Commit Graph

231 Commits (48c413fee899082d3edf05ecc9c3381e4ab52a9e)

Author SHA1 Message Date
David Roazen b04d8eab55 Merged bug fix from Stable into Unstable 2011-09-20 17:24:14 -04:00
David Roazen d9ea764611 SnpEff annotator now adds OriginalSnpEffVersion and OriginalSnpEffCmd lines to the header of the VCF output file.
This change is urgently required for production, which is why it's going into Stable+Unstable
instead of just Unstable.

The keys for the SnpEff version and command header lines in the VCF file output by
VariantAnnotator (OriginalSnpEffVersion and OriginalSnpEffCmd) are intentionally
different from the keys for those same lines in the SnpEff output file (SnpEffVersion
and SnpEffCmd), so that output files from VariantAnnotator won't be confused
with output files from SnpEff itself.
2011-09-20 16:30:55 -04:00
Mark DePristo b7511c5ff3 Fixed long-standing bug in tribble index creation
-- Previously, on the fly indices didn't have dictionary set on the fly, so the GATK would read, add dictionary, and rewrite the index.  This is now fixed, so that the on the fly index contains the reference dictionary when first written, avoiding the unnecessary read and write
-- Added a GenomeAnalysisEngine and Walker function called getMasterSequenceDictionary() that fetches the reference sequence dictionary.  This can be used conveniently everywhere, and is what's written into the Tribble index
-- Refactored tribble index utilities from RMDTrackBuilder into IndexDictionaryUtils
-- VCFWriter now requires the master sequence dictionary
-- Updated walkers that create VCFWriters to provide the master sequence dictionary
2011-09-20 10:53:18 -04:00
Mark DePristo aa8afa3899 Merge 2011-09-19 21:16:47 -04:00
Mark DePristo 4ad330008d Final intervals cleanup
-- No functional changes (my algorithm wouldn't work)
-- Major structural cleanup (returning more basic data structures that allow us to development new algorithm)
-- Unit tests for the efficiency of interval partitioning
2011-09-19 10:19:10 -04:00
Mark DePristo 6ea57bf036 Merge branch 'master' into sgintervals 2011-09-19 09:50:19 -04:00
Guillermo del Angel 7fa1e237d9 Forgot to git stash pop new MD5's for CombineVariants integration test 2011-09-16 12:53:54 -04:00
David Roazen d78e00e5b2 Renaming VariantAnnotator SnpEff keys
This is to head off potential confusion with the output from the SnpEff tool itself,
which also uses a key named EFF.
2011-09-15 17:42:15 -04:00
Eric Banks 9dc6354130 Oops didn't mean to touch this test before 2011-09-15 16:55:24 -04:00
Eric Banks 202405b1a1 Updating the FunctionalClass stratification in VariantEval to handle the snpEff annotations; this change really needs to be in before the release so that the pipeline can output semi-meaningful plots. This commit maintains backwards compatibility with the crappy Genomic Annotator output. However, I did clean up the code a bit so that we now use an Enum instead of hard-coded values (so it's now much easier to change things if we choose to do so in the future). I do not see this as the final commit on this topic - I think we need to make some changes to the snpEff annotator to preferentially choose certain annotations within effect classes; Mark, let's chat about this for a bit when you get back next week. Also, for the record, I should be blamed for David's temporary commit the other day because I gave him the green light (since when do you care about backwards compatibility anyways?). In any case, at least now we have something that works for both the old and new annotations. 2011-09-15 13:52:31 -04:00
David Roazen 3db457ed01 Revert "Modified VariantEval FunctionalClass stratification to remove hardcoded GenomicAnnotator keynames"
After discussing this with Mark, it seems clear that the old version of the
VariantEval FunctionalClass stratification is preferable to this version.
By reverting, we maintain backwards compatibility with legacy output files
from the old GenomicAnnotator, and can add SnpEff support later without
breaking that backwards compatibility.

This reverts commit b44acd1abd9ab6eec37111a19fa797f9e2ca3326.
2011-09-14 10:47:28 -04:00
David Roazen e0c8c0ddcb Modified VariantEval FunctionalClass stratification to remove hardcoded GenomicAnnotator keynames
This is a temporary and hopefully short-lived solution. I've modified
the FunctionalClass stratification to stratify by effect impact as
defined by SnpEff annotations (high, moderate, and low impact) rather
than by the silent/missense/nonsense categories.

If we want to bring back the silent/missense/nonsense stratification,
we should probably take the approach of asking the SnpEff author
to add it as a feature to SnpEff rather than coding it ourselves,
since the whole point of moving to SnpEff was to outsource genomic
annotation.
2011-09-14 07:09:47 -04:00
David Roazen 1213b2f8c6 SnpEff 2.0.2 support
-Rewrote SnpEff support in VariantAnnotator to support the latest SnpEff release (version 2.0.2)
-Removed support for SnpEff 1.9.6 (and associated tribble codec)
-Will refuse to parse SnpEff output files produced by unsupported versions (or without a version tag)
-Correctly matches ref/alt alleles before annotating a record, unlike the previous version
-Correctly handles indels (again, unlike the previous version
2011-09-14 07:09:47 -04:00
Guillermo del Angel 5b1bf6e244 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-09-13 17:04:43 -04:00
Guillermo del Angel c6672f2397 Intermediate (but necessary) fix for Beagle walkers: if a marker is absent in the Beagle output files, but present in the input vcf, there's no reason why it should be omitted in the output vcf. Rather, the vc is written as is from the input vcf 2011-09-13 16:57:37 -04:00
Ryan Poplin 981b78ea50 Changing the VQSR command line syntax back to the parsed tags approach. This cleans up the code and makes sure we won't be parsing the same rod file multiple times. I've tried to update the appropriate qscripts. 2011-09-12 12:17:43 -04:00
Guillermo del Angel 9344938360 Uncomment code to add deleted bases covering an indel to per-sample genotype reporting, update integration tests accordingly 2011-09-10 19:41:01 -04:00
Guillermo del Angel b399424a9c Fix integration test affected by non-calling all-zero PL samples, and add a more complicated multi-sample integration test from a phase 1 case, GBR with mixed technologies and complex input alleles 2011-09-09 20:44:47 -04:00
Mark DePristo 72536e5d6d Done 2011-09-09 15:44:47 -04:00
Ryan Poplin 1953edcd2d updating Validate Variants deletion integration test 2011-09-09 13:39:08 -04:00
Ryan Poplin 9ada9b3ed4 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-09-09 13:15:36 -04:00
Ryan Poplin 354529bff3 adding Validate Variants integration test with a deletion 2011-09-09 13:15:24 -04:00
Mark DePristo 06cb20f2a5 Intermediate commit cleaning up scatter intervals
-- Adding unit tests to ensure uniformity of intervals
2011-09-09 12:56:45 -04:00
Eric Banks 51eb95d638 Missed these tests before 2011-09-09 11:46:37 -04:00
Eric Banks 6ad8943ca0 CompOverlap no longer keeps track of the number of comp sites since it wasn't (and cannot) keeping track of them correctly. 2011-09-09 09:45:24 -04:00
Eric Banks eaaba6eb51 Confirming that when stratifying by sample in VE the monomorphic sites for a given sample are not counted for the relevant metrics. Adding integration test to cover it. 2011-09-08 13:17:34 -04:00
Ryan Poplin 2636d216de Adding indel vqsr integration test 2011-09-08 10:38:13 -04:00
Ryan Poplin 9cba1019c8 Another fix for genotype given alleles for indels. Expanding the indel integration tests to include multiallelics and indel records that overlap 2011-09-08 09:25:13 -04:00
Ryan Poplin e0020b2b29 Fixing PrintRODs. Now has input and only prints out one copy of each record 2011-09-08 08:58:37 -04:00
Mark DePristo 2ded027762 Removed dysfunctional tranches support from VariantEval 2011-09-07 16:09:24 -04:00
Eric Banks aa9e32f2f1 Reverting Mark's previous commit as per the open discussion. Now the eval modules check isPolymorphic() before accruing stats when appropriate. Fixed the IndelLengthHistogram module not to error out if the indel isn't simple (that would have been bad). Only integration test that needed to be updated was the tranches one based on a separate commit from Mark. 2011-09-07 15:48:06 -04:00
Mark DePristo 9127849f5d BugFix for unit test 2011-09-07 14:54:10 -04:00
Eric Banks da9c8ab386 Revving the Tribble jar where the DbsnpCodec class was renamed to OldDbsnpCodec. Updating GATK code accordingly. 2011-09-06 20:39:42 -04:00
Mark DePristo 1aa4b12ff0 Reduced the number of combinations being tested here, which was overkill 2011-09-01 10:42:43 -04:00
Mark DePristo 3af001fff2 Bugfix for file that must not exist on disk 2011-08-29 17:00:10 -04:00
Mark DePristo 1ceb020fae UnitTests for RScript 2011-08-27 10:50:05 -04:00
Mark DePristo c0503283df Spelling fix requires md5 updates 2011-08-26 07:40:44 -04:00
Guillermo del Angel e618cb1e79 a) Renamed/expanded SelectVariants arguments that choose particular kinds of variants and particular allelic types, now instead of -Indels or -SNPs we can specify for example -selectType [MIXED|INDEL|SNP|MNP|SYMBOLIC]. To select biallelic, multiallelic variants, use -restrictAllelesTo [BIALLELIC|MULTIALLELIC]. Corresponding gatkdocs changes.
b) More useful AC,AF logging in VariantsToTable with multiallelic sites: instead of logging comma-separated values, log max value by default. Hidden, experimental argument -logACSum to log sum of ACs instead. This is due to extreme slowness of R in parsing strings to tokens and computing max/sum itself (~100x slower than gatk).
c) Added integrationtest for new SelectVariants commands
2011-08-24 12:25:50 -04:00
Khalid Shakir 1ecbf05aae Avoid segfaults due to out of date and possibly abandonded LSF DRMAA implementation when use'ing LSF instead of .combined_LSF_SGE 2011-08-23 23:49:36 -04:00
Khalid Shakir c4c90c8826 Updates to JobRunners from the Queue developer community and from running the WholeGenomePipeline:
- Ability to pass a different resident memory reservation and limits. Useful for large pileups of low pass genome data that sometimes need high -Xmx6g but usually don't exceed 2-3g in actual heap size.
- Fixed jobPriority to work for all job runners. Now must be a integer between 0 and 100- even for GridEngine- and will be mapped to the correct values.
- Passing parallel environment and job resource requests to LSF and GridEngine. Useful for passing tokens like iodine_io=1 and -pe pe_slots 8
- Refactored GridEngine JobRunner to also provide basic support for other job dispatchers with DRMAA implementations such as Torque/PBS. Should work for basic running but advanced users must pass their own jobNativeArgs from the command line or in customized QScripts until someone maps properties like jobQueue, jobPriority, residentRequest, etc. into a Torque/PBS/etc. dispatcher.
2011-08-22 15:13:27 -04:00
Guillermo del Angel 782453235a Updated VariantEvalIntegrationTest since there's a new column separating nMixed and nComplex in CountVariants
Misc updates to WholeGenomeIndelCalling.scala
Bug fix in VariantEval (may be temporary, need more investigation): if -disc option is used in sites-only vcf's then a null pointer exception is produced, caused by recent introduction of -xl_sf options.
2011-08-20 12:24:22 -04:00
Guillermo del Angel 4939648fd4 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-08-20 08:50:43 -04:00
Mark DePristo ff018c7964 Swapped argument order but not MD5 order 2011-08-19 16:55:56 -04:00
Mark DePristo b08d63a6b8 Documentation and code cleanup for ClipReads, CallableLoci, and VariantsToTable
-- Swapped -o [summary] and -ob [bam] for more standard -o [bam] and -os [summary] arguments.
-- @Advanced arguments
2011-08-19 15:06:37 -04:00
Guillermo del Angel 269ed1206c Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-08-19 09:32:20 -04:00
Mark DePristo a5e279d697 Dynamic typing of vcf.gz files
-- CombineVariantsIntegrationTests now use dynamic typing of vcf.gz files
-- FeatureManagerUnitTests tests for correctness.
2011-08-19 09:05:11 -04:00
Guillermo del Angel 58560a6d50 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2011-08-18 16:17:52 -04:00
Guillermo del Angel 3dfb60a46e Fixing up and refactoring usage of indel categories. On a variant context, isInsertion() and isDeletion() are now removed because behavior before was wrong in case of multiallelic sites. Now, methods isSimpleInsertion() and isSimpleDeletion() will return true only if sites are biallelic. For multiallelic sites, isComplex() will return true in all cases.
VariantEval module CountVariants is corrected and an additional column is added so that we log mixed events and complex indels separately (before they were being conflated).
VariantEval module IndelStatistics is considerably simplified as the sample stratification was wrong and redundant, now it should work with the VE-generic Sample stratification. Several columns are renamed or removed since they're not really useful
2011-08-18 16:17:38 -04:00
Mark DePristo c2287c93d7 Cleanup of codec locations. No more dbSNPHelper
-- refdata/features now in utils/codecs with the other codecs
-- Deleted dbsnpHelper.  rsID function now in VCFutils.  Remaining code either deleted or put into VariantContextAdaptors
-- Many associated import updates due to code move
2011-08-18 10:02:46 -04:00
Eric Banks b75a1807e3 Adding integration test to cover sample exclusion 2011-08-17 22:40:09 -04:00