Commit Graph

11899 Commits (48c699eec666496f0f3bed0a8a9e65fa2fa1fc74)

Author SHA1 Message Date
Eric Banks 48c699eec6 Merge pull request #54 from broadinstitute/md_improve_kb
Many improvements to NA12878 KB
2013-02-22 05:20:06 -08:00
Mark DePristo 8ac6d3521f Vast improvements to AssessNA12878 code and functionality
-- AssessNA12878 now breaks out multi-allelics into bi-allelic components.  This means that we can properly assess multi-allelic calls against the bi-allelic KB
-- Refactor AssessNA12878, moving into assess package in KB.  Split out previously private classes in the walker itself into separate classes.  Added real docs for all of the classes.
-- Vastly expand (from 0) unit tests for NA12878 assessments
-- Allow sites only VCs to be evaluated by Assessor
-- Move utility for creating simple VCs from a list of string alleles from GATKVariantContextUtilsUnitTest to GATKVariantContextUtils
-- Assessor bugfix for discordant records at a site.  Previous version didn't handle properly the case where one had a non-matching call in the callset w.r.t. the KB, so that the KB element was eaten during the analysis.  Fixed.  UnitTested
-- See GSA-781 -- Handle multi-allelic variants in KB for more information
-- Bugfix for missing site counting in AssessNA12878.  Previous version would count N misses for every missed value at a site.  Not that this has much impact but it's worth fixing
-- UnitTests for BadSitesWriter
-- UnitTests for filtered and filtering sites in the Assessor
-- Cleanup end report generation code (simply the code).  Note that instead of "indel" the new code will print out "INDELS"
-- Assessor DoC calculations now us LIBS and RBPs for the depth calculation.  The previous version was broken for reduced reads.  Added unit test that reads a complex reduced read example and matches the DoC of this BAM with the output of the GATK DoC tool here.
-- Added convenience constructor for LIBS using just SAMFileReader and an iterator.  It's now easy to create a LIBS from a BAM at a locus.  Added advanceToLocus function that moves the LIBS to a specific position.  UnitTested via the assessor (which isn't ideal, but is a proper test)
2013-02-21 20:43:12 -05:00
Mark DePristo 29319bf222 Improved allele trimming code in GATKVariantContextUtils
-- Now supports trimming the alleles from both the reverse and forward direction.
-- Added lots of unit tests for forwrad allele trimming, as well as creating VC from forward and reverse trimming.
-- Added docs and tests for the code, to bring it up to GATK spec
2013-02-21 12:01:43 -05:00
Mark DePristo f714ecc0ae Cleanup and improvements to NA12878 KB consensus creation
-- Extract consensus creation routines into ConsensusMaker, and added unit tests
-- Consensus algorithm now only takes the last added call for any call set in the consensus.  So if you re-review a site that consensus result is always your most recent view
-- If you have a TP and a FP, now the site is considered DISCORDANT, not a FP.  This is better.
-- Move consensus GT tests into ConsensusMakerUnitTest
-- NA12878 KB updates consensus, removing old entries when present.  The previous version of the KB update function would add duplicates when reviewing, so when you reviewed a site, there would actually be two consensus records, the previous one and the new one including your review.  The new algorithm removes old entries before adding the new consensus, so that the consensus track always reflects the most recent results
-- Don't include duplicate call set names in the consensus supporting call set name
2013-02-21 12:01:38 -05:00
depristo 09b444de26 Merge pull request #51 from broadinstitute/eb_optimize_hc_haplotype_comparisons
Haplotype/Allele based optimizations for the HaplotypeCaller that knock ...
2013-02-21 07:16:28 -08:00
Eric Banks 6996a953a8 Haplotype/Allele based optimizations for the HaplotypeCaller that knock off nearly 20% of the total runtime (multi-sample).
These 2 changes improve runtime performance almost as much as Ryan's previous attempt (with ID-based comparisons):
* Don't unnecessarily overload Allele.getBases() in the Haplotype class.
  * Haplotype.getBases() was calling clone() on the byte array.
* Added a constructor to Allele (and Haplotype) that takes in an Allele as input.
  * It makes a copy of he given allele without having to go through the validation of the bases (since the Allele has already been validated).
  * Rev'ed the variant jar accordingly.

For the reviewer: all tests passed before rebasing, so this should be good to go as far as correctness.
2013-02-21 10:14:11 -05:00
MauricioCarneiro a954cf3c01 Merge pull request #52 from broadinstitute/gg_more_gatkdocs_improvements_GSATDG-66-67 2013-02-21 06:48:35 -08:00
Geraldine Van der Auwera c3e01fea40 Added several more info types / annotations to GATKDocs
-- top-level walker type (locus, read etc)
-- parallelism options (nt or nct)
-- annotation type (for Variant Annotations)
-- downsampling settings that override engine defaults
-- reference window size
-- active region settings
-- partitionBy info
2013-02-21 03:12:40 -05:00
Eric Banks 0c34e47a87 Merge pull request #50 from broadinstitute/gg_new_ReassignOneMappingQualityFilter_GSATDG-77
New ReadFilter allows users to reassign a specific mapping quality...
2013-02-20 04:51:45 -08:00
Eric Banks 551d33686c Merge pull request #47 from broadinstitute/aw_reduceread_perf_1_GSA-761
Reduce memory footprint of SyntheticRead by replacing several Lists with...
2013-02-20 04:49:07 -08:00
Geraldine Van der Auwera e674b4a524 Added new ReadFilter that allows users to specifically reassign one single mapping quality to a different value. Useful for TopHat and other RNA-seq software users. 2013-02-20 01:24:45 -05:00
MauricioCarneiro 76810465aa Merge pull request #40 from broadinstitute/gg_retrieve_readfilters_GSATDG-63 2013-02-19 19:42:35 -08:00
Mark DePristo 910d966428 Extend timeout of NanoScheduler deadlock tests
-- The previous timeout of 1 second was just dangerously short.  Increase the timeout to 10 seconds
2013-02-19 20:25:25 -05:00
Eric Banks 9dfdb9528b Merge pull request #49 from broadinstitute/gda_hidden_ug_args
Hide arguments related to reference sample operation in UG - for interna...
2013-02-19 16:18:32 -08:00
Eric Banks 0055a6f1cd Merge pull request #45 from broadinstitute/mc_fix_indelrealigner_GSA-774
Fix to the Indel Realigner bug described in GSA-774
2013-02-19 16:16:48 -08:00
Guillermo del Angel 5a0a9bc488 Hide arguments related to reference sample operation in UG - for internal use only until paper is published and docs are polished. 2013-02-19 19:06:42 -05:00
depristo 334d124145 Merge pull request #48 from broadinstitute/rp_calcAlignmentByteArrayOffset_contract_GSA-772
Fix for calculating read pos rank sum test with reads that are informati...
2013-02-19 15:09:58 -08:00
Geraldine Van der Auwera faef85841b Added GATKDocs fct to indicate default Read Filters for each tool
-- Added getClazzAnnotations() as hub to retrieve various annotations values and class properties through reflection
-- Added getReadFilters() method to retrieve Read Filter annotations
-- getReadFilters() uses recursion to walk up the inheritance to also capture superclass annotations
-- getClazzAnnotations() stores collected info in doc handler root, which is unit.forTemplate in Doclet
-- Modified FreeMarker template to use the Readfilters info (displayed after arg table, before additional capabilities)
-- Tadaaa :-) #GSATDG-63 resolve
2013-02-19 16:12:29 -05:00
Mauricio Carneiro 371ea2f24c Fixed IndelRealigner reference length bug (GSA-774)
-- modified ReadBin GenomeLoc to keep track of softStart() and softEnd() of the reads coming in, to make sure the reference will always be sufficient even if we want to use the soft-clipped bases
-- changed the verification from readLength to aligned bases to allow reads with soft-clipped bases
-- switched TreeSet -> PriorityQueue in the ConstrainedMateFixer as some different reads can be considered equal by picard's SAMRecordCoordinateComparator (the Set was replacing them)
-- pulled out ReadBin class so it can be testable
-- added unit tests for ReadBin with soft-clips
-- added tests for getMismatchCount (AlignmentUtils) to make sure it works with soft-clipped reads

GSA-774 #resolve
2013-02-19 16:00:36 -05:00
Mauricio Carneiro 815028edd4 Added verbose error message to the PluginManager
-- added a logger.error with a more descriptive message of what the most likely cause of the error is

Typical error happens when a walker's global variable is not initialized properly (usually in test conditions). The old error message was very hard to understand "Could not create module because of an exception of type NullPointerException ocurred caused by exception null"
2013-02-19 16:00:35 -05:00
Alec Wysoker ab75e053da Reduce memory footprint of SyntheticRead by replacing several Lists with a single List of a small private static
class that contains the attributes that were scattered across the several Lists.
2013-02-19 15:33:33 -05:00
Ryan Poplin c025e84c8b Fix for calculating read pos rank sum test with reads that are informative but don't actually overlap the variant due to some hard clipping.
-- Updated a few integration tests for HC, UG, and UG general ploidy
2013-02-19 14:09:24 -05:00
Eric Banks 8eda0c50df Merge pull request #46 from broadinstitute/md_active_regions_GSA-770
ActivityProfile and ActiveRegions respects engine interval boundaries
2013-02-19 09:49:47 -08:00
Mark DePristo be45edeff2 ActivityProfile and ActiveRegions respects engine interval boundaries
-- Active regions are created as normal, but they are split and trimmed to the engine intervals when added to the traversal, if there are intervals present.
-- UnitTests for ActiveRegion.splitAndTrimToIntervals
-- GenomeLocSortedSet.getOverlapping uses binary search to efficiently in ~ log N time find overlapping intervals
-- UnitTesting overlap function in GenomeLocSortedSet
-- Discovered fundamental implementation bug in that adding genome locs out of order (elements on 20 then on 19) produces an invalid GenomeLocSortedSet.  Created a JIRA to address this: https://jira.broadinstitute.org/browse/GSA-775
-- Constructor that takes a collection of genome locs now sorts its input and merges overlapping intervals
-- Added docs for the constructors in GLSS
-- Update HaplotypeCaller MD5s, which change because ActiveRegions are now restricted to the engine intervals, which changes slightly the regions in the tests and so the reads in the regions, and thus the md5s
-- GenomeAnalysisEngineUnitTest needs to provide non-null genome loc parser
2013-02-18 10:40:25 -05:00
MauricioCarneiro e919d62156 Merge pull request #44 from broadinstitute/rp_hc_reference_padding 2013-02-17 21:46:58 -08:00
Ryan Poplin b7e9c342c7 Reducing the size of the reference padding in the HaplotypeCaller. 2013-02-17 11:09:00 -05:00
MauricioCarneiro 029de71a44 Merge pull request #43 from broadinstitute/md_qualutils_cleanup
Cleanup of QualityUtils
2013-02-16 12:59:26 -08:00
Mark DePristo 73a363b166 Update MD5s due to new QualityUtils calculations
-- Increase the allowed runtime of one UG integration test
-- The GGA indels mode runs two UG commands, and was barely under the 10 minute limit before.  Some updates can push this right over the edge.  Increased limit
-- CalibrateGenotypeLikelihoods runs on a small data set now, so it's faster
-- Updating MD5s due to more correct quality utils.  DuplicatesWalkers quality estimates have changed.  One UG test has different FS and rank sum tests because the conversion to phred scores are slightly (second decimal place) different
2013-02-16 07:31:38 -08:00
Mark DePristo 3b67aa8aee Final edge case bug fixes to QualityUtil routines
-- log10 functions in QualityUtils allow -Infinity to allow log10(0.0) values
-- Fix edge condition of log10OneMinusX failing with Double.MIN_VALUE
-- Fix another edge condition of log10OneMinusX failing with a small but not min_value double
2013-02-16 07:31:38 -08:00
Mark DePristo b393c27f07 QualityUtils now uses runtime argument checks instead of contract
-- There's some runtime cost for these tests, but it's not big enough to outweigh the value of catching errors quickly
2013-02-16 07:31:38 -08:00
Mark DePristo 3231031c1a Bugfix for FisherStrand
-- FisherStrand pValues can sum to slightly greater than 1.0, so they need to be capped to convert to a Phred-scaled quality score
2013-02-16 07:31:38 -08:00
Mark DePristo 9a29d6d4be Fix an catastrophic bug (WoW!) in the reference calculation of the UG
-- The UG was using MathUtils binomial probability backward, so that the estimated confidence was always NaN, and was as a side effect other utils converted this to a meaningless 0.0.  This is all because there wasn't a unit test.
-- I've fixed the calculation, so it's now log10 based, uses robust MathUtils and QualityUtils functions to compute probabilities, and added a unit test.
2013-02-16 07:31:38 -08:00
Mark DePristo 9e28d1e347 Cleanup and unit tests for QualityUtils
-- Fixed a few conversion bugs with edge case quals (ones that were very high)
-- Fixed a critical bug in the conversion of quals that was causing near capped quals to fall below their actual value.  Will undoubtedly need to fix md5s
-- More precise prob -> qual calculations for very high confidence events in phredScaleCorrectRate, trueProbToQual, and errorProbToQual.  Very likely to improve accuracy of many calculations in the GATK
-- Added errorProbToQual and trueProbToQual calculations that accept an integer cap, and perform the (tricky) conversion from int to byte correctly.
-- Full docs and unit tests for phredScaleCorrectRate and phredScaleErrorRate.
-- Renamed probToQual to trueProbToQual
-- Added goodProbability and log10OneMinusX to MathUtils
-- Went through the GATK and cleaned up many uses of QualityUtils
-- Cleanup constants in QualityUtils
-- Added full docs for all of the constants
-- Rename MAX_QUAL_SCORE to MAX_SAM_QUAL_SCORE for clarity
-- Moved MAX_GATK_USABLE_Q_SCORE to RecalDatum, as it's s BQSR specific feature
-- Convert uses of QualityUtils.errorProbToQual(1-x) to QualityUtils.trueProbToQual(x)
-- Cleanup duplicate quality score routines in MathUtils.  Moved and renamed MathUtils.log10ProbabilityToPhredScale => QualityUtils.phredScaleLog10ErrorRate. Removed 3 routines from MathUtils, and remapped their usages into the better routines in QualityUtils
2013-02-16 07:31:37 -08:00
MauricioCarneiro 307f709cc7 Merge pull request #42 from broadinstitute/yf_add_version_information_CL_option 2013-02-15 21:39:33 -08:00
Yossi Farjoun aa99a5f47c Added an option to print out the version string
@argument (-)-version
(should this be @hidden?)

Prints out the version to System.out and quit(0)
No tests. (any ideas on how to test this would be happily accepted)
2013-02-15 12:42:59 -05:00
MauricioCarneiro bbfbe1bc26 Merge pull request #41 from broadinstitute/jt_cmi_queue_packaging
ValidatingPileup was renamed to CheckPileup
2013-02-15 09:19:00 -08:00
droazen 664960373d Merge pull request #31 from broadinstitute/yf_fast_BAM_index_traversal
-re-enables fast BAM indexing
2013-02-15 09:12:32 -08:00
Joel Thibault 182a950202 ValidatingPileup was renamed to CheckPileup 2013-02-15 11:56:19 -05:00
MauricioCarneiro d80b99143f Merge pull request #37 from broadinstitute/rp_left_alignment_hc_contract_GSA-771 2013-02-15 08:32:45 -08:00
MauricioCarneiro 1dd284a5bb Merge pull request #39 from broadinstitute/tj_printreads_tag_for_bqsr_GSA-720
PrintReads writes a header when used with -BQSR
2013-02-15 07:18:28 -08:00
MauricioCarneiro b58a0eca6b Merge pull request #33 from broadinstitute/gg_more_gatkdocs_tweaks_GSATDG-62
Refactored GATKDocs categories some more ( GSATDG-62 )
2013-02-14 22:35:07 -08:00
MauricioCarneiro f2669c8438 Merge pull request #38 from broadinstitute/gda_hc_md5
Updated md5's from BiasedDownsamplerIntegrationTest that changed due to ...
2013-02-14 22:19:23 -08:00
Tad Jordan 6cb80591e3 PrintReads writes a header when used with -BQSR 2013-02-14 22:19:14 -05:00
Guillermo del Angel b18f216033 Updated md5's from BiasedDownsamplerIntegrationTest that changed due to changes in HaplotypeCaller - changing HashMaps to LinkedHashMaps changed ordering of reads presented to BiasedDownSampler which changed reads chosen, thereby marginally changing PL's and some site info. 2013-02-14 20:18:49 -05:00
Yossi Farjoun 3a7c8c13e2 Re-enabled fastBAMindexing by replacing the FileChannel with a SeekableBufferedStream
This helps a lot since FileChannel is very low-level and traversing the BAMIndex involves lots of short reads.

- Fixed a deterioration in BAMIndex due to rev'ed picard (see below)
- Added unit tests for SeekableBufferedStream
- Added integrationTests for GATKBAMIndex (in PileupWalkerIntegrationTest)
- Added a runtime-test to verify that the amount read equals the amount requested.
- Added failing tests with expectedExceptions
- Used a DataProvider to make code nicer
2013-02-14 17:51:15 -05:00
Ryan Poplin 871c8b3866 No need to consider haplotypes which Smith-Waterman aligns off the end of the large padded reference. 2013-02-14 11:18:10 -05:00
depristo 5cc5aedcd1 Merge pull request #34 from broadinstitute/md_longer_default_timeout
Extend default timeout to 20 minutes
2013-02-13 17:44:30 -08:00
Mark DePristo f92328a1a1 Extend default timeout to 20 minutes
-- The default of 10 minutes is right on the edge for some tests, and we really want a default not to enforce a max time (test should be short) but to stop testng from failing to terminate ever in the case where some test is truly hung
2013-02-13 17:43:40 -08:00
Geraldine Van der Auwera 6208742f7c Refactored GATKDocs categories some more ( GSATDG-62 )
-- Renamed ValidatePileup to CheckPileup since validation is reserved word
-- Renamed AlignmentValidation to CheckAlignment (same as above)
-- Refactored category definitions to use constants defined in HelpConstants
-- Fixed a couple of minor typos and an example error
-- Reorganized the GATKDocs index template to use supercategories
-- Refactored integration tests for renamed walkers (my earlier refactoring had screwed them up or not carried over)
2013-02-13 16:49:18 -05:00
depristo 357d196dad Merge pull request #32 from broadinstitute/yf_per-sample-downsampling_GSA_765
Fixed md5s for the per-sample downsampling IntegrationTests that were disabled.
2013-02-13 10:08:11 -08:00