Commit Graph

1275 Commits (44e5965a4bb2776fc0adbf7e1e9d635626ec4aeb)

Author SHA1 Message Date
Ron Levine 44e5965a4b Change GC Content value type from Integer to Float 2015-02-25 13:56:42 -05:00
Ron Levine 2cbaef2fb2 Throw exception for -dcov argument given to ActiveRegionWalkers 2015-02-19 08:24:39 -05:00
Ron Levine c3ff6df252 StrandAlleleCountsBySample can only be called from HaplotypeCaller 2015-02-12 13:43:48 -05:00
Phillip Dexheimer 92c7c103c1 GenotypeConcordance: monomorphic sites in truth are no longer called "Mismatching Alleles" when the comp genotype has an alternate allele
* PT 84700606
2015-02-07 15:54:38 -05:00
rpoplin b8b23b931e Merge pull request #807 from broadinstitute/rhl_handle_cigar
Process X and = CIGAR operators
2015-02-01 11:09:52 -05:00
Phillip Dexheimer 3354c07b1c Added optional element "includeUnmapped" to the PartitionBy annotation
* The value of this element (default true) determines whether Queue will explicitly run this walker over unmapped reads
 * This patch fixes a runtime error when FindCoveredIntervals was used with Queue
 * PT 81777160
2015-01-31 15:47:57 -05:00
Ron Levine 9d4b876ccd Process X and = CIGAR operators
Add simple BaseRecalibrator integration test for CIGAR = and X operators
2015-01-29 17:00:00 -05:00
Khalid Shakir 1808c90d2a Added introductory CRAM support.
Replaced usage of GATKSamRecordFactory with calls to wrapper GATKSAMRecord extending SAMRecord.
Minor other updates for test changes.
Added exampleCRAM.cram generated by GATK, with .bai and .crai indexes generated by CRAMTools.
CRAM-to-CRAM test disabled due to https://github.com/samtools/htsjdk/issues/148
Using exampleBAM.bam input, outputs of GATK's generated CRAM match CRAMTools generated CRAM, but not samtools/PrintReads SAM output, as things like insert sizes are different.
If required for other tools, CRAM indexes must be generated via CRAMTools until we can generate them via CRAMFileWriter.

Generation of exampleCRAM.cram:
* java -jar target/executable/GenomeAnalysisTK.jar -T PrintReads -R public/gatk-utils/src/test/resources/exampleFASTA.fasta -I public/gatk-utils/src/test/resources/exampleBAM.bam -o public/gatk-utils/src/test/resources/exampleCRAM.cram
* java -jar cramtools-2.1.jar index -I public/gatk-utils/src/test/resources/exampleCRAM.cram
* java -jar cramtools-2.1.jar index -I public/gatk-utils/src/test/resources/exampleCRAM.cram --bam-style-index

CRAM generation by existing tools:
* samtools view -C -T public/gatk-utils/src/test/resources/exampleFASTA.fasta -o testSamtools.cram public/gatk-utils/src/test/resources/exampleBAM.bam
* java -jar cramtools-2.1.jar cram --ignore-md5-mismatch --capture-all-tags -Q -n -R public/gatk-utils/src/test/resources/exampleFASTA.fasta -I public/gatk-utils/src/test/resources/exampleBAM.bam -O testCRAMTools.cram
* java -jar target/executable/GenomeAnalysisTK.jar -T PrintReads -R public/gatk-utils/src/test/resources/exampleFASTA.fasta -I public/gatk-utils/src/test/resources/exampleBAM.bam -o testGATK.cram

CRAMTools view of the above:
* java -jar cramtools-2.1.jar bam --skip-md5-check -R public/gatk-utils/src/test/resources/exampleFASTA.fasta -I public/gatk-utils/src/test/resources/exampleCRAM.cram | tail -n 1
* java -jar cramtools-2.1.jar bam --skip-md5-check -R public/gatk-utils/src/test/resources/exampleFASTA.fasta -I testSamtools.cram | tail -n 1
* java -jar cramtools-2.1.jar bam --skip-md5-check -R public/gatk-utils/src/test/resources/exampleFASTA.fasta -I testCRAMTools.cram | tail -n 1
* java -jar cramtools-2.1.jar bam --skip-md5-check -R public/gatk-utils/src/test/resources/exampleFASTA.fasta -I testGATK.cram | tail -n 1
2015-01-26 14:47:39 -03:00
Phillip Dexheimer 72f76add71 Added -trimAlternates argument to SelectVariants
* PT 84021222
 * -trimAlternates removes all unused alternate alleles from variants.  Note that this is pretty aggressive for monomorphic sites
2015-01-21 21:33:35 -05:00
Ron Levine 804b2a36b7 Fix SplitNCigar reads exception by making the list of RNAReadTransformer non-abstract, add test for -fixNDN
Includes documentation changes for -fixNDN argument and the read transformer documentation.

Documentation changes to CombineVariants
2015-01-14 22:22:05 -05:00
rpoplin 0292d49842 Merge pull request #801 from broadinstitute/pd_gatkvcfconstants
Collected VCF IDs and header lines into one place
2015-01-14 09:43:48 -05:00
Phillip Dexheimer 6190d660e0 Edits to work with the latest htsjdk release:
* TextCigarCodec.decode() is now static, and the getSingleton() method is gone
 * MergingSamRecordIterator now wants a Collection<SamReader> rather than Collection<SAMFileReader> in the constructor
 * SeekableBufferedStream now correctly reads the requested number of bytes, removed workaround in GATKBAMIndex
2015-01-13 21:32:10 -05:00
Phillip Dexheimer b73e9d506a Added GATKVCFConstants and GATKVCFHeaderLines to consolidate the GATK-specific VCF annotations
* Removed unused annotations (CCC and HWP)
 * Renamed one of the two GC annotations to "IGC" (for Interval GC)
 * Revved picard & htsjdk (GATK constants are now removed from htsjdk)
 * PT 82046038
2015-01-13 21:32:09 -05:00
Laura Gauthier 6b2bd5ed09 Address user-reported bug featuring "trio" family with two children, one parent
Add test to cover case with family of one parent, two children
2015-01-13 18:35:44 -05:00
Ryan Poplin 2e5f9db758 Raising per-sample limits on the number of reads in ART and HC.
-- Active Region Traversal was using per sample limits on the number of reads that were too low, especially now that we are running one sample at a time. This caused issues with high confidence variants being dropped in high coverage data.
-- HaplotypeCallerGVCFIntegrationTest PL/annotation changes due to using more reads in those tests
-- Removed a CountReadsInActiveRegionsIntegrationTest test for excessive coverage because the read coverage no longer goes over the limits in ART
2015-01-09 11:21:42 -05:00
rpoplin 03203e249e Merge pull request #792 from broadinstitute/rhl_pairhmm_log_stderr
Rhl pairhmm log stderr
2015-01-07 12:41:10 -05:00
Valentin Ruano-Rubio aae04b6122 Fixes explicit limitation of the maximum ploidy of the reference-confidence model
Story:
=====

 - https://www.pivotaltracker.com/story/show/83803796

Changes:
=======

  - From a fix maximum ploidy indel RCM likelihood cache to a
    dynamically resizable one.
  - Used the occassion to removed an unused and deprecated method from ReferenceConfidenceModel

Testing:
=======

  - Added integration test to check on ploidies larger than the previous limit of 20.
2015-01-07 10:43:22 -05:00
Ron Levine b4fda38922 Use logging system instead of stderr 2015-01-05 14:04:10 -05:00
Laura Gauthier 88b6f3aa50 Change []-type arrays to lists so argument parsing works in VCF header commandline output 2015-01-05 10:21:06 -05:00
rpoplin 3240b3538a Merge pull request #794 from broadinstitute/rhl_read_backed_phasing
Rhl read backed phasing
2015-01-05 09:47:25 -05:00
Ron Levine c6840124fe clean up, add final 2015-01-04 23:01:24 -05:00
Ron Levine 85dc703461 Add TestMergeIntoMNP() and TestReallyMergeIntoMNP() 2015-01-01 09:51:20 -05:00
Ron Levine bb94833750 Add more tests 2014-12-30 22:45:44 -05:00
Ron Levine 714d575e3b correct reference file name 2014-12-25 14:00:39 -05:00
Ron Levine a7fba5c209 restructure and add more tests 2014-12-25 13:57:54 -05:00
Ron Levine 64375f6341 Messages that were going to stdout now going to stderr
Make PairHMM outputs go to stderr instead of stdout

Change output from stdout to stderr in close()

Updated lib with output going to stderr
2014-12-23 11:03:29 -05:00
Ron Levine 069398ad46 Added more tests and documentation 2014-12-19 12:57:43 -05:00
Laura Gauthier a9694951d2 Add error handling for genotypes that are called but have no PLs 2014-12-18 15:03:20 -05:00
Geraldine Van der Auwera b0e615251b Updated VQSR tool docs 2014-12-18 12:59:37 -05:00
rpoplin 4a2ac38308 Merge pull request #790 from broadinstitute/rp_nsubtil_fix-snp-detection
BQSR bug fix from @nsubtil
2014-12-18 09:19:53 -05:00
Ron Levine 08790e1dab Fix mmultiallelic info field annotation for VariantAnnotator
Add multi-allele test for info field annotations

Fix to process all types of INFO annotations

roll back to previous version, removes INFO and FORMAT

Correct @return for VariantAnnotatorEngine.getNonReferenceAlleles()

Enhance comments and clean up multi-allelic logic, handle header info number = R

only parse counts of A & R

Add INFO for AC

update MD5

Performance enhancement, only parse multiallelic with a count A or R

Make argument final in getNonReferenceAlleles()

Code cleanup, add exceptions for bad expression/allele size mismatch and missing header info for an expression

Change exception to warning for expression value/number of alleles check

remove adevertised exceptions
2014-12-17 22:21:00 -05:00
Ron Levine ba949389c5 matchHaplotypeAlleles() no longer calls alleleSegregationIsKnown(), added a TODO to investigate 2014-12-17 14:02:24 -05:00
Ryan Poplin d84970ff75 BQSR bug fix from @nsubtil
-- Ignore SNP matches that lie outside the clipped read window
-- This fixes an issue where GATK would skip the entire read if a SNP is entirely
contained within a sequencing adapter.
2014-12-17 10:04:37 -05:00
Ron Levine 56f8e4f9cf Add comments, alleleSegregationIsKnown() check is added to matchHaplotypeAlleles() 2014-12-17 03:25:26 -05:00
Laura Gauthier 011843c569 Fixed huge bug from 9895005a (CombineGVCFs used to stop after the first contig) 2014-12-16 12:43:32 -05:00
rpoplin bcc6b73e9b Merge pull request #786 from broadinstitute/pd_variantstotable_sma
Fix VariantsToTable output of FORMAT record lists when -SMA is specified
2014-12-16 10:37:22 -05:00
Valentin Ruano-Rubio 736a857e82 Fixing CombineGVCFs that writes out the wrong REF allele
Story:
=====

  - https://www.pivotaltracker.com/story/show/83259038

Changes:
=======

  - Done minimal changes to make the fix after an arduous attempt to understand
    CombineGVCFs code.

Test:
====

  - Added a integration test to explicitly test for the bug.

  - Updated a md5 changes as the bug was actually affecting one of the existing
    integration tests.
2014-12-13 22:38:24 -05:00
Phillip Dexheimer 71bdfbe465 Fix VariantsToTable output of FORMAT record lists when -SMA is specified
* PT 84242218
 * Note that FORMAT fields behave the same as INFO fields - if the annotation has a count of A (one entry per Alt Allele), it is split across the multiple output lines.  Otherwise, the entire list is output with each field
2014-12-10 21:41:15 -05:00
rpoplin bf2911d62c Merge pull request #783 from broadinstitute/pd_splitsamfile
Fix NPE in SplitSamFile
2014-12-08 09:39:03 -05:00
Valentin Ruano-Rubio 385186e11b Makes GQ of Hom-Ref Blocks in GVCF output to be consistent with PLs
Story:
-----

  - https://www.pivotaltracker.com/story/show/83800586

Changes:
-------

  - In GVCFWriter GQ is now recalculated out of the fianl PL array for the block.

Testing:
-------

  - Updated affected integration test md5s
2014-12-07 16:45:32 -05:00
Phillip Dexheimer a5dee8a42e Fix NPE in SplitSamFile
* PT 82892316
  * Added integration test
  * Fixed similar error in debug output of HC
2014-12-07 10:37:30 -05:00
Ron Levine c9175eeee8 Renamed PhasingUtilitiesUnitTest to PhasingUtilsUnitTest 2014-12-02 18:20:12 -05:00
Ron Levine b8f0f3fdd2 Add argument for loading the vector HMM library once 2014-12-02 10:13:56 -05:00
Ron Levine 386aeda022 Add HaplotypeCaller argument so integration tests can specify the hardware dependent PairHMM sub-implementation 2014-11-25 21:53:53 -05:00
Ron Levine 34241a62f6 Use a publicly accessible sequence file 2014-11-24 11:18:21 -05:00
Ron Levine 6ff698c556 Added HP and non-HP tests for matchHaplotypeAlleles(), added a nominal test for mergeIntoMNPvalidationCheck() 2014-11-24 11:08:04 -05:00
Ron Levine 61e1a3ecd1 Added the framework for testing the PhasingUtilies methods matchHaplotypeAlleles() and reallyMergeIntoMNP() 2014-11-22 22:01:39 -05:00
Menachem Fromer 9b73c8a841 Fix MNP merging bugs 2014-11-21 06:42:51 -05:00
rpoplin 00027e1555 Merge pull request #774 from broadinstitute/ldg_makeSelectVariantsTrimAlleles
Add -trim argument to SelectVariants to trim alleles to minimal represen...
2014-11-13 13:58:13 -05:00
Ron Levine 67656bab23 Resolved conflict during rebasing
Add more logging to annotators, change loggers from info to warn

Add comments to testStrandBiasBySample()

Clarify comments in testStrandBiasBySample

remove logic for not prcossing an indel if strand bias (SB) was not computed

remove per variant warnings in annotate()

Log warnings if using the wrong annotator or missing a pedgree file

Log test failures once in annotate(), because HaplotypeCaller does not call initialize(). Avoid using exceptions

Fix so only log once in annotate(), Hardey-Weinberg does not require pedigree files, fix test MD5s so pass

Check if founderIds == null

Update MD5s from HaplotypeCaller integrations tests and clean up code

Change logic so SnpEff does not throw excpetions, change engine to utils in imports

Update test MD5s, return immediately if cannot annotate in SnpEff.initialization()

Post peer review, add more logging warnings

Update MD5 for testHaplotypeCallerMultiSampleComplex1, return null if PossibleDeNovo.annotate() is not called by VariantAnnotator
2014-11-12 02:45:49 -05:00