rpoplin
b8b23b931e
Merge pull request #807 from broadinstitute/rhl_handle_cigar
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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
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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
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* 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
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Introductory GATK CRAM support
2015-01-30 12:55:47 -05:00
Ron Levine
9d4b876ccd
Process X and = CIGAR operators
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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.
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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
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Added -trimAlternates argument to SelectVariants
2015-01-22 05:05:42 -05:00
Phillip Dexheimer
72f76add71
Added -trimAlternates argument to SelectVariants
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* 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
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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
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- 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
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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
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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
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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
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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:
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* 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
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* 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
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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
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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.
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-- 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
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Rhl pairhmm log stderr
2015-01-07 12:41:10 -05:00
rpoplin
99ff5fb75b
Merge pull request #797 from broadinstitute/vrr_ploidy_limitation_removal
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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
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Story:
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- 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
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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
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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
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Rhl read backed phasing
2015-01-05 09:47:25 -05:00
rpoplin
6f566a0e66
Merge pull request #793 from broadinstitute/mf_xhmm_add_genotyping
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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
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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
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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
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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
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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
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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
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Rhl variant multiallelic annotations
2014-12-18 09:11:42 -05:00
Ron Levine
08790e1dab
Fix mmultiallelic info field annotation for VariantAnnotator
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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
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-- 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