67c07d1a6a
Fixed recently introduced multiplexer issue where DoC couldn't be written
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directly to command-line.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4839 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-14 19:35:15 +00:00
526ae92093
Getting back to '-L unmapped':
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- basic unit tests for interval sorting and merging with mix of mapped/unmapped.
- validation to ensure that locus walkers (really all non-read walkers) blow up with a user error when -L unmapped is specified.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4837 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-14 18:24:18 +00:00
afd4655674
Use @Output instead of @Argument. As a side note, Chris I'm ready for this nightmare to go away...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4835 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-14 17:13:15 +00:00
cf7d932a17
Fix for f***ed up BWA alignments that adhere to SAM specs
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4834 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-14 17:12:25 +00:00
d550fdfd60
Disabling integration test to see if this restores the full test suite.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4833 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-14 15:27:02 +00:00
a5008faca8
Bug fix: when getting variant contexts at a site, we need to get only variants that start at current location, otherwise we get duplicated records when filtering indels.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4830 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-13 19:23:10 +00:00
17db2e0e24
(forgot I hadn't committed this) - refactored IndelStatistics module and added a new inner class to compute Indel classification along with other statistics. So, we now get an extra table specifying, per sample, counts of whether indels are:
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- Repeat Expansions
- Novel sequence
And for indels of size <=2 we get a per-mononuc. or dinuc. breakdown of novels and expansions.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4828 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-13 17:43:43 +00:00
cf75caf653
java changes:
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VariantEvalWalker's logger is made public, so that variant eval modules can access it through the parent object.
DesignFileGenerator comment lists how best to bind things to it, and the feature accessor is better refined to grab the genome loc. (old change)
scala changes:
convenience addAll( List[CommandLineFunction] ) added to QScript class (and thus removed from the fCPV2)
useful command line functions added to a new library package for command line functions (these are fast simple VCF command lines)
bug fixed in ProjectManagement for the class where there's only one batch to be batch-merged (not really part of the use-case, but an edge-condition that came up during pipeline testing)
first draft of a private mutations pipeline which will be elaborated in future
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4823 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-12 05:10:45 +00:00
abd6ce1c77
A TiTv-free approach for cutting variants! Apparently much better than previous approach, and will work for indels and SV will truly minor modifications to the code. Will discuss with methods group on Monday.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4822 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-11 23:08:13 +00:00
974aaa134d
Trival fix to broken build
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4820 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-11 13:56:03 +00:00
895cb39f41
Thanks to Platform Computing tech support, found the magical environment variable BSUB_QUIET.
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Minor refactoring to add more of the CLibrary including setenv().
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4819 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-10 21:27:12 +00:00
5b46a900b3
Final version of BAQ calculation. default gap open is 1e-4, a good sensitive value. Useful timer class SimpleTimer added. BAQ is now live.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4818 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-10 19:35:12 +00:00
491a599b59
Minor optimization
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4817 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-10 18:56:35 +00:00
56433ebf6b
Switched from LSF command line wrappers to JNA wrappers around the C API. Side effects:
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- bsub command line is no longer fully printed out.
- extraBsubArgs hack is now a callback function updateJobRun.
Updated FullCallingPipelineTest to reflect latest changes to fullCallingPipeline.q.
Added a pipeline that tests the UGv2 runtimes at different bam counts and memory limits.
Updated VE packages that live in oneoffs to compile to oneoffs.
Added a hack to replace the deprecated symbol environ in Mac OS X 10.5+ which is needed by LSF7 on Mac.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4816 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-10 04:36:06 +00:00
d4d3170436
Support for '-L unmapped' in read walkers. DO NOT USE THIS PATCH YET. It has been
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subjected to and passes cursory testing on one dataset (and all integration tests pass).
However, there's a small library of validation checks, and unit and integration tests
that must be added.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4813 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-09 19:51:48 +00:00
a2d6cef181
Weird corner condition fix in indel genotyper: if there are 2 consecutive locations on candidate sites to genotype, we can get both when calling getVariantContexts and if we are triggering on an extended event - this leads to confusion and we can end up picking the wrong one. So, we require start of the vc to be the same as the start of the ref locus to be sure.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4812 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-09 19:34:23 +00:00
722819688a
Minor utility improvements to ValidateBAQ
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4809 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-09 02:19:32 +00:00
a63bbb2fec
Optimized BAQ implementation. No longer does excessive amounts of copying of arrays. At this point I'm not 100% certain where additional performance improvements would come from
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4808 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-08 21:26:30 +00:00
db55b2b0c6
Better testing of BAQ. Now really handles soft clipped reads properly by doing an expensive copy operation :-( will need to be transformed to a ByteBuffer in the near future.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4807 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-08 17:37:00 +00:00
f1f01610f8
Remove the extra trailing tab at the end of the VCF ## header line. Unfortunately, this meant updating every freaking integration test.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4806 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-08 17:22:29 +00:00
16e1bbd380
Hidden command line option to control BAQ gap open penalty for testing by me and eric. ValidateBAQWalker has misc. useful improvements. PrintReads now adds BAQ tags on output, if requested.
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BAQ has generally useful improvements. Refactor code to make it easier for BAQUnitTest to run. minBaseQuality enforced on output, as well as input now. Added BAQUnitTest that checks that the BAQ calculation is performing as expected. Still needs to be expanded significantly.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4804 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-08 01:01:39 +00:00
1b6bec8e6b
Trivial changes
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4803 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-07 20:06:54 +00:00
ca7810f11d
First major update of indel genotyper:
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a) Really fix this time strand bias computation for indels, previous version was a partial fix only.
b) Change way in which we deal with bad bases at the edge of reads. Even if a base is soft clipped in CIGAR string, there may still be dangling bases with Q=2 that may throw off QUAL computation in some sites. So, we're stricter and we also trim off those bases off read edges even if they are not soft-clipped officially.
c) First feeble-minded attempt at runtime optimization - don't compute log and 10^base_qual every time. Rather, cache 10^-k/10 and log(1-10^-k/10) for all k <=60. This speeds up code about 4x.
d) Further optimization: don't compute log(10^x+10^y) but rather use softMax function recently put into ExactAFCalculationModel.
e) Skip bad reads where all Q=2 (sic)
f) Avoid log to lin and back to log conversions of genotype likelihoods - this was legacy code from back when exact model did stuff in linear domain. This improves precision overall.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4802 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-07 18:35:22 +00:00
e2d45ec2af
Make Indel Realigner exceptions related to not enough space on disk or a too low file-handle limit UserExceptions.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4801 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-07 16:37:31 +00:00
70980b659a
CombineVariants no longer requires rod_priority_string
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4800 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-07 15:39:43 +00:00
bc885b7bd0
Don't print debugging output.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4799 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-06 20:57:11 +00:00
c91712bd59
BAQ calculation refactoring in the GATK. Single -baq argument can be NONE, CALCULATE_AS_NECESSARY, and RECALCULATE. Walkers can control bia the @BAQMode annotation how the BAQ calculation is applied. Can either be as a tag, by overwriting the qualities scores, or by only returning the baq-capped qualities scores. Additionally, walkers can be set up to have the BAQ applied to the incoming reads (ON_INPUT, the default), to output reads (ON_OUTPUT), or HANDLED_BY_WALKER, which means that calling into the BAQ system is the responsibility of the individual walker.
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SAMFileWriterStub now supports BAQ writing as an internal feature. Several walkers have the @BAQMode applied to this, with parameters that I think are reasonable. Please look if you own these walkers, though
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4798 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-06 20:55:52 +00:00
5d2c2bd280
Just refactoring into utils/baq directory
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4795 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-06 17:43:43 +00:00
80f32712dc
Tiny bug fix
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4793 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-05 18:48:33 +00:00
44feb4a362
Improved BAQ implementation. Now supports adding BAQ tags to reads on the fly with ADD_TAG_ONLY option. Caching fasta reader implementation, and changes throughout the system to enable this. Many performance improvements throughout the system due to better reference access patterns.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4792 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-05 18:29:39 +00:00
8901e63879
Cheap optimization: don't keep calculating the log of a constant. (How did I not catch this before?)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4791 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-05 04:36:21 +00:00
bef48e7a42
For Chris, to make his life easier: iterate over all VCF records passed in looking for one with an ALT allele defined instead of assuming all records have one.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4789 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-05 02:23:38 +00:00
97c94176c0
Immediate, obvious bug fix to avoid blowing up on unmapped reads
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4788 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-04 20:43:39 +00:00
a5b3aac864
Engine-level BAQ calculation now available in the GATK [totally experimental right now]. -baq argument to disable (NONE), to only use the tags in the BAM (USE_TAG_ONLY), use the tag when present but calculate on the fly as necessary (CALCULATE_AS_NECESSARY), and to always recalculate (RECALCULATE_ALWAYS). BAQ.java contains the complete implementation, for those interested. ValidateBAQWalker is a useful QC tool for verifying the BAQ is correct. BAQSamIterator applies BAQ to reads, as needed, in the engine. Let me know if you encounter any problems. Before prime-time, needs a caching implementation of IndexedFastaReader to avoid loading *lots* of reference data all of the time
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4787 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-04 20:23:06 +00:00
b12cec4302
Added emitOnlyMNPs flag
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4785 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-03 20:34:17 +00:00
6d4ec7f9e7
Remove RefSeq INFO from MNPs since annotating them properly
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4784 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-03 19:03:35 +00:00
4719bbc772
Changed dontRequireSomeSampleHasDoubleAltAllele parameter to mean that merging should only start at a polymorphic site
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4783 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-03 17:52:56 +00:00
ec174dc0ba
As per Menachem's last commit, there's a minimally more efficient way of doing the MQ cap.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4782 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-03 16:37:08 +00:00
92cf7744a6
Set minMQ = max(minMQ, minBQ) for phasing since anyway we cap BQ by MQ; also, lowered MIN_BASE_QUALITY_SCORE for phasing to 17 (was previously 20)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4781 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-03 16:31:13 +00:00
237ab1d489
1. As discussed in group meeting today, because we cap BQ by MQ, if MQ < minBQ then we filter the read.
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2. Update to UGCalcLikelihoods for Chris: require a vcf bound to 'allele' to be provided so that we know exactly which alternate allele we should be calculating GLs for at each site. The user is warned when the VC is not biallelic or there are multiple records at a site.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4780 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-03 05:57:06 +00:00
da6a07ad3b
First round of critical fixes to indel genotyper (more to come tomorrow):
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a) Avoid complete crash of caller that broke due to a recent refactoring by someone who must not be named <cough>EB<cough>... an integration test to avoid this in the future coming soon.
b) Fixed up strand bias computation for indels
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4779 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-03 02:48:09 +00:00
e09d6ee56b
write non-MNP VariantContexts records only once (where they start)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4777 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-02 22:14:26 +00:00
1515bf6de9
Merged common VCF writing logic into phasing/WriteVCF.java
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4776 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-02 22:03:02 +00:00
4e62de4213
Added method getOriginalReadGroupId(): takes merged (in case of collision) read group id as reported by a read coming from the merged stream and returns this read's read group id as it was listed in the original input bam file.
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IndelRealigner now uses this functionality to correctly un-mangle read group id's in --nWayOut mode (i.e. when we need to write reads into separate output bams with headers matching the original inputs).
Some hidden changes to IndelRealigner: purely testing and development, transparent to the users (hidden option added)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4775 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-02 21:41:52 +00:00
e5282742f9
Bug fix in CountCovariates, skip over indel records as well as SNPs in the dbsnp file. CountCovariates is now called CountCovariatesWalker. I've always hated that the name was swapped.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4774 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-02 18:43:24 +00:00
0adf505b53
We no longer look at by-hapmap validation status in the VQSR because using the HapMap VCF file is higher quality. As a side effect we now support the dbsnp 132 vcf file. ApplyVariantCuts now requires that the input VCF rod bindings begin with input, matching the other VQSR walkers. Wiki updated with information about how to obtain the hapmap and 1kg truth sets.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4772 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-02 15:38:45 +00:00
99b942b0b4
Removing duplicated header args
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4770 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-01 20:16:53 +00:00
9ac0f98d0d
Fixed bug in retaining proper RefSeq records
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4768 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-01 18:39:02 +00:00
7caf666f48
For Sendu: add a hidden option to allow bams to come out unsorted. We've agreed to let him deal with sorting these puppies on his own.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4767 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-01 17:56:13 +00:00
3afa841a6a
Fixing docs
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4766 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-01 17:36:47 +00:00
6a6cdc1925
Adding minor usage docs
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4765 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-01 17:34:33 +00:00
0d1c905df3
Adding UGCalcLikelihoods and UGCallVariants so that GSA members can break up the calling process into separate steps (calculate the GLs and then call off of those) - useful for Chris's new batch merger. As the docs say, these are absolutely not supported or recommended for public use.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4764 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-01 17:32:26 +00:00
b4ef716aaf
As per Eric and Mark's suggestions, separated the segregating MNP merger (MergeMNPs) from the more general merger employed for annotation purposes (MergeSegregatingAlternateAlleles). Both use the same core MergePhasedSegregatingAlternateAllelesVCFWriter
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4763 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-01 16:42:08 +00:00
0892daddb0
Improvement for the TGEN folks: when running in the solid recal mode of SET_Q_ZERO_BASE_N, update the NM tag if one was present in the read to reflect the new N's in the read.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4761 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-01 04:36:44 +00:00
a22b1b04e6
SW-turbo. Kind of. This implementation is presumably equivalent to the old one (mathematically), but runs ~10 times faster: inner loops eliminated completely. The author of the original implementation should be sentenced to the galleys. Oh, that would be me...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4760 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-01 00:08:47 +00:00
2ac938fe4e
1)
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Minor fixes to avoid crashes vs CG indel files:
- Add count for complex events, not just insertions and deletions
- Handle correctly cases of large indels falling out of bounds of histogram array: added a count of indels ouf of bounds and avoid exceptions.
2) Cosmetic fix for R script assessing UG calling performance: draw red y=x line on top of Simulated vs Estimated AC to get a better view of under/over-estimation of AC.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4758 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 21:08:25 +00:00
af84462f3e
The dev team has decided to change the filter that is added to records that are set to monomorphic by Beagle. It no longer lists the reference allele. Added those filters to the header of the output VCF file. Finally, we no longer use R2=NaN values coming from Beagle.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4757 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 17:19:54 +00:00
21256909bb
Not supported. I'm checking this in for Ryan only.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4756 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 16:59:18 +00:00
e21a66d876
Updated the Queue GATK generator and packaging to include more dependencies for fullCallingPipeline.q.
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Set the -bigMemQueue in the FullCallingPipelineTest to GSA to avoid waiting for the week queue when it is busy.
Fixed the package definition of PipelineTest so that scalac won't recompile it every time.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4755 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 15:29:40 +00:00
7f2ded0706
belated special case fix for Menachem; if the results of a BTI and BTIMR produce an empty interval list, exception out. This would be solved long term with better handling or empty and / or null interval lists. I'll add a JIRA
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4754 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 05:49:20 +00:00
a181680814
We no longer require dbSNP files to be of the dbsnp rod-type; VCFs will do (provided they are bound to the name 'dbsnp')
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4753 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 03:25:18 +00:00
8ffea42b75
about 10% improvement in SW alignment (and hence IndelRealigner!) speed by using c-style linearized array representation for matrices instead of java 2D arrays...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4751 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 00:06:50 +00:00
b03ac61e9d
consolidating the checking of the RMD sequence dictionary against the reference into a single function, and adding an integration test to test that empty VCFs pass (both the indexing and the seq dictionary validation).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4750 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 00:01:56 +00:00
abc13d0a90
Temporary hack: force abort with an intelligent message suggesting that users
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specify -B:dbsnp,vcf <filename> if the filename passed if the --DBSNP argument
value contains 'vcf'. We'll replace this functionality once dbSNP 132 starts
playing nicely with the tagging system.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4749 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-29 23:37:30 +00:00
d89e17ec8c
Fare thee well, UGv1. Here come the days UGv2.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4747 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-29 21:51:19 +00:00
727dac7b7a
Added MNP annotation of the number of AA changes occuring in the SAME RefSeq entry (numAAchanges), and if this number is > 1 for any of the alt alleles (alleleHasMultAAchanges)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4746 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-29 21:24:30 +00:00
222cd42ceb
Have the UG engine take care of the GL to PL conversion. Note that we still use GLs for calling (since we are losing precision in high-pass and, even worse, it can affect QD), but we emit PLs in all cases. This means that calculating the GLs, emitting them to VCF, and then calling off of them (a la samtools) is absolutely, positively not ideal.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4745 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-29 20:28:16 +00:00
102c8b1f59
Large refactoring of the UGv2 engine so that it is now truly separated into 2 distict phases: GL calculation and AF calculation, where each can be done independently. This is not yet enabled in UGv2 itself though because I need to work out one last issue or two. Tested on 1Mb of 1000G Aug allPops low-pass and results are identical as before. Also, making BQ capping by MQ mandatory.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4744 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-28 21:36:33 +00:00
ce051e4e9a
Write to sdout when no -o is provided
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4743 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-28 06:19:26 +00:00
e3e6d176df
Looking over the daily error log email made me realize that there were 2 implementations of vc.modifyLocation() - the correct one in VC that didn't require lazy loading the genotype data and the bad one in VCUtils that did. Removing the implementation in VCUtils and updating the code accordingly. Also, removing createPotentiallyInvalidGenomeLoc() since no one uses it anymore.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4736 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-26 18:40:34 +00:00
35b90d2295
Don't compute SB for ref calls
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4735 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-26 03:54:26 +00:00
6934f83cc7
Two changes to CombineVariants.
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1. Fix: VCs were padded before the merge, but they were never unpadded afterwards. This leaves us with a VC that doesn't meet our spec.
2. Update: instead of running the merged VC through every standard annotation (which seems really wrong, since this isn't the annotator tool), just update the chromosome count annotations (AC,AF,AN) through VCUtils.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4734 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-25 04:52:12 +00:00
d775192631
Check if MNP annotation of amino acid is dependent on the MNP, or could it be obtained through some single-base variant?
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4733 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 22:38:33 +00:00
0dd40c3684
Updating doc text
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4732 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 21:34:14 +00:00
ed08899abc
Overwhelming evidence that maxQ = 50 is now a better default than maxQ = 40 in the base quality score recalibrator, especially when combined with dbsnp build 132. Also, added option in ProduceBeagleInputWalker for Beagle-ing chromosome X calls with male samples which sets the genotype likelihood for the AB allele to zero for those samples.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4731 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 21:32:26 +00:00
ca70ed611c
Totally revamped the MNP annotation and put it in its own walker: AnnotateMNPsWalker
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4730 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 18:05:10 +00:00
8768e1a240
Useful profiling tool that reads in a single rod and evalutes the time it takes to read the file by byte, by line, into pieces, just the sites of the vcf, and finally the full vcf. Emits a useful table for plotting with the associated R script that can be run like Rscript R/analyzeRodProfile.R table.txt table.pdf titleString
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4728 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 14:59:16 +00:00
7a8b85dd15
Catch the JEXL exception when trying to match a variable that's not in the context - and don't filter in these cases. Now everyone can happily go back to using the stupid (and hopefully temporary) AlleleBalance filter.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4727 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 05:00:41 +00:00
caf2c21f61
Must close the writer to flush the cache
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4726 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 04:33:08 +00:00
816c33c821
indel-related fixes to the strict validator
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4725 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 04:08:34 +00:00
9cdc341be5
Trivial update for data processing paper: change syntax of output argument for Beagle by depth walker to update to new GATK format.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4724 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 01:45:44 +00:00
ea6e2218c1
1. dbsnp has some massive indels which my left-aligner was barfing on because there isn't enough reference context; fixed. 2. Lower default calling threshold to Q30 for UGv2.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4722 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-23 19:28:33 +00:00
53672361cc
capture more details when something IO-related goes wrong in writing a Tribble index
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4720 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-23 17:06:28 +00:00
082073ca3c
Stop RBP.getPileupBySample() from throwing a NullPointerException if the
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sample doesn't exist -- now returns null.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4719 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-23 05:17:06 +00:00
787e5d85e9
Added the ability to test pipelines in dry or live mode via 'ant pipelinetest' and 'ant pipelinetest -Dpipeline.run=run'.
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Added an initial test for genotyping chr20 on ten 1000G bams.
Since tribble needs logging support too, for now setting the logging level and appending the console logger to the root logger, not just to "org.broadinstitute.sting".
Updated IntervalUtilsUnitTest to output to a temp directory and not the SVN controlled testdata directory.
Added refseq tables and dbsnps to validation data in BaseTest.
Now waiting up to two minutes for gather parts to propagate over NFS before attempting to merge the files.
Setting scatter/gather directories relative to the -run directory instead of the current directory that queue is running.
Fixed a bug where escaping test expressions didn't handle delimiters at the beginning or end of the String.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4717 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-22 22:59:42 +00:00
8ca5edf89f
Fix issue where non-required file inputs can throw a NullPointerException
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rather than a UserException when an the input argument is specified without
an argument value.
The magnitude of code required to fix this points to a need to give the
command-line argument system a good spring cleaning.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4714 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-22 01:49:17 +00:00
b9a59ea54f
Adding Het/Hom ratio to the temp per sample metrics. Because I'm in a generous mood tonight, I'm going ahead and fixing the paths for the classes I'm touching...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4713 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-21 04:24:42 +00:00
cff7c6ddce
These are user exceptions
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4712 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-21 02:08:11 +00:00
374c0deba2
Updating the core LocusWalker tools to include the Sample infrastructure that I added last month. This commit touches a lot of files, but only significantly changes a few: LocusIteratorByState and ReadBackedPileup and associated classes.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4711 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-19 19:59:05 +00:00
c723db1f4b
Added a -summary jexl argument to VariantEval similar to -validate.
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Updated the package of ValidationGenotyper to match the file location.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4710 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-19 04:42:46 +00:00
79725f2d9c
Excluding the QFunction log files from the set of files to delete on completion.
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When a QGraph is empty displaying a warning instead of crashing with an JGraph internal assertion error.
Cleaned up code using the Log4J root logger and explicitly talking to a logger for Sting.
When integration tests are run detecting that the logger has already been setup so that messages aren't logged twice.
Updated from Ivy 2.2.0-rc1 to 2.2.0.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4707 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-18 20:22:01 +00:00
721e8cb679
VariantsToTable now supports wildcard captures. -F PREFIX* now captures all fields that begin with PREFIX, output as a comma-separated list of unique values. Added integration test for VariantsToTable since I find it so useful.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4706 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-18 18:54:59 +00:00
8cba86a69d
Trivial code organization for the haplotype score
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4703 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-18 12:32:55 +00:00
9f356b6cd0
Package all walkers in org/broadinstitute/sting/gatk/walkers directory in release.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4702 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-18 02:33:45 +00:00
90711d445c
Change the interface for RMDTrackBuilder, therefore always mandating the specification
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of a sequence dictionary and related info. This will hopefully eliminate the cases in
which the refseq track depends a sequence dictionary / contig parser that hasn't been
specified.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4700 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-17 19:00:17 +00:00
367cc9135f
Use VariantContext and Genotype accessor methods for attributes that will return null for unparseable data
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4699 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-17 18:19:56 +00:00
2f3578182a
Added VERY preliminary version for merging refseq annotations as SNPs are merged
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4698 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-17 16:49:12 +00:00
e2f7f33ce7
Added getIntegerAttribute()
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4697 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-17 16:33:07 +00:00
d86ab2becb
JEXL expressions now generate exceptions, not warnings. Tools should catch the runtime exception to handle correctly. Removed unncessary complexity from the JEXL contexts
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4695 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-17 16:08:16 +00:00
539651de30
Initial version of Indel Statistics module for Variant Eval - not for general use yet, needs more verification and more work. Older IndelHistogram module will be obsolete with this new walker. Right now, for each sample (and for all samples), the following are computed:
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- Number of insertions
- Number of deletions
- Length distribution for indels.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4694 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-17 15:52:01 +00:00
01b721ab61
Passing ReviewedStingExceptions through the HMS.
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Added a @Hidden experimental argument -validate to VariantEval that allows external JEXL assertions that must evaluate to true will throw an exception.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4692 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-16 21:50:42 +00:00
24ec35deaf
- Reintroduce test dependency so that the tests passing / failing is not
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dependent on the contents of the integrationtest directory. Will figure
out how to better manage the integrationtest directory at some point in
the future.
- Up the max heap size for tests.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4691 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-16 19:55:20 +00:00
62f02bf30a
Minor JAVA visibility updates
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4690 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-16 15:28:58 +00:00
f1b0f3bc49
Putting my changes from earlier in the day back in after someone (rhymes with 'Dark') trounced on them with his last commit...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4687 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-16 01:55:50 +00:00
8ff4e4cb25
Cleanup testng listener configuration.
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- Add StingTextReporter, which provides a text dump of the errors to the
console. Had to create our own reporter (inheriting from the standard
TestNG TextReporter) to work around a configuration issue with the
TextReporter. In an ideal world, I'd report this on the TestNG mailing
list and help them resolve the issue, but this solution is relatively
robust at the moment and life is too short.
- Added back the failed test listener, which generates the testng-failed.xml
file.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4686 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 23:43:14 +00:00
b677080858
Initial checkin of the ValidationGenotyper. Not intended to be used by anybody yet. Only here for archival purposes at this point.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4685 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 22:33:49 +00:00
ef2f6d90d2
VQSR now operates on LOD scores in the INFO field directly, and doesn't adjust the QUAL field. New format for tranches file uses LOD score. Old file format no longer supported. log10sumlog10() function, a very useful utility in MathUtils. No more ExtendedPileupElement! Robust math calculations in GMM so that no infinities are generated! HaplotypeScore refactored to enable use of filtered context. Not yet enabled... InferredContext getDouble and getInteger arguments now parse values from Strings if necessary
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4684 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 22:19:22 +00:00
5b83942cee
- Fix DepthOfCoverage so that, when it abuses the ROD system by instantiating a track in onTraversalDone, it also supplies the correct sequence dictionary and parser.
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- Changed RMDTrackBuilder to use SequenceDictionaryUtils.validateDictionaries for ref <-> ROD sequence dictionary validation.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4683 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 20:34:04 +00:00
2af508ef83
Better docs, as requested by Matt
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4681 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 18:24:15 +00:00
62be55376b
no longer useful
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4677 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 17:53:33 +00:00
35382468ee
Better error checking/output
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4676 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 16:36:34 +00:00
7a3a464959
Finally, the logic is right
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4674 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 14:02:09 +00:00
8d66637fc2
Bug fix for VariantsToTable with filtered records
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4673 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 13:49:16 +00:00
d76b87d6e3
Useful debug file output
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4672 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 13:36:52 +00:00
28142408ff
Refactoring so that all counting in UGv2 is done on the filtered context. In particular, tests for empty pileups and too many spanning deletions now use the correct counts. Also, -all_bases mode now trumps all; this one is for you, chartl.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4671 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 05:01:12 +00:00
c7229abbf7
Get rid of 'meaningless and random values' that prevent Sendu from merging PG lines. I have to admit that he did have a good point there.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4670 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-15 03:35:12 +00:00
2fd816ac5f
Updated ordering of integration tests. GVC > VR > AVC
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4669 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-14 06:33:28 +00:00
cb1e8ad43a
Temp bug fix for indel genotyper: if there are two or more variant contexts at a site, just choose the first one containing an indel and genotype that. There might be cases where IGv2 emits 2 indel variant contexts in at the same ref location which made us fail there. A better solution will be to form underlying haplotypes supported by reads and compute likelihoods of that.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4667 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-14 00:21:54 +00:00
82f9327b5e
Throw the right exception
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2010-11-13 22:18:42 +00:00
44d0cb6cde
New version of cutting routines for VQSR. Old code removed. Working unit tests. Best practice with testng integration test (everyone look at it). Walker test now allows you to not specify no. input files, if it can infer input counts from MD5s
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4664 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-13 16:19:56 +00:00
62a106ca5a
Disabled VariantGaussianMixtureModelUnitTest
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4663 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-13 03:53:33 +00:00
673fa841a4
Updated PluginManager so that during testing Queue can dynamically compile and load separately multiple class directories into the same class loader.
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Removed obsolete usages of PackageUtils with updated PluginManager.
Ported Queue interval utilities written in scala over to Sting's java IntervalUtils.
Added a very basic intergration test to ensure that the fullCallingPipeline.q compiles.
Added options to specify the temporary directories without having to use -Djava.io.tmpdir (useful during the above integration test).
While adding tempDir added options to specify the run directory from the command line, for example "-runDir v1".
Upgraded to scala 2.8.1 and updated calls to deprecated functions.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4661 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-12 20:14:28 +00:00
42acc968b1
Unit tests
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4660 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-12 20:09:39 +00:00
b51762c279
When you commit code late at night you tend to make careless mistakes... like forgetting to update integration tests.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4658 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-12 14:41:10 +00:00
988da428ae
Bug fix for old style tranches file. ApplyVariantCuts moved over, and passes integration tests
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4657 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-12 14:38:26 +00:00
c5f8c4dd0d
VariantEval test for tranches file, plus cutting over VE to use the generic Tranches framework
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4656 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-12 13:52:40 +00:00
69de3e51bf
Better precision for the calculated AF value. Now looks at the total number of samples to determine how much precision is necessary. Also, changing default min BQ used for calling in UGv2 to Q17.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4655 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-12 08:31:40 +00:00
ec83a4b765
Initial commit, without any tool changes, of a new infrastructure for determining tranches. This new version walker up from the lowest quality snps and determines Ti/Tv. This is marginally more stable than moving in the other direction when there are few novel variants (exomes). Can make a substantial difference in the size of the call set (10-20%). I'll hook it into the main system now. Includes an new class Tranche, isolated read/writing utilities that are now testing in TestVariantRecalibrator, which should be moved to UnitTest as soon as I can figure out how to do this on my mac.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4654 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-11 23:52:49 +00:00
ed6396ed43
No longer getting the inet, it seems to potentially hang the JVM
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4653 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-11 23:49:42 +00:00
2f6666a988
Correcting traversal statistics
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4652 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-11 22:46:58 +00:00
dbde721dd0
Bug fix for filtered records
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4651 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-11 18:54:51 +00:00
698e5cf345
for GATK style codecs, make sure we fill in their GenomeLocParser from the RMDIndexer
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4650 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-11 18:44:15 +00:00
2f3be24a00
Improvement in exact allele frequency calculation model (still under test, but this is definitely better than what I had before). Instead of approximating log(10^x+10^y) as max(x,y), approximate full Jacobian formula max(x,y)+log(1+10^-abs(x-y)) with static lookup table for the second term.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4647 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-11 01:22:35 +00:00
2e0296fef9
NWayOut logic slightly changed: 1) results.list file is gone; 2) now with -nWayOut one can specify either a) suffix to attach to every output file (i.e. cleaned reads from inputK.bam will be sent to inputK.suffix.bam) or b) *.map tab-separated file that must list <input_name> <output_name> mappings, one per line, for every input file.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4645 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-10 20:32:16 +00:00
a1adfb91ce
And now @Hidden tags are really in place :-/
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4644 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-10 20:28:40 +00:00
68ce55148e
(pseudo-)genotyping functionality added: force-emits calls (including REF) at specified locations. Currently @Hidden for testing.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4643 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-10 20:25:40 +00:00
8e36a07bea
Convert GenomeLocParser into an instance variable. This change is required
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for anything that needs to be simultaneously aware of multiple references, eg
Queue's interval sharding code, liftover support, distributed GATK etc.
GenomeLocParser instances must now be used to create/parse GenomeLocs.
GenomeLocParser instances are available in walkers by calling either
-getToolkit().getGenomeLocParser()
or
-refContext.getGenomeLocParser()
This is an intermediate change; GenomeLocParser will eventually be merged
with the reference, but we're not clear exactly how to do that yet. This
will become clearer when contig aliasing is implemented.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4642 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-10 17:59:50 +00:00
5ef4b234d8
Updates for broken integration tests. Counting annotations (AC, AF) now work correctly for AC = 0 sites
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4640 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-09 19:43:43 +00:00
4759fdd2ac
V1 of read and variant simulator and assessor. SimulateReadsForVariants generates BAM and VCF with given combinations of variant and read properties. AssessSimulatedPerformance produces a table suitable for analysis in R
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4637 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-08 21:01:33 +00:00
97db593efb
making my last commit message actually true
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4636 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-07 18:26:23 +00:00
be499fc986
making the reference optional (the GATK will set it on the first run if it's not included), and setting the seq index if they do supply it.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4635 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-07 18:15:31 +00:00
e05af54f3e
Found the cause of 80% of our non-called FNs: an excess of filtered bases were causing us to choose the wrong alternate allele. More details to dev team.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4634 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-07 03:39:57 +00:00
2a8c97a4a7
better error catching, as well as allowing for default index naming, <filename>.idx
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4633 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-06 19:12:19 +00:00
cb2e26a004
by request, an indexer tool to create Tribble style indexes outside of the GATK
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4632 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-06 18:59:06 +00:00
bbb890dd6c
Bug fix for variants in VCF header fetching to avoid null pointer when a VariantContext tribble codec doesn't have a header
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4630 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-05 12:43:25 +00:00
c9dbd8f80a
Bug fix for Tim: all point events must be treated equally
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4629 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-05 03:42:51 +00:00
913db5d1ab
Unfortunately when annotating sites with the UG the -G None option was wiping out the single annotations added by -A options
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4625 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-04 19:27:23 +00:00
816c86776e
Walker description was wrong and it was bothering me
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4624 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-04 02:17:09 +00:00
87f6738d4c
Deprecated
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4623 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-04 02:07:40 +00:00
42e9987e69
Bug fix to GenotypeConcordance. AC metrics get instantiated based on number of eval samples; if Comp has more samples, we can see AC indeces outside the bounds of the array.
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Bug fix to LiftoverVariants - no barfing at reference sites.
AlleleFrequencyComparison - local changes added to make sure parsing works properly
Added HammingDistance annotation. Mostly useless. But only mostly.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4622 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-03 19:23:03 +00:00
3d27defe93
Fixed output stats (percentage denominator)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4621 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-03 18:47:06 +00:00
4e109f58bf
In preparation for Ryan's jumping into SLOD: getting rid of bad hack to ensure P(AF=i) is calculated in the strand-specific cases. With Mark's recent changes this is no longer necessary and just makes the code slower.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4620 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-03 03:44:59 +00:00
22d64f77ff
Added hidden --outputMultipleBaseCountsFile option to detect cases where a single read has more than one base at the same position
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4619 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-03 03:22:48 +00:00
8f9bf82aa7
Bamboo is correctly interpreting test fails. Reverting forced-fail test
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code.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4617 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-02 19:32:34 +00:00
1df166b76e
Forcing a unit test fail to ensure that Bamboo is picking up on failed tests
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as well as successes.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4616 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-02 19:03:12 +00:00
a885ecf046
When merging MNPs, the phased flag and the phase quality (PQ) are determined simultaneously
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4613 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-02 14:44:26 +00:00
861ee3e37a
Changing testing framework from junit -> testng, for its enhanced configurability.
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Initial test to see how Bamboo will respond. More detailed email to follow.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4609 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-01 21:31:44 +00:00
fe3f78e1d3
make it full (absolute) path for the file names recorded in results.list
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4608 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-01 20:53:51 +00:00
2ac5e55130
typo
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4607 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-01 20:38:02 +00:00
0e6dd38936
In n-way-out mode, added printing names of all the output files into 'results.list' file
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4606 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-01 20:37:38 +00:00
64599d1074
Added debugging message
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4605 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-01 19:51:42 +00:00
639ecdc931
Noted in comment that using a single sample in MergePhasedSegregatingAlternateAllelesVCFWriter does NOT update any of the INFO fields, though this could be changed in the future...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4604 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-01 19:02:52 +00:00
8439f0aa61
Check for VCFConstants.MISSING_VALUE_v4 when retrieving INFO fields and consider such values as non-existent
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4603 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-01 17:51:35 +00:00
aadd230636
N-Way-Out is back. Now uses SAMReadID to identify each read's source bam, so should be reliable. Interface is sort of ugly fo now: to generate output file names, .bam is stripped from input file names, then the value of -nWayOut argument is pasted on (and all the output files are written into the current dir).
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Unrelated change: in the sorted-target mode (when we read sorted target intervals one by on from a file), one can now specify multiple semicolon-separated interval files (all must be sorted). Not hugely useful probably, but makes --targetIntervals always process its values in exactly the same way, so we are consistent (it has been already taking ;-separated args in unsorted mode)
NwayIntervalMergingIterator: reads in multiple sorted GenomeLoc input streams (iterators) and presents them as a single sorted and merged stream
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4602 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-01 16:06:51 +00:00
23cb399a88
Reasonable first pass at a correct SB calculation. Simple utilities to support it. VariantsToTable no longer prints filtered sites by default. New non-standard variant eval module to print comp sites not present in eval (FN finder)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4601 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-31 12:41:52 +00:00
30fae5cf18
Major redo of exact AF computation for UnifiedGenotyperV2. Fact of life is, there's no way we can compute an exact QUAL field and keep performing the AF computation in linear probability space. In good sites with lots of samples, the ratio of Pr(AC=K*|D) to Pr(AC=0|D) can be 10^1500 or some ridiculous large number like that, which no double can represent. So, we abandon probablity space and work now in log likelihood space, which has several major repercussions:
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a) Sites were numerically well behaved now, but another hard fact of life is that the AF iteration is defined in linear Pr space, not in log likelihood space, and the math doesn't work out in log space. So, we need to convert back and forth from lin to log space.
b) As a consequence of a), the code got a major slowdown, and calling the 629 samples was about 15 times slower than before (sic).
c) To solve b), log10 of integers are now cached at init, and numerical approximations are now made. Most importantly, I'm using the approximation that log(exp(a) + exp(b)) ~= max(a,b) which seems almost inconsequential in practical performance but reduces computation time to what it was before. More detailes analyses are forthcoming. This approximation can be refined further on to avoid expensive log-exp conversions if further profiling and analysis deems it necessary.
Also, two other issues were solved:
a) Strand bias computation was actually wrong in the case where the optimal AC was bigger than max(forward reads,reverse reads). Now the code is exactly as buggy as the grid search model (all bugs are equal, but some are more equal than others)
b) Genotype likelihoods are now computed in a better way and if a likelihood < 0 we don't just cap to 0 but do something a bit smarter.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4600 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-31 01:26:04 +00:00
d492621122
The TraversalEngine's habit of hanging onto old ROD states seems to have a bad
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interaction with Tribble. In Tribble, keeping these references in memory until
the shard is flushed means keeping one 512K character buffer per object in
memory. Fixed by purging the reference to the object at the end of the
shard traversal.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4599 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-29 17:09:58 +00:00
1c056ea791
Users can now use VariantAnnotator to add annotations from one VCF to another. For example, if you want to annotate your target VCF with the AC field value from the rod bound to CEU1kg, you can specify -E CEU1kg.AC and records will be annotated with CEU1kg.AC=N when a record exists in that rod at the given position.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4598 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-29 16:38:31 +00:00
1b3fc8ddd2
Doing things too quickly is also naughty. Thanks, Andrey. Now, we're even.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4597 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-29 14:50:04 +00:00
58f7b4c595
Naughty use of assertions means that malformed records are not caught.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4596 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-29 14:41:38 +00:00
9a60e72364
Trivial change to LeftAlignVariants: make walker return number of aligned variants on map(), and print out the # of aligned variants at the end of the traversal.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4595 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-29 02:03:36 +00:00
2f8057bf24
Cleanup for multithreading memory leak during integration tests...unregister MXBean at end
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of traversal to avoid holding a reference to the microscheduler, which holds a reference to
the engine, which in turn holds a reference to the walker, which itself holds a reference to
all the data aggregated during the course of the traversal.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4594 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-28 18:37:42 +00:00
860de05a7c
Bug fix for PL vs. GL in header. PL now truly default output for UGv2
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4592 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-28 12:39:18 +00:00
9782dde3dd
Bug fix for PL vs. GL in header. PL now truly default output for UGv2
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4591 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-28 12:38:48 +00:00
fe3cfb067c
very minor cleanup
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4590 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-28 02:11:33 +00:00
cbce3e3c83
General support for both GL (log10) and PL (phred-scaled) genotype likelihoods. All walkers now use the Tribble GenotypeLikelihoods object for parsing VCFs with genotype likelihood fields. Please use GenotypeLikelihoods object from now on for seamless support for GL and PL tags. UGv2 now uses PL by default.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4589 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-28 01:48:47 +00:00
15183ed778
Reduced header to single sample when useSingleSample arg is given (to prevent lots of pointless no-calls)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4588 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 23:02:10 +00:00
34538bf2b3
Added ability to focus only on a single sample and/or emit only merged records in MNP merger
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4587 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 20:41:05 +00:00
5cdd7a7ba4
There's no such thing as a sam index, so the GATK extension generator doesn't need to add an @Input for them.
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Updated a call to swapExt to specify the directory.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4586 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 20:39:03 +00:00
4c23b1fe9c
Get rid of the static cache of ArgumentTypeDescriptors by making them an integral part of the
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parsing engine. Hugely lowers our memory footprint in integrationtests, but not yet enough to
run Mark's new parallelized VariantEvalIntegrationTests.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4585 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 19:44:55 +00:00
e112df20df
Use a sorting VCF writer because records can flip positions during left-alignment
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4583 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 06:33:03 +00:00
708e973911
Adding a walker to left-align indels in a VCF file (was able to reuse code from AlignmentUtils to do the hard part). The code correctly updates the alleles if they change. This makes it much easier to compare our indel calls to e.g. CG or dbSNP.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4582 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 06:08:26 +00:00
ec442086ec
Minor refactoring of the cleaner allows me to add a trivial walker that left aligns the indels present in reads.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4581 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 03:39:10 +00:00
04e38929f0
Disabling parallelized version of VE integration tests. Still slow, but not
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deadlocking any more.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4580 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 02:47:03 +00:00
ffc0ed2b32
Renamed getName() to getSource() in VariantContext to be more accurate
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4579 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 02:21:41 +00:00
52fc023d80
Added convenience methods to check/get the ID of the VariantContext
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4578 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 01:56:58 +00:00
a7af1a164b
Updated MNP merging to merge VC records if any sample has a haplotype of ALT-ALT, since this could possibly change annotations. Note that, besides the "interesting" case of an ALT-ALT MNP in a pair of HET sites, this could even occur if two records are hom-var (irrespective of using phasing). Note also that this procedure may generate more than one ALT allele.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4577 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-27 01:50:36 +00:00
e02aac0743
No longer print out 0 reads were filtered out... message when there were no reads scene at all
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4575 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-26 20:22:16 +00:00
b085648141
Parallelized VariantEval. Refactored output to support parallel output style. Minor improvements to testing framework to enable easy executeTestParallel to run -nt 1 and -nt 4 by default.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4574 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-26 20:21:38 +00:00
8211cee0b2
Queue UI Improvements:
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- Forcing user to set the temp directory via -Djava.io.tmpdir to avoid filling up /tmp.
- By default deleting job outputs tagged as intermediate.
- Defaulting pipeline to scatter count 1 (no reads deleted).
- Cleaning up temp classes even when scripting fails.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4573 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-26 19:49:08 +00:00
cedceb33cd
My only experience with getting external groups (GAP,dbSNP) to use VCF has been painful at best, so I'm not holding my breath to get indels for CG in VCF. To that extent, here's a oneoffs walker to convert from CG format to VCF for all 'del' & 'ins' types (but not 'sub' types, since they're too complex to code up in VCF and I don't care about them for now). rs ids are included.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4572 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-26 17:53:14 +00:00
071799453c
More complete fix to previous commit
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4571 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-25 20:47:37 +00:00
67a776d53c
Yikes! VariantEval was always loading genotypes unnecessarily when no sample list was provided because the order of the checks in the if statement wasn't optimal. This results in a massive performance penalty when running with many-sample VCFs.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4570 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-25 20:30:23 +00:00
0d97394c4f
Add capability to liftover to do the right thing when sections of the genome are reverse complemented. This does not work for indels (we don't try to reverse complement) because we need to figure out what the hell to do about the fact that the 'base to the left' that we automatically add on will be wrong because the location of the indel actually changes when reverse complemented. Sheesh.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4569 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-25 20:03:03 +00:00
c357ec775a
Trivially phases any hom site (since it is always correct to continue the previous haplotypes by appending the same allele onto both haplotypes)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4568 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-25 16:58:41 +00:00
da64183854
Fix for the case of the truth VCF file having multiple SNPs at the same locus.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4567 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-25 15:04:50 +00:00
3039c0de3c
Retire old ROD syntax.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4564 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 23:52:11 +00:00
78e71c4167
Fisher exact makes a return. Seems to be working properly. Current tagged as a work in progress. Needs to take the filtered context to be truly correct.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4561 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 20:35:44 +00:00
f06f955e06
Added count of number of mergeable records (within specified distance cutoff)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4560 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 20:11:15 +00:00
84b6d2926b
Useful walker that creates a new interval list with only the interval overlapping input sites list. Really a one-off walker
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4559 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 19:55:04 +00:00
78b4a1c240
VariantsToTable now supports the virtual TRANSITION field
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4558 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 19:53:46 +00:00
e6d61197e6
Disable OTF indexing when writing indices for temporary VCFs when running
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with -nt option. When last I checked in, Ryan was seeing a ~25% speedup
per shard by not indexing.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4556 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 17:40:37 +00:00
e6b008f87c
Fixed >= vs. > test leading to failure to tolerate dynamic indexes that are created at *exactly* the instant the output VCF is closed too
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4555 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 16:11:14 +00:00
72c5b75460
Tribble exceptions can be generated outside of the normal codec parsing code because we now lazy load the VCF genotype fields. I'm not sure how else to account for this (to make sure they show up as user errors and not GATK system errors) besides catching them here.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4554 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 15:22:17 +00:00
e24f7fec47
Fixed indel genotyper which broke yet again because we can't just call context.getBasePileup() without checking again for its existence in the first place.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4553 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 15:17:11 +00:00
c0b4317311
Er, here's the right fix
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4552 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 15:08:25 +00:00
181f901126
Fix for Ryan: don't pull reference sequence for the portions of reads that extend beyond the contig boundaries
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4551 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 14:38:26 +00:00
9f76aed515
Fix for IDs 5zP7jJeffK2sdPH1BH4JBVSrQztVEDKP and nX0cuBjoqBW4NQFpM6dE13KpkCuYFpZu
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4550 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 14:05:27 +00:00
d4feb99d9a
For parallel ROD traversals, simplified reference sharding. Will replace
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with a more sensible strategy for sharding w/o BAMs at some point after
ASHG.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4549 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-22 05:08:15 +00:00
9ba7269728
Fixed Integration Tests to output VCF files with -NO_HEADER
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4548 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 19:49:44 +00:00
60f88866dd
Uses VCFConstants instead of hard-coded constants
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4547 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 19:49:01 +00:00
883b8ff80e
Removed flush() method from VCFWriter interface; added takeOwnershipOfInner parameter in constructor of wrapper VCFWriters to designate if the Writer should close the inner Writer it receives on construction
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4546 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 19:48:00 +00:00
1ea43be976
Removed flush() method from VCFWriter interface
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4545 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 19:46:42 +00:00
3566ad2146
Wrong if statement.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4544 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 17:37:45 +00:00
bf17f92b64
Do not look for samples in dbsnp binding
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4543 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 17:36:38 +00:00
225cf49128
Implementing reference confidence estimate in UGv2 as per UGv1
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4542 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 16:57:59 +00:00
cf9c9ae241
Three important updates for Dindel genotyper:
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a) Fix it up because it broke with a recent checkin to annotate vcf with unfiltered depth.
b) Printout of ref/alt alleles in output vcf was incorrect because the start/stop positions of associated GenomeLoc were incorrectly computed in case of a deletion.
c) Redid Beagle input/output walkers as not assume that ref was a single base, not to assume that variant was a vcf and generalized it to be indel-capable, so now the Beagle walkers can be used for indels as well.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4541 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 16:00:16 +00:00
b88cfd2939
Updated MD5s of VCFs, since the approximate command line arguments injected into the VCF headers now have a little more order to them thanks to changes in the ParsingEngine.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4538 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 03:07:40 +00:00
8f38ebf98e
Throw a user exception when using the clustered SNP filter in the presence of ref calls. It's unfortunate, but until we get a windowed ROD context this is just too much of a headache to support.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4537 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-21 02:44:10 +00:00
88a0d77433
Changed parsing engine to store the order the argument bindings based on their definition in the class, moving "-T" to the front of Queue command lines.
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Queue GATK generated .intervals is now a List(File) again removing special case handling in the generator.
Instead of using @Scatter annotation, using ScatterFunction instance to determine if a job can be scattered.
Implemented special VcfGatherFunction which only uses the header from the first file, even if the other files differ in their headers.
Added a -deleteIntermediates to Queue to delete the outputs from intermediate commands after a successful run.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4536 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 21:43:52 +00:00
91049269c2
Optimizations across the board, with help from Guillermo, Matt, and JProfiler. Too tired to give details now.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4535 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 20:47:41 +00:00
f76865abbc
ReadBackedPhasing now uses a SortedVCFWriter to simplify, and has the ability to merge phased SNPs into MNPs on the fly [turned off by default]; MergeSegregatingPolymorphismsWalker can also do this as a post-processing step; Integration tests for MergeSegregatingPolymorphismsWalker were also added
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4534 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 20:27:10 +00:00
e8079399ac
Added flush() method to VCFWriters
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4533 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 20:23:22 +00:00
00726b6c4b
Added mergeIntoMNPs to merge successive VCF records into a single MNP VCF [if possible]
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4532 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 19:40:26 +00:00
55230ce5f3
Added startsBefore, startsAfter, and minDistance [calculates distance between any pair of bases in the two GenomeLocs]
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4531 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 19:12:34 +00:00
4f77581087
More optimizations for HaplotypeScore: pulling final constants out of loops
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4530 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 17:40:57 +00:00
20fac43521
Add extra logging to the GATK run report at the start of metrics aggregation.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4529 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 17:32:51 +00:00
a205900eff
Naughty use of Strings in HaplotypeScore literally double the runtime of Unified Genotyper. Moved over to bytes and no longer allow Strings in the Haplotype util class. New round of profiling on tap for tomorrow.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4528 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 03:32:21 +00:00
f9541b78d3
Timing of traversal now starts at the start of the traversal, so the rate is reasonable right off the bat. For example, we now see: INFO 22:45:02,476 TraversalEngine - [TRAVERSAL STARTING]; INFO 22:45:32,484 TraversalEngine - [PROGRESS] Traversed to 2:50850686, processing 18,646 sites in 30.05 secs (1611.50 secs per 1M sites)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4527 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 02:47:34 +00:00
f7ce18553e
GenotypeConcordance now prints interesting sites more nicely. RMDTrackBuilder is now uses the root class FeatureSource not BasicFeatureSource.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4525 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-20 00:29:02 +00:00
7a291a8ff3
First pass at a VCF validator. Will test more tonight.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4524 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-19 19:55:49 +00:00
341e93ee12
The reference fixer seems to have munged the OMNI rather than making it better. Looks like some sites need to only have the ref and alt bases swapped, and others need to have the genotypes swapped as well? E.g.
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some subset need
A C 1/1 --> C A 0/0
while another subset need
A C 1/1 --> C A 1/1
it's unclear how big these subsets are (or even if one is empty). What I do know is, doing the first one totally screws up concordance metrics for the 421-sample chip. So either something else needs to be done, or there's a bug in this walker. Until I know for sure, I've added an initialize exception to disable this thing...
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4523 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-19 12:50:24 +00:00
5251f49a90
Including Marian Thieme's BaseCounts class (with some modifications)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4522 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-19 03:07:30 +00:00
c5f105d050
Fix boneheaded mistake in the new interval filtering code I added on Sunday.
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Sorry everyone.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4521 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-19 01:20:12 +00:00
524cb8257c
Renaming for accuracy
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4519 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-18 18:11:07 +00:00
0fe504b748
Use filtered depth for Exact model (just like grid search)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4518 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-18 18:08:31 +00:00
d54d9880d7
Now that G's new genotyping algorithm is live, I've cleaned up the code to completely separate the grid search from the exact model. AlleleFrequencyCalculationModel is now completely abstract.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4517 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-18 18:04:06 +00:00
80e5ac65b4
CAP_BASE_QUALITY needs to be included in the clone() method for it to be usable in UG
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4516 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-18 03:11:03 +00:00
6af9532090
Fix for GATK slowdowns at the ends of intervals.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4514 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-17 23:21:23 +00:00
5889138f4a
*facepalm*
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forgot to add the samples to the header. How could the VCFWriter let me get away with something so boneheaded?!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4513 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-17 05:36:29 +00:00
2bc5971ca1
Added - a tool to fix reference bases of a VCF. The OMNI had a couple of sites with incorrect reference bases (look to be legacy from other chips), and a few more that had ref and alt flipped. GAP should probably take care of it, but since I need results by monday, I'm doing it.
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Modified - SelectVariants: Hook up to VariantContextUtils to recalculate AC/AF/AN, which uses the accessor in VariantContext to do this. Somehow sites that were selected down to hom-ref genotypes only wound up getting positive AC.
**IMPORTANT** I kind of need input here. The header of a file used for an integration test specifies AC as being an integer. Recalculating it casts it into an integer list (which it should be, as it allows for alternate alleles). However this appears to clash with what the jexl expression is looking for? For now, the integration test itself needed to be changed -- it's unclear what to do when the header specifies AC of being one class, but recalculating it casts to another class, and I'm not sure what to do.
I'm committing my omni_qc pipeline because I'm almost certain 2 months down the road I'm going to wonder what the heck I did to generate my results.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4511 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-17 03:18:01 +00:00
7aa030a9a4
Hmm. Apparently variants can get lifted over to different chromosomes. Who knew? Reverting changes from a couple of days ago. The only way to do this correctly (without requiring lots of memory) is to turn off on-the-fly indexing for this walker. Integration tests cover this now.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4510 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-17 02:54:12 +00:00
8b2d387643
Added in an eval module that calculates the dispersion histograms between eval and comp (e.g. M_{i,j} = # of times eval observed to have AC i, comp AC j -- for af it's i/100 vs j/100 )
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4507 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 19:07:43 +00:00
f78ff08e2b
This is less correct than my previous change but it's what UGv1 does and now is not the right time to start mucking with things.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4506 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 18:56:45 +00:00
471c18054f
Fix for SB calculation: the best overall AF might not have any mass when just looking at reads from a single strand. We need to compute the best AF for each stratification.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4505 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 17:51:18 +00:00
42c3d74432
bug fix
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4503 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 16:27:40 +00:00
c9d473edee
More changes to Variant Eval and Genotype Concordance (passes all integration tests):
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1: -sample can now include a file, which will be parsed for sample-name entries
2: If you request a sample to run analysis on, but it is not present in any of your RODs, VEW will exception out
3: Change added to parse Integer, String, and List<Integer> type Allele Count annotations (error otherwise)
4 [slightly problematic]: The count objects now maintain row-keys in order, as the keys were taking an inordinate amount of time in onTraversalDone (multiple calls to getRowKeys(), so many multiple sorts of the same underlying unsorted object, very bad)
There is a legacy comparison object which is unused which I will strip out soon.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4502 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 12:40:36 +00:00
954dd84f51
Adding an integration test (against hg18 this time) that requires on-the-fly sorting in order to work properly.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4500 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 07:45:21 +00:00
9f54170dff
Hooking up the liftover tool to the new on-the-fly sorting VCF writer so that records can now get emitted in order.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4499 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-15 07:27:01 +00:00
d41c252b13
Looking over the calling results with Ryan, it's clear that while the grid search optimization (ignoring samples that are clearly ref) can work for assigning genotypes, it cannot be used for calculating P(AF>0). There's too much area under the likelihood curve that gets lost and the QUALs are negatively affected. However, testing showed that this only slightly affects runtime (~15 minutes per 1Mbase for the 1kg allpops). The optimization does remain for genotyping.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4498 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-14 19:06:32 +00:00
2606e67cf1
Reverting Matt's change from yesterday which I accidentally blew away when trying to cope with the stupid svn update issues we've been plagued with recently.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4495 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-14 14:40:42 +00:00
cfb33d8e12
Filtering optimizations are now live for UGv2. Instead of re-computing filtered bases at every locus, they are computed just once per read and stored in the read itself. Eyeballing the results on the ~600 sample set from 1kg, we cut out ~40% of the runtime! QUALs are now sometimes different from UGv1 because I noticed a bug in v1 where samples with spanning deletions only were assigned ref calls instead of no-calls which ever so slightly affects the QUAL. Not a big deal though.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4494 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-14 05:04:28 +00:00
4ac636e288
Minor change: when tabulating concordance by AC, ignore sites with multiple segregating alleles in the population, at least for now
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4493 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-14 01:35:33 +00:00
7c9ef59d65
This is simultaneously a minor and major change to VariantEval, so take heed:
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The core walker has been modified so that when variant contexts (eval and comp) are subset to command-line-specified sample(s), the chromosome count annotations (AC/AN/AF) are altered to reflect the AC/AN/AF of only those samples involved in the comparison. No more getting AC500 when you're comparing a 10-sample overlap. Interestingly enough, this didn't break any integration tests.
GenotypeConcordance now has two additional tables: Allele Count Statistics, and Allele Count Summary Statistics. These work exactly identically to the Sample Statistics and Sample Summary Statistics tables, except that the partition being used is no longer the sample, but instead the allele count of the variant sites. These tables stratify by both eval and comp ACs, e.g.
evalAC0
evalAC1
evalAC2
compAC0
compAC1
compAC2
Differences with previous integration tests were verified to only be in the Allele Count tables (by grepping them out of the diff); a new test has been added for the simple case of an AC=1 site in the eval becoming an AC=2 site in the comp.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4491 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-13 22:26:15 +00:00
83b8676b69
Hack to fix mysterious disappearing read attributes. Ultimately caused
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by the fact that the GATKSAMRecord, by design, needs to both inherit from
SAMRecord and wrap a 'member' SAMRecord, and method calls that aren't
implemented as explicit passthroughs can compromise the content of the
SAMRecord in subtle ways.
Will be automatically fixed when Picard moves to a lightweight SAMRecord
interface rather than the current heavyweight implementation. But in
the short-term, there's no obvious fix.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4489 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-13 19:06:54 +00:00
da29fcdb68
No longer writes the index to disk twice. But fixes for closing VCFWriters throughout the codebase
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4488 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-13 14:26:06 +00:00
28a1020c89
comment out debugging line that was clogging the performance test output.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4487 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-13 03:26:55 +00:00
272ac2ae4a
more fixes for tests broken by indexing-on-the-fly; I think this should do it.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4486 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-13 01:54:32 +00:00
ed39af53cd
Fix for exception when trying to load reference segment for a read that aligns
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to 0 bases.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4485 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 23:50:51 +00:00
fe9f128631
Better fix for earlier bug.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4484 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 19:21:33 +00:00
ff0df1a2da
A fix for an integration test that was broken by on-the-fly indexing. Also, better reporting of Tribble exceptions in GATK integration tests. Trying to get the tests back up and running...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4483 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 18:39:56 +00:00
69652e08c6
Bug fix for reads that completely fall within an insertion: the I cigar string element was 1 base too long.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4482 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 14:46:21 +00:00
f348ca2976
Now processes VCF files with repeated loci without crashing.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4481 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-12 04:36:07 +00:00
fd8351cd49
Get rid of useless test/'optimization' that was carried over from UGv1. New codde is (minimally) faster with same results.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4478 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-11 04:04:07 +00:00
f28523e7de
Implemented SB for UGv2.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4477 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-11 03:56:01 +00:00
7008a469dc
Update MalformedReadFilter to pass reads that have cigar strings like 40S36I
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that have 0 aligned bases in the genome. We'll have to fix walkers as faults
appear.
Also added JIRA GSA-406: finer-grained control of MalformedReadFilter: want
to exception out by default in these cases but pass them with a warning with
a corresponding -U flag.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4476 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-11 03:01:04 +00:00
530875817f
Experimental code for better filtering of bases in sam records. Not hooked up yet.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4475 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-11 02:19:51 +00:00
a0de269c4b
Better message
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4474 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-10 20:11:51 +00:00
0a4cf02a52
Fix for index out of bounds exception in VR.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4473 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-10 17:35:15 +00:00
116309b3c3
More test cases for UG integration test. We currently fail doing multi-threaded gzip output, FYI
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4472 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 20:22:12 +00:00
38a67fed63
High performance version of standard vcf writer. New general static Tribble class for common constants, including general .idx constant and functions to get standard index name for a given file.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4471 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 19:53:21 +00:00
bdd3a9752e
Changed min MQ and BQ to 20 (for phasing)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4469 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 19:27:45 +00:00
05500d1a8d
An iterator wrapper/adapter: takes GenomeLoc iterators 1 and 2 and traverses intersections of intervals from 1 with intervals from 2. Both 1 and 2 must be SORTED and NON_OVERLAPPING, but this iterator does NOT perfrom any checks, so if these conditions are not met, the behavior is unspecified
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4468 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 16:34:00 +00:00
253d528e49
not ready for commit yet
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4467 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 15:30:55 +00:00
4f2f33b42a
fix method invocation to conform to new API; this version of the code will compile but new functionality is still not fully in
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4466 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 15:30:26 +00:00
cece19d4d2
not ready for commit yet
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4465 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 15:14:54 +00:00
39e373af6e
deleting accidentally committed junk
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4464 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 15:13:01 +00:00
b3d81984aa
renaming MergingIterator to RODMergingIterator as it is more appropriate for this specialized implementation
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4462 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 14:10:11 +00:00
77dddd0afa
renaming MergingIterator to RODMergingIterator as it is more appropriate for this specialized implementation
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4461 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 14:08:28 +00:00
21ec44339d
Somewhat major update. Changes:
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- ProduceBeagleInputWalker
+ Now takes a validation ROD and a prior to give it, will use those genotypes in place of the variant genotypes if both are present
+ Takes a bootstrap argument -- can use some given %age of the validation sites
+ Optionally takes a bootstrap output argument -- re-prints the validation VCF, filtering those sites used as part of the bootstrap
-BeagleOutputToVCFWalker
+ Now filters sites where the genotypes have been reverted to hom ref
+ Now calls in to the new VCUtils to calculate AC/AN
-Queue
+ New pipeline libraries for easy qscript creation, still a work in progress, but this is a considerable prototype
+ full calling pipeline v2 uses the above libraries
+ minor changes to some of my own scripts
+ no more need for contig interval lists, these will be parsed out of your normal interval list when it is provided
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4459 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 13:30:28 +00:00
97b153f2fa
Quick fix
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4457 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 06:10:52 +00:00
acd238f3f2
For Chris: pull out the chromosome counting code into VCUtils so that other tools can make use of it. Transitioned SelectVariants over to use it.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4456 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 04:37:54 +00:00
3838823262
Two ugly hopefully temporary fixes for new genotyping model:
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a) In Indel genotyper: we can't deal yet with extended events correctly and we are still triggering at each extended event which results in repeated records on a vcf. So, to avoid this, keep track of start position of candidate variantes we've visited and if we've visited a variant before we don't do it again.
b) Avoid infinite terms in QUAL and in genotype likelihoods which can happen if posterior AF happens to be exactly zero. For now, hard-code a minimum value of each term of the posterior AF likelihood to be -300 (ie 1e-300 in lin space). This can be solved with better and smarter log-to-lin conversions and some precision fixes in AF calculation.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4455 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-08 00:53:16 +00:00
0a2e76e9dc
2nd step towards on the fly indexing. Also fixed parsing bug for headers with < symbols
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4454 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-07 21:38:46 +00:00
7bb9704592
Update the BeagleOutputToVCF integration test because of removing the source header line. Source headers are provided by the engine for all VCF files now.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4453 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-07 19:55:57 +00:00
0de658534d
Removed the qScale arguments in VariantRecalibrator. It is smarter about how it tries to find a cut so the arbitrary scale factor hopefully is no longer necessary. Now the recalibrated variant quality score more accurately reflects our believed lod of the call.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4451 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-07 18:04:57 +00:00
ee00dcb79d
1. Phasing now ignores bases without minimum base quality (BQ) and minimum mapping quality (MQ); 2. The probability of a non-called base is now divided by 3, to evenly split up the error probability over the non-called bases
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4450 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-07 17:40:59 +00:00
6205910f9f
updating integration test for Sarah Calvo
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4449 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-07 04:03:37 +00:00
652a3e8de5
Added integration tests for ReadBackedPhasing
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4446 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 20:50:32 +00:00
f8f1cc45a3
Now ReadBackedPhasing caps Base Quality by Mapping Quality
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4445 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 20:48:57 +00:00
bda427f078
Change specification of AnnotationInputTable, and fix 2 bugs.
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Previous output spec contained 3 columns:
haplotypeReference,haplotypeAlternate,haplotypeStrand
where haplotypeReference was always on the + strand, and haplotypeAlternate was on the strand specified by haplotypeStrand.
The new specification contains 3 columns:
haplotypeReference,haplotypeAlternate,transcriptStrand
where haplotypeRef and haplotypeAlt are required to be on the + strand. transcriptStrand now specifies the strand of the transcript, which is needed for interpreting the haplotypes.
Bugfix #1 : fix incorrect assignment of variantCodon and variantAA
(Previously variantCodon was incorrectly set to referenceCodon)
Bugfix #2 : fix incorrect codingCoordStr values for - strands (bug reported by Giulio Genovese), and incorrect usage of "m." for mitochondrial transcripts (bug reported by Steve Hershman)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4444 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 20:46:09 +00:00
b5c127e643
Removed HAPLOTYPE_STRAND_COLUMN; Previously, GenomicAnnotation allowed a user to specify the strand of the haplotypeAlternate, and would reverseComplement the haplotypeAlternate if HAPLOTYPE_STRAND_COLUMN was "-". The new specification does not allow this functionality, and instead requires both the reference and the alternate haplotypes to be on the + strand (as in VCF format).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4443 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 20:37:41 +00:00
ca5db821ce
Added the ability to Queue to run scala functions inside the JVM. NOTE: Extend from InProcessFunction instead of CommandLineFunction to use this functionality.
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Queue now submits new LSF jobs only after previous functions have completed successfully.
When the Queue process is shutdown (ex: via Control-C) sends a bkill command for any running jobs.
Ported commands like creating directories and scatter/gather interval list to scala functions.
Updates to LSF status tracking by porting the python to internally generated bash scripts.
Temporarily disabled job name submission to LSF. Plus side is that the full command is now available in "bjobs -w". TODO: Put back jobName passing to LSF based on an option?
Changed BaseTest to allow scala to access paths to references.
Changed the extension generator to default the analysis name to the walker "name".
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4442 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 18:29:56 +00:00
3c5dc675ab
For Guillermo: only decide that something is a clear reference call if it is at least 10 times as likely as the next best genotype
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4441 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 15:16:41 +00:00
00491fcd2e
Only see not writing GATK Run Report if you are running with debug enabled
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4437 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 14:09:21 +00:00
69485d6a7a
Added command line argument for the max value of the allele count prior in VariantRecalibrator (--max_ac_prior). Default value increased to 0.99 from 0.95.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4436 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 14:00:53 +00:00
3d564f4a29
reverting an accidental change from the dindel merge
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4434 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-06 03:08:09 +00:00
b5e148140b
Officially fixed the UG priors; updated the default min MQ/BQs to pipeline values of q20 and min calling threshold to Q50
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4431 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-05 18:35:36 +00:00
c6668bd49c
Fixed bug in phasing, where mapping probability was incorrectly raised to the power of number of non-null bases [instead, it is just multiplied into phasing probability once]
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4430 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-05 17:07:31 +00:00
250c18e679
Error message fixes for the following issues:
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nvjpM4yOwQAu3fNGxi4oXLuVpKn6aAlf,1GL0OuXK2xKQfvbu34tWYgbojSVSLo0l,
ehEGBJOfgc4V7qj8W0Homf5ICuVK5Sm3,cZsreLm1CbY3aYKZhV7DOSvQNwur41zp,
GlrlyGEyP9kJDIRCQNFQp7BGJBXSzdDJ,hyz1uiHXr39ANmdZu9K1epOSX8EL3mDw,
q0n4EucZESCI4LZhQik306zD4VAuH2cb.
Messages:
camrhG5tHzlY9WUSEVpVZGkU1tyJqKb5,s0OX2g7nYRctJxyFoQCa6clac9IsjHyi,
THIAtjllvYNlnTmiMnJEIHd2Ju4gqQIO,jwVk3JYZJNHloW7HO4LeGxFexknqro0v,
BFNRGOGmGGJNNPZqgeF1ikTNFfskbyLc,...
Were fixed in 4392.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4428 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-05 03:37:13 +00:00
hanna
ebanks
kshakir
delangel
chartl
depristo
fromer
asivache
rpoplin
aaron
bthomas
kiran
scalvo