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Author SHA1 Message Date
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???)



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
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 
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
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 
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
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
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 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
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
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
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
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
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
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 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.


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 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. 
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
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
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
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 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
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
rpoplin 9e15299475 Misc cleanup in variant recalibrator. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3380 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-18 17:37:01 +00:00
weisburd 3c022e4b0c Improved command-line-arg validation at startup. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3374 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-18 02:46:17 +00:00
weisburd 35b4bba35e Refactored so it could be used for knownGene and CCDS as well as refGene 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3372 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-18 02:44:10 +00:00
weisburd bb86c0e03a Improved error message 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3371 348d0f76-0448-11de-a6fe-93d51630548a
 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?!). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3365 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-14 21:55:37 +00:00
kiran 95b29f608b Specify default values. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3364 348d0f76-0448-11de-a6fe-93d51630548a
 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% 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3361 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-14 15:41:44 +00:00
aaron cac98ba5ef a couple of small documentation fixes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3353 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-12 17:40:27 +00:00
kiran 4a7902bb8e Bases 'A' and 'a' (etc.) no longer considered different. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3339 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-10 14:53:38 +00:00
kiran b223b04331 Don't list '.' as an alternate allele, dummy! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3337 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-10 14:51:18 +00:00
kiran 7527f950d1 Computes the quality score distribution per readgroup (one column per readgroup) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3335 348d0f76-0448-11de-a6fe-93d51630548a
 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) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3334 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3332 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-09 16:48:07 +00:00
ebanks 18f1d31a22 Moving to and organizing in core. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3320 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-07 04:05:36 +00:00
aaron a68f3b2e9c VCF moved over to tribble. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3302 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3292 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3286 348d0f76-0448-11de-a6fe-93d51630548a
 2010-05-02 19:21:23 +00:00
weisburd a318b1871d Removed unused column 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3285 348d0f76-0448-11de-a6fe-93d51630548a
 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.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3281 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3274 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-30 14:48:46 +00:00
weisburd ba78d146ec Finished implementing 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3273 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-30 14:14:31 +00:00
weisburd 5d5c7f9d34 Changed short code of stop codon to 'stop' 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3272 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-30 13:55:52 +00:00
aaron 7fbfd34315 adding the GELI ROD validation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3270 348d0f76-0448-11de-a6fe-93d51630548a
 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
weisburd c0f4695902 Improved handling of haplotypeReference and haplotypeAlternate columns. Added haplotypeStrand column. Improved handling of empty fields in data files. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3166 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-14 14:42:19 +00:00
weisburd 7b8056099c Fixed 'N' reference-base handling, changed some comments, var names 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3162 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-14 14:37:25 +00:00
weisburd d0123956bc Modified comments. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3158 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-13 15:41:59 +00:00
rpoplin f1b1e70612 Bug fix for multisample calls in ApplyVariantClusterWalker 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3142 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-09 12:01:15 +00:00
aaron 9ca8e345fc by-by old junk. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3131 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-07 20:41:48 +00:00
aaron 8fd59c8823 Modified the report system based on Ryan's feedback: tables are now created independently to avoid the permutation problem when they were all compressed in rows, and removed our dependency on FreeMarker. The Grep format stays the same. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3130 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-07 20:39:55 +00:00
rpoplin 7b44e6bd55 ApplyVariantClusters now outputs interesting threshold points based on hitting the target novel TiTv 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3126 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-06 19:47:29 +00:00
weisburd 705b28e90d First attempt at implement record filtering based on special 'hap_ref', 'hap_alt' columns in the input files 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3118 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-02 21:52:26 +00:00
weisburd d78e7f6c0a Added documentation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3117 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-02 21:51:28 +00:00
weisburd 6b7b07f178 First checkin of GenomicAnnotator which annotates an input VCF file by pulling data in a generic way from an arbitrary set of TabularRODs. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3114 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-02 17:49:42 +00:00
rpoplin 642c969896 reverting optimizer changes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3112 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-02 16:59:13 +00:00
aaron 585cc880a2 changed jexl expressions to jexl names in the VariantEval2 output, fixed integration test, and fixed a problem where a line was getting dropped in CSV output 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3108 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-01 16:23:14 +00:00
hanna d00bde22db Reverting one of Brett's changes that should not have been committed. Will 
address with Brett separately.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3107 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-01 16:10:46 +00:00
bthomas b4f6f54502 Reorganizing the way interval arguments are processed 
Most of the changes occur in GenomeAnalysisEngine.java and GenomeLocParser.java: 
-- parseIntervalRegion and parseGenomeLocs combined into parseIntervalArguments
-- initializeIntervals modified
-- some helper functions deprecated for cleanliness
Includes new set of unit tests, GenomeAnalysisEngineTest.java

New restrictions: 
-- all interval arguments are now checked to be on the reference contig
-- all interval files must have one of the following extensions: .picard, .bed, .list, .intervals, .interval_list



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3106 348d0f76-0448-11de-a6fe-93d51630548a
 2010-04-01 12:47:48 +00:00
aaron 3d3d19a6a7 the last-mile commit for Tribble integration. The system is now ready for Tribble to be turned on, as soon as we've removed any dependencies in the ROD code on interfaces that aren't in the Tribble library (i.e. the Variation or Genotype interface on RODs). All of the walkers should be up to date. 
a caveat: for anyone asking for all of the ROD's back from the RefMetaDataTracker (if your not using the facilities to get the track by name), you'll now be getting back a collection of GATKFeature objects.  This object will contain the track name, and a method for getting the underlying object (getUnderlyingObject()), which will be the traditional RodVCF, rodDbSNP, etc.  This layer is needed so we can integrate Tribble tracks (which don't natively have names).  Calls that ask for RODs by name will still get back the traditional reference ordered data objects (RodVCF, rodDbSNP, etc).

Sorry for the inconvenience!  More changes to come, but this is by far the largest (as has the greatest effect on end users).


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3104 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-31 22:39:56 +00:00
rpoplin d58fe70708 Correctly ignore filtered calls and indel calls in the truth sets 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3101 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-31 14:33:01 +00:00
aaron a6e8687d71 implementing a clean way to import the template files into the GATK jar (they should not always get bundled). All further resources should be added to the gatk.resources path id in the build script. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3094 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-30 04:20:19 +00:00
hanna 85037ab13f Fix for Kiran's sharding issue (Invalid GZIP header). General cleanup of 
Picard patch, including move of some of the Picard private classes we use to Picard public.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3087 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-29 03:21:27 +00:00
aaron 074ec77dcc First go of the new output system for VE2. There are three different report types supported right now (Table, Grep, CSV), which can be 
specified with the reportType command line option in VE2.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3083 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-27 03:59:32 +00:00
kiran 85f4f66180 Updated to use VariantContext. Output has been reformatted: variant and genotype concordance are emitted for every coverage level per variant. If the requested sampling level is higher than what's available, the maximum available coverage at that locus is used. This makes it much easier to make plots indicating the percentage of comparison callset recovered at a certain sampling depth. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3082 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-26 21:02:43 +00:00
ebanks 73a14a985b Moving VariantsToVCF to core. 
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 2010-03-26 18:55:12 +00:00
ebanks 14bf6923a8 HapMap-to-VCF now works fine within Variants-to-VCF. Added integration test for it and removed old code. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3077 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-26 18:34:59 +00:00
ebanks 4398a8b370 Updated. Now uses VariantContext and is truly "variants" to vcf (i.e. not just GELI to vcf). 
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 2010-03-25 04:53:31 +00:00
rpoplin 06a212e612 Adding VariantConcordanceROCCurveWalker to create ROC curves comparing concordance between optimized call sets and validation truth sets in VCF format in order to evaluate performance of variant optimizer independently of achieving a particular novel ti/tv ratio. Added option to ignore only the specified filters in the input call sets via --ignore_filter <String>. Added option to provide a prior estimate of error for known snps via --known_prior <qual>. The het and hom calls are clustered independently. Infrastructure in place to use titv of known snps to inform p(true) of novel snps. Tweaked protection against overfitting based on suggestions from several people. Minor edits to AnalyzeAnnotations. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3071 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-24 19:43:10 +00:00
aaron 60dfba997b added some sample annotations to VariantEval2 analysis modules, and some changes to the report system. 
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 2010-03-24 05:40:10 +00:00
aaron 439c34ed38 clean-up before annotating VariantEval2 for output. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3055 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-22 07:39:20 +00:00
hanna b4b4e8d672 For Sarah Calvo: initial implementation of read pair traversal, for BAM files 
sorted by read name.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3052 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-21 23:22:25 +00:00
ebanks 4d4db7fe63 Renaming for consistency 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3049 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-19 18:45:01 +00:00
rpoplin cdec84aa8f Bug fix for variant optimizer. Remember to close the PrintStreams it uses to output the cluster files. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3046 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-19 15:07:32 +00:00
depristo 56092a0fc2 Slight cleanup for mathutils 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3042 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-19 13:18:08 +00:00
depristo b221ce94ce Still being tested trio-aware genotyper that calculates P(de novo) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3041 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-19 13:11:39 +00:00
aaron 8a5f0b746e some cleanup for the output system. 
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 2010-03-18 12:54:39 +00:00
rpoplin c78fc23ec5 Minor updates to output of variant optimizer. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3031 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-18 12:46:47 +00:00
rpoplin 58a31bab6a Variant optimizer now outputs VCF files via ApplyVariantClustersWalker. Documentation to be added to the wiki. It is ready to be used by other people but only with great caution. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3028 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-17 20:41:42 +00:00
rpoplin 1bb4394aa9 Adding a skeleton for the second step of the variant optimization process. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3023 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-17 17:03:40 +00:00
rpoplin 933823c8bc Removed the StingException when mkdir fails for Sendu in AnalyzeCovariates. Incremental updates to VariantOptimizer. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3013 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-16 19:45:02 +00:00
kiran f20f78d77f Don't crash if the tracker is null. Reset the alternate alleles based on the alts present in the subset of samples. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3009 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-16 04:00:04 +00:00
aaron 10e76abbbc adding some VE2 report infrastructure; work-in-progress. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3008 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-16 03:57:42 +00:00
ebanks 6e855809e1 Renaming and moving relevant tools into a sequenom directory 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2971 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-10 02:31:10 +00:00
ebanks 9f3b99c11b Moving UnifiedGenotyper and VariantAnnotator over to VariantContext system. 
Removing obsolete genotyping classes.
First stage of removing dependence on old Genotype class.
More changes to come.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2960 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-09 03:41:07 +00:00
rpoplin fe8a8b9199 Hooked up both optimization models via command line arguments. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2955 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-08 14:49:59 +00:00
rpoplin ca2a0266dc Converting annotation values that are set to Double.Infinity 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2953 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-08 14:04:33 +00:00
rpoplin b42e0a398e Bug fix in variant optimizer for when there are more novel variants than known variants in the callset. Changing the magic numbers related to the starting sigma values for the gaussian clusters. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2952 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-08 13:02:08 +00:00
ebanks 7fa0f77721 add output for number of variants that validated as true 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2942 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-05 18:57:44 +00:00
rpoplin 95d560aa2f More incremental updates to the variant optimizer. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2939 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-05 16:42:42 +00:00
ebanks 9f7ebe1e1c - add name to vcf od field 
- don't do HW calculation if everything is a no-call


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2936 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-05 01:43:01 +00:00
ebanks 9eb122924f misc cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2933 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-04 21:34:13 +00:00
ebanks c20d3e567e Now outputs fully spec-compliant VCF with proper annotations. Emits statistics as to number of good/bad records. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2931 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-04 21:28:17 +00:00
ebanks 0dd65461a1 Various improvements to plink, variant context, and VCF code. 
We almost completely support indels. Not yet done with plink stuff.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2926 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-04 17:58:01 +00:00
rpoplin b241e0915b Incremental update to VariantOptimizer. Refactored parts of the clustering code to make it more clear. More comments. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2922 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-03 20:33:35 +00:00
aaron 790d2a7776 adding the initial ROD for Reads support; more convenience methods in ReadMetaDataTracker to come. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2918 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-03 15:56:44 +00:00
ebanks 5f3c80d9aa 1. To make indel calls, we need to get rid of the SNP-centricity of our code. First step is to have the reference be a String, not a char in the Genotype. Note that this is just a temporary patch until the genotype code is ported over to use VariantContext. 
2. Significant refactoring of Plink code to work in the rods and use VariantContext.  More coming.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2913 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-02 20:26:40 +00:00
rpoplin af6e476df5 Copyright compliant 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2905 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-01 15:29:34 +00:00
rpoplin 3a863d3e8c Initial check in of VariantOptimizer in playground. There is a Gaussian Mixture Model version and a k-Nearest Neighbors version. There is still lots of work to do. Nobody should be using it yet. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2904 348d0f76-0448-11de-a6fe-93d51630548a
 2010-03-01 15:26:18 +00:00
aaron 246fa28386 RODs for reads phase 2: modified RODRecordList to implement List<ReferenceOrderedDatum> so I could stub it out for testing, added a FlashBackIterator which is needed to prevent the ResourcePool from opening infinity+1 iterators, and some other interfaces to make unit testing much smoother. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2892 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-25 22:48:55 +00:00
aaron fef1154fc8 starting on RODs for Reads: made RODRecordList implement list<RODatum> (so we can sub in fake lists during testing), and removed unnecessary generic-ness. Removed BrokenRODSimulator, which isn't being used. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2884 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-24 22:11:53 +00:00
kshakir 3738b76320 Added a playground concordance analyzer for summarizing VariantEval across a group. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2867 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-22 20:28:52 +00:00
rpoplin 32e5dceef9 Moving comments. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2865 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-22 19:27:31 +00:00
jmaguire 81313d9452 added class VCFMerge 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2840 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-15 14:41:50 +00:00
jmaguire 0ef50bcae7 - update to match recent changes in the VCF parser 
- compute Het Error Rate in VCFConcordance
- changes to the frequency-specific optimizer




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2839 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-15 14:27:01 +00:00
chartl 04a2784bf7 Initial commit of tools under development for data QC through firehose. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2834 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-12 19:13:24 +00:00
rpoplin ecebf0bc62 Bug fix for null pointer exception in AnalyzeAnnotations if -name argument isn't specified 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2828 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-11 18:39:26 +00:00
mmelgar ad608d0e9d Cleaned up documentation on SecondaryBaseTransitionTableWalker and added Read Group and Allele Balance to the info. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2827 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-11 17:20:35 +00:00
andrewk 369cc50802 Added playground walker that does a basic concordance check between two VCF files - an eval and a truth file - across all samples in the eval file. Produces per-sample, per-locus debug info and simple concordance stats. This is not meant to be extended, but rather used for validating the HapMap to VCF conversion in preparation for retiring GFF-based HapMap data. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2813 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-09 02:41:18 +00:00
depristo c6d86da4b8 almost managed to move things around perfectly in move go 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2788 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-05 14:18:26 +00:00
depristo 69132c81aa Documentation. Plus nicer structure to adaptors. Intermediate checkin before move into core 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2783 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-05 13:33:27 +00:00
depristo 1d86dd7fd1 Interface changes following Matt's advice. VariantContexts are now immutable, and there are special mutable versions, in case you need to change things. AttributedObject now a InferredGeneticContext and package protected. VariantContexts are now named, which makes them easier to use with the rod system 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2780 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-04 20:55:49 +00:00
rpoplin 210c4c9913 AnalyzeAnnotations now makes plots for the value in the QUAL column as if it were an annotation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2771 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-03 20:33:15 +00:00
hanna 9dbdfff786 Moved VariantEval to core. Updated integration test md5s to reflect new Analysis class names. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2762 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-02 00:22:15 +00:00
chartl 2c4f709f6f Bunch of oneoff stuff that I don't want to lose. Also: 
VCFRecord - "." dbsnp-ID entries now taken into account (thought these were represented as null; but I guess not)
VCFGenotypeRecord - added a replaceFormat option; since intersecting Broad/BC call sets required genotype formats also be intersected (no changing on-the-fly)
VCFCombine - altered doc to instruct user to give complete priority list (was throwing exception if not)




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2760 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-01 21:35:10 +00:00
ebanks 506d39f751 The UG calculations are now driven by an independent engine. 
This completely separates the genotyper walker from other walkers.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2758 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-01 20:57:31 +00:00
ebanks e0808e6c37 Moved old EM model to archive 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2754 348d0f76-0448-11de-a6fe-93d51630548a
 2010-02-01 02:55:32 +00:00
ebanks f6da57dc79 1. For Matt: JIRA GSA-270. Other walkers needing to call into the Unified Genotyper now use static methods (e.g. runGenotyper()) instead of calling initialize and map. 
2. Set the default confidence cutoff to 50 (instead of 0).



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2752 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-31 21:14:57 +00:00
depristo 3d45457595 VariantEval2 test framework implemented; Kiran is experimenting with the system. Not for use by anyone else. VariantContext appears to work well; I'll release it next week for general use following docs of the functions. Removing newvarianteval and other classes to avoid any future confusion. Update to TraverseLoci and RodLocusView to simplify a few functions and to correct some minor errors. All tests pass without modification. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2748 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-30 20:51:24 +00:00
chartl 97f60dbc4b Moving stuff around. ( core;playground ) ----> ( oneoffs ). I've been a bad boy, sullying the core codebase. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2745 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-29 22:50:03 +00:00
rpoplin 16da5011c0 Added a new option for indicating the mean number of variants on the AnalyzeAnnotations plots. This way one can say, for example, filtering at this point will keep 75 percent of all the variants. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2744 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-29 21:58:31 +00:00
rpoplin c6cc844e55 Added -name argument to AnalyzeAnnotations that allows one to specify the name of the annotation to be used on the plots. Instead of seeing AB and DP, one can add -name AB,AlleleBalance -name DP,Depth 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2742 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-29 20:48:53 +00:00