Commit Graph

13833 Commits (e1862a04a8e1ea27dd4d37010cc4b0d082474513)

Author SHA1 Message Date
Geraldine Van der Auwera e1862a04a8 Merge pull request #862 from broadinstitute/rhl_doc_args_incompatibility
Log a warning if using incompatible arguments in DepthOfCoverage
2015-03-11 13:08:53 -04:00
Ron Levine bee7f655b7 Log a warning if using incompatible arguments in DepthOfCoverage
Add reference gene list file
2015-03-10 18:14:21 -04:00
ldgauthier 6645669eca Merge pull request #818 from broadinstitute/mf_CheckNameInAssessNA12878
Mf check name in assess na12878
2015-03-10 10:33:05 -04:00
Mark Fleharty 957946c73c Change to AssessNA12878 to allow for analysis of files that specify name differing from NA12878.
Added an integration test to test the sampleNameToCompare option, and a VCF file for this test to run on.
2015-03-10 10:15:02 -04:00
Geraldine Van der Auwera 4bff024107 Merge pull request #819 from broadinstitute/rhl_fix_docs_npa_filter
Fix NotPrimaryAlignmentFilter documentation
2015-03-06 07:46:33 -05:00
Ron Levine 71d68c3d93 Fix NotPrimaryAlignmentFilter documentation 2015-03-05 20:30:46 -05:00
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
ldgauthier 83bd85d8de Merge pull request #817 from broadinstitute/ldg_fixQueueTests
Change UG @PartitionBy to fix Queue tests
2015-03-02 09:49:17 -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
Laura Gauthier 2d992ad818 Modify assessment/site reporting criteria for better bookkeeping
Make sure -allSites outputs TPs that have discordance genotypes (although we won't know they're discordant)
Make AssessNA12878 output report record the name of the VCF from which the assessment was derived
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
Geraldine Van der Auwera 21390575dd Merge pull request #816 from broadinstitute/rhl_gc_content_value_type
Change GC Content value type from Integer to Float
2015-02-26 15:26:28 -05:00
Ron Levine 44e5965a4b Change GC Content value type from Integer to Float 2015-02-25 13:56:42 -05:00
Geraldine Van der Auwera f3a57a6b07 Merge pull request #811 from broadinstitute/seru71_fix_MateSameStrandFilter
Corrected logical expression in MateSameStrandFilter
2015-02-23 17:57:10 -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
jmthibault79 9491c0333f Merge pull request #813 from broadinstitute/rhl_throw_exception_dcov
Throw exception for -dcov argument given to ActiveRegionWalkers
2015-02-19 13:43:32 -05:00
Ron Levine 2cbaef2fb2 Throw exception for -dcov argument given to ActiveRegionWalkers 2015-02-19 08:24:39 -05:00
rpoplin b5f20bbb00 Merge pull request #806 from broadinstitute/ldg_updateNISTinNA12878KB
Update NA12878KB NIST Genomes-in-a-Bottle from v2.17 to v2.18
2015-02-17 11:37:44 -05:00
Laura Gauthier 72166eee5c Update NA12878KB NIST Genomes-in-a-Bottle from v2.17 to v2.18
Use all sites, not just high confidence
2015-02-17 08:17:57 -05:00
jmthibault79 207f0a69df Merge pull request #809 from broadinstitute/rhl_annotate_strand_allele_counts
StrandAlleleCountsBySample can only be called from HaplotypeCaller
2015-02-12 16:33:35 -05:00
Ron Levine c3ff6df252 StrandAlleleCountsBySample can only be called from HaplotypeCaller 2015-02-12 13:43:48 -05:00
seru71 3ee0311fdb corrected logical expression in MateSameStrandFilter
Signed-off-by: David Roazen <droazen@broadinstitute.org>
2015-02-12 12:21:44 -05:00
rpoplin 893e8ff9c4 Merge pull request #810 from broadinstitute/pd_monoallelic_concordance
GenotypeConcordance: monomorphic sites in truth are no longer...
2015-02-10 15:42:40 -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
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