Commit Graph

12548 Commits (815f119f7ceb7d445e8a942e43d705d507c7a4ab)

Author SHA1 Message Date
Mauricio Carneiro 815f119f7c Walker to create a fastq file from an interval list
useful to convert bait and target interval lists into actual sequences that we can align with bwa and test for mappability.
2013-06-29 11:24:16 -04:00
David Roazen 31827022db Fix pipeline tests that were not respecting the pipeline test dry run setting
There are a few pipeline test classes that do not run Queue, but are
classified as pipeline tests because they submit farm jobs. Make these
unconventional pipeline tests respect the pipeline test dry run setting.
2013-06-28 15:27:17 -04:00
Ryan Poplin 1ec56c9e64 Merge pull request #311 from broadinstitute/eb_require_min_mq_for_FN_in_kb
We need to enforce a minimum base and mapping quality threshold to penal...
2013-06-27 16:49:45 -07:00
Mark DePristo 5717f3dc1c Merge pull request #312 from broadinstitute/eb_fix_assessna12878_and_add_integration_tests
I allowed a bad push yesterday with the KB because there weren't any int...
2013-06-27 13:51:37 -07:00
Eric Banks 7aa1f56dff We need to enforce a minimum base and mapping quality threshold to penalize a callset for FNs.
This is used in conjunction with the -BAM argument in AssessNA12878 and is necessary for the
Jenkins assessment to work properly (Ryan's commit wasn't enough).
2013-06-27 15:58:39 -04:00
Eric Banks 1f1da56d28 I allowed a bad push yesterday with the KB because there weren't any integration tests for the assessment.
Added one and fixed up the code so that the headers are more accurate for the -badSites output.
2013-06-27 15:42:53 -04:00
Ryan Poplin 825b603acb Merge pull request #298 from broadinstitute/md_likelihood_rank_sum
Md likelihood rank sum
2013-06-27 11:14:25 -07:00
Mark DePristo de7fe2e086 Merge pull request #308 from broadinstitute/rp_assessment_low_coverage
Don't count no coverage sites as false negatives in the assessment again...
2013-06-27 06:46:23 -07:00
Eric Banks 9f08718636 Merge pull request #309 from jsilter/master
Add "isComplexEvent" as attribute
2013-06-26 16:00:51 -07:00
Jacob Silterra beb834e849 Add "isComplexEvent" as attribute to VariantContextBuilder for MongoVariantContext 2013-06-26 17:12:32 -04:00
Ryan Poplin fe5348ea5d Don't count no coverage sites as false negatives in the assessment against the knowledge base 2013-06-26 16:02:44 -04:00
Mark DePristo a514dd0643 Merge pull request #307 from broadinstitute/eb_rr_off_by_one_error
Proper fix for previous RR -cancer_mode fix.
2013-06-26 13:02:23 -07:00
Eric Banks 876e40466a Proper fix for previous RR -cancer_mode fix.
I "fixed" this once before but instead of testing with unit tests I used integration tests.
Bad decision.

The proper fix is in now, with a bonafide unit test included.
2013-06-26 14:48:09 -04:00
Eric Banks 95eab80f9b Merge pull request #306 from broadinstitute/eb_make_assessreducedquals_hidden
Make this walker @Hidden
2013-06-26 08:47:28 -07:00
Eric Banks f242be12c0 Make this walker @Hidden 2013-06-26 11:45:21 -04:00
Mark DePristo 28d4c3debc Merge pull request #305 from broadinstitute/dr_move_DownsampleReadsQC_to_private
Move DownsampleReadsQC walker to private
2013-06-25 16:33:20 -07:00
David Roazen 94294ed6c4 Move DownsampleReadsQC walker to private 2013-06-25 15:48:44 -04:00
Mark DePristo d13ed06e9d Merge pull request #303 from broadinstitute/eb_update_kb_to_use_exome_intervals
Various updates to have the KB use the expanded exome intervals (from D ...
2013-06-24 13:06:52 -07:00
Eric Banks 6dc816beee Various updates to have the KB use the expanded exome intervals (from D MacArthur) in addition to chr20.
1. MergeIntervalLists should take the global interval padding into account when merging.
2. Update the name of the imported callsets in the setup script because of renaming for expanded intervals.
3. If there are too many intervals to process, MongoDB falls apart.  Refactored the site selection code so
   that in such cases we pull out all records from the DB and the GATK itself does the interval filtering.
4. Add isComplex to callset summary for the consensus summarizer.
5. Remove the check for out of order records in the SiteIterator since records now do come out of order
  (since contigs are sorted lexicographically in MongoDB).

Results:
Iteration over the gencode intervals (90 MB) in AssessNA12878 now takes 90 seconds.  I can't tell you how
much time it took before because it kept crashing Mongo (but it was a long, long time).
2013-06-24 14:57:35 -04:00
Mark DePristo ff76d0c877 Merge pull request #304 from broadinstitute/eb_rr_header_negative_fix_again
Fixing the 'header is negative' problem in Reduce Reads... again.
2013-06-24 11:55:52 -07:00
Eric Banks 165b936fcd Fixing the 'header is negative' problem in Reduce Reads... again.
Previous fixes and tests only covered trailing soft-clips.  Now that up front
hard-clipping is working properly though, we were failing on those in the tool.

Added a patch for this as well as a separate test independent of the soft-clips
to make sure that it's working properly.
2013-06-24 14:06:21 -04:00
Valentin Ruano-Rubio b97f9a487d Merged bug fix from Stable into Unstable 2013-06-24 14:00:01 -04:00
Mark DePristo 521d9c1df5 Merge pull request #302 from broadinstitute/mc_processing_pipeline2
quick updates to the techdev processing pipeline scala script
2013-06-24 09:52:55 -07:00
Mauricio Carneiro c38b8065d8 quick fixes to the scala script
* Increase the memory limit for HTSLIB - Bam shuffling just eats up a ton of memory.
   * Concurrent HTSLIB processes need unique temp files the bam shuffling step was messing up with the temporary files and failing without returning zero. Fixed it by giving a unique name to each process.
2013-06-24 12:44:47 -04:00
Mark DePristo 191e4ca251 Merge pull request #300 from broadinstitute/mc_move_qualify_intervals_to_protected
Few bug fixes to this tool now that it is in protected
2013-06-24 09:35:45 -07:00
Yossi Farjoun d8ca4d3e6d Merge pull request #299 from broadinstitute/eb_mate_fixer_confused_by_nonprimary_alignment
Another fix for the Indel Realigner that arises because of secondary alignments.
2013-06-24 06:58:27 -07:00
Valentin Ruano-Rubio 3e5ff6095f Added the pertinent DocumentedGATKFeature annotation ot AnalyzeCovariates 2013-06-21 17:02:26 -04:00
Eric Banks d976aae2b1 Another fix for the Indel Realigner that arises because of secondary alignments.
This time we don't accidentally drop reads (phew), but this bug does cause us not to
update the alignment start of the mate.  Fixed and added unit test to cover it.
2013-06-21 16:59:22 -04:00
Mark DePristo 8caf39cb65 Experimental LikelihoodRankSum annotation
-- Added experimental LikelihoodRankSum, which required slightly more detailed access to the information managed by the base class, so added an overloaded getElementForRead also provides access to the MostLikelyAllele class
-- Added base class default implementation of getElementForPileupElement() which returns null, indicating that the pileup version isn't supported.
-- Added @Override to many of the RankSum classes for safety's sake

-- Updates to GeneralCallingPipeline: annotate sites with dbSNP IDs,
-- R script to assess the value of annotations for VQSR
2013-06-21 13:57:11 -04:00
Mark DePristo f726d8130a VariantRecalibrator bugfix for bad log10sumlog10 values
-- The VR, when the model is bad, may evaluate log10sumlog10 where some of the values in the vector are NaN. This case is now trapped in VR and handled as previously -- indicating that the model has failed and evaluation continues.
2013-06-21 12:28:53 -04:00
Mark DePristo dee51c4189 Error out when NCT and BAMOUT are used with the HaplotypeCaller
-- Currently we don't support writing a BAM file from the haplotype caller when nct is enabled.  Check in initialize if this is the case, and throw a UserException
2013-06-21 09:25:57 -04:00
David Roazen e03a5e9486 Update source release script in attempt to work around intermittent github issues
Github was intermittently rejecting large pushes that were in fact
fast-forward updates as being non-fast-forward. Try to prevent this
by ensuring that all refs are up-to-date and properly checked out
after branch filtering and before doing a source release.
2013-06-20 16:58:01 -04:00
David Roazen 0018af0c0a Update README file for the 2.6 release 2013-06-20 13:08:29 -04:00
Eric Banks 6977d6e2a7 Merge remote-tracking branch 'unstable/master' 2013-06-20 12:14:33 -04:00
Eric Banks 9f979fdc81 Merge pull request #297 from broadinstitute/md_vcfversion2
Better GATK version and command line output
2013-06-20 09:11:36 -07:00
Mark DePristo fdfe4e41d5 Better GATK version and command line output
-- Previous version emitted command lines that look like:

##HaplotypeCaller="analysis_type=HaplotypeCaller input_file=[private/testdata/reduced.readNotFullySpanningDeletion.bam] ..."

the new version provides additional information on when the GATK was run and the GATK version in a nicer format:

 ##GATKCommandLine=<ID=HaplotypeCaller,Version=2.5-206-gbc7be2b,Date="Thu Jun 20 11:09:01 EDT 2013",Epoch=1371740941197,CommandLineOptions="analysis_type=HaplotypeCaller input_file=[private/testdata/reduced.readNotFullySpanningDeletion.bam] read_buffer_size=null phone_home=AWS ...">

 -- Additionally, the command line options are emitted sequentially in the file, so you can see a running record of how a VCF was produced, such as this example from the integration test:

 ##GATKCommandLine=<ID=HaplotypeCaller,Version=2.5-206-gbc7be2b,Date="Thu Jun 20 11:09:01 EDT 2013",Epoch=1371740941197,CommandLineOptions="lots of stuff">
 ##GATKCommandLine=<ID=SelectVariants,Version=2.5-206-gbc7be2b,Date="Thu Jun 20 11:16:23 EDT 2013",Epoch=1371741383277,CommandLineOptions="lots of stuff">

 -- Removed the ProtectedEngineFeaturesIntegrationTest
 -- Actual unit tests for these features!
2013-06-20 11:19:13 -04:00
Mark DePristo 701d70401f Merge pull request #296 from broadinstitute/md_pubprotfix
Fix public / protected dependency
2013-06-19 17:17:21 -07:00
Mark DePristo 0672ac5032 Fix public / protected dependency 2013-06-19 19:42:09 -04:00
Eric Banks 74415a6a2a Merge pull request #292 from broadinstitute/vrr_analyzeCovariates
Added the AnalyzeCovariates tool to generate BQSR quality assessment plots.
2013-06-19 13:26:59 -07:00
Valentin Ruano-Rubio 1f8282633b Removed plots generation from the BaseRecalibration software
Improved AnalyzeCovariates (AC) integration test.
Renamed AC test files ending with .grp to .table

Implementation:

* Removed RECAL_PDF/CSV_FILE from RecalibrationArgumentCollection (RAC). Updated rest of the code accordingly.
* Fixed BQSRIntegrationTest to work with new changes
2013-06-19 14:47:56 -04:00
Valentin Ruano-Rubio 08f92bb6f9 Added AnalyzeCovariates tool to generate BQSR assessment quality plots.
Implemtation details:

* Added tool class *.AnalyzeCovariates
* Added convenient addAll method to Utils to be able to add elements of an array.
* Added parameter comparison methods to RecalibrationArgumentCollection class in order to verify that multiple imput recalibration report are compatible and comparable.
* Modified the BQSR.R script to handle up to 3 different recalibration tables (-BQSR, -before and -after) and removed some irrelevant arguments (or argument values) from the output.
* Added an integration test class.
2013-06-19 14:38:02 -04:00
Mark DePristo fb114e34fe Merge pull request #295 from broadinstitute/dr_remove_PrintReads_ds_argument
PrintReads: remove -ds argument
2013-06-19 10:55:10 -07:00
droazen 573ecadecc Merge pull request #294 from broadinstitute/dr_handle_zero_length_cigar_elements
SAMDataSource: always consolidate cigar strings into canonical form
2013-06-19 10:32:22 -07:00
David Roazen 51ec5404d4 SAMDataSource: always consolidate cigar strings into canonical form
-Collapses zero-length and repeated cigar elements, neither of which
 can necessarily be handled correctly by downstream code (like LIBS).

-Consolidation is done before read filters, because not all read filters
 behave correctly with non-consoliated cigars.

-Examined other uses of consolidateCigar() throughout the GATK, and
 found them to not be redundant with the new engine-level consolidation
 (they're all on artificially-created cigars in the HaplotypeCaller
 and SmithWaterman classes)

-Improved comments in SAMDataSource.applyDecoratingIterators()

-Updated MD5s; differences were examined and found to be innocuous

-Two tests: -Unit test for ReadFormattingIterator
            -Integration test for correct handling of zero-length
             cigar elements by the GATK engine as a whole
2013-06-19 13:29:01 -04:00
David Roazen 23ee192d5e PrintReads: remove -ds argument
-This argument was completely redundant with the engine-level -dfrac
 argument.

-Could produce unintended consequences if used in conjunction with
 engine-level downsampling arguments.
2013-06-19 13:22:44 -04:00
David Roazen 0be788f0f9 Fix typo in snpEff documentation 2013-06-19 13:15:24 -04:00
chartl a3d6ad55f9 Merge pull request #271 from broadinstitute/chartl_extend_genotypeconcordance_documentation
Extend Genotype Concordance Documentation
2013-06-19 09:03:05 -07:00
Chris Hartl af275fdf10 Extend the documentation of GenotypeConcordance to include notes about Monomorphic and Filtered VCF records.
Address Geraldine's comments - information on moltenization and explanation of fields

Fix paren
2013-06-19 12:01:58 -04:00
amilev 28a8d74290 Merge pull request #293 from broadinstitute/md_catvariants
CatVariants accepts reference files ending in any standard extension
2013-06-19 08:36:58 -07:00
Mark DePristo 15171c07a8 CatVariants accepts reference files ending in any standard extension
-- [resolves #49339235] Make CatVariants accept reference files ending in .fa (not only .fasta)
2013-06-19 11:10:36 -04:00