Geraldine Van der Auwera
7681e89454
Merge pull request #869 from broadinstitute/gg_fix_vqsr_plots_GSA-860
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Switched VQSR tranches plot ordering rule
2015-03-13 10:46:55 -04:00
Geraldine Van der Auwera
3276a964f4
Merge pull request #871 from broadinstitute/pd_queue_unmapped_regression
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Regression: The new 'includeUnmapped' PartitionBy annotation was incorrectly set for HC
2015-03-13 10:42:52 -04:00
Phillip Dexheimer
6ffa295963
Regression: The new 'includeUnmapped' PartitionBy annotation was incorrectly set for HC
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Fixes #828
2015-03-13 00:24:57 -04:00
Geraldine Van der Auwera
aa4084d42f
Switched VQSR tranches plot ordering rule
2015-03-12 19:57:03 -04:00
ldgauthier
f5ec870964
Merge pull request #867 from broadinstitute/eb_combinegvcfs_option_to_break_blocks
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Adding option to CombineGVCFs to have it break blocks at every N sites.
2015-03-12 16:16:03 -04:00
Eric Banks
ea8a1edeb6
Adding option to CombineGVCFs to have it break blocks at every N sites.
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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
Geraldine Van der Auwera
5673ba9209
Merge pull request #866 from broadinstitute/gg_public_doc_dir_GSA-838
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Updated readme in public/doc to just point to the website. Fixes #838
2015-03-12 13:28:31 -04:00
Geraldine Van der Auwera
f8a081a262
Updated readme in public/doc to just point to the website
2015-03-12 11:52:48 -04:00
Geraldine Van der Auwera
e1862a04a8
Merge pull request #862 from broadinstitute/rhl_doc_args_incompatibility
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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
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Add reference gene list file
2015-03-10 18:14:21 -04:00
ldgauthier
6645669eca
Merge pull request #818 from broadinstitute/mf_CheckNameInAssessNA12878
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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.
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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
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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
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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
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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)
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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* PT 84700606
2015-02-07 15:54:38 -05:00
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