INFO field will be annotated with the track name (without the 'comp') if the variant record overlaps a comp site (e.g. ...;1KG_CEU;...). This means that you can now pass 1kg calls to the Unified Genotyper and automatically have records annotated with their presence in 1kg. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3684 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 16:37:31 +00:00
ebanks 47c4a70ac1 It turns out that it is legitimately possible for there to be reads that won't overlap within a target interval for cleaning. While we don't want to attempt cleaning, we also don't want to fail. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3682 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 15:50:44 +00:00
ebanks ae33d8a2f2 I just wanted one more vote. It's settled: we die. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3681 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 14:00:56 +00:00
ebanks 8fb37f5f7a For Kiran: warn the user when the actual and vcf ref bases differ so that if an exception is generated later, he knows why. All: should we generate the actual exception here? Is there any reason to allow cases where the vcf record has a different ref base than the actual reference? I'd vote that we die here. Thoughts? 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3680 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 13:56:16 +00:00
delangel d932322190 More necessary fixes for VCF4.0 - now results look more sensible in realistic, bigger VCF files produced by say Dindel and not just the small test VCF: 
- Fixed and cleaned code to produce trailing and padding bases in alleles around indels.
- Deal better with missing fields.
Pending:
- Chopping missing fields at end of genotypes.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3679 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 02:59:30 +00:00
ebanks 12c0de6170 Added ability to clean using only known indels. Added integration test for it. Fixed vcf->vc conversion for indels which was busted. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3678 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-30 01:20:56 +00:00
chartl 610cc7ae2b Cool package trick Kiran showed me. VariantEvaluator no longer public, AAT specifies the core package even though it lives in oneoffs. Disabled so integration tests pass. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3677 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 22:42:04 +00:00
chartl 4c6f4e41c6 Include making VariantEvaluator public within the package so my oneoffs can be seen (not included in previous submit specifically because I didn't want to break the build by changing anything in core...the road to hell is paved with good intentions) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3676 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 22:26:52 +00:00
chartl 9ac13b8f5d Name and body change for this module to reflect local code. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3675 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 21:45:26 +00:00
aaron 844cb2ed33 fixing a bug that Eric found with RODs for reads, where some records could be omitted. Sorry Eric! 
Also putting more tolerance into the timing on the tibble index tests (that check to make sure we're deleting out of date indexes, and not deleting perfectly good indexes).  It seems that some of the farm nodes aren't great with a stopwatch.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3674 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 21:38:55 +00:00
chartl 101c27294d Comment this guy out so we build again. (Hate it when my repository goes all funky.) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3673 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 21:16:33 +00:00
chartl 3017f82550 Initial commit of items for analyzing amino acid transitions in variant eval. Blew up my subversion by coding locally while i did not have internet. I hope this doesn't bust any integrationtests since I changed no existing code but...who knows. Crossing my fingers. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3672 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 20:57:18 +00:00
delangel e3fb4d5c70 Intermediate checkin, just to fix null pointer exception that happened when merging implementation with latest VCF4 decoder - field ORIGINAL_ALLELE_LIST in vc shouldn't be written in infoFields structure since this won't be output to file and there is no legal structure under this key. 
Base encoding for complex events is still brittle and most probably still has issues, fixes upcoming.
 


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3671 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 20:57:09 +00:00
ebanks baf9479c35 An addition for Sendu since he can't seem to tell when his CountCovariate jobs die in the middle of writing the CSVs. We now write an EOF marker at the end of the covariates table and look for it when reading in the file in TableRecalibrationWalker. By default, we warn the user if the EOF marker isn't present, but we exception out if the user provides the --fail_with_no_eof_marker option. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3670 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 18:50:07 +00:00
delangel 3ca2b7374b Fixes to better deal with the "Type" and "Number" field in the INFO and FORMAT header lines in VCF4.0. We now record these fields and provide appropriate conversions. This is the first version that passes fully the VCF validator. 
Also, moved the flag indicating VCF4.0 to the VCFWriter constructor.

 


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3669 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 16:43:00 +00:00
ebanks 801b47c6e9 For Sendu: a similar addition to the Indel Genotyper allowing it to emit a metrics file (which for now consists only of # of normal/tumor calls made) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3668 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 13:19:17 +00:00
ebanks ddf87e61c2 For Sendu: optionally emit a metrics file with callability info (including number of actual calls made) from UG 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3667 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 12:57:28 +00:00
ebanks 929e5b9276 Fix possible null pointer exception 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3666 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 09:01:18 +00:00
hanna 2953c9f069 Efficiency improvement requested by the Picard team in IndexedFastaSequenceFile: improve the memory efficiency 
(and loading time) of long reference sequences by better controlling the input buffer size.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3665 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-29 07:22:07 +00:00
delangel ed71e53dd4 1) Initial complete version of VCF4 writer. There are still issues (see below) but at least this version is fully functional. It incorporates getting rid of intermediate VCFRecord so we now operate from VariantContext objects directly to VCF 4.0 output. 
See VCF4WriterTestWalker for usage example: it just amounts to adding
vcfWriter.add(vc,ref.getBases()) in walker.

add() method in VCFWriter is polymorphic and can also take a VCFRecord, lthough eventually this should be obsolete.
addRecord is still supported so all backward compatibility is maintained.

Resulting VCF4.0 are still not perfect, so additional changes are in progress. Specifically:
a) INFO codes of length 0 (e.g. HM, DB) are not emitted correctly (they should emit just "HM" but now they emit "HM=1").
b) Genotype values that are specified as Integer in header are ignored in type and are printed out as Doubles.

Both issues should be corrected with better header parsing.

2) Check in ability of Beagle to mask an additional percentage of genotype likelihoods (0 by default), for testing purposes.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3664 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 23:54:38 +00:00
ebanks 4a451949ba add parallel option to target creator for masking out reads with bad mates 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3663 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 22:13:25 +00:00
chartl 20f5fdbcf7 Changes to MVC to make the the header of its output VCF compliant with spec (give expected # of values for info field annotations) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3660 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 18:33:23 +00:00
aaron 62d22ff1aa adding the original allele list to a variant context (as the annotation ORIGINAL_ALLELE_LIST), in the case where the set alleles are the result of clipping. Added tests for both cases. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3658 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 17:23:46 +00:00
ebanks 1292c96e29 The cleaner now adds the OC (original cigar) and OS (original alignment start) tags as appropriate to reads that get realigned; this feature can be turned off. Also, improved integration tests (sorry, Kiran!). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3657 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 16:46:47 +00:00
asivache cc8d8eaedb Now that we always reserve space for two read ends when collecting stats stratified by libraries, we need to check that the second end was indeed present; otherwise the pointer is null and this was causing an exception 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3656 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 16:40:16 +00:00
ebanks 9a24598a98 By default, don't clean reads with mates mapped to other chromosomes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3654 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 15:14:20 +00:00
ebanks bf5cbad04c Make the target creator a rod walker (that allows reads) so that we can easily trigger the cleaner on only known indel sites. Adding an integration test to cover this case. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3651 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 13:28:37 +00:00
ebanks 464ac63a22 Allowing N's in ALT field 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3650 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 11:41:32 +00:00
hanna 3a9d426ca8 Added hasPileupBeenDownsampled() boolean to ReadBackedPileup, so that a pileup can report whether or not (but not how much) it's been downsampled. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3649 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-28 04:56:33 +00:00
depristo d6cbe4d0ad Bug fixes to support haploid genotypes, optimization for indexing, now tracks the line of the VCF and catches errors to tell you the line no and line when a parsing error occurred. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3646 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-25 21:08:41 +00:00
aaron 5f8a3f95ef The GT field once again reigns supreme (it must be the first genotype field). Thanks for the catch Eric. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3645 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-25 21:03:05 +00:00
kshakir 75c98c42b8 Started path of deprecation of Sting's @Argument by splitting the annotation into @Output and @Input. Anything that's not an @Output should be an @Input. 
Checked in example qscripts that are basically todo integration tests.
Replaced use of queue @Input/@Output with Sting's new @Input/@Output.  This means you'll now have to doc-ument the annotations.
More work on dependency resolution cycles being created in the graph during scatter/gather.
Filtering nulls to avoid NPE exceptions in scala's 'Collection'.hashCode.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3643 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-25 20:51:13 +00:00
weisburd 147ba68441 Fixed bug with mrnaCoord field - made it count exon positions only, rather than introns & exons 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3642 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-25 19:53:32 +00:00
aaron d3848745ab moving VCF 3.3 back into the GATK so Guillermo can make changes for VCF 4 output 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3639 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-25 18:20:06 +00:00
aaron b3edb7dc08 two fixes for the VCF 4 parser: 
- Allow the "GT" field in genotypes at any point in the genotype string (before we required they be the first key-value pair).
- Fix a bug with the phasing value put into the VariantContext, thanks for the catch Guillermo!

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3638 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-25 18:01:23 +00:00
aaron f9c7803d4e this got left off my last commit 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3635 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-25 02:42:44 +00:00
aaron 682f9b46c6 Two fixes together: 
1) Some improvements to the VCF4 parsing, including disabling validation.
2) Reimplemented RefSeq in the new Tribble-style rod system.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3630 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-24 22:17:03 +00:00
aaron 62bc7651a8 fix for PSPW with DbSNP mask. Added an integration test for this case. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3628 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-24 19:31:32 +00:00
aaron 8a9b2f4256 removing the GLF ROD. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3624 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-23 22:51:45 +00:00
aaron 611d834092 a couple of VCF 4 improvements: 
-Validation of INFO and FORMAT fields.
-Conversion to the the correct type for info fields (i.e. allele frequency is now stored as a float instead of a string).
-Checks for CNV style alternate allele encodings( i.e. <INS:ME:L1>), right now we exception out.  Maybe we should just warn the user?
-Tests for the multiple-base polymorphism allele case.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3622 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-23 20:21:43 +00:00
ebanks f0fc34bb8e Bug fix: N's are allowed in the ref so don't fail when e.g. dbsnp has an N! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3620 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-23 17:49:14 +00:00
chartl 75d4736600 Committing changes to comp overlap for indels. Passes all integration tests; minor changes to MVC walker. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3618 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-23 15:49:13 +00:00
ebanks 9b8775180e Turn on the memory improvement by default (assume the target interval list is sorted, since it is 99.9% of the time). Make the user throw a flag when it's specfically not sorted. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3617 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-23 15:44:55 +00:00
hanna 003dd4de3e Rev Picard with performance enhancements. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3615 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-22 22:54:23 +00:00
aaron 0cafd3d642 clip VCF alleles for indels: only a single left base, and as many right bases as align before converting to variant context. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3614 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-22 22:42:38 +00:00
aaron 9872b65803 clip to the null allele on the reference string in VCF 4, instead of stopping to perserve one reference base. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3613 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-22 20:52:19 +00:00
ebanks b5df2705c9 -Remove Nway output option 
-Remove in-memory sorting
-Default to name-sorting (although we allow coordinate sorting with the --sortInCoordinateOrderEvenThoughItIsHighlyUnsafe flag).

Cleaner, faster code.  Wiki has been updated (including how to use FixMateInformation.jar from Picard).  More changes coming soon.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3612 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-22 20:31:55 +00:00
kshakir 30cf78fdc0 Refactoring for a first version of scatter gather api with basic shell script implementations. 
Modified build script so that queue is cleaned during "ant clean".



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3611 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-22 18:39:20 +00:00
aaron a6d3e4bd47 Add code to allow reference alleles with 'N' in VariantContext, but not in the alternate allele(s). Also more updates to the VCF 4 code (fixed parsing for files without genotypes). 
This check-in will temperarly break the build (I need to see if Bamboo is correctly returning the log file for the failed builds).  

Will be fixed once Bamboo starts building.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3609 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-22 18:26:37 +00:00
ebanks 824c2bbac0 Finishing previous checkin 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3608 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-22 17:21:38 +00:00
ebanks 4727bcda24 Removing Beagle output from UG. Use ProduceBeagleInput walker instead (since it can be run post-filtration and respects the FILTER column). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3607 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-22 16:56:37 +00:00
aaron 32f324a009 incremental changes to the VCF4 codec, including allele clipping down to the minimum reference allele; adding unit testing for certain aspects of the parsing. Not ready for prime-time yet. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3604 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-22 06:31:05 +00:00
bthomas de9f1f575f Fixing command line parsing to accept negative number arguments. Command line definitions must now start with a letter or underscore; previously, they could start with a digit. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3603 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-21 21:54:31 +00:00
bthomas 9d6a341d15 Fixing the error messages thrown with bad interval arguments. I simplified the exception handling and made the messages more verbose. 
Note: the -L argument takes both interval strings and filenames. If you specify an interval string that is also a file, an error will be thrown to move the file: ie. if you have a file "chr1" in the parent directory, GATK will ask you to move/delete it. But, this only happens with interval string arguments, NOT with intervals that are contained in files, which is a majority of the use case. 



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3602 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-21 21:49:41 +00:00
bthomas 300a18b85f Updating the way reference data is processed, so GATK creates the .fasta.fai and .dict files automatically. If either (or both) don't exist, GATK will create them in the same folder as the fasta file. If it can't write the file, GATK will fail with a message to create them manually. 
Note that this functionality will only work if the directory with the fasta is writeable. GATK will fail if directory is read only and and either the .fasta.fai or .dict files don't exist. In the future, we could have these references be created in memory, but we decided against it this time. 

Locking was also added to ReferenceDataSource so no issues come up while running multiple GATKs on the same reference: we don't want one process to be half-finished and another try to read it. So, you could see error messages related to locking. See ReferenceDataSource.java for explanation of the locking strategy. 



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3601 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-21 21:42:42 +00:00
ebanks df1cadc4c9 Fix NullPointerException when priority list is left out 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3600 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-21 13:46:54 +00:00
hanna c806ffba5f Switching over DownsamplingLocusIteratorByState -> LocusIteratorByState. Some operations 
will not be as fast as they could be because the workflow is currently merge sam records (sharding)
-> split sam records (LocusIteratorByState) -> merge records (LocusIteraotorByState) -> split
records (StratifiedAlignmentContext), but this will be fixed when StratifiedAlignmentContext
is updated to take advantage of the new functionality in ReadBackedPileup.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3599 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-21 02:11:42 +00:00
hanna 1d50fc7087 Misc bug fixes: fix tracking of nInsertions with sample-split pileup constructor. Fix performance 
issue building up pileups from pileups of individual sample data.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3598 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-20 20:32:27 +00:00
hanna f18ac069e2 A refactoring / unification of ReadBackedPileup and ReadBackedExtendedEventPileup. 
Provides a cleaner interface with extended events inheriting all of the basic RBP
functionality.  Implementation is still slightly messy, but should allow users to
provide separate implementations of methods for sample split pileups and unsplit
pileups for efficiency's sake.
Methods not covered by unit/integration tests have not been sufficiently tested yet.
Unit tests will follow this week.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3597 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-20 04:42:26 +00:00
depristo 57a13805da GATK now uses a optimized indexing scheme in Tribble. 5x or more performance gain on files with many genotypes. Updated integrationtest that was failing and was clearly wrong. DB=; isn't a valid annotation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3596 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-19 21:36:41 +00:00
kiran 8ff93f77e6 Added evaluation module to count functional classes (missense, nonsense, etc.). At the moment, it only understands Cancer's MAF annotations. Added integration test for the functional class counting. Added better description for VariantEval. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3595 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-18 21:51:40 +00:00
chartl f44d8b150f Mendelian Violation Classifier now filters violations on the fly via command line arguments; and closes unterminated homozygous regions at the end of a chromosome (so we see arms falling off in the file, rather than in the log) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3592 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-18 19:32:24 +00:00
ebanks aa1852575e Add -noVerbose flag to stop output of INFO data. 
Cuts runtime by 30% and output from 65Mb to 1Kb.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3591 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-18 18:53:35 +00:00
rpoplin 724affc3cc Major bug fixes for the Variant Recalibrator. Covariance matrix values are now allowed to be negative. When probabilities are multiplied together the calculation is done in log space, normalized, then converted back to real valued probabilities. Clustering weights have been changed to only use HapMap and by-1000genomes sites. The -nI argument was removed and now clustering simply runs until convergence. Test cases seem to work best when using just two annotations (QD and SB). More changes are in the works and are being evaluated. Misc fixes to walkers that use RScript due to CentOS changes. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3590 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-18 17:37:11 +00:00
hanna 52477bd9e6 Add some missing methods to the pileup architecture. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3588 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-18 15:03:08 +00:00
hanna 5050b19457 We're unable to make the naive deduper more worldly, so we're killing it instead. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3587 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-18 13:54:27 +00:00
aaron b978d5946b adding changes for VCF 4, mostly in the way we handle VCF headers. The header fields are now aware of the differences between different VCF formats. There was also a bunch of clean-up of out-of-spec VCF used in the tests (mismatched VCF file format fields, etc), and updates to the associated integration tests. Also some logging statements for BTI. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3584 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-18 08:23:23 +00:00
hanna 48cbc5ce37 Merging the sharding-specific inherited classes down into the base. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3581 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-17 22:36:13 +00:00
hanna 612c3fdd9d First pass at eliminating the old sharding system. Classes required for the original sharding system 
are gone where I could identify them, but hierarchies that split to support two sharding systems have
not yet been taken apart.
@Eric: ~4k lines.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3580 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-17 20:17:31 +00:00
delangel b694ca9633 Cleanup: Don't require likelihood ROD in Beagle parameters when generating output VCF. Likelihoods file is only an input to Beagle but the Walker that generates a VCF doesn't need it, so it's silly to ask for it and it's error-prone. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3579 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-17 17:45:48 +00:00
hanna c1595a383a More bugfixes for cases where no sample name is present. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3578 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-17 16:46:02 +00:00
aaron 3d049204ed some refactoring for the variant eval output system 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3576 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-17 05:34:31 +00:00
hanna db1383d0b2 Rev the latest version of Picard. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3575 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 23:55:07 +00:00
hanna 5972ad1199 Fixes to mrl integration. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3573 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 20:40:10 +00:00
ebanks b75ded61b8 Removing obsolete rod; no longer needed given previous addition to SampleUtils. 
JIRA GSA-318


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3572 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 20:03:14 +00:00
kshakir c671864228 Re-allowing blacklist by read group id. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3571 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 19:45:44 +00:00
ebanks f003703912 Allow specification of particular rods for pulling out sample names. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3570 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 19:37:09 +00:00
ebanks 01ffa307c2 When going NWay out in the cleaner, use the new *merged* header (instead of the original one) for each bam file so that it matches the new uniquified read group ids in the reads. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3569 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 19:36:36 +00:00
kshakir 05c2f96bb4 Small update to the command line docs for read_group_black_list. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3568 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 19:23:34 +00:00
ebanks d7f3102c3f Fixed read group blacklist filter to look only at readgroups (and not the read's themselves). Otherwise, it fails when attribute tags with different meanings show up in both places (e.g. SM). Added performance improvement. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3567 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 19:14:37 +00:00
hanna e77f76f8e1 Reenabled downsampling by sample after basic sanity testing and fixes of the 
new implementation.  Hard testing and performance enhancements are still
pending.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3566 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 17:23:27 +00:00
kshakir c44fd05aa1 Fix for a reflection issue with generic types. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3565 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 15:58:38 +00:00
ebanks 7a91dbd490 Renamed some of the column names in Ti/Tv and Concordance modules so that they are clearer. Removed ValidationRate module (it was busted). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3564 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 15:53:06 +00:00
delangel 8cb16a1d45 a) Cleanup, remove -input argument from BeagleOutputToVCFWalker since it's not needed. 
b) Added back old Beagle ROD to maintain backward compatibility (does anyone even use this???)



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3563 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 02:13:08 +00:00
delangel d319a28be7 Complete rewrite of the Beagle functionality to read from Beagle output files and produce VCF with modified genotypes. Now, a new ROD system using Tribble is in place. Beagle inputs are set using -B beagleType,Beagle,pathToBeagleFile, where beagleType can be either beagleR2, beagleLike, beaglePhased or beagleR2 (BeagleOutputToVCFWalker requires all of the above). Only pending items: -input argument is now unused and can be removed, will be cleaned later. Wiki will be updated with new usage shortly. 
We can now run with a reduced memory footprint, and output VCF is exactly identical to previous version. Drawback is increased runtime because Tribble has to create an index for all the Beagle files when starting if the idx files are missing.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3562 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-16 02:01:35 +00:00
aaron d265397bf6 removing a reference to a unused internal Sun class 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3560 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-15 15:27:57 +00:00
asivache 42b8a8f295 slight change in output format 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3559 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-15 14:52:04 +00:00
kshakir 32fc221ffe Replaced pattern matched pipeline spec with annotated objects. 
Old version is no longer available.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3558 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-15 04:43:46 +00:00
sjia b99a5e06f3 Added option to only consider alleles of > specific allele frequency. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3557 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-15 02:09:35 +00:00
hanna 8a895f481f Proper exception chaining for troubleshooting Sendu's issue. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3556 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-15 01:38:36 +00:00
sjia 8defb30796 Documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3555 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 21:31:01 +00:00
weisburd c1046653a2 Fixed handling of records where gene-names are identical (eg. as in refseq NR_030638 in chr20) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3554 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 20:00:49 +00:00
weisburd 1e42984a16 Improved buffer-size arg handling 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3553 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 19:59:15 +00:00
sjia b3c3023c3c Allows callers to handle HLA reference files as input (rather than hard-coded paths) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3552 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 18:56:08 +00:00
asivache 9666d47d17 ooops, debug print now removed 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3550 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 18:07:12 +00:00
sjia abdc8521ea Added debug options for FindClosestHLAWalker 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3549 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 17:52:03 +00:00
sjia c38390eabb Added option for min number of matches between reads and alleles required to consider reads. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3548 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 16:08:49 +00:00
asivache 4ab1f440c3 A new argument: --targetIntervalsSorted (boolean flag). If specified, the interval file is assumed to be sorted (duh!) and it is NOT slurped into the memory but instead traversed directly on disk as needed. If the file turns out to be unsorted, an exception will be thrown at the point where inconsistency occurs (can be late into the processing!). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3547 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 16:00:22 +00:00
asivache 671ac00748 A simple utility class that implements a merging Iterator<GenomeLoc> built over an interval or bed file (this is NOT a rod, but rather a direct line-by-line file reader that converts strings to genome locs on the fly and merges overlapping intervals) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3546 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 15:54:37 +00:00
asivache f137bf8f85 now adaptor silently skips empty lines in the underlying string iterator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3545 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 15:35:07 +00:00
sjia d8c963c91c Remove PhaselikelihoodsWalker.java 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3544 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 15:21:43 +00:00
sjia 5704294f9d HLA caller updated - now searches all (common and rare) alleles, more efficient read filtering and allele comparison runs. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3543 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 15:14:40 +00:00
asivache d51e6c45a7 a utility class; turns string iterator into GenomeLoc iterator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3542 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 14:07:44 +00:00
asivache 7b7d3341f0 trivial refactoring: isFile renamed to isIntervalFile and made public 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3541 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-14 14:02:23 +00:00
hanna c3b68cc58d Rethinking DownsamplingLocusIteratorByState with a flattened read structure. Samples are kept 
independent while processing, and only merged back in a priority queue if necessary in a special
variant of the ReadBackedPileup.  This code is not live yet except in the case of naive deduping.
Downsampling by sample temporarily disabled, and the ReadBackedPileup variant is sketchy and
not well integrated with StratifiedAlignmentContext or the walkers.  Cleanup to follow.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3540 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-13 01:47:02 +00:00
kiran 804facb0cc Removing these utilities as part of a hostage negotation with Matt. Can I have my journal club paper now?! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3539 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-11 21:41:29 +00:00
asivache e6d8faf293 making 'parseLocation' public static - as simple as the logic is, it's better kept in one place and I need it! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3537 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-11 18:19:59 +00:00
ebanks 8c28be5933 Fixing a VCF bug for Sendu: we weren't emitting flags (booleans) correctly in VCF3.3 (rev'ed tribble for this). 
Updated dbsnp/hapmap membership info fields to be flags now instead of ints.
While I was there, I added the change in the Annotator for Jan to force reads to be from a specific sample.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3536 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-11 16:42:06 +00:00
ebanks 22620ba95c Adding "abi_solid" to the list of known platforms. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3534 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-11 13:37:19 +00:00
ebanks 63ad71cca6 Fix busted code. Note for all: 
String.valueOf(byte[]) doesn't work.  You must use new String(byte[]).


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3533 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-11 05:01:48 +00:00
weisburd 338bb9adf4 CommandLineProgram for measuring java I/O speeds for large plain-text or gzipped files. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3532 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-10 21:34:37 +00:00
weisburd 06fc5eecf8 Implemented TreeReducible - if num threads > 1, the output will be accumulated in memory and written to a vcf file at the end - in onTraveralDone(..). If num threads == 1, things will work as before - where vcf records are written to disk as soon as they are computed with map(..). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3530 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-10 20:57:23 +00:00
weisburd 3b375cb237 Sped up parseGenomeLoc(..) by replacing regexp with String.indexOf(..) - attempt 2 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3529 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-10 20:54:36 +00:00
bthomas 99b684ea89 Adding new support for reference data. ReferenceDataSource is a new class that manages reference data, and allows IndexedFastaSequenceFile to be a simple reader. This checkin also includes FastaSequenceIndexBuilder, which reads a fasta file and creates an index, like samtools faidx. Right now this is not enabled, because we are still working out thread safety. So the only new UI change is that GATK can be run without a fai file. Soon, we will enable 1) GATK to be run without a dict file too, and 2) both dict and fai files will be saved on disk for future program executions. For more info, see ReferenceDataSource.java 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3527 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-10 20:10:23 +00:00
hanna f55f32d4ee Bug fix. 
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 2010-06-10 01:53:26 +00:00
ebanks ca4eab1d23 Now annotations that require reads return null if there's no alignment context, so that running without reads adds annotations only for the appropriate fields. 
Added an integration test for the read-less case.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3525 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 20:36:46 +00:00
aaron 6941c81bfa reverting revision 3522 to the old code until we fix the tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3524 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 19:25:02 +00:00
hanna dbee21a50f Bugfixes for the case when no read groups / no samples are available. 
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 2010-06-09 18:47:05 +00:00
weisburd adc4c4e577 Sped up parseGenomeLoc(..) by replacing regexp with String.indexOf(..) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3522 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 18:11:43 +00:00
chartl 20167fd411 Final changes to MVC -- associates variants with regions of homozygosity in child and parents, corrects for genotype errors, and prints out a separate file with informationf or each region of homozygosity. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3521 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 18:05:37 +00:00
weisburd fdded73861 Improved error reporting 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3520 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 17:52:48 +00:00
aaron 4f00e265a8 quick update for a change I implemented for Ryan 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3519 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 17:23:31 +00:00
aaron ad98512f6c adding changes so that we look at the headers already loaded by the engine for samples and other VCF utils, and not create readers for each file to get them (this caused Tribble to regerenate indices if the index file can't be written to disk). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3518 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 17:21:12 +00:00
weisburd c1b7bcc786 Fixed handling of mitochondrial genes - added special cases such as ATT being a start codon in mitochondria. Added warning if a gene doesn't start with Met or end in a stop codon 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3517 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 17:15:47 +00:00
weisburd 4f1181974b Added toString() method 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3516 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 17:12:57 +00:00
ebanks 9b2fcc4711 Refactoring of the annotation system: 
1. VA is now a ROD walker so it no longer requires reads (needs a little more testing)
2. Annotations can now represent multiple INFO fields (i.e. sets of key/value pairs)
3. The chromosome count annotations have been pulled out of UG and the VCF writer code and into VA where they belong.  Fixed the headers too.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3513 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 17:05:51 +00:00
hanna 84563b37e5 Partial flattening of the hanger data structure. Hanger data structure is 
not currently as flat as it could / should be, but it's already comparable
to the speed of the reference implementation.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3512 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 16:28:49 +00:00
chartl 8f9e3e8ad7 Commit for Kiran; but this is now working, barring little exceptions that I've yet to run across... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3511 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-09 14:21:19 +00:00
hanna c2858c8988 Minor performance enhancement. Checkpoint commit before major performance 
overhaul.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3504 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-08 21:39:39 +00:00
chartl 5ed2818ffb Forgot to commit code i relied upon 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3503 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-08 21:01:35 +00:00
chartl 736098b58d A quick commit before running home. This is a re-factored version of the OppositeHomozygoteClassifier which will work with deNovo violations as well. Some code still needs to be migrated from OHC which is wy that walker isn't yet deleted. This'll be up and running tonight. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3502 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-08 20:47:01 +00:00
delangel de134c226d Removed ability of users to specify annotations to recompute, cleanups. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3501 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-08 19:17:59 +00:00
ebanks 4d1a6b3d99 quick changes for G 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3500 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-08 16:33:27 +00:00
delangel 907931c902 a) Update annotations when creating new vcf with Beagle's imputed data. Since genotypes may (will) change based on imputation, several annotations need to be updated. By default, AC, AF, AN and AB will be updated. User can force extra annotaqtions to be updated with -A <annotation> argument. 
b) Several cleanups and beautifications.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3499 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-08 15:12:04 +00:00
chartl 933133ee28 Initial commit of the opposite homozygote classifier. Currently does the following, given a trio vcf: 
+ Identifies opposite homozygote sites
 + Identifies the parent from whom it is expected that a null allele was inherited (or whether it was a putative genotype error; e.g. mom=homref, dad=homref, child=homvar)
 + Labels each opposite homozygote with its homozygous region in the child (e.g. region 1, region 2)
 + Labels each opposite homozygote with the size of the homozygous region in which it was found, the number of child homozygotes in the region, and the number of opposite homozygote violations within that region

To come:
 + Classification of sites as likely tri-allelic


Note that this is very experimental



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3498 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-08 03:56:07 +00:00
hanna 199e4208cd Bug fixes. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3497 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-08 00:30:33 +00:00
hanna 52ab9f2417 Feature parity between LocusIteratorByState, DownsamplingLocusIteratorByState, including pushing mrl / 
the LocusOverflowTracker into LocusIteratorByState.  Note that the 'Matt Hanna exception', is still enabled
because I haven't yet validated the performance of the DownsamplingLocusIteratorByState when running
without downsampling.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3496 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-07 22:58:21 +00:00
hanna 5c4d070566 Push Mark's changes in LocusIteratorByState into DownsamplingLocusIteratorByState 
in preparation for merging the two into one.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3495 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-07 17:29:30 +00:00
depristo 6eeb1693ca JEXL2 upgrade. Improvements to JEXL processing including dynamically resolving variable -> value bindings instead of up front adding them to a map. Performance improvements and code cleanup throughout. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3494 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-07 00:33:02 +00:00
hanna c1ecf75dd5 Update to the latest rev of the picard sharding patch. Includes updates reflecting 
the imminent move of IlluminaUtil into picard public.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3493 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-06 20:33:21 +00:00
delangel c503f01dcf More cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3492 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-06 17:41:38 +00:00
delangel d4c66d6191 a) Small cleanup 
b) Fix major issue with Beagle likelihood converter: if likelihood triplets from UG end up being too low, then Beagle input file will be produced with 0.00,0.00,0.00 triplet. If all samples at a marker have this issue, Beagle will effectively produce junk. To fix, likelihoods are renormalized before converting to linear space.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3491 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-06 17:31:59 +00:00
depristo cfa18f6743 Fixing missed update with new Allele in it 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3490 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-04 23:56:34 +00:00
depristo 3ea506fe52 No more new Allele() -- must use create. Allelel simple alleles are now cached for efficiency reasons. VCF4 codec optimizations -- 4x performance in general. Now working in general but hooked up to the ROD system now as VCF4. WARNING -- does not actually work with indels, genotype filters, etc. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3489 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-04 23:03:55 +00:00
delangel ef47a69c50 a) First fully functional (sort of) version of walker that parses Beagle imputation output files and produce a vcf with imputed genotypes. 
More doc/info to follow shortly. Issues still to be solved:
a) Walker changes all genotypes based on Beagle data, but annotations on the original VCF are unchanged. They should in theory be recomputed based on new genotypes.
b) Current implementation is ugly, dirty unwieldy and will necessitate a refactoring soon so I can keep my pride. Most aesthetically affronting issue right now is that we read the full Beagle files at initialization and keep them in memory, but a more delicate implementation would just read from files on a marker by marker basis. Issue that currently prevents this is that BufferedReader() instances don't seem to play nice when called from the map() function.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3488 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-04 20:37:25 +00:00
depristo b811e61ae1 Optimized, nearly complete VCF4 reader 2-4x faster than the previous implementation, along with a VCF4 reader performance testing walker that can read 3/4 files, useful for benchmarking 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3487 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-04 18:11:38 +00:00
aaron 6482b87741 adding the super experimental, half-broken, generally crippled, awkwardly commented, header ignoring vcf4 code. Don't use this, unless you're a developer for VCF4. If so, remove the exception from the constructor so that it won't always exception out. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3486 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-04 07:38:46 +00:00
aaron 0b03e28b60 updating the tribble library to include the reference dictionary reading / writing. We now check the dictionaries of any tracks that have them against the reference (all new tribble tracks and out-of-date tracks will have this). Also renamed some classes to be more reflective of their function. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3485 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-04 06:34:26 +00:00
hanna 3d055e3d16 Fail fast if users try to parallelize a read walker. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3484 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-03 18:14:33 +00:00
hanna 7d79848f40 Better error message when bam file / list file with wrong extension is 
supplied.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3483 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-03 17:52:48 +00:00
ebanks 597b3744ab Always use phasing info when converting genotypes to strings 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3482 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-03 17:50:50 +00:00
depristo e2b41082af GATK now does automatic adaptor filtering in locus iterators (but not expt. downsampling iterator). General support for LocusIteratorFilters just like read filters but only applying at particular bases. Updated tools with new MD5 sums due to adaptor bases in their integrationtest data. Not that as a side effect here reads close to each other with odd orientations are also filtered out. Updated minor argument to VariantRecalibrator to change the qStep value on the command line 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3481 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 22:26:32 +00:00
aaron 8ec091d6d2 re-enabling regeneration of the tribble index if it's out of date. Also moved the class that can detect text in the log4j stream (useful in testing to make sure appropriate messages are generated). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3480 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 17:45:51 +00:00
asivache f0c379dde8 Unconsequential changes in report formatting 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3479 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 17:43:25 +00:00
weisburd 3ab936181c Supports the join feature of GenomicAnnotator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3478 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 16:29:57 +00:00
weisburd f5f7217413 Implemented joins 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3477 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 16:28:53 +00:00
weisburd 09c3b15af3 Implemented joins 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3476 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 16:28:06 +00:00
weisburd e14ae471a0 Refactored some of the small utility methods 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3475 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 16:26:00 +00:00
weisburd 898a78e97d Added toString() 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3474 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 16:24:25 +00:00
weisburd 12c3e3ecda Added back the check for values.size() != header.size(). Now exception will be thrown if number of columns in a record doesn't equal number of columns in the header 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3473 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 16:23:05 +00:00
rpoplin 290771a8c2 Automatic cutting of recalibrated variant calls using ApplyVariantCuts. VariantRecalibrator produces the tranches plot alongside the optimization curve. Specify the levels using -tranche 1.0 -tranche 5.0 etc 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3472 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 15:03:00 +00:00
ebanks 4a555827aa Removing more toUpperCase sanity checks 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3471 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 14:38:39 +00:00
ebanks 56e504789a trivial change: toUpperCase no longer necessary 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3470 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 14:00:47 +00:00
rpoplin 87fe60fe4f Fix for Sendu. new Process and p.waitFor() don't seem to work on his farm. Throws an IOException. This was a problem way back with AnalyzeCovariates too. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3469 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-02 11:37:10 +00:00
ebanks 7f0c638653 Fix for the indel cleaner: I forgot to "unclip" the cigar string (even though the clipped bases were removed) before using it as an alternate consensus in a particular instance. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3468 348d0f76-0448-11de-a6fe-93d51630548a
 2010-06-01 02:07:20 +00:00
depristo 2b02324587 Support for detecting and automatically excluding reads reading into the adaptor sequence and, if desired, also only showing the first pair when two reads overlap in the fragment. Not enabled, an intermediate check in before updating and verifying the impact on locus walkers everywhere. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3465 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-30 18:00:12 +00:00
ebanks eb25e41111 minor update to new tribble name 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3462 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-28 20:23:25 +00:00
ebanks ffeb3fd80d Thanks to Guillermo, I found a bug in the Unified Genotyper output: GL was posteriors instead of likelihoods. Not a huge deal because the 
priors were flat, but fixed nonetheless.
Also, needed to update Tribble.
Minor updates to the Beagle input maker.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3461 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-28 19:28:26 +00:00
rpoplin 522dd7a5b2 Adding the variantrecalibration classes. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3459 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-28 18:21:27 +00:00
rpoplin 2014837f8a VariantOptimizer package is moved to core, renamed as VariantRecalibration, and added to the binary release package. VariantOptimizer walker is renamed to GenerateVariantClustersWalker and ApplyVariantClustersWalker renamed to VariantRecalibrator. Integration tests added, performance tests still to be done. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3458 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-28 18:20:18 +00:00
aaron 871cf0f4f6 Call out ROD types by there record type, instead of the codec type (which was clumsy). So instead of: 
@Requires(value={},referenceMetaData=@RMD(name="eval",type= VCFCodec.class))

you'd say:

@Requires(value={},referenceMetaData=@RMD(name="eval",type= VCFRecord.class))

Which is more in-line with what was done before.  All instances in the existing codebase should be switched over.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3457 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-28 14:52:44 +00:00
depristo cc2bf549c8 Removing my unnecessary optimization. 10 lines later in the code the same optimization was applied. A monumental waste of time. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3455 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-28 14:10:48 +00:00
depristo 6485e8383d Trivial change to retrigger broken build that really isn't broken 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3453 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-27 23:33:46 +00:00
depristo f2e7582cfc Reorganization of SW code for clarity. Totally failure at raw optimization. Discovered that ~50% of reads being cleaned were perfect reference matches. New code comes with flag to look at NM field and not clean perfect matches. Can we turned off with command line option (needed for 1KG bams with bad NM fields). Going to rerun cleaning jobs due to accidentally rebuilding of stable codebase and loss of 2 days of runtime. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3452 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-27 23:16:00 +00:00
aaron e1b0aefb29 fix for parallelism bug 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3451 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-27 22:16:14 +00:00
aaron cded9ec985 adding a command line option, -etd (enable threaded debugging), that uses a custom thread pool class to catch exceptions thrown inside of a thread. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3450 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-27 21:57:56 +00:00
ebanks e2674671e7 The liftover code needs to *hard filter* records whose reference changes (since they no longer adhere to the VCF spec as they don't match the new reference - and can't be converted to VariantContext). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3448 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-27 19:22:47 +00:00
chartl ff4a0764df Read error rate is now parallelizable 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3447 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-27 19:00:09 +00:00
depristo dfc36c1e95 Restructuring of the mandatory read filters for traversals. Now everything uses ReadFilters, even for the required filters like being mapped for LocusWalkers. Statistics now tracked for each read filter used during the traversal and info emitted in INFO at the end. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3445 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-26 22:12:25 +00:00
delangel 3873dccb35 First fully functional (though preliminary) version of walker that takes an input VCF and outputs a Beagle .bgl file that can be used for missing genotype calls/haplotype imputation. For now, only supported input format is likelihood format for unrelated individuals. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3444 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-26 21:03:23 +00:00
chartl f9efc1248c VariantEvalWalker now takes indels if you throw the -dels flag. IndelLengthHistogram appears to be working properly, it is turned off by default (as it is experimental) but you can turn it on in your own repository. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3443 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-26 20:03:14 +00:00
chartl 0265199ce4 First pass at an IndelLengthHistogram module for variant annotator. Off by default. Will be tested shortly (have to commit, so I can check out in another directory, so that compiling won't kill all my jobs running on LSF) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3440 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-26 15:04:39 +00:00
aaron a2fab07258 fixed the build problem: there were two copies of the AnnotatorInputTable Codec and Feature in two different spots. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3439 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-26 14:47:15 +00:00
depristo 5928047d8b Optimization of reference window calculation to us bytes not char and no uppercasing since reference and read bases are always uppercase now. Should remove some ~5% of runtime of UG. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3438 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-26 14:10:26 +00:00
chartl 88a06ad81f Changes to Depth of Coverage: 
- For speedup in large number of samples, base counts are done on a per read group level, then
   merged into counts on larger partitions (samples, libraries, etc)
   + passed all integration tests before next item
- Added additional summary item, a coverage threshold. Set by (possibly multiple) -ct flags,
   the summary outputs will have columns for "%_bases_covered_to_X"; both per sample, and
   per sample per interval summary files are effected (thus md5s changed for these)

NOTE:

This is the last revision that will include the per-gene summary files. Once DesignFileGenerator is sufficiently general, and has integration tests, it will be moved to core and the per-gene summary from Depth of Coverage will be retired.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3437 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-26 03:39:22 +00:00
rpoplin 062b316881 Better Exception message when can't find annotation value in variant recalibrator. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3434 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-25 21:15:50 +00:00
rpoplin bf530d23de Variant Recalibrator now makes use of a prior on known/novel status as well as on allele frequency spectrum. The VariantOptimizer walker now clusters with all variants but gives more weight to knowns / hapmap / 1KG / MQ1 sites. The weights are all optional command line arguments. We no longer assign default values to annotations that are malformed. The walkers will crash with exception so as to not cover up potential issues. We only produce titv-less clusters now, and so the titv argument in VO was removed and the WithoutTiTv string that gets added to the cluster file is removed. The wiki is updated to show new example commands. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3433 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-25 21:08:31 +00:00
ebanks ae6c014884 Fixed UG parallelization bug. Better integration test to catch this in the future. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3432 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-25 21:03:45 +00:00
ebanks 772f558ae0 Massive change to the indel realigner code. We now properly deal with soft-clipped reads. Also, improved left-alignment code. 
Small change for Ryan to get hard-clipped reads working for the recalibrator.

PLEASE DO NOT RELEASE THIS WEEK.  I still have some more testing to do and need Mark to run WG jobs.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3430 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-25 20:04:33 +00:00
aaron f3e2aae570 add experimental support for tabix files (for any of our Tribble rod types), as long as they end in .gz and can be read by the tabix reader. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3429 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-25 04:44:46 +00:00
weisburd 8db7c97c4d Moved AnnotatorInputTableFeature and Codec to org.broadinstitute.sting.gatk.refdata.features.annotator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3427 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-24 14:38:54 +00:00
weisburd 4aa749c709 Moved AnnotatorInputTableFeature and Codec to org.broadinstitute.sting.gatk.refdata.features.annotator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3426 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-24 14:38:07 +00:00
weisburd aca3bcb193 Moved AnnotatorInputTableFeature and Codec to org.broadinstitute.sting.gatk.refdata.features.annotator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3425 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-24 14:37:17 +00:00
weisburd 64ed770250 Moved AnnotatorInputTableFeature and Codec to org.broadinstitute.sting.gatk.refdata.features.annotator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3424 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-24 14:36:28 +00:00
hanna ee3f2eb1d0 Don't output traversal reduce result in the logger. In many cases, the reduce 
result is tangential to the product of the analysis and having the logger always
emit it can confuse the output (such as in the new reduceByInterval 
DepthOfCoverage walker).  If users want to emit it, they can choose not override
onTraversalDone, or override onTraversalDone and write results to the output
stream / logger / whatever their choice.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3422 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-23 22:41:43 +00:00
hanna a40e64e47b A downsampling validator. Compares the generated pileup passed in from the alignment context to the reads, 
passed in as a Tribble SAM text feature.  If the generated pileup contains a valid set of reads according to
the downsampling rules, the test passes.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3421 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-23 21:49:54 +00:00
delangel a280a0ff0d a) Made HaplotypeScore default annotation. This changed several integration tests, whose MD5 is now updated. 
b) Disabled BaseQualRankSumTest, the returned p-values differ wildly from Matlab/R-provided ones, cause TBD.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3419 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-21 22:25:17 +00:00
hanna b10950c691 Simple performance optimization -- cache the number of reads in the locus hanger. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3417 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-21 19:26:16 +00:00
delangel 355396109b Bug fix to avoid build failure (class changed under me??) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3416 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-21 18:48:56 +00:00
delangel 1753d07b02 Added AnnotationByAlleleFrequencyWalker - walker takes an input vcf, a reference vcf and a list of annotations (with the -A argument). For each site present in both VCF's, it outputs the given annotations into the screen as well as allele frequency. Since HapMap vcf reference doesn't include AF in annotations, it computes it from Chromosome, Het and HomVar counts. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3415 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-21 18:31:34 +00:00
chartl 7fb3f2d3eb Annotator now buffers indel calls (prevents double-output from double-calls to map) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3413 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-21 16:34:34 +00:00
chartl 4e834b5e35 VFW now uses a ref window and thus is compatible with indels. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3412 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-21 15:59:42 +00:00
chartl 88cb93cc3c Changes to Depth of Coverage (added maximum base and mapping quality flags; with new integration tests -- because they use b36, and the other test uses hg18, it's in a different class (integration test system can't change refs on the fly). Initial change to VariantAnnotator to allow it to see extended event pilups; you currently have to throw the -dels flag; and it's specified as "very experimental". Yet,all the integration tests pass. 
Homopolymer Run now does the "right" thing (e.g. single bases are represented as HRun = 0 rather than HRun = 1) for indels. AlleleBalance now does something close enough to correct.

Added a convenience method to VariantContext that will return the indel length (or lengths if a site is not biallelic).



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3409 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-21 13:02:01 +00:00
depristo 6faf101c6c Minor improvements to Callable Loci for public consumption 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3408 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-21 12:50:11 +00:00
hanna 388dd8d64d Fixing bugs in downsampler introduced when I added Ryan's dup eliminator. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3407 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-21 02:53:12 +00:00
depristo a10fca0d5c Genotyper now is using bytes not chars. Passes all tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3406 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-20 21:02:44 +00:00
hanna 7389077b3b A few misc usability fixes: 
- Clarify the message emitted when -XL is supplied so I don't spend another half day chasing a bug that doesn't exist.  
- Crash with a helpful message when running -nt with non-TreeReducible walkers.
- Crash with a helpful message when running -nt with reduceByInterval walkers.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3405 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-20 19:02:02 +00:00
aaron b543dd4ac4 more aggressive checks for the locking, and some more documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3404 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-20 16:16:36 +00:00
depristo 1ab00e5895 Retiring multi-sample genotyper 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3401 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-20 14:10:56 +00:00
depristo 727822adb4 BaseUtils has more clear distinction between byte and char routines. All char routines are @Depreciated now. Please use bytes. Better organization of reverse(), now in Utils not BaseUtils. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3400 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-20 14:05:13 +00:00
depristo 6ce3835622 Removing unused methods in QualityUtils; ReferenceContext now converting all bases to upper case, but can be disabled with static boolean 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3399 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-20 12:38:06 +00:00
depristo 5abac5c057 A few more char -> byte cleanups 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3398 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-20 00:02:06 +00:00
depristo 8a725b6c93 Restructuring of ReferenceContext and ReadWalkers to accept a ReferenceContext. Now ReferenceContext is byte[] backed not char[]. Please no more chars for the reference. All of the tests pass now. Coming check-ins are going to clean up the char / byte problems in the GATK 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3397 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 23:27:55 +00:00
aaron 02cc1afdc8 remove RodBed and all it's dependencies. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3396 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 19:12:30 +00:00
chartl ffb1b46166 Added a GCCalculatorWalker for a oneoff analysis for Mark Daly (GC content of agilent 1.1 targets) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3395 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 18:49:51 +00:00
aaron 0036df7b03 adding a convenience method for getting at the RODs that overlap a specific locaiton as GATKFeatures. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3394 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 17:40:20 +00:00
aaron ca386439be only emit a warning if the tribble index is out of date, don't remove and replace it for them. Added a test case where the log4j appender checks the logging messages for the appropriate output. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3393 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 15:12:48 +00:00
hanna 017ab6b690 Experimental versions of downsampler and Ryan's deduper are now available either 
as walker attributes or from the command-line.  Not ready yet!  Downsampling/deduping 
works in a general sense, but this approach has not been completely optimized or validated.
Use with caution.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3392 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 05:40:05 +00:00
weisburd 46ba88018d Updated to the new readHeader(..) api 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3391 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 04:06:34 +00:00
weisburd 984c51efd3 Updated to use Tribble-based GATKFeature instead of TabularROD 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3390 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 03:42:12 +00:00
weisburd 42ee16f256 Updated to use Tribble-based GATKFeature instead of TabularROD 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3389 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 03:41:37 +00:00
weisburd d8469e2fba Updated to use Tribble-based GATKFeature instead of TabularROD 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3388 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 03:40:47 +00:00
weisburd d65b2d32d1 Removed AnnotatorROD which has been ported to Tribble 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3387 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 03:39:34 +00:00
weisburd b82116f488 Removed AnnotatorROD which has been ported to Tribble 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3386 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-19 03:39:20 +00:00