Commit Graph

1459 Commits (e08940a5a892dd2a2dd53234e6c8cd704eb7fb1f)

Author SHA1 Message Date
Mark Fleharty 5a3756410c Merge pull request #1231 from broadinstitute/mf_fixBQSRIntegrationTest
Fixes testPRWithConflictingArguments_qqAndSQQ to use -ql rather than -q1
2015-11-23 17:08:30 -05:00
Geraldine Van der Auwera b0730c2b81 Merge pull request #1239 from broadinstitute/gvda_straggler_doc_fixes_1237
Improve doc block of GatherBqsrReports
Annotation doc enhancements (QD, InbreedingCoeff, ExcessHet and AS versions where applicable)
2015-11-22 13:58:20 -05:00
Geraldine Van der Auwera a7748368f8 Yet more doc improvements prior to 3.5 release
Improve doc block of GatherBqsrReports
    Annotation doc enhancements (QD, InbreedingCoeff, ExcessHet and AS versions where applicable)
2015-11-22 10:59:24 -05:00
Geraldine Van der Auwera 46ba0e519e Restore FindCoveredIntervals + add docs 2015-11-22 10:19:04 -05:00
Geraldine Van der Auwera 22fa1511be Merge pull request #1235 from broadinstitute/gvda_deprecate_useless_tools_1192
Deprecate tools that were outdated or redundant
2015-11-21 14:58:00 -05:00
Geraldine Van der Auwera 1cf66addaa Deprecate tools that were outdated or redundant
ReadAdaptorTrimmer (unsound and untested)
BaseCoverageDistribution (redundant with DiagnoseTargets)
CoveredByNSamplesSites (redundant with DiagnoseTargets)
FindCoveredIntervals (redundant with DiagnoseTargets)
VariantValidationAssessor (has a scary TODO -- REWRITE THIS TO WORK WITH VARIANT CONTEXT comment and zero tests)
LiftOverVariants, FilterLiftedVariants and liftOverVCF.pl (in #1106) (use Picard liftover tool)
sortByRef.pl (use Picard SortVCF)
ListAnnotations (useless)

Also deleted the java archive from the private repository (old junk we never use)
2015-11-20 22:49:40 -05:00
meganshand 2570cab24c Assorted documentation fixes, enhancements and reorganization.
See issues referenced by the pull request for details.
2015-11-20 22:44:46 -05:00
Mark Fleharty 1443ee8c7f Fixes testPRWithConflictingArguments_qqAndSQQ to use -ql rather than -q1 2015-11-20 11:23:02 -05:00
Ron Levine ccaddefa19 Validate VCF with sequence dictionary 2015-11-20 09:23:24 -05:00
Yossi Farjoun 4da0d1300c adding fraction informative reads annotation. 2015-11-18 08:39:47 -05:00
David Roazen 9d5be24778 Move GatherBqsrReports from private to protected 2015-11-10 17:40:58 -05:00
Laura Gauthier 25b8ba45f4 More allele-specific annotations: AS_QD and AS_InbreedingCoeff
Grouped default output annotations to keep them from getting dropped when -A is specified; addresses #918
Also refactored code shared by ExcessHet and InbreedingCoeff
2015-11-09 16:38:31 -05:00
vruano e3d5d96076 Added the AF indepdent calculator for any ploidy but seems that is not doing a good job for haploid
Addresses issue #1078 by implementing a any-ploidy version of the independent-allele-exact-ac-calculator already available for diploids.

Notice that this will change result somewhat when dealing with noisy data (low GQs).
2015-11-07 16:17:30 -05:00
Mark Fleharty 8857bc9b3f Resolves issue #1061 to use testid1 rather than testid in two integrationtests. 2015-11-05 22:20:20 -05:00
Eric Banks 975f8a8502 Merge pull request #1206 from broadinstitute/eb_suppress_alt_allele_warnings
Suppress emission of the scary warning message from genotyping to no …
2015-11-05 16:12:50 -05:00
Eric Banks 2cc7de4886 Suppress emission of the scary warning message from genotyping to no more than once in
anything but DEBUG logging mode.  Otherwise it fills up our output logs.
2015-11-05 14:19:21 -05:00
meganshand e4627ed5c3 Addressing comments 2015-11-04 11:00:01 -05:00
meganshand b5165b8d30 Fix for out of date VCF version output 2015-11-03 17:35:47 -05:00
ldgauthier 3d1dc303b3 Merge pull request #1197 from broadinstitute/ts_ve_nullPointer
Prevent null pointer exception in PrintMissingComp module
2015-11-02 14:42:50 -05:00
Takuto Sato 33462c7b50 Removed the line that caused a null pointer, as the information it logged was not useful. Updated docs and added an integration test to ensure the code no longer throws the exception. 2015-11-02 12:45:09 -05:00
Laura Gauthier f7eb5d3082 Enable family-level stratification (if a ped file is provided) 2015-10-28 09:55:04 -04:00
Laura Gauthier 68a2f1243d Finished draft of code for new map-combine-reduce annotation framework
All VQSR annotations can be generated in allele-specific mode
Pull out allele-specific annotations in AS_Standard annotation group
2015-10-27 09:44:49 -04:00
Laura Gauthier fcaf37279c Finished draft of code for new map-combine-reduce annotation framework
All VQSR annotations can be generated in allele-specific mode
Pull out allele-specific annotations in AS_Standard annotation group
2015-10-27 09:23:29 -04:00
Ron Levine 36ca9fe898 Allow LeftAlignAndTrimVariants to handle alleles longer than the default processing window 2015-10-25 20:33:56 -04:00
Ron Levine 795fe75886 Update doc for multiallelics, trimming is the default behavior 2015-10-22 04:04:09 -04:00
Takuto Sato df7a482335 VariantAnnotator now supports annotating FILTER field from an external resource.
Updated the docs.
2015-10-14 14:26:21 -04:00
Ron Levine 2bcded11cb VariantAnnotator checks alleles when annotationg with external resource 2015-10-08 17:01:30 -04:00
Eric Banks 622ec352bb Fix for combining records in which one has a spanning deletion and needs a padded reference allele.
This was erroring out and not working.
2015-10-02 16:28:16 -04:00
Kate Noblett 506958a0b7 Implemented a new VariantEval evaulation module, MetricsCollection. Fixed null pointer exception, updated tests. 2015-09-30 17:21:30 -04:00
Ron Levine 792142ec50 Implement BaseCounts per-sample 2015-09-30 08:59:11 -04:00
Samuel Lee c7f76b945e addressing PR comments 2015-09-24 15:42:51 -04:00
Samuel Lee 0dacf60012 Changed calls for RGQ=0 from 0/0 to ./. in output of GenotypeGVCFs. 2015-09-23 15:35:09 -04:00
Ron Levine 3ecabf7e45 Allow overriding ValidateVariants' hard-coded cutoff for allele length 2015-09-17 10:49:14 -04:00
meganshand 2507bf8d17 Fixed 7-PL genotypes in InbreedingCoeff tests 2015-09-14 12:00:45 -04:00
meganshand d767e1722e Excess Het P-value
Added input exception

Added header line

Updated MD5s

Changing more MD5s

Made edge case clearer

Fixed formatting

Changed mid-point to mode
2015-09-14 12:00:44 -04:00
Laura Gauthier 53b506a0b8 Make sure inputPriors get used if they are specified
Fix usage of AF prior (i.e. theta) in probability of non-reference calculation
Refactored duplicate functions
Updated docs for heterozygosity
2015-09-10 10:08:03 -04:00
Ron Levine 83a7012d69 Mask snps with --snpmask 2015-09-09 16:20:48 -04:00
Eric Banks b0dea2ccca Merge pull request #1150 from broadinstitute/eb_keep_iupac_in_IR
Don't have the Indel Realigner change IUPAC reference bases.
2015-09-04 13:43:34 -04:00
Eric Banks 5f76ae6a37 Don't have the Indel Realigner change IUPAC reference bases.
This change doesn't affect the performance of the Indel Realigner at all (as per tests).
This is just a request from the Picard side (where further testing is happening).
2015-09-04 13:42:23 -04:00
ldgauthier cad81a6181 Merge pull request #1149 from broadinstitute/ldg_fixCGPbugForAndrea
Fix bug when using --ignoreInputSamples
2015-09-04 11:17:15 -04:00
Ron Levine 29ac64f6ce Calculate GenotypeAnnotations before InfoFieldAnnotations 2015-09-03 09:22:46 -04:00
Laura Gauthier 4769ef8dad Fix bug when using --ignoreInputSamples 2015-09-02 09:27:06 -04:00
Samuel Lee 41256e1405 Added file-extension--dependent interval-list output to RealignerTargetCreator. 2015-08-31 11:22:18 -04:00
Mark Fleharty daeb55429e Adding Static Binning to BQSR 2015-08-24 13:36:17 -04:00
Ron Levine 2afe3f7a21 Make GenotypeGVCFs subset Strand Allele Counts intelligently 2015-08-22 08:33:09 -04:00
Bertrand Haas f61529d254 Logit transform to MQ + jitter MQ capped improves VQSR 2015-08-20 17:53:01 -04:00
Ron Levine 900fe3f675 Merge pull request #1132 from broadinstitute/rhl_rev_htsjdk
Move htsjdk & picard to rev 1.138
2015-08-20 11:58:41 -04:00
Bertrand Haas eae4c875a9 Logistic transform of MQ + jitter to capped MQ in VariantDataManager 2015-08-20 11:10:45 -04:00
Ron Levine beec624a63 Move htsjdk & picard to rev 1.138 2015-08-20 10:42:25 -04:00
Geraldine Van der Auwera 5a875cb841 Fixed missing code tag 2015-08-14 14:58:28 -04:00
Geraldine Van der Auwera 19bbe45cbc Updated licenses for 2015 2015-08-06 15:23:11 -04:00
David Benjamin 5fcc3788bd UnifiedGenotypingEngine queries VariantContext for model if not given 2015-08-05 15:30:37 -04:00
Eric Banks df033f674d Patch for the incorrect "fixing" of mates when supplementary alignments are present.
Note that this patch involves ignoring supplementary alignments.  Ideally we would want
to fix their mates properly but that would require a major refactoring of this soon-to-be
deprecated tool.
2015-08-05 12:55:39 -04:00
vruano 604fb7aaf8 Faster implementation of the active state profile value calculation when running HC with a single sample.
Find out about a dev-bug and added TODOs (reported in #1096).

Addresses issue #1095.

Conflicts:
	protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCaller.java
2015-07-30 10:56:05 -04:00
Valentin Ruano Rubio bb4c9fa1d3 Merge pull request #1099 from broadinstitute/vrr_magic_numbers
Extracted some constant expressions involved HC variation discovery a…
2015-07-29 13:38:23 -04:00
vruano 02c7876c72 Extracted some constant expressions involved HC variation discovery and genotyping.
Addreses issue #1092.
2015-07-29 11:58:13 -04:00
meganshand 4d4de27ba3 Removes unique(int maxSize) from KBestHaplotypeFinder 2015-07-28 15:54:21 -04:00
Louis Bergelson 9d9827f176 Merge pull request #1031 from broadinstitute/lb_update_for_java8
Updated gatk so it compiles with java 8
2015-07-28 11:09:19 -04:00
Valentin Ruano Rubio 3a3ff558c4 Merge pull request #1085 from broadinstitute/vrr_path_builder
ReferenceConfidenceModel likelihood calculation in non…
2015-07-28 10:48:03 -04:00
Geraldine Van der Auwera 43a37fc746 Merge pull request #1075 from broadinstitute/ldg_bamoutDocs
Add info about multiple input samples (as relevant for M2)
2015-07-27 16:56:36 -04:00
Geraldine Van der Auwera 5939b4c100 Merge pull request #1073 from broadinstitute/ldg_SV-MVtestNameFix
Fix logging name on SelectVariantsIntegrationTest::testInvertMendelia…
2015-07-27 16:54:59 -04:00
vruano 8f6daf70db Refactoring of ReferenceConfidenceModel likelihood calculation in non variant sites
Changed a division by -10.0 to a multiplication by -.1 in QualUtils (typically multiplication is faster than division).

Addresses performance issue #1081.
2015-07-26 08:33:46 -04:00
vruano 047aea9707 Address performance issue #1077 2015-07-23 13:44:10 -04:00
Laura Gauthier 4fefedfb0b Fix logging name on SelectVariantsIntegrationTest::testInvertMendelianViolationSelection() 2015-07-23 09:48:15 -04:00
Laura Gauthier 85b340caed Add info about multiple input samples (as relevant for M2)
Also generalize references to the tool/caller since this code is now shared by HC and M2
2015-07-23 09:46:10 -04:00
Valentin Ruano Rubio 66cf22b28f Merge pull request #1069 from broadinstitute/vrr_ad_genotype_gvcfs_bugfix
Fix AD propagation when subsetting alleles in non-diploid GenotypeGVCF.
2015-07-22 18:53:43 -04:00
vruano 315e193e51 Fix AD propagation when subsetting alleles in non-diploid GenotypeGVCF.
Addresses issue #913.

Also remove some commented out code and toxic debugging code that uses System.out/err.println.
2015-07-22 17:08:13 -04:00
Geraldine Van der Auwera 75081bee2b Merge pull request #1068 from broadinstitute/gvda_remove_beagle_walkers_971
Removed walkers for handling Beagle data
2015-07-22 15:47:19 -04:00
Joseph White 3bd988825f Removed walkers for handling Beagle data
Added deprecation statements to DeprecatedToolChecks.java
    Removed integration test for Beagle walker
    Added URL for Beagle documentation
2015-07-21 18:36:08 -04:00
Geraldine Van der Auwera ca082bfb76 Updated license text and fixed a couple of typos in doc block 2015-07-21 17:55:48 -04:00
Valentin Ruano Rubio 9360e1d293 Merge pull request #1059 from broadinstitute/vrr_true_false_list_removal
More efficient implementation of the indel read qualities recalculati…
2015-07-21 17:13:45 -04:00
vruano 82f1236633 More efficient implementation of the indel read qualities recalculation for the PCR error model.
Addresses #1054.
2015-07-21 14:25:11 -04:00
Geraldine Van der Auwera a4dde8f500 Merge pull request #1040 from broadinstitute/rhl_fasta_ref_maker
Merge contiguous intervals properly, closes #1035
2015-07-21 14:19:09 -04:00
Geraldine Van der Auwera da0c8c73fb Merge pull request #1055 from broadinstitute/ldg_TRAdocs
Updated TandemRepeatAnnotator docs
2015-07-21 14:16:20 -04:00
Laura Gauthier 8c18ead5e4 Clarify VCF version for supporting population alleles files
Clarify DeNovoPrior definition on PbyT
2015-07-20 13:42:57 -04:00
Laura Gauthier 7b29c55eb6 Updated TandemRepeatAnnotator docs 2015-07-17 17:26:56 -04:00
vruano 7f74303f2b Removes a very inefficient way to iterate in ReferenceConfidenceModel.isReadInformativeAboutIndelsOfSize(...)
Addresses performance issue #1048.
2015-07-16 12:04:12 -04:00
Ron Levine 6e46b3696e Merge contiguous intervals properly 2015-07-14 15:23:37 -04:00
Geraldine Van der Auwera c109a953f8 Merge pull request #1029 from broadinstitute/rhl_vqslod_definition
Make VQSLOD definition accurate
2015-07-06 19:52:15 -04:00
Ron Levine 1a7e83fa50 Merge if both GT are phased 2015-06-30 13:03:16 -04:00
Eric Banks f994220617 Update the allele remapping code to handle the new spanning deletion allele.
Now that Ron updated the GATK so that we use star to represent spanning
deletions, we need to catch those cases in the code that remaps alleles.
Otherwise, we try to pad the stars and that's just bad.

Added test from actual failing data.
2015-06-29 17:58:22 -04:00
Louis Bergelson e1c41b2c38 Updated gatk so it compiles on java 8
updated cofoja to 1.2 from 1.0
added explicit type casts in places that java 8 required them
2015-06-26 15:59:46 -04:00
Ron Levine 09686f4595 Make VQSLOD definition accurate 2015-06-25 16:47:50 -04:00
Geraldine Van der Auwera 719bb15340 Merge pull request #1019 from broadinstitute/rhl_var_index_param_gz
Indexing parameters not required if output file has the g.vcf.gz exte…
2015-06-17 14:30:20 -04:00
Geraldine Van der Auwera 697c4b0cf1 Added else clause to handle symbolic alleles
Add test for createAlleleMapping
2015-06-17 10:52:56 -04:00
Eric Banks 29ebfc32c3 Merge pull request #1020 from broadinstitute/eb_handle_multiple_spanning_dels
Handle cases where a given sample has multiple spanning deletions.
2015-06-16 14:20:46 -04:00
Eric Banks fe0b5e0fbe Handle cases where a given sample has multiple spanning deletions.
When a sample has multiple spanning deletions and we are asked to assign
likelihoods to the spanning deletion allele, we currently choose the first
deletion.  Valentin pointed out that this isn't desired behavior.  I
promised Valentin that I would address this issue, so here it is.

I do not believe that the correct thing to do is to sum the likelihoods
over all spanning deletions (I came up with problematic cases where this
breaks down).

So instead I'm using a simple heuristic approach: using the hom alt PLs, find
the most likely spanning deletion for this position and use its likelihoods.

In the 10K-sample VCF from Monkol there were only 2 cases that this problem
popped up.  In both cases the heuristic approach works well.
2015-06-16 12:20:43 -04:00
Laura Gauthier ce5ecf1383 Enable contamination correction via downsampling (as for HaplotypeCaller), added test
Add oxoG read count annotation and add as default annotation
Add ##SAMPLE VCF header line in accordance with TCGA VCF spec, specifying "File" line in sample header with BAM file name and "SampleName" with BAM sample name (Don't print sample file path if --no_cmdline_in_header is specified to help with test consistency)
Turn on active region assembly-based physical phasing for M2
Clean up M2-related annotations so UG doesn't crash if M2 annotations are called
2015-06-15 07:59:15 -04:00
Ron Levine b35085ca28 Indexing parameters not required if output file has the g.vcf.gz extensionv 2015-06-13 11:46:56 -04:00
Ron Levine dbed660183 Add spannning deletions allele 2015-06-12 16:43:06 -04:00
Geraldine Van der Auwera 526f7c0d07 Merge pull request #985 from broadinstitute/sa_refactor_cleansing_hack_negative_zeros_973_depends_on_841
removed in-line conditional (hack) that changed the result from 0.0 to -0.0; see issue #841
2015-05-23 00:02:52 -04:00
Sheila Chandran dac0b8ddfc Added QD calculation 2015-05-22 11:59:10 -04:00
Ron Levine a6ca97ef14 Site-level selection based on genotype filter status 2015-05-21 11:27:20 -04:00
melonistic 8d25b2ba40 removed in-line conditional (hack) that changed the result from 0.0 to -0.0; see issue #841
removed irrelevant -0 comments as specified in issue #841 but committed in #973
2015-05-16 23:12:09 -04:00
Geraldine Van der Auwera d1a7edd796 Update pom versions to mark the start of GATK 3.5 development 2015-05-15 00:44:54 -04:00
Geraldine Van der Auwera f19618653a Update pom versions for the 3.4 release 2015-05-15 00:40:39 -04:00
David Roazen caafe84e74 Rev htsjdk to version 1.132 and picard to version 1.131, and switch to using the versions in maven central
-We now pull htsjdk and picard from maven central.

-Updated the GATK codebase as necessary to adapt to changes in the Feature
 interface.

-Since VCFHeader now requires that all header lines have unique keys, uniquified
 the keys of GVCFBlock header lines by including the min/max GQ in the key.
 Updated MD5s accordingly.

-Other MD5s changed as a result of an htsjdk fix to eliminate "-0" in VCF output.
2015-05-14 15:26:23 -04:00
Geraldine Van der Auwera f6b3d8e862 Merge pull request #947 from broadinstitute/rhl_invert_selection
Added --invert_selection flag for variant selection queries
2015-05-13 13:40:32 -04:00
Eric Banks c752b9bca6 Fixed a small feature/bug that I introduced with the spanning deletions genotyping.
In the case where there's a low quality SNP under a spanning deletion in the gvcfs:
if the SNP is not genotyped by GenotypeGVCFs (because it's just noise) we were still
emitting a record with just the symbolic DEL allele (because that allele is high quality).

We no longer do that.
2015-05-13 11:19:40 -04:00
Ron Levine 4a75d54e65 Added invert and exclude flags for variant selection queries 2015-05-12 15:08:28 -04:00