Commit Graph

380 Commits (ff26f2bf688048bbd6e2b9ffcf31cedce4fa99dd)

Author SHA1 Message Date
Mark DePristo ff26f2bf68 HierarchicalMicroScheduler no longer attempts to wrap exceptions
-- This behavior, which isn't obviously valuable at all, continued to grab and rethrow exceptions in the HMS that, if run without NT, would show up as more meaningful errors.  Now HMS simply checks whether the throwable it received on error was a RuntimeException.  If so, it is stored and rethrow without wrapping later.  If it isn't, only in this case is the exception wrapped in a ReviewedStingException.
-- Added a QC walker ErrorThrowingWalker that will throw a UserException, ReviewedStingException, and NullPointerException from map as specified on the command line
-- Added IT that ensures that all three types are thrown properly (i.e., you catch a NullPointerException when you ask for one to be thrown) with and without threading enabled.
-- I believe this will finally put to rest all of these annoying HMS captures.
2012-03-23 11:27:21 -04:00
Eric Banks 07c3bd32b3 Bug fix: merge NO_VARIATION records with those of another type. The sad part is that this WAS covered by integration tests but someone updated the MD5s without actually paying attention... 2012-03-21 12:42:13 -04:00
Eric Banks a7578e85e8 Rewriting a few of the indel integration tests for multi-allelics. The old tests were running b37 calls against a b36 reference, so the calls were all ref. The new tests are run against the pilot1 data and then those calls are fed back into the the same bam to test genotype given alleles, with a sprinkling of bi- and tri-allelics. 2012-03-16 14:21:27 -04:00
Eric Banks 7424041a17 Updating integration tests to deal with the new GL framework. Now multi-allelic indel calls are correct. 2012-03-16 12:50:39 -04:00
Eric Banks 41068b6985 The commit constitutes a major refactoring of the UG as far as the genotype likelihoods are concerned. I hate to do this in stable, but the VCFs currently being produced by the UG are totally busted. I am trying to make just the necessary changes in stable, doing everything else in unstable later. Now all GL calculations are unified into the GenotypeLikelihoods class - please try and use this functionality from now on instead of duplicating the code. 2012-03-15 16:08:58 -04:00
David Roazen 32dee7ed9b Avoid buffer underflow in GATKBAMIndex by detecting premature EOF in BAM indices
GATKBAMIndex would allow an extremely confusing BufferUnderflowException to be
thrown when a BAM index file was truncated or corrupt. Now, a UserException is
thrown in this situation instructing the user to re-index the BAM.

Added a unit test for this case as well.
2012-03-08 15:30:44 -05:00
Mark DePristo 0376d73ece Improved, public version of ErrorRateByCycle
-- A cleaner table output (molten).  For those interested in seeing how this can be done with GATKReports look here for a nice clean example
-- Integration tests
-- Minor improvements to GATKReportTable with methods to getPrimaryKeys
2012-03-07 13:10:08 -05:00
Mark DePristo 569be953b9 Bugfix for VariantEval
-- We weren't properly handling the case where a site had both a SNP and indel in both eval and comp.  These would naturally pair off as SNP x SNP and INDEL x INDEL in eval, but we'd still invoke update2 with (null, SNP) and (null, INDEL) resulting most conspicously as incorrect false negatives in the validation report.
-- Updating misc. integrationtests, as the counting of comps (in particular for dbSNP) was inflated because of this effect.
2012-03-06 16:56:59 -05:00
Ryan Poplin 14a77b1e71 Getting rid of redundant methods in MathUtils. Adding unit tests for approximateLog10SumLog10 and normalizeFromLog10. Increasing the precision of the Jacobian approximation used by approximateLog10SumLog which changes the UG+HC integration tests ever so slightly. 2012-03-05 12:28:32 -05:00
Mark DePristo 69611af7d3 Workaround for bug in Picard in ReadGroupProperties
-- NPE caused when you call getRunDate on a read group without a date.
2012-03-02 18:53:45 -05:00
Mark DePristo 2f334a57c2 ReadGroupProperties mk2
-- Includes paired end status (T/F)
-- Includes count of reads used in calculation
-- Includes simple read type (2x76 for example)
-- Better handling of insert size, read length when there's no data, or the data isn't paired end by emitting NA not 0
2012-03-01 18:43:53 -05:00
Mauricio Carneiro 29f74b658b Unit tests for the context covariate
this is simple, but it's the infra-structure to start messing around with the context.
2012-03-01 17:56:45 -05:00
Mark DePristo aff508e091 ReadGroupProperties walker and associated infrastructure
-- ReadGroupProperties: Emits a GATKReport containing read group, sample, library, platform, center, median insert size and median read length for each read group in every BAM file.
-- Median tool that collects up to a given maximum number of elements and returns the median of the elements.
-- Unit and integration tests for everything.
-- Making name of TestProvider protected so subclasses and override name more easily
2012-03-01 15:01:11 -05:00
Eric Banks bd944ab04f Another test where we no longer print out 'NaN' for the AF. 2012-02-27 15:19:08 -05:00
Eric Banks 52871187d7 Adding integration test for file with no GTs. Also updated md5 for one other test (since we no longer print out 'NaN' for the AF). 2012-02-27 15:09:56 -05:00
Eric Banks 1ea34058c2 Updating integration tests now that standard annotations support multiple alleles 2012-02-27 11:32:26 -05:00
Guillermo del Angel 16122bea8d Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-02-25 13:57:54 -05:00
Guillermo del Angel dea35943d1 a) Bug fix in calling new functions that give indel bases and length from regular pileup in LocusIteratorByState, b) Added unit test to cover these. 2012-02-25 13:57:28 -05:00
Mark DePristo c8a06e53c1 DoC now properly handles reference N bases + misc. additional cleanups
-- DoC now by default ignores bases with reference Ns, so these are not included in the coverage calculations at any stage.
-- Added option --includeRefNSites that will include them in the calculation
-- Added integration tests that ensures the per base tables (and so all subsequent calculations) work with and without reference N bases included
-- Reorganized command line options, tagging advanced options with @Advanced
2012-02-25 11:32:50 -05:00
Eric Banks ad90af94ed Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-02-13 15:10:10 -05:00
Eric Banks 0920a1921e Minor fixes to splitting multi-allelic records (as regards printing indel alleles correctly); minor code refactoring; adding integration tests to cover +/- splitting multi-allelics. 2012-02-13 15:09:53 -05:00
Eric Banks 14981bed10 Cleaning up VariantsToTable: added docs for supported fields; removed one-off hidden arguments for multi-allelics; default behavior is now to include multi-allelics in one record; added option to split multi-allelics into separate records. 2012-02-13 14:32:03 -05:00
Ryan Poplin 41ffd08d53 On the fly base quality score recalibration now happens up front in a SAMIterator on input instead of in a lazy-loading fashion if the BQSR table is provided as an engine argument. On the fly recalibration is now completely hooked up and live. 2012-02-13 12:35:09 -05:00
Eric Banks f52f1f659f Multiallelic implementation of the TDT should be a pairwise list of values as per Mark Daly. Integration tests change because the count in the header is now A instead of 1. 2012-02-10 14:15:59 -05:00
Eric Banks 5e18020a5f Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-02-10 11:08:33 -05:00
Eric Banks f53cd3de1b Based on Ryan's suggestion, there's a new contract for genotyping multiple alleles. Now the requester submits alleles in any arbitrary order - rankings aren't needed. If the Exact model decides that it needs to subset the alleles because too many were requested, it does so based on PL mass (in other words, I moved this code from the SNPGenotypeLikelihoodsCalculationModel to the Exact model). Now subsetting alleles is consistent. 2012-02-10 11:07:32 -05:00
Eric Banks 7a937dd1eb Several bug fixes to new genotyping strategy. Update integration tests for multi-allelic indels accordingly. 2012-02-09 16:14:22 -05:00
Mauricio Carneiro d561914d4f Revert "First implementation of GATKReportGatherer"
premature push from my part. Roger is still working on the new format and we need to update the other tools to operate correctly with the new GATKReport.

This reverts commit aea0de314220810c2666055dc75f04f9010436ad.
2012-02-08 23:28:55 -05:00
Eric Banks 2f800b078c Changes to default behavior of UG: multi-allelic mode is always on; max number of alternate alleles to genotype is 3; alleles in the SNP model are ranked by their likelihood sum (Guillermo will do this for indels); SB is computed again. 2012-02-08 15:27:16 -05:00
Mauricio Carneiro 337819e791 disabling the test while we fix it 2012-02-07 19:22:32 -05:00
Roger Zurawicki c0c676590b First implementation of GATKReportGatherer
- Added the GATKReportGatherer
- Added private methods in GATKReport to combine Tables and Reports
- It is very conservative and it will only gather if the table columns, match.
- At the column level it uses the (redundant) row ids to add new rows. It will throw an exception if it is overwriting data.
Added the gatherer functions to CoverageByRG

Also added the scatterCount parameter in the Interval Coverage script
Made some more GATKReport methods public

The UnitTest included shows that the merging methods work
Added a getter for the PrimaryKeyName
Fixed bugs that prevented the gatherer form working

Working GATKReportGatherer
Has only the functional to addLines
The input file parser assumes that the first column is the primary key

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-02-07 18:14:47 -05:00
Mauricio Carneiro d5d4fa8a88 Fixed discordance bug reported by Brad Chapman
discordance now reports discordance between genotypes as well (just like concordance)
2012-01-30 09:50:45 -05:00
Eric Banks ddaf51a50f Updated one integration test for indels 2012-01-25 19:18:51 -05:00
Eric Banks e349b4b14b Allow appending with the dbSNP ID even if a (different) ID is already present for the variant rod. 2012-01-25 11:35:54 -05:00
Mauricio Carneiro ffd61f4c1c Refactor the Pileup Element with regards to indels
Eric reported this bug due to the reduced reads failing with an index out of bounds on what we thought was a deletion, but turned out to be a read starting with insertion.

   * Refactored PileupElement to distinguish clearly between deletions and read starting with insertion
   * Modified ExtendedEventPileup to correctly distinguish elements with deletion when creating new pileups
   * Refactored most of the lazyLoadNextAlignment() function of the LocusIteratorByState for clarity and to create clear separation between what is a pileup with a deletion and what's not one. Got rid of many useless if statements.
   * Changed the way LocusIteratorByState creates extended event pileups to differentiate between insertions in the beginning of the read and deletions.
   * Every deletion now has an offset (start of the event)
   * Fixed bug when LocusITeratorByState found a read starting with insertion that happened to be a reduced read.
   * Separated the definitions of deletion/insertion (in the beginning of the read) in all UG annotations (and the annotator engine).
   * Pileup depth of coverage for a deleted base will now return the average coverage around the deletion.
   * Indel ReadPositionRankSum test now uses the deletion true offset from the read, changed all appropriate md5's
   * The extra pileup elements now properly read by the Indel mode of the UG made any subsequent call have a different random number and therefore all RankSum tests have slightly different values (in the 10^-3 range). Updated all appropriate md5s after extremely careful inspection -- Thanks Ryan!

 phew!
2012-01-24 16:07:21 -05:00
Mark DePristo 02450e4b12 Merged bug fix from Stable into Unstable 2012-01-23 12:08:39 -05:00
Mark DePristo 80a4ce0edf Bugfix for incorrect error messages for missing BAMs and VCFs
-- Missing BAMs were appearing as StingExceptions
-- Missing VCFs were showing up as CommandLineErrors, but it's clearer for them to be CouldNotReadInputFile exceptions
-- Added integration tests to ensure missing BAMs, VCFs, and -L files are properly thrown as CouldNotReadInputFile exceptions
-- Added path to standard b37 BAM to BaseTest
-- Cleaned up code in SAMDataSource, removing my parallel loading code as this just didn't prove to be useful.
2012-01-23 09:52:07 -05:00
Christopher Hartl 4a08e8ca6e Minor tweaks to T2D-related qscripts. Replacing old md5s from the BeagleIntegrationTest. All differences boiled down either to the accounting of genotypes changed (./. --> 0/0 is no longer a "changed" genotype, and original genotypes that were ./. are represented as OG=. rather than OG=./. .)
This is somewhat of an arbitrary decision, and is negotiable. I could see treating

GT:PL   ./.:.

differently from

GT:PL   .:0,3,6

but am not sure the worth of doing so.
2012-01-23 08:25:34 -05:00
Eric Banks ab8f499bc3 Annotate with FS even for filtered sites 2012-01-18 22:04:51 -05:00
Ryan Poplin 60024e0d7b updating TDT integration test 2012-01-18 09:52:50 -05:00
Mauricio Carneiro cec7107762 Better location for the downsampling of reads in PrintReads
* using the filter() instead of map() makes for a cleaner walker.
   * renaming the unit tests to make more sense with the other unit and integration tests
2012-01-14 14:06:09 -05:00
Mauricio Carneiro 28aa353501 Added "unbiased" downsampling parameter to PrintReads
* also cleaned up and updated part of the unit tests for print reads. Needs a more thorough cleaning.
2012-01-12 16:33:55 -05:00
Mauricio Carneiro 77a03c9709 Patching special case in the adaptor clipping
* if the adaptor boundary is more than MAXIMUM_ADAPTOR_SIZE bases away from the read, then let's not clip anything and consider the fragment to be undetermined for this read pair.
   * updated md5's accordingly
2012-01-11 17:47:44 -05:00
Eric Banks c5320ef1af Resolving changes in integration test during merge 2012-01-10 12:14:16 -05:00
Eric Banks 0f36f6947e Resolving merge conflicts 2012-01-10 11:44:16 -05:00
Eric Banks f2cecce10f Much better implementation of the approximate summing of an array of log10 values (including more efficient rounding). Now effectively takes 0% of UG runtime on T2D GENES (as opposed to 11% previously). 2012-01-10 11:34:23 -05:00
Mark DePristo dd80ffbbbe Merged bug fix from Stable into Unstable 2012-01-05 21:51:48 -05:00
Mark DePristo c96fee477c Bug fix for VariantSummary
-- Call sets with indels > 50 bp in length are tagged as CNVs in the tag (following the 1000 Genomes convention) and were unconditionally checking whether the CNV is already known, by looking at the known cnvs file, which is optional.  Fixed.  Has the annoying side effect that indels > 50bp in size are not counted as indels, and so are substrated from both the novel and known counts for indels.  C'est la vie
-- Added integration test to check for this case, using Mauricio's most recent VCF file for NA12878 which has many large indels.  Using this more recent and representative file probably a good idea for more future tests in VE and other tools.  File is NA12878.HiSeq.WGS.b37_decoy.indel.recalibrated.vcf in Validation_Data
2012-01-05 21:51:06 -05:00
Guillermo del Angel 58d4539304 Enabled banded indel computation by default. Reversed logic in input UG argument so that we can still disable it if required. Minor changes to integration tests due to minor differences in GL's and in annotations 2012-01-04 15:28:26 -05:00
David Roazen 621ee2b613 Merged bug fix from Stable into Unstable 2012-01-03 16:56:49 -05:00