Commit Graph

1285 Commits (c374d126d7c8b40cdec76c2fa7283c8c372d7ea7)

Author SHA1 Message Date
Kristian Cibulskis ab1053e83c It compiles, and produces results!
fixed NPE when normal contains no reads

first integration test (micro) and unit tests, also rename of MuTectHC -> M2

adding in standard GATK license terms

incorporated HOSTILE mode to PCR Error Correction

removed tumor and normal name parameters and cleaned up internal name handling

changes to allow for calling without a matched normal (technically, not true 'tumor-only' calling).  Used for panel-of-normals creation

additional regression tests, based on DREAM data.  Removed accidental addition of TandemRepeatAnnotator to default annotations

updated MD5 based on run from GSA4 to fix bamboo issue

reverted unneeded visibility changes
2015-03-13 18:28:01 -04:00
Geraldine Van der Auwera 39a972f348 Merge pull request #872 from broadinstitute/eb_create_rgq_format_field
Added the RGQ format annotation to monomorphic sites in the VCF output of GenotypeGVCFs. Fixes #870
2015-03-13 13:59:53 -04:00
Eric Banks 1ff9463285 Added the RGQ format annotation to monomorphic sites in the VCF output of GenotypeGVCFs.
Now, instead of stripping out the GQs for mono sites, we transfer them to the RGQ.
This is extremely useful for people who want to know how confident the hom ref genotype calls are.
Perhaps this is just what CRSP needs for pertinent negatives.

Note that I also changed the tool to no longer use the GenotypeSummaries annotation by default since
it was adding some seemingly unnecessary annotations (like mean GQ now that we keep the GQ around and
number of no-calls).  Let me know if this was a mistake (although Laura gave me a thumbs up).
2015-03-13 10:27:20 -04:00
Phillip Dexheimer 6ffa295963 Regression: The new 'includeUnmapped' PartitionBy annotation was incorrectly set for HC
Fixes #828
2015-03-13 00:24:57 -04:00
Eric Banks ea8a1edeb6 Adding option to CombineGVCFs to have it break blocks at every N sites.
Using --breakBandsAtMultiplesOf N will ensure that no reference blocks span across
genomic positions that are multiples of N.  This is especially important in the
case of scatter-gather where you don't want your scatter intervals to start in the
middle of blocks (because of a limitation in the way -L works in the GATK for VCF
records with the END tag).

For example, running with --breakBandsAtMultiplesOf 5 on this record:
1       69491   .       G       <NON_REF>       .       .       END=69523       GT:DP:GQ:MIN_DP:MIN_GQ:PL       ./.:94:99:82:99:0,120,1800

Will produce the following records:
1       69491   .       G       <NON_REF>       .       .       END=69494       GT:DP:GQ:MIN_DP:MIN_GQ:PL       ./.:94:99:82:99:0,120,1800
1       69495   .       C       <NON_REF>       .       .       END=69499       GT:DP:GQ:MIN_DP:MIN_GQ:PL       ./.:94:99:82:99:0,120,1800
1       69500   .       T       <NON_REF>       .       .       END=69504       GT:DP:GQ:MIN_DP:MIN_GQ:PL       ./.:94:99:82:99:0,120,1800
etc.

Added docs and a new test.
2015-03-12 14:42:10 -04:00
Valentin Ruano Rubio f8f2680142 Merge pull request #812 from broadinstitute/ldg_combineData_submit
New walker to combine WGS and WES data
2015-03-02 15:12:31 -05:00
Laura Gauthier aaf952469e Change UG @PartitionBy to fix Queue tests 2015-03-01 14:42:43 -05:00
Laura Gauthier 6ebcba5234 New walker to combine data for different formats of same sample that were called and VQSRed together; has functionality to combine only specified samples, omitting others (e.g. combine the uniquified NA12878s with -usn NA12878.variant51 -usn NA12878.variant102)
GenotypeGVCFs now has the ability to unique-ify samples so I can genotype together two different datasets containing the same sample
Modify InbreedingCoeff so that it works when genotyping uniquified samples
2015-03-01 12:44:32 -05:00
ldgauthier 8efaa97d84 Merge pull request #815 from broadinstitute/ldg_updateMulitallelicVAtestData
Update test data so it better reflects the multiallelic AC/AF annotation...
2015-03-01 12:10:25 -05:00
Ron Levine 44e5965a4b Change GC Content value type from Integer to Float 2015-02-25 13:56:42 -05:00
Laura Gauthier 4a493a7900 Update test data so it better reflects the multiallelic AC/AF annotation use case 2015-02-20 19:02:42 -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