Commit Graph

1281 Commits (95d6ddc38c58bdd50c4bbbb41f34cec15aa82db5)

Author SHA1 Message Date
fromer 41e53d37e1 Changed ReadBackedPhasing to be a RodWalker (more efficient, since it is ROD-focused)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4117 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 19:43:57 +00:00
fromer aa8cf25d08 Implemented fully symmetric sliding window read-backed phaser
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4104 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-24 21:12:32 +00:00
ebanks 90aef66ec5 Minor fixes for my last commit
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4090 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-23 23:25:29 +00:00
ebanks ef795825fd Yet more argument consistency updates
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4089 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-23 20:52:30 +00:00
ebanks ccda4f6ec1 More output consistency changes (updating wiki docs as I go along).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4086 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-23 18:46:08 +00:00
ebanks 55a8306a0d Update the @RMD tags to look for VariantContext.class instead of ReferenceOrderedDatum.class. Since the test for rod type is broken this won't affect anything right now.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4084 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-23 17:49:37 +00:00
aaron 35b9883dd6 vcfwriter is in tribble now
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4083 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-23 17:01:04 +00:00
kiran 295472bf69 Simple change to handle a no-call (must avoid asking for the second allele, which will be be null in this case). Also, added a hack to deal with input VCFs where there are no genotype likelihoods (needed in order to process Hapmap and 1KG VCFs). In this mode, called genotypes are assigned a likelihood of 0.96, and alternative genotypes are given 0.02 each. I know Beagle actually takes genotype data without likelihoods, so this might not be the right way to do this.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4081 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-23 05:13:09 +00:00
hanna b80cf7d1d9 Modifications to the output system for better interaction with @Output. Multiplexed arguments. More details in the Monday meeting.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4077 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-22 14:27:05 +00:00
depristo b6989289fc Potential bug fix for bad references where some codons may have Ns
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4075 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-21 12:09:33 +00:00
ebanks 165dc6d3b0 Ryan, what did you decide about supporting this tool? Is it still useful?
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4073 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-20 19:16:14 +00:00
fromer 1c4784999a Updated to work exclusively in log10 space
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4069 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-19 21:31:07 +00:00
fromer 3af4e618cc Fixed precision issues with PQ (phasing quality)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4068 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-19 20:34:47 +00:00
fromer effeedf1a3 Updated Bayesian phasing method to output per-site phasing statistics (and to not cap PQ at 40)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4064 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-19 19:55:47 +00:00
fromer 1336ea17a3 quality-scored-based Bayesian phasing algorithm implemented
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4055 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-18 21:17:46 +00:00
kiran 3d63302b70 Deprecated. Use SelectVariants instead.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4043 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-16 15:07:50 +00:00
fromer dfe2922b5e First working version of statistical haplotype phaser
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4031 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-13 21:29:45 +00:00
ebanks f36c0ed613 Stop building obsolete VCFTools and CGUtilities
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4030 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-13 19:28:36 +00:00
hanna cb144734c0 Getting rid of GenotypeWriter interface. Of note:
- GATKVCFWriter deleted, to be replaced if absolutely necessary when VCF writing goes into Tribble.
- VCFWriter is now an interface, for easier redirection.
- VCFWriterImpl fleshes out the VCFWriter interface.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4026 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-13 16:33:22 +00:00
kshakir f39dce1082 Exposed CommandLineFunction defaults to the Queue.jar command line (see -help).
Added ability to skip up-to-date jobs where the outputs are older than the inputs.
Changed -T CountDuplicates --quiet to --quietLocus so that Queue GATK extensions can use both short and full argument names.
Short names can be used to set values on Queue GATK extensions, for example: vf.XL :+= myFile
Moved Hidden from the GATK to StingUtils.
Updated ivy from 2.0.0 to 2.2.0-rc1 to fix sha1 issue: http://bit.ly/aX72w7
Added Queue to javadoc and testing build targets.
Added first Queue unit test.
Another pass at avoiding cycles in the DAG thanks to all function I/O being files.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4017 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-11 21:58:26 +00:00
ebanks 419a36f74c Starting the clean up of the sting.utils.genotype code which is all either moving to Tribble, moving to sting.utils.vcf, or being removed.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3994 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-10 02:16:05 +00:00
kiran 9aa70d9c7c Replaced by SelectVariants
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3979 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-08 07:07:42 +00:00
ebanks 637a1e5055 Updating to use the new VA interface
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3975 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-08 05:31:01 +00:00
aaron 72ae81c6de VariantContext has now moved over to Tribble, and the VCF4 parser is now the only VCF parser in town. Other changes include:
- Tribble is included directly in the GATK repo; those who have access to commit to Tribble can now directly commit from the GATK directory from Intellij; command line users can commit from 
inside the tribble directory.
- Hapmap ROD now in Tribble; all mentions have been switched over.
- VariantContext does not know about GenomeLoc; use VariantContextUtils.getLocation(VariantContext vc) to get a genome loc.
- VariantContext.getSNPSubstitutionType is now in VariantContextUtils.
- This does not include the checked-in project files for Intellij; still running into issues with changes to the iml files being marked as changes by SVN

I'll send out an email to GSAMembers with some more details.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3954 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 18:47:53 +00:00
fromer b21f90aee0 Added preliminary framework for performing short-range phasing (ReadBackedPhasingWalker.java)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3953 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 14:56:34 +00:00
ebanks 1539791a04 Fix for Kiran: when using VCFs for the comp tracks in the Annotator(s), don't put the headers from them into the output VCF.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3950 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 04:45:47 +00:00
chartl 38e65f6e1b Added: A VariantEval module that gives simple metrics by sample, an an abstract class that makes per-sample modules easy to write (but a little bit clunky since a class needs be defined for each data point -- see SimpleMetricsBySample as an example). AnalysisModuleScanner needed a slight update to pull in data points from parent classes for this to work (thanks Khalid for showing me how to do this). After a code review with Aaron (thanks) and ensuring integration tests pass, I am committing.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3939 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-04 19:37:39 +00:00
chartl 2bc69572cb Make transcript2info capable of handling b37/hg19 contigs
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3915 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-02 17:32:08 +00:00
delangel 4fc1db7aaf Change interface to VCFWriter add() method to take only 1 byte from reference (since that's the only thing it needs), to prevent bugs like having people call it with ref.addBases() which is wrong (since it provides bases starting from the left of reference context window).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3868 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-23 20:24:03 +00:00
delangel 5eef15cfdf a) Bad bug fix to CombineVariants: when indels were being merged, the reference base provided was wrong - ref.getBases()[0] was being used, but this returns bease at start of window. Instead, the reference at current locus should be used.
b) Cosmetic change to Beagle annotation description.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3861 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-23 15:13:47 +00:00
ebanks c6ad26e04f 1) When quals/GQs are really integers (x.00), strip off the floating points.
2) Keep track of whether vcf records are unfiltered vs. pass filters in the variant context so we can regenerate the records on output.
3) No more "ID" hard-coded all over the code to set the VariantContext ID.  Use a static variable instead.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3840 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-20 18:01:45 +00:00
ebanks f742980864 1. Refactoring of GenoypeWriters so that parallelization now works again with VCF4.0. We now have just a single reference to the old VCF classes, and that one will be purged soon.
2. Moved Jared's VCFTool code into archive so that everything would compile.
3. Added the vcf reference base (needed for indels) as an attribute to the VariantContext from the reader.
4. TribbleRMDTrackBuilderUnitTest was complaining that a validation file didn'r exist, so I commented it out.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3835 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-20 06:16:45 +00:00
aaron f4cfb0f990 The first step in integrating Jim's tree based index scheme:
- changed to a better method for getting headers from Codecs
- some removal of old commented out code in the GATKAgrumentCollection
- changes for the rename of FeatureReader to FeatureSource
- removed the old Beagle ROD
- cleaned up some of the code in SampleUtils

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3826 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-19 04:49:27 +00:00
depristo 7c42e6994f FindBugs fixes throughout the code base
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3823 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-18 16:29:59 +00:00
delangel 55b756f1cc First step in major cleanup/redo of VCF functionality. Specifically, now:
a) VCF track name can work again with 3.3 or 4.0 VCF's when specifying -B name,VCF,file. Code will read header and parse automatically the version. 
b) Old VCF codec is deprecated. Reader goes now direct from parsing VCF lines into producing VariantContext objects, with no intermediate VCF records. If anyone can't resist the urge to still input files using the old method, a new VCF3Codec is in place with the old code, but it will be eventually deleted.
c) VCF headers and VCF info fields no longer keep track of the version. They are parsed into an internal representation and will be output only in VCF4.0 format.
d) As a consequence, the existing GATK bug where files are produced with VCF4 body but VCF3.3 headers is solved.
e) Several VCF 4.0 writer bugs are now solved.
f) Integration test MD5's are changed, mostly because of corrected VCF4.0 headers and because validation data mostly uses now VCF4.0.
g) Several VCF files in the ValidationData/ directory have been converted to VCF 4.0 format. I kept the old versions, and the new versions have a .vcf4 extension.

Pending issues:
a) We are still not dealing with indels consistently or correctly when representing them. This will be a second part of the changes.
b) The VCF writer doesn't use VCFRecord but it does still use a lot of leftovers like VCFGenotypeEncoding, VCFGenotypeRecord, etc. This needs to be simplified and cleaned.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3813 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-16 22:49:16 +00:00
hanna dfddf8fd75 - Bring the PaperGenotyper up to code.
- Remove some old debugging cruft regarding handling of threaded engine exceptions.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3796 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-14 22:31:21 +00:00
ebanks af23762778 Removing more references to VCFRecord
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3789 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-14 11:54:23 +00:00
ebanks 460283f6d2 No more manually converting VariantContexts to VCFRecords. You should be utilizing VCs and not VCFRecords.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3787 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-14 05:21:28 +00:00
ebanks 6b5c88d4d6 The GATK no longer writes vcf3.3; welcome to the world of vcf4.0. Needed to fix a few output bugs to get this to work, but it's looking great. Much more still to come. Guillermo: hopefully this doesn't break your local build too badly.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3786 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-14 04:56:58 +00:00
ebanks 9a05e8143d Move to 4.0 and away from VCFRecord.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3780 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-13 15:54:54 +00:00
ebanks 7e7da75d27 Moving over to 4.0 and away from VCFRecord
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3778 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-13 14:07:10 +00:00
delangel 297f15a60c Protect ProduceBeagleInputWalker against evil users who feed to it VCF's with indels, no variation sites or other interesting markers: Write to Beagle input only in biallelic SNP sites since that's the only thing Beagle can do.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3772 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-12 20:54:42 +00:00
delangel 5992b79159 a) Simplify normalization code in ProduceBeagleInputWalker, as to always normalize, and use MathUtils.normalizeFromLog10 to do this.
b) Several improvements to BeagleOutputToVCFWalker:
1. If a Hapmap input track is provided (e.g. -B comp,VCF,file), Hapmap sites will be annotated with Hapmap Allele count and allele frequency (key ACH, AFH).
2. If probability of correct genotype is lower than ncthr (optional argument provided by user, default = 0.0), walker will keep original calls instead of using Beagle calls.
3. Instead of annotating just whether Beagle had modified a site, annotate instead HOW MANY genotypes in a site were actually changed by Beagle.

All three improvements are mostly for debugging and analysis only.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3769 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-12 19:54:58 +00:00
ebanks e50627a49e 1. Updated tests and added integration test for liftover code.
2. Updated liftover code (and scripts) to emit vcf 4.0 and no longer depend on VCFRecord.
3. Beagle walker now also emits vcf 4.0.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3767 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-12 17:58:18 +00:00
ebanks 8086ab1f75 Pulled sample/header merging routines out of CombineVariants and into util classes. Added more generalized methods for retrieving samples. Updated the Beagle walkers to use these methods.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3764 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-12 16:51:54 +00:00
ebanks 0c4a32843c No longer uses VCFRecord
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3763 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-12 13:57:39 +00:00
ebanks f130d29318 No longer uses VCFRecord.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3762 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-12 13:34:10 +00:00
ebanks fb717fe128 First pass needed to remove old VCF code: moving all VCF-related constants into a single unified class
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3759 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-11 07:19:16 +00:00
delangel be75b087ec a) Add input argument (-ncrate) to BeagleOutputToVCFWalker. If the genotype posterior error probability is higher than this threshold, we declare No-call at this genotype.
b) Add "OG" annotation to genotypes. If Beagle changes genotypes, this annotation gets the original genotype call, to ease performance  comparisons. If not, this annotation gets an empty value.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3723 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-06 18:33:28 +00:00
aaron 3347d1ca7c part one of combining format and info header lines code into a single abstract class for Mark; plus some 'm' removals from access methods for Eric. Adding fixes for CombineVariants next.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3719 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-05 05:57:58 +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
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
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 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
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 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
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
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
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???)



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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.



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2010-06-16 02:01:35 +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
sjia 8defb30796 Documentation
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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
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
sjia abdc8521ea Added debug options for FindClosestHLAWalker
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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.
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2010-06-14 16:08:49 +00:00
sjia d8c963c91c Remove PhaselikelihoodsWalker.java
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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
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(..).
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2010-06-10 20:57:23 +00:00
weisburd fdded73861 Improved error reporting
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2010-06-09 17:52:48 +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
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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.



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2010-06-09 17:05:51 +00:00
delangel de134c226d Removed ability of users to specify annotations to recompute, cleanups.
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2010-06-08 19:17:59 +00:00
ebanks 4d1a6b3d99 quick changes for G
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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.



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2010-06-08 15:12:04 +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.
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2010-06-07 00:33:02 +00:00
delangel c503f01dcf More cleanup
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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
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.



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2010-06-04 20:37:25 +00:00
weisburd 3ab936181c Supports the join feature of GenomicAnnotator
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2010-06-02 16:29:57 +00:00
weisburd f5f7217413 Implemented joins
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2010-06-02 16:28:53 +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
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.


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2010-05-28 19:28:26 +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
rpoplin 062b316881 Better Exception message when can't find annotation value in variant recalibrator.
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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.
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2010-05-25 21:08:31 +00:00
weisburd 8db7c97c4d Moved AnnotatorInputTableFeature and Codec to org.broadinstitute.sting.gatk.refdata.features.annotator
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2010-05-24 14:38:54 +00:00
weisburd 4aa749c709 Moved AnnotatorInputTableFeature and Codec to org.broadinstitute.sting.gatk.refdata.features.annotator
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2010-05-24 14:38:07 +00:00
weisburd aca3bcb193 Moved AnnotatorInputTableFeature and Codec to org.broadinstitute.sting.gatk.refdata.features.annotator
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2010-05-24 14:37:17 +00:00
weisburd 64ed770250 Moved AnnotatorInputTableFeature and Codec to org.broadinstitute.sting.gatk.refdata.features.annotator
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2010-05-24 14:36:28 +00:00
depristo a10fca0d5c Genotyper now is using bytes not chars. Passes all tests.
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2010-05-20 21:02:44 +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.
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2010-05-20 14:05:13 +00:00
depristo 5abac5c057 A few more char -> byte cleanups
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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
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2010-05-19 23:27:55 +00:00
weisburd 984c51efd3 Updated to use Tribble-based GATKFeature instead of TabularROD
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2010-05-19 03:42:12 +00:00
weisburd 42ee16f256 Updated to use Tribble-based GATKFeature instead of TabularROD
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2010-05-19 03:41:37 +00:00
weisburd d8469e2fba Updated to use Tribble-based GATKFeature instead of TabularROD
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2010-05-19 03:40:47 +00:00
rpoplin 9e15299475 Misc cleanup in variant recalibrator.
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2010-05-18 17:37:01 +00:00
weisburd 3c022e4b0c Improved command-line-arg validation at startup.
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2010-05-18 02:46:17 +00:00
weisburd 35b4bba35e Refactored so it could be used for knownGene and CCDS as well as refGene
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2010-05-18 02:44:10 +00:00
weisburd bb86c0e03a Improved error message
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2010-05-18 02:43:13 +00:00
kiran 4235164359 Removed the confusionMatrix column (of *course* this is a confusion matrix... what else would it be?!).
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2010-05-14 21:55:37 +00:00
kiran 95b29f608b Specify default values.
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2010-05-14 21:42:53 +00:00
rpoplin 6efd05831b Encapsulating annotation decoding function in order to use same fixed random seed in both VariantOptimizer and ApplyVariantClusters
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3363 348d0f76-0448-11de-a6fe-93d51630548a
2010-05-14 20:03:38 +00:00
depristo 1538dc0144 optimizer now uses -an arguments instead of exclude and force for clarity. command-line length reduced by 50%
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2010-05-14 15:41:44 +00:00
aaron cac98ba5ef a couple of small documentation fixes
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2010-05-12 17:40:27 +00:00
kiran 4a7902bb8e Bases 'A' and 'a' (etc.) no longer considered different.
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2010-05-10 14:53:38 +00:00
kiran b223b04331 Don't list '.' as an alternate allele, dummy!
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2010-05-10 14:51:18 +00:00
kiran 7527f950d1 Computes the quality score distribution per readgroup (one column per readgroup)
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2010-05-10 14:49:38 +00:00
kiran c111c15072 Computes the distribution of insert size per library (for now, one output file per library)
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2010-05-10 14:48:35 +00:00
rpoplin 33a9549896 Variant Optimizer accepts a dbSNP rod arugment to use in determining known/novel status as opposed to using the rsID in the vcf record. VO generates plots of annotation values used in clustering broken out by knowns and novels. Useful for showing which annotations are approximately Gaussian.
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2010-05-09 16:48:07 +00:00
ebanks 18f1d31a22 Moving to and organizing in core.
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2010-05-07 04:05:36 +00:00
aaron a68f3b2e9c VCF moved over to tribble.
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2010-05-05 17:28:48 +00:00
kiran 510b3efcc2 Fixed an issue where asking for the alternate alleles at hom-ref sites would result in an array out-of-bounds exception.
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2010-05-03 18:46:33 +00:00
sjia 94b51de401 HLA caller updated to examine class II loci, updated pointers to dictionary, allele frequencies.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3290 348d0f76-0448-11de-a6fe-93d51630548a
2010-05-03 14:54:52 +00:00
rpoplin 97fdd92e7b Clean up the code to have a unified approach to calculating p(true) for both with and without ti/tv models
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3289 348d0f76-0448-11de-a6fe-93d51630548a
2010-05-03 13:30:20 +00:00
rpoplin 9d01670f62 Major update to the Variant Optimizer. It now performs clustering for both the titv and titv-less models simultaneously, outputting the cluster files at every iteration. It makes use of the Jama matrix library to do full inverse and determinant calculation for the covariance matrix where before it was using only approximations.
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2010-05-02 19:21:23 +00:00
weisburd a318b1871d Removed unused column
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2010-04-30 21:29:34 +00:00
ebanks 850f36aa61 Changes to the Unified Genotyper's arguments:
1. User can specify 4 confidence thresholds: for calling vs. emitting and at standard vs. 'trigger' sites.
2. User can cap the base quality by the read's mapping quality (not done yet).
3. Default confidence threshold is now Q30.



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2010-04-30 16:44:24 +00:00
ebanks 1714c322c2 Reorg of UG args; checking in first before upcoming changes that will break integration tests.
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2010-04-30 14:48:46 +00:00
weisburd ba78d146ec Finished implementing
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2010-04-30 14:14:31 +00:00
weisburd 5d5c7f9d34 Changed short code of stop codon to 'stop'
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2010-04-30 13:55:52 +00:00
aaron 7fbfd34315 adding the GELI ROD validation
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2010-04-29 21:43:00 +00:00
aaron c8d09a29ed some quick changes to the VE output system - more to come.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3253 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-23 21:55:08 +00:00
weisburd 9e28e4eb42 git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3250 348d0f76-0448-11de-a6fe-93d51630548a 2010-04-23 15:50:09 +00:00
weisburd 10bcd72593 1st attempt to implement extra columns
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3249 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-23 15:49:37 +00:00
weisburd a72a5a7b1a Data object for representing a single amino acid
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3248 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-23 15:49:06 +00:00
depristo 3d2c836db6 Bug fix for case sensitivity
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3242 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-23 03:08:58 +00:00
weisburd f0fe2ea530 A simple codon -> AA lookup table
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3239 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-22 12:18:00 +00:00
weisburd e643a9e7a5 Takes a refGene table ( -B arg must be: -B refgene,AnnotatorInfoTable,/path/to/refgene_file.txt) and generates the big table of nucleotides containing annotations for each possible variant at each transcript position (eg. 4 variants for each position).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3238 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-22 12:11:19 +00:00
weisburd 653e08c0b6 Takes a refGene table ( -B arg must be: -B refgene,AnnotatorInfoTable,/path/to/refgene_file.txt) and generates the big table of nucleotides containing annotations for each possible variant at each transcript position (eg. 4 variants for each position).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3237 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-22 12:11:03 +00:00
ebanks e9e844fbf5 1. Reverting: dbsnp automatically is a comp
2. Fixing logic for min Qscore calculation


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3230 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-21 18:51:35 +00:00
aaron 80c4f88a72 removing the Variation interface.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3216 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-20 18:56:45 +00:00
rpoplin f4977965b6 Removing debug statements
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3208 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-20 16:22:40 +00:00
rpoplin 124b7a2a58 Moved ApplyVariantClusters over to VariationContext
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3207 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-20 16:20:25 +00:00
hanna c1e53d407d The copyright tag that I copied/pasted from a LaTeX document into IntelliJ had
unicode quote characters embedded in it.  These characters were invisible inside
IntelliJ but cause compile warnings for Ryan and Aaron, who for whatever reason
have a different default charset.  Fixed.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3203 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-20 15:26:32 +00:00
aaron b5f6f54968 Almost done removing any trace of the old Variation and Genotype interfaces.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3202 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-20 14:52:15 +00:00
hanna 1bc26f69e9 An attempt to cleanup the Utils directory. Email to follow.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3198 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-19 23:00:08 +00:00
ebanks d73c63a99a Redoing the conversion to VariantContext: instead of walkers passing in a ref allele, they pass in the ref context and the adaptors create the allele. This is the right way of doing it.
Also, adding some more useful integration tests.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3194 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-19 05:47:17 +00:00
aaron 131703d9db more clean-up: moving AlleleBalanceInspector to archive.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3192 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-16 20:53:33 +00:00
ebanks 8c32bb8f0a Complete the move over to VariantContext so that we can remove dependence on Variation (in the VCF code)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3190 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-16 19:41:42 +00:00
aaron e11ca74eb5 removing some outdated ROD classes (PooledEMSNPROD and SangerSNPROD), removing an out-of-date interface (VariantBackedByBenotype), and moving AnalyzeAnnotationWalker over to VariationContext.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3188 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-16 18:59:29 +00:00
ebanks f4673efd2f Moving to archive as it's no longer supported
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3182 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-15 22:10:42 +00:00
ebanks e702bea99f Moving VE2 to core; calling it "VariantEval" (one more checkin coming)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3179 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-15 20:25:47 +00:00
ebanks 3330e254a9 Standardize the dbsnp track name in preparation for case-sensitivity
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3176 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-15 19:41:57 +00:00
aaron b54031fc86 adding an experimental format to VariantEval2, which when you source() from R, imports all VE2 output as individual tables with appropriate row and column names. More testing and feedback needed.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3172 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-15 06:09:27 +00:00