Commit Graph

237 Commits (edfd6f8a06bfbaaddfbb26677dc98f33af9f6318)

Author SHA1 Message Date
David Roazen edfd6f8a06 Removing a public -> private dependency from the test suite.
The public integration test VariantContextIntegrationTest was dependent on the
private walker TestVariantContextWalker. Moved this walker to public/java/test
(NOT public/java/src, since this walker is only used by the test suite) to avoid
errors during public-only tests.
2011-10-13 21:32:52 -04:00
Mark DePristo 2ebdff074c Update MD5s for SOLiD recalibration
-- MD5 db had spelling error; fixed
-- Bug in AlignmentUtils resulted in some bases not being color space corrected.  The integration test caught the change, and it's clear that the new version is correct, as the prev. version was not considering the last the N qualities for reads with a ND operation.
2011-10-13 18:01:51 -04:00
David Roazen 24b72334b3 UnifiedGenotyper now correctly initializes the VariantAnnotator engine.
This allows the annotation classes to perform any necessary initialization/validation.
For example, it allows the SnpEff annotator to (among other things) validate its rod binding.
This will prevent a NullPointerException when SnpEff annotation is requested but no rod binding
is present.

Added an integration test to cover this case so that it doesn't break again.
2011-10-11 12:02:05 -04:00
Matt Hanna 4fa5045e84 Abandoning classfileset/rootfileset approach due to difficulting managing
classloading of bcel*.jar/ant-apache-bcel*.jar.  Switching instead to manually
specifying a minimal set of packages/classes to include in the vcf.jar via
build.xml, and adding a unit test which creates a limited classloader
only aware of vcf.jar and tribble.jar and tries to use it to load the core
classes in the vcf jar.

Hopefully third time's the charm.
2011-10-06 12:49:51 -04:00
Mark DePristo d1d39943d0 Updating MD5 for BAMs that I added a read group to, part 2 2011-10-04 21:00:15 -07:00
Mark DePristo 941317167e Updating MD5 for BAMs that I added a read group to 2011-10-04 14:08:00 -07:00
Matt Hanna 0acaf2df65 Fix an embarrassing issue where a specific configuration of minimal coverage
over small intervals could cause reads to be dropped from the pileup.  Nothing
to see here...
2011-09-28 21:23:01 -04:00
Khalid Shakir 8ceb93b8ac Fixed an integration test which crashed on the out of date LSF DRMAA library when run against the obsolete LSF dotkit instead of .combined_LSF_SGE 2011-09-23 21:03:22 -04:00
David Roazen e1cb5f6459 SnpEff annotator now assigns a functional class to each effect and distinguishes between actual effects and mere modifiers.
-We now assign a functional class (nonsense, missense, silent, or none) to each SnpEff effect, and add a
 SNPEFF_FUNCTIONAL_CLASS annotation to the INFO field of the output VCF.
-Effects are now prioritized according to both biological impact and functional class, instead of impact only.
-Many of SnpEff's "low-impact" effects are now classified as "modifiers" with lower priority than every
 other effect. This includes such "effects" as DOWNSTREAM, UPSTREAM, INTRON, GENE, EXON, and others that
 really describe the location of the variant rather than its biological effect.

This code will be short-lived (likely 1.2-only), as the next version of SnpEff will include most of these
features directly.

Checking this change into Stable+Unstable instead of Unstable because the current functional class stratification
in VariantEval is basically broken and urgently needs to be fixed for production purposes.
2011-09-23 16:06:52 -04:00
Eric Banks 15a410b24b Updating md5 for fixed file 2011-09-22 13:15:41 -04:00
Mark DePristo f81a41b889 Updating MD5s for CombineVariants
-- Old version had broken RSIDs, new version is fixed.  No longer see rs1234,. as it is now just rs1234
2011-09-22 10:30:25 -04:00
Mark DePristo 6592972f82 Putative fix for BAQ array out of bounds
-- Old code required qual to be <64, which isn't strictly necessary.  Now uses the Picard SAMUtils.MAX_PHRED_SCORE constant
-- Unittest to enforce this behavior
2011-09-21 11:25:08 -04:00
Mark DePristo 7d11f93b82 Final bugfix for CombineVariants
-- Now handles multiple records at a site, so that you don't see records like set=dbsnp-dbsnp-dbsnp when combining something with dbsnp
-- Proper handling of ids.  If you are merging files with multiple ids for the same record, the ids are merged into a comma separated list
2011-09-21 10:58:32 -04:00
Mark DePristo a91ac0c5db Intermediate commit of bugfixes to CombineVariants 2011-09-21 10:15:05 -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
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
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
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