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2217 Commits (73acfa654a3eb3d7e21e91945739fb8d1ab0452e)

Author SHA1 Message Date
fromer 367cc9135f Use VariantContext and Genotype accessor methods for attributes that will return null for unparseable data 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4699 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-17 18:19:56 +00:00
fromer 2f3578182a Added VERY preliminary version for merging refseq annotations as SNPs are merged 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4698 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-17 16:49:12 +00:00
fromer e2f7f33ce7 Added getIntegerAttribute() 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4697 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-17 16:33:07 +00:00
depristo d86ab2becb JEXL expressions now generate exceptions, not warnings. Tools should catch the runtime exception to handle correctly. Removed unncessary complexity from the JEXL contexts 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4695 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-17 16:08:16 +00:00
delangel 539651de30 Initial version of Indel Statistics module for Variant Eval - not for general use yet, needs more verification and more work. Older IndelHistogram module will be obsolete with this new walker. Right now, for each sample (and for all samples), the following are computed: 
- Number of insertions
- Number of deletions
- Length distribution for indels.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4694 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-17 15:52:01 +00:00
kshakir 01b721ab61 Passing ReviewedStingExceptions through the HMS. 
Added a @Hidden experimental argument -validate to VariantEval that allows external JEXL assertions that must evaluate to true will throw an exception.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4692 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-16 21:50:42 +00:00
ebanks f1b0f3bc49 Putting my changes from earlier in the day back in after someone (rhymes with 'Dark') trounced on them with his last commit... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4687 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-16 01:55:50 +00:00
depristo ef2f6d90d2 VQSR now operates on LOD scores in the INFO field directly, and doesn't adjust the QUAL field. New format for tranches file uses LOD score. Old file format no longer supported. log10sumlog10() function, a very useful utility in MathUtils. No more ExtendedPileupElement! Robust math calculations in GMM so that no infinities are generated! HaplotypeScore refactored to enable use of filtered context. Not yet enabled... InferredContext getDouble and getInteger arguments now parse values from Strings if necessary 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4684 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-15 22:19:22 +00:00
hanna 5b83942cee - Fix DepthOfCoverage so that, when it abuses the ROD system by instantiating a track in onTraversalDone, it also supplies the correct sequence dictionary and parser. 
- Changed RMDTrackBuilder to use SequenceDictionaryUtils.validateDictionaries for ref <-> ROD sequence dictionary validation.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4683 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-15 20:34:04 +00:00
depristo 62be55376b no longer useful 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4677 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-15 17:53:33 +00:00
ebanks 35382468ee Better error checking/output 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4676 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-15 16:36:34 +00:00
depristo 7a3a464959 Finally, the logic is right 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4674 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-15 14:02:09 +00:00
depristo 8d66637fc2 Bug fix for VariantsToTable with filtered records 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4673 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-15 13:49:16 +00:00
depristo d76b87d6e3 Useful debug file output 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4672 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-15 13:36:52 +00:00
depristo 82f9327b5e Throw the right exception 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4666 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-13 22:18:42 +00:00
depristo 44d0cb6cde New version of cutting routines for VQSR. Old code removed. Working unit tests. Best practice with testng integration test (everyone look at it). Walker test now allows you to not specify no. input files, if it can infer input counts from MD5s 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4664 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-13 16:19:56 +00:00
kshakir 673fa841a4 Updated PluginManager so that during testing Queue can dynamically compile and load separately multiple class directories into the same class loader. 
Removed obsolete usages of PackageUtils with updated PluginManager.
Ported Queue interval utilities written in scala over to Sting's java IntervalUtils.
Added a very basic intergration test to ensure that the fullCallingPipeline.q compiles.
Added options to specify the temporary directories without having to use -Djava.io.tmpdir (useful during the above integration test).
While adding tempDir added options to specify the run directory from the command line, for example "-runDir v1".
Upgraded to scala 2.8.1 and updated calls to deprecated functions.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4661 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-12 20:14:28 +00:00
depristo 988da428ae Bug fix for old style tranches file. ApplyVariantCuts moved over, and passes integration tests 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4657 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-12 14:38:26 +00:00
depristo c5f8c4dd0d VariantEval test for tranches file, plus cutting over VE to use the generic Tranches framework 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4656 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-12 13:52:40 +00:00
ebanks 69de3e51bf Better precision for the calculated AF value. Now looks at the total number of samples to determine how much precision is necessary. Also, changing default min BQ used for calling in UGv2 to Q17. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4655 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-12 08:31:40 +00:00
depristo ec83a4b765 Initial commit, without any tool changes, of a new infrastructure for determining tranches. This new version walker up from the lowest quality snps and determines Ti/Tv. This is marginally more stable than moving in the other direction when there are few novel variants (exomes). Can make a substantial difference in the size of the call set (10-20%). I'll hook it into the main system now. Includes an new class Tranche, isolated read/writing utilities that are now testing in TestVariantRecalibrator, which should be moved to UnitTest as soon as I can figure out how to do this on my mac. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4654 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-11 23:52:49 +00:00
depristo ed6396ed43 No longer getting the inet, it seems to potentially hang the JVM 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4653 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-11 23:49:42 +00:00
depristo dbde721dd0 Bug fix for filtered records 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4651 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-11 18:54:51 +00:00
aaron 698e5cf345 for GATK style codecs, make sure we fill in their GenomeLocParser from the RMDIndexer 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4650 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-11 18:44:15 +00:00
asivache 2e0296fef9 NWayOut logic slightly changed: 1) results.list file is gone; 2) now with -nWayOut one can specify either a) suffix to attach to every output file (i.e. cleaned reads from inputK.bam will be sent to inputK.suffix.bam) or b) *.map tab-separated file that must list <input_name> <output_name> mappings, one per line, for every input file. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4645 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-10 20:32:16 +00:00
asivache a1adfb91ce And now @Hidden tags are really in place :-/ 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4644 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-10 20:28:40 +00:00
asivache 68ce55148e (pseudo-)genotyping functionality added: force-emits calls (including REF) at specified locations. Currently @Hidden for testing. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4643 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-10 20:25:40 +00:00
hanna 8e36a07bea Convert GenomeLocParser into an instance variable. This change is required 
for anything that needs to be simultaneously aware of multiple references, eg
Queue's interval sharding code, liftover support, distributed GATK etc.  

GenomeLocParser instances must now be used to create/parse GenomeLocs.
GenomeLocParser instances are available in walkers by calling either

-getToolkit().getGenomeLocParser()
or
-refContext.getGenomeLocParser()

This is an intermediate change; GenomeLocParser will eventually be merged
with the reference, but we're not clear exactly how to do that yet.  This
will become clearer when contig aliasing is implemented.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4642 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-10 17:59:50 +00:00
depristo 4759fdd2ac V1 of read and variant simulator and assessor. SimulateReadsForVariants generates BAM and VCF with given combinations of variant and read properties. AssessSimulatedPerformance produces a table suitable for analysis in R 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4637 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-08 21:01:33 +00:00
aaron 97db593efb making my last commit message actually true 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4636 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-07 18:26:23 +00:00
aaron be499fc986 making the reference optional (the GATK will set it on the first run if it's not included), and setting the seq index if they do supply it. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4635 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-07 18:15:31 +00:00
aaron 2a8c97a4a7 better error catching, as well as allowing for default index naming, <filename>.idx 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4633 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-06 19:12:19 +00:00
aaron cb2e26a004 by request, an indexer tool to create Tribble style indexes outside of the GATK 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4632 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-06 18:59:06 +00:00
ebanks c9dbd8f80a Bug fix for Tim: all point events must be treated equally 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4629 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-05 03:42:51 +00:00
rpoplin 913db5d1ab Unfortunately when annotating sites with the UG the -G None option was wiping out the single annotations added by -A options 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4625 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-04 19:27:23 +00:00
ebanks 816c86776e Walker description was wrong and it was bothering me 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4624 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-04 02:17:09 +00:00
ebanks 87f6738d4c Deprecated 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4623 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-04 02:07:40 +00:00
chartl 42e9987e69 Bug fix to GenotypeConcordance. AC metrics get instantiated based on number of eval samples; if Comp has more samples, we can see AC indeces outside the bounds of the array. 
Bug fix to LiftoverVariants - no barfing at reference sites.

AlleleFrequencyComparison - local changes added to make sure parsing works properly

Added HammingDistance annotation. Mostly useless. But only mostly.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4622 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-03 19:23:03 +00:00
fromer 3d27defe93 Fixed output stats (percentage denominator) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4621 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-03 18:47:06 +00:00
fromer 22d64f77ff Added hidden --outputMultipleBaseCountsFile option to detect cases where a single read has more than one base at the same position 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4619 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-03 03:22:48 +00:00
fromer a885ecf046 When merging MNPs, the phased flag and the phase quality (PQ) are determined simultaneously 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4613 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-02 14:44:26 +00:00
hanna 861ee3e37a Changing testing framework from junit -> testng, for its enhanced configurability. 
Initial test to see how Bamboo will respond.  More detailed email to follow.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4609 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-01 21:31:44 +00:00
asivache fe3f78e1d3 make it full (absolute) path for the file names recorded in results.list 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4608 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-01 20:53:51 +00:00
asivache 2ac5e55130 typo 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4607 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-01 20:38:02 +00:00
asivache 0e6dd38936 In n-way-out mode, added printing names of all the output files into 'results.list' file 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4606 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-01 20:37:38 +00:00
fromer 64599d1074 Added debugging message 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4605 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-01 19:51:42 +00:00
fromer 639ecdc931 Noted in comment that using a single sample in MergePhasedSegregatingAlternateAllelesVCFWriter does NOT update any of the INFO fields, though this could be changed in the future... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4604 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-01 19:02:52 +00:00
fromer 8439f0aa61 Check for VCFConstants.MISSING_VALUE_v4 when retrieving INFO fields and consider such values as non-existent 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4603 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-01 17:51:35 +00:00
asivache aadd230636 N-Way-Out is back. Now uses SAMReadID to identify each read's source bam, so should be reliable. Interface is sort of ugly fo now: to generate output file names, .bam is stripped from input file names, then the value of -nWayOut argument is pasted on (and all the output files are written into the current dir). 
Unrelated change: in the sorted-target mode (when we read sorted target intervals one by on from a file), one can now specify multiple semicolon-separated interval files (all must be sorted). Not hugely useful probably, but makes --targetIntervals always process its values in exactly the same way, so we are consistent  (it has been already taking ;-separated args in unsorted mode)

NwayIntervalMergingIterator: reads in multiple sorted GenomeLoc input streams (iterators) and presents them as a single sorted and merged stream

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4602 348d0f76-0448-11de-a6fe-93d51630548a
 2010-11-01 16:06:51 +00:00
depristo 23cb399a88 Reasonable first pass at a correct SB calculation. Simple utilities to support it. VariantsToTable no longer prints filtered sites by default. New non-standard variant eval module to print comp sites not present in eval (FN finder) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4601 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-31 12:41:52 +00:00
hanna d492621122 The TraversalEngine's habit of hanging onto old ROD states seems to have a bad 
interaction with Tribble.  In Tribble, keeping these references in memory until
the shard is flushed means keeping one 512K character buffer per object in
memory.  Fixed by purging the reference to the object at the end of the 
shard traversal.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4599 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-29 17:09:58 +00:00
ebanks 1c056ea791 Users can now use VariantAnnotator to add annotations from one VCF to another. For example, if you want to annotate your target VCF with the AC field value from the rod bound to CEU1kg, you can specify -E CEU1kg.AC and records will be annotated with CEU1kg.AC=N when a record exists in that rod at the given position. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4598 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-29 16:38:31 +00:00
ebanks 1b3fc8ddd2 Doing things too quickly is also naughty. Thanks, Andrey. Now, we're even. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4597 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-29 14:50:04 +00:00
ebanks 58f7b4c595 Naughty use of assertions means that malformed records are not caught. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4596 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-29 14:41:38 +00:00
delangel 9a60e72364 Trivial change to LeftAlignVariants: make walker return number of aligned variants on map(), and print out the # of aligned variants at the end of the traversal. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4595 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-29 02:03:36 +00:00
hanna 2f8057bf24 Cleanup for multithreading memory leak during integration tests...unregister MXBean at end 
of traversal to avoid holding a reference to the microscheduler, which holds a reference to
the engine, which in turn holds a reference to the walker, which itself holds a reference to
all the data aggregated during the course of the traversal.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4594 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-28 18:37:42 +00:00
ebanks fe3cfb067c very minor cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4590 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-28 02:11:33 +00:00
depristo cbce3e3c83 General support for both GL (log10) and PL (phred-scaled) genotype likelihoods. All walkers now use the Tribble GenotypeLikelihoods object for parsing VCFs with genotype likelihood fields. Please use GenotypeLikelihoods object from now on for seamless support for GL and PL tags. UGv2 now uses PL by default. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4589 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-28 01:48:47 +00:00
fromer 15183ed778 Reduced header to single sample when useSingleSample arg is given (to prevent lots of pointless no-calls) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4588 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-27 23:02:10 +00:00
fromer 34538bf2b3 Added ability to focus only on a single sample and/or emit only merged records in MNP merger 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4587 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-27 20:41:05 +00:00
hanna 4c23b1fe9c Get rid of the static cache of ArgumentTypeDescriptors by making them an integral part of the 
parsing engine.  Hugely lowers our memory footprint in integrationtests, but not yet enough to 
run Mark's new parallelized VariantEvalIntegrationTests.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4585 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-27 19:44:55 +00:00
ebanks e112df20df Use a sorting VCF writer because records can flip positions during left-alignment 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4583 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-27 06:33:03 +00:00
ebanks 708e973911 Adding a walker to left-align indels in a VCF file (was able to reuse code from AlignmentUtils to do the hard part). The code correctly updates the alleles if they change. This makes it much easier to compare our indel calls to e.g. CG or dbSNP. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4582 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-27 06:08:26 +00:00
ebanks ec442086ec Minor refactoring of the cleaner allows me to add a trivial walker that left aligns the indels present in reads. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4581 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-27 03:39:10 +00:00
ebanks ffc0ed2b32 Renamed getName() to getSource() in VariantContext to be more accurate 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4579 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-27 02:21:41 +00:00
ebanks 52fc023d80 Added convenience methods to check/get the ID of the VariantContext 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4578 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-27 01:56:58 +00:00
fromer a7af1a164b Updated MNP merging to merge VC records if any sample has a haplotype of ALT-ALT, since this could possibly change annotations. Note that, besides the "interesting" case of an ALT-ALT MNP in a pair of HET sites, this could even occur if two records are hom-var (irrespective of using phasing). Note also that this procedure may generate more than one ALT allele. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4577 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-27 01:50:36 +00:00
depristo e02aac0743 No longer print out 0 reads were filtered out... message when there were no reads scene at all 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4575 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-26 20:22:16 +00:00
depristo b085648141 Parallelized VariantEval. Refactored output to support parallel output style. Minor improvements to testing framework to enable easy executeTestParallel to run -nt 1 and -nt 4 by default. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4574 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-26 20:21:38 +00:00
ebanks 071799453c More complete fix to previous commit 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4571 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-25 20:47:37 +00:00
ebanks 67a776d53c Yikes! VariantEval was always loading genotypes unnecessarily when no sample list was provided because the order of the checks in the if statement wasn't optimal. This results in a massive performance penalty when running with many-sample VCFs. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4570 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-25 20:30:23 +00:00
ebanks 0d97394c4f Add capability to liftover to do the right thing when sections of the genome are reverse complemented. This does not work for indels (we don't try to reverse complement) because we need to figure out what the hell to do about the fact that the 'base to the left' that we automatically add on will be wrong because the location of the indel actually changes when reverse complemented. Sheesh. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4569 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-25 20:03:03 +00:00
fromer c357ec775a Trivially phases any hom site (since it is always correct to continue the previous haplotypes by appending the same allele onto both haplotypes) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4568 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-25 16:58:41 +00:00
rpoplin da64183854 Fix for the case of the truth VCF file having multiple SNPs at the same locus. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4567 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-25 15:04:50 +00:00
hanna 3039c0de3c Retire old ROD syntax. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4564 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-22 23:52:11 +00:00
depristo 78e71c4167 Fisher exact makes a return. Seems to be working properly. Current tagged as a work in progress. Needs to take the filtered context to be truly correct. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4561 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-22 20:35:44 +00:00
fromer f06f955e06 Added count of number of mergeable records (within specified distance cutoff) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4560 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-22 20:11:15 +00:00
depristo 78b4a1c240 VariantsToTable now supports the virtual TRANSITION field 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4558 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-22 19:53:46 +00:00
hanna e6d61197e6 Disable OTF indexing when writing indices for temporary VCFs when running 
with -nt option.  When last I checked in, Ryan was seeing a ~25% speedup 
per shard by not indexing.


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 2010-10-22 17:40:37 +00:00
depristo e6b008f87c Fixed >= vs. > test leading to failure to tolerate dynamic indexes that are created at *exactly* the instant the output VCF is closed too 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4555 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-22 16:11:14 +00:00
ebanks 72c5b75460 Tribble exceptions can be generated outside of the normal codec parsing code because we now lazy load the VCF genotype fields. I'm not sure how else to account for this (to make sure they show up as user errors and not GATK system errors) besides catching them here. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4554 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-22 15:22:17 +00:00
ebanks c0b4317311 Er, here's the right fix 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4552 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-22 15:08:25 +00:00
ebanks 9f76aed515 Fix for IDs 5zP7jJeffK2sdPH1BH4JBVSrQztVEDKP and nX0cuBjoqBW4NQFpM6dE13KpkCuYFpZu 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4550 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-22 14:05:27 +00:00
hanna d4feb99d9a For parallel ROD traversals, simplified reference sharding. Will replace 
with a more sensible strategy for sharding w/o BAMs at some point after
ASHG.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4549 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-22 05:08:15 +00:00
fromer 60f88866dd Uses VCFConstants instead of hard-coded constants 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4547 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-21 19:49:01 +00:00
fromer 883b8ff80e Removed flush() method from VCFWriter interface; added takeOwnershipOfInner parameter in constructor of wrapper VCFWriters to designate if the Writer should close the inner Writer it receives on construction 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4546 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-21 19:48:00 +00:00
fromer 1ea43be976 Removed flush() method from VCFWriter interface 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4545 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-21 19:46:42 +00:00
chartl 3566ad2146 Wrong if statement. 
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 2010-10-21 17:37:45 +00:00
chartl bf17f92b64 Do not look for samples in dbsnp binding 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4543 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-21 17:36:38 +00:00
delangel cf9c9ae241 Three important updates for Dindel genotyper: 
a) Fix it up because it broke with a recent checkin to annotate vcf with unfiltered depth.
b) Printout of ref/alt alleles in output vcf was incorrect because the start/stop positions of associated GenomeLoc were incorrectly computed in case of a deletion.
c) Redid Beagle input/output walkers as not assume that ref was a single base, not to assume that variant was a vcf and generalized it to be indel-capable, so now the Beagle walkers can be used for indels as well.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4541 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-21 16:00:16 +00:00
ebanks 8f38ebf98e Throw a user exception when using the clustered SNP filter in the presence of ref calls. It's unfortunate, but until we get a windowed ROD context this is just too much of a headache to support. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4537 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-21 02:44:10 +00:00
ebanks 91049269c2 Optimizations across the board, with help from Guillermo, Matt, and JProfiler. Too tired to give details now. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4535 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-20 20:47:41 +00:00
fromer f76865abbc ReadBackedPhasing now uses a SortedVCFWriter to simplify, and has the ability to merge phased SNPs into MNPs on the fly [turned off by default]; MergeSegregatingPolymorphismsWalker can also do this as a post-processing step; Integration tests for MergeSegregatingPolymorphismsWalker were also added 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4534 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-20 20:27:10 +00:00
fromer e8079399ac Added flush() method to VCFWriters 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4533 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-20 20:23:22 +00:00
fromer 00726b6c4b Added mergeIntoMNPs to merge successive VCF records into a single MNP VCF [if possible] 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4532 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-20 19:40:26 +00:00
ebanks 4f77581087 More optimizations for HaplotypeScore: pulling final constants out of loops 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4530 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-20 17:40:57 +00:00
hanna 20fac43521 Add extra logging to the GATK run report at the start of metrics aggregation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4529 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-20 17:32:51 +00:00
ebanks a205900eff Naughty use of Strings in HaplotypeScore literally double the runtime of Unified Genotyper. Moved over to bytes and no longer allow Strings in the Haplotype util class. New round of profiling on tap for tomorrow. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4528 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-20 03:32:21 +00:00
depristo f9541b78d3 Timing of traversal now starts at the start of the traversal, so the rate is reasonable right off the bat. For example, we now see: INFO 22:45:02,476 TraversalEngine - [TRAVERSAL STARTING]; INFO 22:45:32,484 TraversalEngine - [PROGRESS] Traversed to 2:50850686, processing 18,646 sites in 30.05 secs (1611.50 secs per 1M sites) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4527 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-20 02:47:34 +00:00
depristo f7ce18553e GenotypeConcordance now prints interesting sites more nicely. RMDTrackBuilder is now uses the root class FeatureSource not BasicFeatureSource. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4525 348d0f76-0448-11de-a6fe-93d51630548a
 2010-10-20 00:29:02 +00:00
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!


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4378 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-29 11:18:12 +00:00
fromer e322e71c2f Restored SVN history for phasing 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4373 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-29 00:02:02 +00:00
fromer 720aaca8a0 Trying to restore SVN history for phasing 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4372 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-28 23:50:28 +00:00
fromer bf88117ead Trying to restore SVN history for phasing directory 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4371 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-28 23:48:24 +00:00
fromer 7c909bef82 Moved phasing classes out of playground! The code is still under production, though... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4369 348d0f76-0448-11de-a6fe-93d51630548a
 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 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4368 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-28 23:02:53 +00:00
chartl 862c94c8ce Small change for Matt -- output partition types in lexicographic order. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4365 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-28 20:08:03 +00:00
ebanks 7ad87d328d Make sure to uppercase ref bases since they aren't coming from the engine 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4364 348d0f76-0448-11de-a6fe-93d51630548a
 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



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4361 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-28 02:16:25 +00:00
ebanks 1034853a84 Adding 'solexa' to list of known/supported platforms 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4357 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-27 02:38:38 +00:00
aaron 70f03a7113 first pass of well-formatted tribble exceptions 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4352 348d0f76-0448-11de-a6fe-93d51630548a
 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.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4351 348d0f76-0448-11de-a6fe-93d51630548a
 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.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4350 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-24 22:09:12 +00:00
hanna 6ebca5d219 Enhancements to build external projects for walker sharing. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4348 348d0f76-0448-11de-a6fe-93d51630548a
 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 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4347 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4341 348d0f76-0448-11de-a6fe-93d51630548a
 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.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4339 348d0f76-0448-11de-a6fe-93d51630548a
 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.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4336 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-23 18:17:29 +00:00
depristo d081b9b352 Improvements to error messages about @Requires and @Allows 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4334 348d0f76-0448-11de-a6fe-93d51630548a
 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 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4332 348d0f76-0448-11de-a6fe-93d51630548a
 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.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4330 348d0f76-0448-11de-a6fe-93d51630548a
 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.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4329 348d0f76-0448-11de-a6fe-93d51630548a
 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.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4326 348d0f76-0448-11de-a6fe-93d51630548a
 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 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4323 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4321 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4319 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-21 13:44:40 +00:00
depristo 8719dde59d Now prints out PASS when a variant is unfiltered 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4318 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4315 348d0f76-0448-11de-a6fe-93d51630548a
 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 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4313 348d0f76-0448-11de-a6fe-93d51630548a
 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.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4311 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-19 23:47:31 +00:00
rpoplin c6351a11d6 Clearer logger output when not using by-hapmap 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4308 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4307 348d0f76-0448-11de-a6fe-93d51630548a
 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...



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4303 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4302 348d0f76-0448-11de-a6fe-93d51630548a
 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...



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4301 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4300 348d0f76-0448-11de-a6fe-93d51630548a
 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. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4299 348d0f76-0448-11de-a6fe-93d51630548a
 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) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4296 348d0f76-0448-11de-a6fe-93d51630548a
 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.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4292 348d0f76-0448-11de-a6fe-93d51630548a
 2010-09-15 22:54:49 +00:00