Commit Graph

2217 Commits (73acfa654a3eb3d7e21e91945739fb8d1ab0452e)

Author SHA1 Message Date
ebanks 7a291a8ff3 First pass at a VCF validator. Will test more tonight.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4524 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-19 19:55:49 +00:00
ebanks 5251f49a90 Including Marian Thieme's BaseCounts class (with some modifications)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4522 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-19 03:07:30 +00:00
hanna c5f105d050 Fix boneheaded mistake in the new interval filtering code I added on Sunday.
Sorry everyone.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4521 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-19 01:20:12 +00:00
hanna 6af9532090 Fix for GATK slowdowns at the ends of intervals.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4514 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-17 23:21:23 +00:00
chartl 2bc5971ca1 Added - a tool to fix reference bases of a VCF. The OMNI had a couple of sites with incorrect reference bases (look to be legacy from other chips), and a few more that had ref and alt flipped. GAP should probably take care of it, but since I need results by monday, I'm doing it.
Modified - SelectVariants: Hook up to VariantContextUtils to recalculate AC/AF/AN, which uses the accessor in VariantContext to do this. Somehow sites that were selected down to hom-ref genotypes only wound up getting positive AC. 

**IMPORTANT** I kind of need input here. The header of a file used for an integration test specifies AC as being an integer. Recalculating it casts it into an integer list (which it should be, as it allows for alternate alleles). However this appears to clash with what the jexl expression is looking for? For now, the integration test itself needed to be changed -- it's unclear what to do when the header specifies AC of being one class, but recalculating it casts to another class, and I'm not sure what to do.

I'm committing my omni_qc pipeline because I'm almost certain 2 months down the road I'm going to wonder what the heck I did to generate my results.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4511 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-17 03:18:01 +00:00
ebanks 7aa030a9a4 Hmm. Apparently variants can get lifted over to different chromosomes. Who knew? Reverting changes from a couple of days ago. The only way to do this correctly (without requiring lots of memory) is to turn off on-the-fly indexing for this walker. Integration tests cover this now.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4510 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-17 02:54:12 +00:00
chartl 8b2d387643 Added in an eval module that calculates the dispersion histograms between eval and comp (e.g. M_{i,j} = # of times eval observed to have AC i, comp AC j -- for af it's i/100 vs j/100 )
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4507 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 19:07:43 +00:00
chartl c9d473edee More changes to Variant Eval and Genotype Concordance (passes all integration tests):
1: -sample can now include a file, which will be parsed for sample-name entries
2: If you request a sample to run analysis on, but it is not present in any of your RODs, VEW will exception out
3: Change added to parse Integer, String, and List<Integer> type Allele Count annotations (error otherwise)
4 [slightly problematic]: The count objects now maintain row-keys in order, as the keys were taking an inordinate amount of time in onTraversalDone (multiple calls to getRowKeys(), so many multiple sorts of the same underlying unsorted object, very bad)

There is a legacy comparison object which is unused which I will strip out soon.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4502 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 12:40:36 +00:00
ebanks 9f54170dff Hooking up the liftover tool to the new on-the-fly sorting VCF writer so that records can now get emitted in order.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4499 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 07:27:01 +00:00
chartl 4ac636e288 Minor change: when tabulating concordance by AC, ignore sites with multiple segregating alleles in the population, at least for now
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4493 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-14 01:35:33 +00:00
chartl 7c9ef59d65 This is simultaneously a minor and major change to VariantEval, so take heed:
The core walker has been modified so that when variant contexts (eval and comp) are subset to command-line-specified sample(s), the chromosome count annotations (AC/AN/AF) are altered to reflect the AC/AN/AF of only those samples involved in the comparison. No more getting AC500 when you're comparing a 10-sample overlap. Interestingly enough, this didn't break any integration tests.

GenotypeConcordance now has two additional tables: Allele Count Statistics, and Allele Count Summary Statistics. These work exactly identically to the Sample Statistics and Sample Summary Statistics tables, except that the partition being used is no longer the sample, but instead the allele count of the variant sites. These tables stratify by both eval and comp ACs, e.g.

evalAC0
evalAC1
evalAC2
compAC0
compAC1
compAC2

Differences with previous integration tests were verified to only be in the Allele Count tables (by grepping them out of the diff); a new test has been added for the simple case of an AC=1 site in the eval becoming an AC=2 site in the comp.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4491 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-13 22:26:15 +00:00
depristo da29fcdb68 No longer writes the index to disk twice. But fixes for closing VCFWriters throughout the codebase
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4488 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-13 14:26:06 +00:00
aaron 28a1020c89 comment out debugging line that was clogging the performance test output.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4487 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-13 03:26:55 +00:00
aaron 272ac2ae4a more fixes for tests broken by indexing-on-the-fly; I think this should do it.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4486 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-13 01:54:32 +00:00
hanna ed39af53cd Fix for exception when trying to load reference segment for a read that aligns
to 0 bases.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4485 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 23:50:51 +00:00
ebanks fe9f128631 Better fix for earlier bug.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4484 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 19:21:33 +00:00
aaron ff0df1a2da A fix for an integration test that was broken by on-the-fly indexing. Also, better reporting of Tribble exceptions in GATK integration tests. Trying to get the tests back up and running...
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4483 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 18:39:56 +00:00
ebanks 69652e08c6 Bug fix for reads that completely fall within an insertion: the I cigar string element was 1 base too long.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4482 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 14:46:21 +00:00
kiran f348ca2976 Now processes VCF files with repeated loci without crashing.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4481 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 04:36:07 +00:00
hanna 7008a469dc Update MalformedReadFilter to pass reads that have cigar strings like 40S36I
that have 0 aligned bases in the genome.  We'll have to fix walkers as faults
appear.

Also added JIRA GSA-406: finer-grained control of MalformedReadFilter: want
to exception out by default in these cases but pass them with a warning with
a corresponding -U flag.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4476 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-11 03:01:04 +00:00
rpoplin 0a4cf02a52 Fix for index out of bounds exception in VR.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4473 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-10 17:35:15 +00:00
depristo 116309b3c3 More test cases for UG integration test. We currently fail doing multi-threaded gzip output, FYI
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4472 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 20:22:12 +00:00
depristo 38a67fed63 High performance version of standard vcf writer. New general static Tribble class for common constants, including general .idx constant and functions to get standard index name for a given file.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4471 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 19:53:21 +00:00
fromer bdd3a9752e Changed min MQ and BQ to 20 (for phasing)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4469 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 19:27:45 +00:00
asivache 4f2f33b42a fix method invocation to conform to new API; this version of the code will compile but new functionality is still not fully in
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4466 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 15:30:26 +00:00
asivache 39e373af6e deleting accidentally committed junk
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4464 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 15:13:01 +00:00
asivache b3d81984aa renaming MergingIterator to RODMergingIterator as it is more appropriate for this specialized implementation
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4462 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 14:10:11 +00:00
chartl 21ec44339d Somewhat major update. Changes:
- ProduceBeagleInputWalker
 + Now takes a validation ROD and a prior to give it, will use those genotypes in place of the variant genotypes if both are present
 + Takes a bootstrap argument -- can use some given %age of the validation sites
 + Optionally takes a bootstrap output argument -- re-prints the validation VCF, filtering those sites used as part of the bootstrap
-BeagleOutputToVCFWalker
 + Now filters sites where the genotypes have been reverted to hom ref
 + Now calls in to the new VCUtils to calculate AC/AN

-Queue
 + New pipeline libraries for easy qscript creation, still a work in progress, but this is a considerable prototype
 + full calling pipeline v2 uses the above libraries
 + minor changes to some of my own scripts
 + no more need for contig interval lists, these will be parsed out of your normal interval list when it is provided



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4459 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 13:30:28 +00:00
ebanks 97b153f2fa Quick fix
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4457 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 06:10:52 +00:00
ebanks acd238f3f2 For Chris: pull out the chromosome counting code into VCUtils so that other tools can make use of it. Transitioned SelectVariants over to use it.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4456 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 04:37:54 +00:00
rpoplin 0de658534d Removed the qScale arguments in VariantRecalibrator. It is smarter about how it tries to find a cut so the arbitrary scale factor hopefully is no longer necessary. Now the recalibrated variant quality score more accurately reflects our believed lod of the call.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4451 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-07 18:04:57 +00:00
fromer ee00dcb79d 1. Phasing now ignores bases without minimum base quality (BQ) and minimum mapping quality (MQ); 2. The probability of a non-called base is now divided by 3, to evenly split up the error probability over the non-called bases
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4450 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-07 17:40:59 +00:00
fromer f8f1cc45a3 Now ReadBackedPhasing caps Base Quality by Mapping Quality
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4445 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 20:48:57 +00:00
scalvo bda427f078 Change specification of AnnotationInputTable, and fix 2 bugs.
Previous output spec contained 3 columns:
 haplotypeReference,haplotypeAlternate,haplotypeStrand
where haplotypeReference was always on the + strand, and haplotypeAlternate was on the strand specified by haplotypeStrand.

The new specification contains 3 columns:
 haplotypeReference,haplotypeAlternate,transcriptStrand
where haplotypeRef and haplotypeAlt are required to be on the + strand.  transcriptStrand now specifies the strand of the transcript, which is needed for interpreting the haplotypes.

Bugfix #1: fix incorrect assignment of variantCodon and variantAA
(Previously variantCodon was incorrectly set to referenceCodon)

Bugfix #2: fix incorrect codingCoordStr values for - strands (bug reported by Giulio Genovese), and incorrect usage of "m." for mitochondrial transcripts (bug reported by Steve Hershman)



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4444 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 20:46:09 +00:00
scalvo b5c127e643 Removed HAPLOTYPE_STRAND_COLUMN; Previously, GenomicAnnotation allowed a user to specify the strand of the haplotypeAlternate, and would reverseComplement the haplotypeAlternate if HAPLOTYPE_STRAND_COLUMN was "-". The new specification does not allow this functionality, and instead requires both the reference and the alternate haplotypes to be on the + strand (as in VCF format).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4443 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 20:37:41 +00:00
depristo 00491fcd2e Only see not writing GATK Run Report if you are running with debug enabled
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4437 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 14:09:21 +00:00
rpoplin 69485d6a7a Added command line argument for the max value of the allele count prior in VariantRecalibrator (--max_ac_prior). Default value increased to 0.99 from 0.95.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4436 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 14:00:53 +00:00
ebanks b5e148140b Officially fixed the UG priors; updated the default min MQ/BQs to pipeline values of q20 and min calling threshold to Q50
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4431 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-05 18:35:36 +00:00
fromer c6668bd49c Fixed bug in phasing, where mapping probability was incorrectly raised to the power of number of non-null bases [instead, it is just multiplied into phasing probability once]
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4430 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-05 17:07:31 +00:00
hanna 250c18e679 Error message fixes for the following issues:
nvjpM4yOwQAu3fNGxi4oXLuVpKn6aAlf,1GL0OuXK2xKQfvbu34tWYgbojSVSLo0l,
ehEGBJOfgc4V7qj8W0Homf5ICuVK5Sm3,cZsreLm1CbY3aYKZhV7DOSvQNwur41zp,
GlrlyGEyP9kJDIRCQNFQp7BGJBXSzdDJ,hyz1uiHXr39ANmdZu9K1epOSX8EL3mDw,
q0n4EucZESCI4LZhQik306zD4VAuH2cb.  

Messages:
camrhG5tHzlY9WUSEVpVZGkU1tyJqKb5,s0OX2g7nYRctJxyFoQCa6clac9IsjHyi,
THIAtjllvYNlnTmiMnJEIHd2Ju4gqQIO,jwVk3JYZJNHloW7HO4LeGxFexknqro0v,
BFNRGOGmGGJNNPZqgeF1ikTNFfskbyLc,...

Were fixed in 4392.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4428 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-05 03:37:13 +00:00
ebanks aa00801108 remove reference to -mrl
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4423 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 17:27:01 +00:00
chartl f978c25b9d Perhaps both, Eric. Perhaps both.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4422 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 13:56:04 +00:00
chartl 0eb777612a Swap "." over to VCFConstants.MISSING_DEPTH_v3
Why v3, you ask? Why not? Simply because v2 was a String so old and clunky, the sun would fizzle out and grow cold before any VCF could be successfully parsed.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4421 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 13:41:41 +00:00
chartl 74087c44ae Fixed a bug which caused a parsing exception when there was a variant with a dp field of ".", e.g. "GT:DP 0/1:." -- which can happen when using imputation.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4420 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 12:37:36 +00:00
ebanks 6448753cf7 Removed the SequenomValidationConvertor and renamed it VariantValidationAssessor since it no longer handles ped/sequenom files (but instead works on vcfs/variantcontexts). Updated all of the wiki docs, including adding instructions on how to convert ped files to vcf, a la Shaun Purcell. We now officially no longer support ped files everyone. Other misc cleanup in the code.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4419 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 02:11:38 +00:00
ebanks 490e5e1b0f Better error when bad ref bases are provided
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4414 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-03 05:40:37 +00:00
aaron 64b7b3f83b fix for a recent change to the indexing code where we ignore the results of locking the file (this is bad), and as a result don't write the index; this should fix the build.
Off to Yosemite in 4 hours, enjoy the week gsa folks!



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4410 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-02 04:35:11 +00:00
depristo 7551ba8249 Trival refactoring in preparation for on-the-fly indexing
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4409 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 22:32:59 +00:00
rpoplin 2f7892601c Useful debugging argument added to VariantRecalibrator to only use sites whose qual field is above --qual
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4406 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 21:08:55 +00:00
hanna 575c38fc04 Accidental fail to commit missing file.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4405 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 20:26:51 +00:00
hanna 8d25a5f9f2 A mechanism for supplying attribution text -- mainly useful for external
walkers.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4402 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 18:31:19 +00:00
rpoplin b83fdf8a17 Bug fix in AnalyzeAnnotations. Be sure the site is a biallelic, unfiltered SNP.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4400 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 13:09:46 +00:00
delangel ece694d0af Next iteration on new UG framework:
- Brought over exact AF estimation from branch (which is now dead). Exact model is default in UnifiedGenotyperV2.
- Implemented completely new genotyping algorithm given best AF estimate using dynamic programming, which in theory should be better than both greedy search and any HWE-based genotyper.
- Integrated and added new Dindel likelihood estimation model.
- Corrected annotators that would call readBasePileup: since we can be annotating extended events, best way is to interrogate context for kind of pileup and either readBasePileup or readExtendedEventPileup.

All changes above except last one are still in playground since they require more testing.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4396 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 21:33:59 +00:00
hanna 14e19f4605 (Slightly) better exception text when SAM/BAM output file can't be created.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4392 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 18:43:22 +00:00
hanna 1fb8c86f6d Looks like we've got two competing models for an empty interval list: null and
the empty list.  Score another victory for the integration tests.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4391 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 17:11:47 +00:00
hanna 78343be52c At some time in the recent past, we lost our ability to process the '-L all'
argument.  Brought it back, and added an integrationtest to make sure it
stays around.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4390 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 15:58:43 +00:00
delangel e80742e72f Use -o as argument for output file in ProduceBeagleInputWalker, to be consistent with other walkers (you're welcome, chartl :)).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4386 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 22:46:39 +00:00
hanna 732aa32758 Every Sting app from now on will be forced into the US English locale.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4385 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 21:55:21 +00:00
fromer 20ffe484bc Added detection and INFO field marking of phasing inconsistencies (and optional filtration using --filterInconsistentSites)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4384 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 19:28:56 +00:00
rpoplin a6c7de95c8 By using the AC info field instead of parsing the genotypes we cut 78% off the runtime of VariantRecalibrator. There is a new argument to force the parsing of genotypes if necessary. Various other optimizations throughout.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4383 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 18:56:50 +00:00
hanna eee134baf2 Chris found a bug in the downsampler where, if the number of reads entering
the pileup at the next alignment start is large, we don't add as many of those
incoming reads as we should.  No integration tests were affected.

Thanks, Chris!


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2010-09-29 11:18:12 +00:00
fromer e322e71c2f Restored SVN history for phasing
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2010-09-29 00:02:02 +00:00
fromer 720aaca8a0 Trying to restore SVN history for phasing
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2010-09-28 23:50:28 +00:00
fromer bf88117ead Trying to restore SVN history for phasing directory
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2010-09-28 23:48:24 +00:00
fromer 7c909bef82 Moved phasing classes out of playground! The code is still under production, though...
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2010-09-28 23:21:28 +00:00
fromer 8d8980e8eb Fixed phasing algorithm to: 1. More correctly weed out irrelevant reads and sites; 2. Crudely flag sites with large phase discrepancies betweens reads
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2010-09-28 23:02:53 +00:00
chartl 862c94c8ce Small change for Matt -- output partition types in lexicographic order.
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2010-09-28 20:08:03 +00:00
ebanks 7ad87d328d Make sure to uppercase ref bases since they aren't coming from the engine
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2010-09-28 19:05:46 +00:00
bthomas 96cccafb0d Adding a few helper methods for accessing sample metadata, and associated unit tests. These are motivated by discussion with Ryan about how he'll use sample metadata in VariantEvalwalker - hopefully will make it easier for him. Methods are:
-- getToolkit().subContextFromSampleProperty(): filters a VariantContext to genotypes that come from samples that have a given property value
-- getToolkit().getSamplesWithProperty(): gets all samples with a given property
-- getToolkit().getSamplesFromVariantContext(): sample objects that are referenced by name in a VariantContext



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2010-09-28 02:16:25 +00:00
ebanks 1034853a84 Adding 'solexa' to list of known/supported platforms
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2010-09-27 02:38:38 +00:00
aaron 70f03a7113 first pass of well-formatted tribble exceptions
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2010-09-25 03:29:33 +00:00
kshakir edaa278edd Removed cases where various toolkit functions were accessing GenomeAnalysisEngine.instance.
This will allow other programs like Queue to reuse the functionality.

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2010-09-25 02:49:30 +00:00
hanna 497bcbcbb7 Recent changes to the build system make the build system complain loudly about
pieces of core that depend on playground.  Most of these have been eliminated by
(temporarily) promoting Aaron's report system to core in this checkin.  I'll 
follow up with other changes in separately.


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2010-09-24 22:09:12 +00:00
hanna 6ebca5d219 Enhancements to build external projects for walker sharing.
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2010-09-24 21:17:16 +00:00
corin eb1fa4bff3 changes an argument to an output so I can use it to track dependencies in queue
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2010-09-24 21:07:09 +00:00
rpoplin 1931b2e1bd Three fixes for VariantFiltrationWalker: Trying to filter an empty VCF file will produce a well-formed VCF file with zero records instead of a blank file, needed for pipelines. The first record's genotype info fields are now in the same order as all the others. The VCF header lines are pulled from just the input variant rod instead of from all rods.
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2010-09-24 13:52:56 +00:00
kshakir 4ed9f437e9 Sliced the GAE in half like a gordian knot to avoid the constant merge conflicts.
The GAE half has all the walker specific code.  The new "Abstract" GAE has the rest of the logic.
More refactoring to come, with the end goal of having a tool that other java analysis programs (Queue, etc.) can use to read in genomic data.

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2010-09-23 23:28:55 +00:00
rpoplin 0c9fabb06f Fix in AnalyzeAnnotations, somebody changed it look for ID in the vc's info field. This dinosaur desperately needs integration tests.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4338 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-23 19:48:44 +00:00
hanna 0c781968fb Tried to do a bit of pre-commit refactoring and screwed it up. Fixed.
Thanks to Ryan for identifying the problem.


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2010-09-23 18:17:29 +00:00
depristo d081b9b352 Improvements to error messages about @Requires and @Allows
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2010-09-23 12:08:27 +00:00
fromer 44ccfc3531 Updated Phasing algorithm + evaluation module to properly implement haplotypes [including homozygous genotypes]; Implemented dynamic window phasing model for LARGE increase in efficiency
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2010-09-22 21:29:58 +00:00
hanna 8f75d88519 Fix for GATK run report ids:
mOVsxGfDiiSMxVs2PPTVjzYTVbizlD6e
  f9kUHUADFsZ0LiTGxRL5zPmq9kZcA4cQ
  8eGHWJFAlBVmgxwPi3sMd1RmiN2PwHOf
  iLhvHWveypKb2F8vKS5irHylc3pYvlOb
  HDttXKUMEVoPrvVeWrH7E0htxYyNydMx
plus a bit of cleanup of custom exceptions in the sharding system.


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2010-09-22 19:49:25 +00:00
kshakir 20b38b38f3 Updated from SnakeYAML 1.6 to 1.7.
Added a pipeline java bean and YAML utility to serialize java beans.
Added a getFirehosePipelineYaml.sh that can pull firehose data into the pipeline yaml file format.
Updated the fullCallingPipeline.q to begin using the pipeline yaml file format for bams and reference.
More changes to come as this code gets tested out in the fullCallingPipeline.

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2010-09-22 19:47:49 +00:00
hanna 0c99c97685 The engine now automatically adds the command-line arguments to the header of every VCF, unless -NO_HEADER is specified.
Changed integration tests, adding the -NO_HEADER argument, for walkers that previously did not include the command-line
arg headers.


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2010-09-22 15:27:58 +00:00
depristo 522830fb01 Support for --assume-single-sample in UG, better malformated bam exceptions, and ignoring out of order contigs in seqdictutils. All for the CG bam file
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2010-09-21 20:33:34 +00:00
aaron b968af5db5 The tribble indexes are now updated with correct sequence lengths for each contig they have in their sequence dictionary. Also clean-up in the RMD track builder.
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2010-09-21 18:21:22 +00:00
rpoplin 547763b230 Better error message for Petr's null pointer exception. Also added an exception integration test because I'm certain this used to work.
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2010-09-21 13:44:40 +00:00
depristo 8719dde59d Now prints out PASS when a variant is unfiltered
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2010-09-21 13:16:41 +00:00
delangel 205fc0b636 Cleanup: Use Tribble's version of createVariantContextWithPaddedAlleles (no real functional difference) to avoid duplicated code.
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2010-09-20 19:53:30 +00:00
ebanks f5a30d0248 I just spoke to Andrey & Kiran (the original authors of these tools), and they voted to kill these in favor of Picard
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2010-09-20 13:27:35 +00:00
delangel f64b6fddc1 Major changes/improvements to indel genotyper:
a) Redid way to compute path metrics in indel error model. Paper formulation where we have an anchor point in the alignemt between read and haplotype won't work in practice except in nice data sets that are perfectly indel-realigned and that are well mapped by aligner. New formulation doesn't assume this, and it's actually simpler and uses less code. It now resembles more a classic SW dynamic programming formulation but it still preserves the HMM probabilistic formulation. 
b) Added a programmable call threshold, set by command line.
c) Use now sample name from BAM file, remove -sampleName argument.
d) Simplify loop to compute read-haplotype likelihoods.



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2010-09-19 23:47:31 +00:00
rpoplin c6351a11d6 Clearer logger output when not using by-hapmap
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2010-09-18 16:10:42 +00:00
rpoplin 7e58d8ed61 CombineVariants now outputs the command line in the VCF header. Added a new hidden argument to VR walkers called --NoByHapMapValidationStatus to turn off the by-hapmap dbsnp rod behavior. Very useful for experimenting with which sets to use as training data.
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2010-09-18 16:06:50 +00:00
bthomas c6c6d32b46 Quickly adding a new convenience method for retreiving a group of samples. The method is getSamples(Collection<String>) and returns a set of sample objects. There's also a test there.
Ryan is using this to modify VCF code today...



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2010-09-17 15:55:17 +00:00
kshakir a898908918 The output BAM file optional arguments of compression and whether to write an index are not outputs themselves.
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2010-09-17 15:35:54 +00:00
bthomas bc12055fcf Quick patch to fix the sample code. It wasn't actually initializing the sample data source, so I added a call to initializeSampleDataSource() in GenomeAnalysisEngine. I think there was just an error resolving the versions of GenomeAnalysisEngine
Also added a new error message that I thought would be helpful...



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2010-09-17 14:05:26 +00:00
ebanks a10b2a00a5 Moving the util VariantContext 'modifying' routines into VC itself (as opposed to VCUtils) so that we can pass the genotype data directly into it and are no longer forced to decode the genotypes for no reason. This means that any walker that takes in a VCF and modifies the records without touching the genotypes never have to decode them. I've hooked this into the other two Variant Recalibrator walkers for Ryan. One side effect, though, is that we no longer can sort the sample names in the VCF (i.e. if the input VCF doesn't have samples in alphabetical order, then we used to sort them when writing a new VCF but no longer do that), because if we don't decode then we can't re-order the genotypes. I don't think this is a big concern given that the Unified Genotyper does emit sorted samples and that's the main source for most of the VCFs we use.
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2010-09-17 07:09:58 +00:00
bthomas f66ef4626e Fixing two minor issues: 1) adding a new error message if the user adds a fasta file in a directory that doesn't exist; 2) renaming my sample unit tests so they actually run.
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2010-09-16 20:45:51 +00:00
rpoplin 2eb5d9b2d2 CountCovariates makes sure that it sees a rod type that it expects for use as a variant mask (accepted types are dbsnp, vcf, and bed)
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2010-09-16 18:53:42 +00:00
aaron 782e0018e4 removal of most of the old GATK ROD system; also a fix for -Dsingle so we can again run just a single unit or integration test (single tests in tribble can be run with the -DsingleTest option now). More to come.
*** Three integration tests had to change: ***

RecalibarationWalkersIntegrationTest:
One of the tests was using the interval as the snp track, and wasn't supplying a DbSNP track (for CountCovariates)

SequenomValidationConverterIntegrationTest:
relies on Plink ROD which we've removed.  

PileupWalkerIntegrationTest: 
we no longer have implicit interval tracks, so there isn't a rod name over the specified region.  Otherwise the same result.

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2010-09-15 22:54:49 +00:00
delangel c604ed9440 Several improvements to new indel genotyper (more to come soon):
a) Turns out previous change of centering haplotype around indel was a bad idea. Context to the left of indel is important but not as important as right one, because by definition all alleles start at the same location, so haplotype is the same to the left of indel regardless of allele. So, go back to having a constant size window to the left of event.
b) Expand reference context so we can test larger haplotypes.
c) Optimize computation of read likelihoods by doing them in linear array instead of in a matrix - no difference in biallelic sites but could be significantly faster in multiallelic sites.
d) Bug fix: read alignment wasn't being computed correctly if, a) we were at an insertion, b) read started right at the insertion, c) read CIGAR didn't include insertion - more of these corner conditions are lurking, so a revamped computation of how reads align to candidate haplotypes is in the works.
e) Add debug option not to use prior haplotype likelihoods.
f) Don't hard-code NA12878 for genotyping, now sample name is a required input argument.
g) Bug fix: if there are no reads covering a candidate indel event, just output NO_CALL (didn't notice this in HiSeq, but in P1 data it happens all the time). I need to add a confidence threshold for calling later on.






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2010-09-15 21:53:08 +00:00
depristo fb6d7d19f9 Better window size error message
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2010-09-15 20:40:56 +00:00
rpoplin b5d2e299d2 Make it more clear what is going on with the by-hapmap validation status in the dbSNP rod
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2010-09-15 17:29:31 +00:00
rpoplin 0a06fbdb94 Adding header lines to output of VR walkers to settle validator warnings. Command lines are added to the VCF header. GATK version numbers will be added to the header lines by Matt.
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2010-09-15 16:45:03 +00:00
asivache d7b5baf8e5 Now uses tagging of -I arguments. Multiple -I options (merging) is now allowed. In somatic mode 'tumor' and 'normal' tags are required for each input bam, the order does not matter anymore (since we use tags!)
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2010-09-15 13:58:51 +00:00
bthomas e5f81d25d4 Adding the --sample-metadata (-SM) command line argument and associated functionality. This is something Matt and I have been working on for a while. Basically, it allows you to integrate sample metadata into an analysis, by including a sample file. More detailed documentation is on the wiki: http://www.broadinstitute.org/gsa/wiki/index.php/Adding_Sample_data_to_an_analysis
This commit adds two important classes: Sample, which contains data about one sample; and SampleDataSource, which manages sample data a la ReferenceDataSource and ReadsDataSource. 

This code should be stable, but it has not been integrated with existing walkers yet. That's the next commit. 

In the meantime, feel free to experiment with the code - there are two basic example walkers in the playground.sample package. And PLEASE let me know if you see any errors/inconsistencies.

Note that this also adds a new dependency on SnakeYaml, a YAML parser.



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2010-09-15 11:50:22 +00:00
ebanks dd23f204ab Making the UG args that allow users to proceed with insufficient bam headers (no SM or PL tags) @Hidden; removed them from wiki.
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2010-09-15 01:54:50 +00:00
ebanks 514b28210e Have VF write to sdout when no -o is supplied
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2010-09-15 01:48:33 +00:00
depristo 74d4f124b1 Bug fixes to allow us to generate GATKRunReports for very early errors that leave the engine in a corrupt state. Vastly better error handling of common command line problems. Analysis output now notes whether an exception is a a UserException or a StingException
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2010-09-14 22:45:15 +00:00
delangel 6d07181dc9 When processing Beagle output and creating new vcf, output the filtered records in the original input vcf as is, so that we don't lose the information on them when we run Beagle.
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2010-09-14 19:18:45 +00:00
depristo dbb641280e CycleCovariate now tolerates SOLEXA as machine type. Also, exception handling is now written to stderr.
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2010-09-14 12:35:57 +00:00
ebanks 71d2d69b41 Better error message
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2010-09-14 05:04:26 +00:00
depristo fa3be2209f Improvements to the error display code to print out the SVN number in all messages. Fixes to CallableLoci and tests to check for that case
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2010-09-13 18:36:45 +00:00
depristo 7880863eb7 Final step in error refactoring. GATK exception is now ReviewedStingException, indicating that this exception is really what one wants. Only use this exception when you have thought about StingException vs. UserException and made a real decision.
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2010-09-12 15:07:38 +00:00
depristo 7ad8fbdd5a Moved GATKException to exceptions
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2010-09-12 14:47:19 +00:00
depristo 595907e98e Moving StingException
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2010-09-12 14:34:15 +00:00
depristo 40e6179911 Penultimate step in exception system overhaul. UserError is now UserException. This class should be used for all communication with the USER for problems with their inputs. Engine now validates sequence dictionaries for compatibility, detecting not only lack of overlap but now inconsistent headers (b36 ref with v37 BAM, for example) as well as ref / bam order inconsistency. New -U option to allow users to tolerate dangerous seq dict issues. WalkerTest system now supports testing for exceptions (see email and wiki for docs). Tests for vcf and bam vs. ref incompatibility. Waiting on Tribble seq dict improvements to detect b36 VCF with b37 ref (currently cannot tell this is wrong.
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2010-09-12 14:02:43 +00:00
delangel da2e879bbc Miscellaneous improvements to indel genotyper:
- Add a simple calculation model for Pr(R|H) that doesn't rely on Dindel's HMM model. MUCH faster, at a cost of slightly worse performance since we're more sensitive to bad reads coming from sequencing artifacts (add -simple to command line to activate).
- Add debug option to calculation model so that we can optionally output useful info on current read being evaluated. (add -debugout to commandline).
- Small performance improvement: instead of evaluating haplotype to the right of indel (just with a 5 base addition to the left), it seems better to center the indel and to add context evenly around event.




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2010-09-12 13:50:28 +00:00
ebanks 61d511f601 Small memory performance improvement: remove the mapping from the hash instead of setting the value to null (i.e. remove the key too)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4256 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-12 05:19:09 +00:00
ebanks a0231f073f Damnit. Enabling the Picard code to recalculate all of the relevant SAMRecord attribute tags means that I need to have reference bases over all read bases even after realignment (and there are some big indels in dbsnp). Fortunately, I have my trusty IndexedFastaSequenceFile reader handy! Re-enabling the previously broken performance test.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4255 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-12 05:06:37 +00:00
hanna 87aca64716 Jumped the gun a bit on bam on-the-fly indexing -- Tim says it's not ready yet.
Turned it off by default and added a property to turn it back on.


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2010-09-10 21:16:03 +00:00
rpoplin 7b113a4886 Truncate the floating point numbers coming out of the variant recalibration walkers. Integration tests now work with both 1.6.0_16-b01 and 1.6.0_21-b06
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2010-09-10 18:37:49 +00:00
depristo 8f1a32acae All exceptions thrown by the GATK have been reviewed and UserErrors replaced where appropriate. Shazam. Another check-in will remove the GATKException and restore the StingException.
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2010-09-10 15:25:30 +00:00
rpoplin 61e848c4f0 It's clear from Sendu's calling and my own calling that -qScale 100.0 is a much better default value for low pass data.
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2010-09-10 01:47:21 +00:00
depristo 1de713f354 Massive review of maybe 50% of the exceptions in the GATK. GATKException is a tmp. tracker so that I can tell which StingExceptions I've reviewed. Please don't use it. If you are working on new code and are considering throwing exceptions, it's either UserError or StingException, please
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2010-09-09 23:21:17 +00:00
aaron f5c295b6b2 add a little bit of documentation to the RMD track builder and wrap any exceptions thrown in tribble with the file source and line that caused the error.
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2010-09-09 17:56:36 +00:00
rpoplin aeb897db7f VR walkers look at by-hapmap validation status by default. Eric will be updating the syntax to allow for more flexibility here.
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2010-09-09 15:40:56 +00:00
depristo 6a30617a60 Initial implementation of UserError exceptions and error message overhaul. UserErrors and their subclasses UserError.MalFormedBam for example should be used when the GATK detects errors on part of the user. The output for errors is now much clearer and hopefully will reduce GS posts. Please start using UserError and its subclasses in your code. I've replace some, but not all, of the StingExceptions in the GATK with UserError where appropriate.
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2010-09-09 11:32:20 +00:00
hanna 5119bdb55e - Update DoC to support output to /dev/null.
- Add a release sanity check for DoC.
- Update release sanity checks with new command-line argument system.


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2010-09-08 23:43:18 +00:00
fromer ce031b2f05 PhasingEvaluator prints out interesting sites (only 1 phased, or phases disagree)
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2010-09-08 18:21:21 +00:00
ebanks 40283f6456 Success! TranscriptToGenomicInfo now works without the delicate hacks that Ben had put in.
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2010-09-08 18:06:00 +00:00
ebanks cd091d7309 This walker can NOT be tree-reducible (in its current state). Given that it's meant to be run just once for any given transcript set, this is not at all a problem.
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2010-09-08 16:47:51 +00:00
ebanks ae9cba1c73 After an epic battle with this code until 3am last night, I have discovered that it is tragically and fatally busted. Ben clearly didn't understand how the ROD system works when writing it and so it is unusable in its current state. I've ripped out all code and it now gracefully exits telling the user that we are actively working on a replacement for this tool. Sigh.
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2010-09-08 16:39:41 +00:00
ebanks 29f7b1e6d6 Trivial update
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2010-09-08 14:02:38 +00:00
ebanks cd2bfb09ef Change for Tim: invalidate the MD tag (temporarily) if it exists in a read that gets realigned
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2010-09-08 13:59:09 +00:00
ebanks 65edbced36 Addition for Tim: recalculate the NM and UQ tags after realignment. Also, don't fix the insert size calculation, since that's done by fix mate information.
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2010-09-08 04:02:14 +00:00
chartl 71046e650e Added a more robust check for Jishu -- am pretty sure the .bam header is busticated
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2010-09-08 01:11:22 +00:00
fromer ae3f7026a4 Corrected phasing quality evaluation to correctly account for hom sites that break phase
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2010-09-07 22:43:54 +00:00
hanna 501f6a0e14 Temporary hack to disable index creation when target BAM is /dev/null. Tim
promises me that Picard will put in a real solution next week.


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2010-09-07 16:57:51 +00:00
fromer 754c2c761e Added minimum phasing quality for phasing evaluation
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4219 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-07 14:29:11 +00:00
ebanks 5d0d9c7dce My parallel version of TranscriptToInfo now emits 'chr start end' instead of 'chr:start-end' for records so that 1) they can be easily sorted in coordinate order (allowing me to emit records out of order if I choose) and 2) the file can be tabix indexed (when we stop finding 'critical' bugs in that code).
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2010-09-07 05:20:40 +00:00
ebanks 4d4ef5b42c In the end, it's not worth rewriting TranscriptToInfo from scratch. I'm keeping the old one around for a bit so I can play with this new version which 1. doesn't store the records in memory so can be run in under 1Gb of memory, 2. actually emits all of the records (the original fails in some cases), and 3. is refactored to cut out ~20% of the code.
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2010-09-06 02:37:34 +00:00
kiran 0dd5a0990d Now annotates sites marked as filtered out (this is important if sites are in a lower-quality tranche).
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2010-09-04 00:36:55 +00:00
depristo 7eeabe534a QSample walker for 1KG -- measures aggregate quality of sequencing. Includes misc. improvements throughtout the code, including using the new Tribble GenotypeLikelihoods class for working with VCF GLs from the UG
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2010-09-03 18:21:43 +00:00
rpoplin e3962c0d13 VR integration tests are longer but much more useful.
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2010-09-03 15:50:19 +00:00
hanna da11efa1a2 Automatically write BAM file indices for coordinate-sorted BAMs.
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2010-09-03 14:10:44 +00:00
fromer 529eecd4dc Added phasing sub-directory to keep walkers directory clean
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2010-09-03 13:38:46 +00:00
fromer c0ce9ca8cc Added phasing sub-directory to keep walkers directory clean
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2010-09-03 13:32:30 +00:00
rpoplin 60003aeaca Bug fix in VariantRecalibrator. Only add sample names from the input rod bindings, not from all rod bindings.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4206 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-03 13:31:49 +00:00
depristo 3c9597d45a OnTraversalDone writes output to out now
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2010-09-03 12:55:03 +00:00
depristo 73d41bfa24 CountLoci nows writes out to a file for Queue status tracking. VariantAnnotatorEngine has a special group None that doesn't add any annotations; useful for those who are testing UG performance
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2010-09-03 12:52:33 +00:00
hanna 70bb480939 The battle is over. Picard is revved.
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2010-09-03 05:28:01 +00:00
ebanks fdaac4aa78 As the VCF guru, I'll take this one for Andrey. Someone has actually found a deletion at the beginning of the chromosome. Instead of failing with an ArrayIndexOutOfBoundsException, just don't try to print out the record. Our VCF writer doesn't really support this case (yet).
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2010-09-03 03:27:43 +00:00
ebanks c45ffcdaed Changing documentation (temporarily) to warn people that -U is not supported.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4198 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-03 03:18:07 +00:00
delangel 8a7f5aba4b First more or less sort of functional framework for statistical Indel error caller. Current implementation computes Pr(read|haplotype) based on Dindel's error model. A simple walker that takes an existing vcf, generates haplotypes around calls and computes genotype likelihoods is used to test this as first example. No attempt yet to use prior information on indel AF, nor to use multi-sample caller abilities.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4197 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-03 00:25:34 +00:00
fromer a1cf3398a5 Added basic version of phasing evaluation: GenotypePhasingEvaluator
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4196 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-02 22:09:50 +00:00
rpoplin 0bb05fb472 Bug fix in VariantRecalibrator. Only add sample names from the input rod bindings, not from all rod bindings.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4194 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-02 21:12:09 +00:00
chartl 3a4844ebde Additional partition types into DepthOfCoverage:
- Sequencing Center
- Platform
- Sample by Center
- Sample by Platform
- Sample by Platform by Center <---- needed for analysis I'm doing

The fact that the latter three needed their own partition types, rather than being dictatable from the command line, combined with the new hierarchical traversal types, and new output formatting engine, suggest that DepthOfCoverageV3 is about ready to be retired in favor of a newer, sleeker version.

For now, this will do.
 


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2010-09-02 19:30:03 +00:00
chartl 590bb50d16 Test for missing read group
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2010-09-02 14:22:13 +00:00
rpoplin b28f63a948 Base recalibrator now uses -o and deprecates -outputBam
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2010-09-01 22:13:50 +00:00
depristo 995cfe34fe You can have an error so early that some engine fields are uninitialized. Commit protects RunReport from these errors
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2010-09-01 19:00:25 +00:00
rpoplin a975db2c2e Bug fix for the case of reads with no read bases!
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2010-09-01 16:58:54 +00:00
rpoplin 469bbaa240 Added more integration tests for the variant quality score recalibrator
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4181 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 15:31:24 +00:00
rpoplin 5b94c926c8 More precise language.
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2010-08-31 21:44:22 +00:00
rpoplin 96040726ac Better exception text for the common error of providing only dbsnp but giving dbsnp sites zero clustering weight.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4177 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 21:36:43 +00:00
depristo 32c6b48106 Proper memory metrics in the file. Please use -et if at all possible
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2010-08-31 20:30:09 +00:00
aaron db4ff7317f allowing empty RMD files (we need to not validate their sequence dictionaries against the reference in this case)
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2010-08-31 17:45:33 +00:00
ebanks 3d6c4fc55f Removing the obsolete --hapmap and --hapmap_chip options
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2010-08-31 16:57:05 +00:00
depristo b33873206a GATKRunReport now has an ID (random 32 char string) that uniquely identifies the JOB run and can be used to find a run in the run repository
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4171 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 16:18:57 +00:00
ebanks 3c956110f3 Fixing up the VCFWriter storage code: instead of assuming all samples are coming from the input bam file (they're not), just use the original VCF header for writing the temporary thread files. Now parallelization in e.g. the Genomic Annotator works.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4168 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 02:16:07 +00:00
aaron 69d92fab4f adding the ability to get iterators from Tribble without having an index, and updating the Tabix code to the latest Samtools SVN version (this still doesn't fix the outstanding tabix bugs, waiting for Heng on that).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4167 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-30 21:49:23 +00:00
chartl e64d1be475 Check if VC is null before trying to subset it (can happen with indels)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4165 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-30 20:43:37 +00:00
depristo 1ddb5d17c9 hostname now fully qualified and working
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4163 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 17:04:37 +00:00
depristo 4c28fc3a39 Clear documentation for GATKRunReport
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4161 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 15:59:25 +00:00
ebanks df76474b34 Proper filtering when indels are being lifted over
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2010-08-29 04:48:31 +00:00
depristo 3fd2392090 Improved interface to getting command line options. Now fully traverses all objects to get all internal argument collections. Preliminary (but disabled version) of phoning home (see -et argument for more information). Captures correct and erroring out runs and writes out gzipped, xml report with lots of useful information. Needs a bit more information but is approximately working. Reports going to /humgen/gsa-hpprojects/GATK/reports/ in submitted directory that will be collated by some external tool. Only operating if -et STANDARD or -et STDOUT are provided currently and REPORT_DIR contains a file called ENABLE. WalkerTest now adds -et NO_ET to tests to avoid populating the reports with tests.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4155 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-28 22:53:32 +00:00
rpoplin 9c3f403307 Add the calculated lod value to the info field of each recalibrated VCF record.
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2010-08-27 21:33:58 +00:00
rpoplin 54355b1864 In variant quality score recalibrator Preserve the definition of known and novel to be presence in dbSNP or not even when training with 1KG project calls.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4151 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 19:07:59 +00:00
ebanks 7a5f297083 actually modify the vcf when a sample has been down-sampled
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4150 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 19:03:21 +00:00
ebanks 9860db64a3 Fix up liftover to enable lifting over indels
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2010-08-27 17:55:27 +00:00
hanna fb177c4fee If only dcov is specified, assume that selected downsample type is BY_SAMPLE.
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2010-08-27 17:35:41 +00:00
ebanks 9584cbc05e UG now downsamples to 250x by default
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4146 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 16:53:15 +00:00
ebanks 431392330e Re-enable the max records in ram argument, which I accidentally removed
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2010-08-27 16:42:49 +00:00
hanna de5ccfb0b1 Moved hasPileupBeenDownsampled() based on Eric's request. Also eliminated
@Deprecated constructors from AlignmentContext.


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2010-08-27 16:12:05 +00:00
ebanks 427a2f85e9 The Indel Realigner now lets the engine do all of the setup for args affecting the SAM writer. Thanks, Matt!
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2010-08-27 15:19:47 +00:00
asivache a3d9d23b0f Now prints het genotype with GQ=0 for each indel; in two-sample (normal-tumor) mode, prints both genotypes (N and T) as hets for germline events or hom ref for N and het for T for somatic events (all genotypes still have GQ=0)
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2010-08-27 15:06:42 +00:00
ebanks dda84a0e54 Re-enabling indels for the Genomic Annotator as per Steve's patch. Steve assures me that he will test this out really well.
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2010-08-27 15:01:25 +00:00
hanna 6f4af47aac setMaxRecordsInRam now a member of StingSAMFileWriter.
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2010-08-27 14:50:41 +00:00
ebanks 4979dcc9a7 Finishing up the playground cleanup (for now)
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2010-08-27 01:19:37 +00:00
ebanks 0452b1ab68 archiving, removing, or promoting to core from playground
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2010-08-27 01:07:42 +00:00
hanna d773b3264b Eliminated -mrl option.
Eliminated -fmq0 option.
Eliminated read group hallucination.


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2010-08-26 21:38:03 +00:00
depristo f384d4a5d6 A java reimplementation of vcf2table in python; supports getting more useful information about genotypes (HET, e.g.) than was possible in python.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4130 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 17:50:33 +00:00
asivache 1e193e4c20 prinring '\n' at the end of line leads to some aesthetical advantages
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2010-08-26 16:29:42 +00:00
asivache 9b3ffa5f64 Now outputs VCF (as standard output associated with -o)! Can also outptut, in parallel, a lightweight bed and fully annotated .txt (old verbose format) with --bed and --verbose, respectively
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2010-08-26 16:26:03 +00:00
ebanks dfae48cee0 Moving supported tools to core
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2010-08-26 13:56:19 +00:00
ebanks 45d895dcf4 Remove the check in the Unified Genotyper for hitting the max reads at locus value. Instead, simply add a flag to the INFO field if any of the samples has been downsampled. 95% hooked up.
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2010-08-26 05:50:47 +00:00
ebanks 79cd716671 More cleanup of the Genomic Annotator. Also, we now require join tables to have unique entries for the column keyed on the join.
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2010-08-26 04:43:52 +00:00
rpoplin ac58eb3cbb Slightly better error message for the common error of only providing a dbsnp track but giving it zero clustering weight.
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2010-08-25 18:41:21 +00:00
rpoplin 5623e01602 GenerateVariantClusters and VariantRecalibrator now uses hapmap and 1kg ROD bindings (in addition to dbsnp) to distinguish between knowns and novels. It no longer looks at by-hapmap validation status so providing hapmap is highly recommended. Example on the wiki. Input variants tracks now must start with input.
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2010-08-25 18:33:40 +00:00
asivache 14198b74d5 Can now compute av. qualities and stddevs per cycle for both original (when present in bam) and recalibrated quals
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2010-08-25 17:14:58 +00:00
asivache 23dbaa68e6 Can design assays when multiple (distinct) events occur at the same locus (one assay per event)
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2010-08-25 16:52:47 +00:00
ebanks b4baa3eb8f Cleanup. INDELS model is now disconnected (and renamed 'DINDEL' in preparation for adding plumbing for Guillermo soon)
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2010-08-25 14:52:51 +00:00
hanna 3dc78855fd Command-line argument tagging is in, and the ROD system is hacked slightly to support the new syntax
(-B:name,type file) as well as the old syntax.  Also, a bonus feature: BAMs can now be tagged at the
command-line, which should allow us to get rid of some of the hackier calls in GenomeAnalysisEngine.


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2010-08-25 03:47:57 +00:00
rpoplin 7bbd67f3c4 Fixing stray comments.
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2010-08-24 20:19:39 +00:00
rpoplin 85007ffa87 Some clean up for the variant recalibrator. Now uses @Input and @Output so that it can join the Queue party. Users now specify a -o, -clusterFile, -tranchesFile, and -reportDatFile. Example on the wiki. ApplyVariantCuts now has an integration test. Base quality recalibrator now requires a dbsnp rod or vcf file. Now that the base quality recalibrator is using @Output the PrintStream shouldn't be closed in OnTraversalDone.
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2010-08-24 20:14:58 +00:00
delangel f2b138d975 Small refactoring: make Haplotype a public class since it will be soon extended and shared with other callers.
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2010-08-24 17:52:36 +00:00
ebanks 43f1fb2380 Okay, finally done with VCF compression. Now:
1. Uses blocked gzip compression.
2. No more -bzip option available (since we can't compress to sdout).
3. Only file extensions that are compressed are .gz and .gzip.
4. No more need for CompressedVCFWriter.java



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2010-08-24 16:36:54 +00:00
ebanks 25fb53e7a2 Oops, forgot to call toLowerCase().
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2010-08-24 14:43:24 +00:00
ebanks 7957b60768 We now automatically compress the output VCF if the file suffix is one of the supported types (.gz, .bz, .bz2). You can still specify -bzip if you want to use another file suffix (or pipe it to sdout for some reason).
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2010-08-24 14:39:59 +00:00
ebanks 44f3c5639a I have finally figured out that when you volunteer to do something in group meeting, you keep getting pestered about it on Mark's Omniplan doc until it gets done (except for contig aliasing, of course). As such...
We can now emit bzipped VCFs from the GATK.

Details: any walker that defines a VCFWriter for its @Output (i.e. pretty much every core walker from UG and on), also has associated with it the -bzip (--bzip_compression) boolean argument.  When set, it will emit a VCF that is compressed with bzip2.



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2010-08-24 04:14:50 +00:00
hanna 691333f75c Force isRequired() to be false for @Deprecated args.
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2010-08-23 23:50:30 +00:00
hanna 5d6a6420a9 New behavior for filling it output streams: if required==true for a field and the field
is an output stream, we'll automatically create it and point it to stdout.  Otherwise, 
we'll leave it empty.  
I think about it like this: marking a field 'required' indicates to the GATK that the 
walker author requires a value for this field, and if the GATK can provide one without 
end user intervention, it will.  Maybe this is hackish.  We'll try it and see.


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2010-08-23 23:39:13 +00:00
ebanks 90aef66ec5 Minor fixes for my last commit
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2010-08-23 23:25:29 +00:00
ebanks ef795825fd Yet more argument consistency updates
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2010-08-23 20:52:30 +00:00
aaron 7474afa7a3 allow other objects access to the static method that resolves bam lists, and some renaming and improved documentation for the function.
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2010-08-23 18:52:00 +00:00
ebanks ccda4f6ec1 More output consistency changes (updating wiki docs as I go along).
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2010-08-23 18:46:08 +00:00
ebanks c9c6ff49c2 Deprecated 'O' in favor of 'o' in the cleaner
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2010-08-23 18:09:24 +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.
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2010-08-23 17:49:37 +00:00
aaron 35b9883dd6 vcfwriter is in tribble now
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2010-08-23 17:01:04 +00:00
aaron 2d3b6d89dc adding the ability in Tribble to create indexes from a stream of features, so that we can create multiple indexes from one pass of the file. In the GATK we now create multiple indexes, and choose the
most appropriate based on feature density, and the longest feature in the file.  Also:

- Converted Tribble to TestNG; it has better features and is about 6x faster.
- As much code clean-up as I could get done.  More to do, especially in the example code.
- Moved asserts in the code to throw exceptions.
- Added getBinSize to the index interface; both indexes already implemented this.
- Removed the abstract parts of the indexCreator interface; this is now more simple.
- Added an IndexType enumeration; might be overkill but it is at least a single point of entry for index information.



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2010-08-23 06:54:59 +00:00
hanna c177801d81 Add deprecated command-line arguments, and switched over UG to output to
-o/--out instead of -varout.  Let's watch as our intrepid support engineer
gracefully responds to all the incoming questions of the form: "the GATK told
me to use -o instead of -varout.  What do I do?"


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2010-08-22 21:01:44 +00:00
hanna b80cf7d1d9 Modifications to the output system for better interaction with @Output. Multiplexed arguments. More details in the Monday meeting.
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2010-08-22 14:27:05 +00:00
ebanks 30a104228a Don't require entropy reduction when cleaning only at known sites; instead we need to trust the known indels. This will improve consistency between lane-level and aggregated cleaning.
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2010-08-22 02:44:38 +00:00
kiran 121b4f23b6 Simple change to allow a list of samples or regular expressions to be provided in a text file (one line per sample).
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2010-08-21 00:01:48 +00:00
ebanks 2ef2f1b24a Fix UG's simple indel calculation model so that deletions are created correctly
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2010-08-20 15:35:47 +00:00
aaron 63ada20da5 allow RefSeq files to optionally contain the header line, which is the default output from the UCSC table browser
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2010-08-19 20:25:37 +00:00
aaron 04e5b28f6d updates for VCF; we can no longer cache genotypes or alleles in a static array, this is bad for sharred memory parallel runs. One instance per codec was better for performance than using ThreadLocal code.
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2010-08-19 19:34:44 +00:00
corin 8054b6b295 Changing a name of a column for variantevals output for easier reading by R--let me know if this needs to be updated elsewhere; it's just a space to an underscore.
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2010-08-19 19:18:16 +00:00
ebanks 4b94f8c21b Silly me, I forgot to check for the contig boundaries. Thank goodness for performance tests!
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2010-08-19 18:40:26 +00:00
ebanks 1ec305cd15 Fix for running the cleaner at the lane-level for known indels only: instead of relying on the reads to get the reference sequence, we now use an IndexedFastaSequenceFile in all cases and pad the reference with bases on either end. This allows us to deal with cases in which we are trying to clean just a single deletion-containing read with tiny LOD (so the read needs to be pushed off the seen reference; @Reference doesn't yet work for Read Walkers) and has the added benefit of allowing us now to get much larger known indels that aren't completely covered with reads.
Thanks to Matt for the advice.

Also, for Guillermo: while I was at it, I changed the .stats debug output to emit the original interval instead of the cleaned region.



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2010-08-19 11:31:13 +00:00
ebanks 98f7679619 Fixed the bug reported on GS regarding a clipped read that got moved several hundred bases away. The code that got triggered here was written back in the original version of the cleaner and it never actually did the right thing.
While I was fixing it, I noticed that we weren't allowing the cleaner to un-clean reads with indels when they're wrong even though we should.  Hypothetically, that should rarely happen: only when we can left-align out an indel or when the original mapper really went haywire.  This situation is rare enough that I'm calling logger.info to let the user know it's happening and suggesting that they double-check that everything looks right with their reads.  Better to be extra-cautious now that the cleaner is moving into the 1kg and Broad production pipelines soon
.
Mark, have no fear: this was truly a rare edge case - one that won't affect the cleaning stats.  There is no need to re-clean the data processing paper bams!



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2010-08-19 01:42:48 +00:00
rpoplin 8f15b2ba72 Memory optimization for the VariantRecalibrator. Only add variants to the list if they pass the novelty and qual filters.
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2010-08-17 21:57:28 +00:00
aaron c1df293feb remove testing code from tribble track builder, set the command line program in walker test to null to reclaim memory in integration tests, and removed some orphaned intergration tests.
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2010-08-16 23:52:01 +00:00
rpoplin 578e7fa36d Don't output -0 as qual value in VariantRecalibrator.
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2010-08-16 16:47:58 +00:00
depristo 20db00a3e8 Lazy reference loading; the engine doesn't fetch the reference bases until you actually call ref.getBases(). With the new hidden --dontUpdateUG to table recalibrator this is 2-3x faster than before. Enabled for locus, read, and rod walkers.
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2010-08-16 13:46:22 +00:00
aaron 9ab647b730 adding checks to the RefSeq rod for line's that contain less than the required number of columns (we expect there to be 16 columns)
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2010-08-16 13:34:32 +00:00
aaron b23545fafa re-enable the check for up-to-date versions in the Tribble index.
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2010-08-16 12:47:58 +00:00
ebanks 37586d3a43 Don't exception out when bad aligners emit wonky alignments; instead, just don't clean
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2010-08-16 02:36:04 +00:00
depristo a36951f11a @output and @input arguments for table recalibration for use with Q
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2010-08-14 18:36:28 +00:00
depristo 61064d7075 GenotypeConcordance log file -- if provided, GC module will write FN/FP information to this file by context
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2010-08-14 18:35:57 +00:00
depristo 0d209d5442 Nicer printing out of clustering
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2010-08-14 16:02:13 +00:00
kshakir 307c8ca027 Created a new playground script for cleaning bams in Firehose.
Some refactoring of Queue extensions for reusability in scripts.
Putting the extensions into the Queue.jar after building them.
More updates to GATK walker arguments specifying @Input and @Output for Queue.

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2010-08-13 23:52:24 +00:00
rpoplin 222f61df87 Bug fix for damoskow in TableRecalibration. Shouldn't try to update the reference mismatch rate tag for an unmapped read.
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2010-08-13 18:57:07 +00:00
kshakir 80a70ccf03 Repopulating rodsToSamples. Code reviewed by Eric.
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2010-08-13 17:07:18 +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.


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2010-08-13 16:33:22 +00:00
ebanks f874e548aa Shame on us. FlagStat used ints instead of longs, so we ended up getting negative read counts
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2010-08-13 03:00:57 +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.


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2010-08-11 21:58:26 +00:00
hanna 41d57b7139 Massive cleanup of read filtering.
- Eliminate reduncancy of filter application.
- Track filter metrics per-shard to facitate per merging.
- Flatten counting iterator hierarchy for easier debugging.
- Rename Reads class to ReadProperties and track it outside of the Sting iterators.
Note: because shards are currently tied so closely to reads and not the merged triplet of <reads,ref,RODs>, the metrics
classes are managed by the SAMDataSource when they should be managed by something more general.  For now, we're hacking
the reads data source to manage the metrics; in the future, something more general should manage the metrics classes.


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2010-08-11 20:17:11 +00:00
aaron 14e492fa80 fix for a problem in readNextRecord() of BFS, where we'd go looking for the next record far into in the next contig because (f.getEnd() >= start) was never true once we cycled to a new conitg. Added a check for contig identity. Also, removed duplicate HW calculation classes in the GATK and Tribble.
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2010-08-11 17:01:38 +00:00
flannick cd4cd6db81 Added option to print out discordant sites in GenotypeConcordance
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2010-08-10 19:55:19 +00:00
flannick 18fc5c8c3e Initial implementation of annotator to compute allele balance for each sample
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2010-08-10 19:40:17 +00:00
flannick 1dc373b9d0 Initial implementation of evaluator to compute popgen theta statistics
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2010-08-10 19:36:34 +00:00
aaron 0a8ebcb4f9 moving tests over from the GATK to Tribble, and added a speed-up to the readNextRecord() that Mark suggested. Also removed the contained flag from the queries to Tribble in the GATK.
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2010-08-10 17:54:59 +00:00
ebanks 3ff6e3404e Alleles are now returned in a consistent order, so we can deal with tri-allelic sites
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2010-08-10 15:21:10 +00:00
ebanks ca5b274f16 Unit, integration, and performance tests are all busted, so this is a good time to make a big commit...
Major cleanup of the genotype writer code from the calling end.  UG no longer supports making calls in anything but VCF, and that allows us to use the VCFWriter more generically now.  Putting the ball in Matt's court to finish collapsing everything.



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2010-08-10 04:18:29 +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.
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2010-08-10 02:16:05 +00:00
depristo 2a4a4b0aab VariantRecalibrator now calls plot_Tranches directly so it works on the farm
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2010-08-09 23:17:16 +00:00
depristo c2c0c1f57c Removing used --enable_overlap_filters argument; Eric assures me this won't break the currently broken tests
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2010-08-09 22:27:13 +00:00
aaron 0f29f2ae3f fixes for the Tree index, and some small clean-up in the GATK.
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2010-08-09 20:41:50 +00:00
rpoplin 3eee3183fd Checking in the tiger team changes. LOD calculation modified. -qScale is back in case people need it.
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2010-08-09 20:41:03 +00:00
ebanks 0eeb659aa3 Useful utility function to print out the Allele as a String since toString prints out * for refs. It was annoying to keep seeing new String(Allele.getBases()).
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2010-08-09 20:35:56 +00:00
depristo 8944800f60 Minor refactoring for Ryan
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2010-08-09 18:05:23 +00:00
kshakir 4f51a02dea Changed logging level to default at INFO instead of WARN.
Changes to StingUtils command line for use in Queue, replacing Queue's use of property files.
Updates to walkers used in existing QScripts to add @Input/@Output.
RMD used in @Required/@Allows now has a new default equal to "any" type.
New QueueGATKExtensions.jar generator for auto wrapping walkers as Queue CommandLineFunctions.
Added hooks to modify the functions that perform the Scattering and Gathering (setting their jar files, other arguments, etc.)
Removed dependency on BroadCore by porting LSF job submitter to scala.
Ivy now pulls down module dependencies from maven.


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2010-08-09 16:42:48 +00:00
aaron 30178c05c5 providing a way to specify how you'd like -BTI combined with your -L options; set BTIMR to either UNION (default) or INTERSECTION.
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2010-08-09 14:00:52 +00:00
hanna 6b4a1e3b9f Reenabling code that was commented out after it was confirmed to work by many participating in this thread:
http://getsatisfaction.com/gsa/topics/error_thrown_when_reading_reference_file


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2010-08-09 00:12:09 +00:00
kiran 48e311a5ea Added copyright notice.
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2010-08-08 07:11:51 +00:00
kiran 758ab428f5 Better logging info for the samples being selected and the sample expressions being ignored.
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2010-08-08 07:03:37 +00:00
ebanks 637a1e5055 Updating to use the new VA interface
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2010-08-08 05:31:01 +00:00
ebanks bd6d5a8d51 Adding command-line header to VA and VF
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2010-08-08 05:21:15 +00:00
kiran 64446f0ddf Avoid NaNs in the final output.
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2010-08-08 05:16:52 +00:00
ebanks 3f6e44dc71 Updated recalibrator and cleaner to output full command-lines in the bam header
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2010-08-08 04:39:18 +00:00
kiran 0da0dfa1da Cosmetic change - lower-case for all command-line arguments' short names.
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2010-08-08 04:12:01 +00:00
kiran eb1bb94d1c Moved the evaluation of the JEXL expressions to a point *after* the samples are subset and the INFO-field annotations are updated. I think this makes more sense than having the evaluations happen beforehand, since it seems jarring to have the JEXL expressions operate on the annotations before they're updated, and have the file contain the annotations after they're updated. Now, selecting on something like allele frequency will actually apply to the annotations that actually end up in the file, while selection on other annotations (which are carried over without modification) will act exactly the same regardless.
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2010-08-08 04:09:02 +00:00
ebanks 594b7912f1 Added a generic method for returning the complete command-line used when calling a walker, to be used in the bam/vcf headers. As requested, every possible engine/walker argument is included. I've added it to the Unified Genotyper output, so people can try it out and let me know what they think. Something that needs to be discussed in group meeting: what happens when we merge VCFs? Do we keep all of the command-lines?
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2010-08-08 03:53:07 +00:00
kiran 6e389059cf An improved version of VariantSubset and VariantSelect, meant to replace those walkers. Takes in a VCF and creates a subsetted VCF by sample(s), JEXL expressions, or both.
When subsetting by sample, the -SN argument is treated as a literal sample name and, if no match is found, as a regular expression.  This allows for a large number of samples to be selected at once (useful when, for instance, cases are given one sample name prefix and controls are given another).

After the subsetting procedure, the INFO-field annotations AC, AN, AF, and DP are all recalculated to properly reflect the new contents of the VCF.



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2010-08-08 02:57:06 +00:00
ebanks ac4699a650 Re-enabling this test
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2010-08-06 20:20:37 +00:00
depristo f275041b1c -minimalVCF for CombineVariants. Work around for broken locking code.
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2010-08-06 16:10:59 +00:00
ebanks 341e752c6c 1) AlleleBalance is no longer a standard annotation, but the Allelic Depth (AD) is for each sample.
2) Small fixes in the VCFWriter:
a) Trailing missing values weren't being removed if their count was > 1 (e.g. ".,.")
b) We were handling key values that were Lists, but not Arrays.  We now handle both.



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2010-08-06 12:05:14 +00:00
aaron c68625f055 Fixes from Mark for the MutableContexts; this fixes the clearGenotypes() and the clearFilters() methods, and adds a method to clear the attributes. Also added is a method for creating a variant context where the attribute list is pruned to a specific subset, which can be null.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3955 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 22:39:51 +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.



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2010-08-05 18:47:53 +00:00
rpoplin a8d37da10b Checking in everyone's changes to the variant recalibrator. We now calculate the variant quality score as a LOD score between the true and false hypothesis. Allele Count prior is changed to be (1 - 0.5^ac). Known prior breaks out HapMap sites
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2010-08-05 14:12:19 +00:00
ebanks 07addf1187 Fix for Kiran: since the Variant Annotator will re-annotate on top of existing annotations it makes sense to remove old headers if they conflict with the definitions being added by VA.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3951 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 06:44:39 +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.
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2010-08-05 04:45:47 +00:00
ebanks 227c4b10f0 Bug fix for Chris: convert comp tracks to VC so that we can respect the filter field. Added an integration test to cover this.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3949 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 04:13:16 +00:00
ebanks 84ca2f27bb Bug fix for Chris: added method createPotentiallyInvalidGenomeLoc() to the GenomeLocParser that doesn't check that the contig exists in the sequence dictionary. This is crucial for lifting over from one reference to another, as sometimes contigs names change in the liftover (e.g. chrM to MT).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3948 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 03:19:02 +00:00
ebanks f247cbf68e I want to be the first to use the new super-cool Hidden annotation! No more telling people not to use the cleaner debugging options.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3947 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 02:44:37 +00:00
hanna 78bfe6ac48 Added @Hidden annotation, a way to deliberately exclude experimental fields and
walkers from the help system.


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2010-08-05 02:26:46 +00:00
chartl 82d6c5073b A simple read strand filter for potluri on get satisfaction
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2010-08-04 23:23:50 +00:00
ebanks 8d8acc9fae Moving G's MyHapScore to replace the old HapScore
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2010-08-04 21:00:54 +00:00
ebanks 7858ffec32 Spit out the error in the warning message so that Sendu can tell me what his problem is
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3942 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-04 20:40:28 +00:00
delangel 86211b74e8 Bug fix: when padding alleles in creating a Variant context from an indel, leave no-call alleles as no-call alleles.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3940 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-04 19:51:10 +00:00
hanna f13d52e427 Attempt to determine whether underlying filesystem supports file locking and
disable on-the-fly dict and fai generation.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3938 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-04 19:28:27 +00:00
delangel e6e8a20a1e 1) Fix MyHaplotypeScore to ignore 454 reads, since all those pathological non-existing indels make some sites' score blow up. If a site is only covered by 454 reads, we (hopefully) detect this graciously and just emit a score of 0.0 for the site.
2) New annotation SByDepth = log10(-StrandBias/Depth) (non-standard annotation, key name = "SBD"). If StrandBias/Depth happens to be positive (very rare but can happen), annotation gets value=-1000. 
3) Abstracted out new class AnnotationByDepth so that QD and SBD can share code.



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2010-08-04 15:23:08 +00:00
ebanks bf60ed0b25 Needed it here too: warn user instead of dying if the R script cannot be executed
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2010-08-04 13:11:27 +00:00
ebanks 40ffe34686 Warn user instead of dying if the R script cannot be executed
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3928 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-04 13:08:15 +00:00
ebanks 17d5e89734 Now --list annotates which modules are Standard
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2010-08-03 21:00:37 +00:00
ebanks 72875cf717 Removing annoying printouts
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2010-08-03 19:55:00 +00:00
ebanks 2307bed742 VariantEval now uses the "standard" modules only by default. You can add other modules with the -E argument and not use all of the standard ones with -noStandard (they can be added back individually with -E).
Generalized some of the packaging code from VariantAnnotator.  Matt might want to take a look to make this nicer...?



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2010-08-03 16:51:10 +00:00
ebanks a7ff9caf54 Added sanity check against bad people and/or crazy big indels at edges of ref context
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2010-08-03 05:37:17 +00:00
hanna 5f1b67c1de Coping out and forcing the entire GATK (and associated JVM) to use US English
locale.  Method to force JVM into proper locale exists in CommandLineProgram
and is disabled by default, but implementers of CommandLineProgram can opt in
to the forced US locale by calling a static method.

Question for the VCF developers: I removed the code to explicitly output doubles
in US locale.  Do you / how do you want to handle this in applications that use
Tribble outside the GATK?


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2010-08-03 03:48:26 +00:00