Commit Graph

14008 Commits (19bbe45cbc3960bcb70b6bfb74bdb4e73e762851)

Author SHA1 Message Date
rpoplin b8b23b931e Merge pull request #807 from broadinstitute/rhl_handle_cigar
Process X and = CIGAR operators
2015-02-01 11:09:52 -05:00
pdexheimer cf58d671d2 Merge pull request #803 from broadinstitute/pd_toggle_unmapped_scatter
Added optional element "includeUnmapped" to the PartitionBy annotation
2015-01-31 16:02:15 -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
rpoplin d561fc5edc Merge pull request #805 from broadinstitute/ks_gatk_cram
Introductory GATK CRAM support
2015-01-30 12:55:47 -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
Khalid Shakir de3ca65232 Bumping HTSJDK version to pickup a bug fix for CRAM. 2015-01-26 14:47:39 -03:00
Valentin Ruano Rubio e26e55efe1 Merge pull request #802 from broadinstitute/pd_selectvariants_subset
Added -trimAlternates argument to SelectVariants
2015-01-22 05:05:42 -05:00
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
jmthibault79 d209699485 Merge pull request #804 from broadinstitute/jt_read_filters
Allows users to disable the DuplicateReadFilter
2015-01-21 15:45:48 -05:00
Joel Thibault 5ce34d81b8 Allows users to disable specific read filters from the command line
- enable this for DuplicateReadFilter only
- enable the @DisabledReadFilters annotation to do this at the Walker level
2015-01-21 13:17:29 -05:00
Geraldine Van der Auwera 7102477168 Merge pull request #798 from broadinstitute/rhl_split_n_cigar_reads_exception
Rhl split n cigar reads exception
2015-01-15 00:20:49 -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
rpoplin 8599132713 Merge pull request #800 from broadinstitute/ldg_CGPpedError
Address user-reported bug featuring "trio" family with two children, one...
2015-01-14 09:35:33 -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
rpoplin cf4ac4a388 Merge pull request #799 from broadinstitute/rp_fix_active_region_downsampling
Raising per-sample limits on the number of reads in ART and HC.
2015-01-09 12:45:58 -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
rpoplin 99ff5fb75b Merge pull request #797 from broadinstitute/vrr_ploidy_limitation_removal
MERGE AFTER TEST PASS: Fixes explicit limitation of the maximum ploidy of the reference-confide...
2015-01-07 12:38:19 -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 7d58544f17 Do not use logger, write to stderr, could not get the correct logger dependency in pom.xml 2015-01-06 10:32:11 -05:00
rpoplin ef32c44688 Merge pull request #795 from broadinstitute/ldg_VQSRcmdlineOutput
VQSR VCF header command line now contains annotations and tranche levels
2015-01-05 14:59:04 -05:00
rpoplin 1d5996dd1d Merge pull request #796 from broadinstitute/rp_update_bundle_Axiom_poly
Adding Axiom_Exome_Plus.sites_only.all_populations.poly.vcf to the resou...
2015-01-05 14:53:45 -05:00
Ryan Poplin 10b23bfb04 Adding Axiom_Exome_Plus.sites_only.all_populations.poly.vcf to the resource bundle because it is used in the v3.3 best practices 2015-01-05 14:52:31 -05:00
Ron Levine 26c46ae05e Change logger.info to logger.error 2015-01-05 14:14:02 -05:00
Ron Levine b4fda38922 Use logging system instead of stderr 2015-01-05 14:04:10 -05:00
Laura Gauthier e28ee24fc6 Update private single sample pipeline script 2015-01-05 12:11:21 -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
rpoplin 6f566a0e66 Merge pull request #793 from broadinstitute/mf_xhmm_add_genotyping
Add option to genotype additional user-defined interval lists
2015-01-05 09:46:06 -05:00
rpoplin ac10b9c3cd Merge pull request #791 from broadinstitute/ldg_fixCGPbug
Add error handling for genotypes that are called but have no PLs
2015-01-05 09:40:38 -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
Menachem Fromer 11cd0080c3 Add option to genotype additional user-defined interval lists
Add Qscript 'ONLY_GENOTYPE_xhmmCNVpipeline' to genotype additional user-defined interval lists

Add Qscript 'ONLY_GENOTYPE_xhmmCNVpipeline' to genotype additional user-defined interval lists (and similar option to Qscript 'xhmmCNVpipeline')
2014-12-21 13:02:17 -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
ldgauthier a4a9e73ec8 Merge pull request #789 from broadinstitute/gg_update_vqsr_example
Updated VQSR tool docs
2014-12-18 13:32:15 -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
rpoplin 071389b507 Merge pull request #785 from broadinstitute/rhl_variant_multiallelic_annotations
Rhl variant multiallelic annotations
2014-12-18 09:11:42 -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