4dbdf7a13d
Added ability to sample from intra-het distance distribution
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4836 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-14 18:09:03 +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
4403b9d276
Added probability bound on phasing paths, which slightly speeds up calculations. It seems that a real speed-up can only be achieved by considering fewer paths by doing some form of caching of sub-problems (e.g., dynamic programming or matrix multiplication, as Mark suggested)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4832 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-13 23:53:56 +00:00
f36861eeee
One more little bfix -- the issue was not the grep command, but instead the NFS in the awk; i changed it to ++count in the last commit which was really responsible for the fix. Then this ultra-escaping semi-broke teh grep again.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4831 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-13 20:36:14 +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
d34c5640d2
Bugfix for clf version of extract samples. Due to dynamic shell creation and bsubs and whatnot, the OR pipe for grep ("a|b") needs to be super-escaped ("a\\\\\\\\|b").
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4829 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-13 19:06:30 +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
f795b25c47
In-process versions of sample extraction and interval-list conversion for VCF files. Required an in-process-function branch of the queue library.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4827 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-13 17:36:53 +00:00
e219f6a4b5
Q script to run VQSR on a whole variety of common data sets. To be used as a basis for general methods development pipeline
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4826 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-13 16:55:52 +00:00
a6397ed8c3
Default R script now plots sensitivity/specificity curve
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4825 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-13 16:55:11 +00:00
7bc2049031
Updates and bug fixes to private mutations qscript and pipeline libraries. Hand filter strings are now not busted (boo to having to escape quotes); convenience method added to VariantCalling to propagate standard trait data to a given GATK command line -- should be made more scala-esque in the future.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4824 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-13 04:55:13 +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
81290d238d
Restructuring my qscripts
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4821 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-11 20:58:45 +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
2bf4fc94f0
Try to use more sampling to get a "correct" estimate of multivariate integral
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4815 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-10 02:58:46 +00:00
c64bf80b57
Added theoretical model of read-backed phasing (RBP)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4814 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-10 01:46:09 +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
27acede64d
Removing old arguments. We'll now be running with the defaults.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4811 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-09 18:58:56 +00:00
fabb42924c
Minor improvements to my crappy old python job management system. Mauricio's first task is to retire all of this code and move the DPP pipeline over to Queue
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4810 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-09 04:44:16 +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
f8dd59c1d1
Tightening of the batch merging pipeline. Optimized to run on hour queue, so please: if you run this, crush 'hour' with it. Testing is forthcoming, but it merged 700 samples overnight.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4805 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-08 14:36:23 +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
02de9a9764
With multi-sample genotyping must come scatter+gather. Also Khalid informed me of the .group(size) method, so removing my useless (but pretty) code.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4797 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-06 20:12:23 +00:00
f4c43f013f
Due to the overhead for reading VCF files (>32g for 700 5MB VCF files), batched merging has to generate likelihoods in batches.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4796 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-06 18:23:54 +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
aec6c0a030
BAQ reorg
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4794 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-06 17:23:51 +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
0944184832
Major refactoring of library and full calling pipeline (v2) structure.
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Arguments to the full calling qscript (and indeed, any qscript that wants them) are now specified via the PipelineArgumentCollection
Libraries require a Pipeline object for instantiation -- eliminating their previous dependence on yaml files
Functions added to PipelineUtils to build out the proper Pipeline object from the PipelineArgumentCollection, which now contains
additional arguments to specify pipeline properties (name, ref, bams, dbsnp, interval list); which are mutually exclusive with
the yaml file.
Pipeline length reduced to a mere 62 lines.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4790 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-05 02:33:54 +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
fromer
ebanks
kshakir
chartl
delangel
depristo
hanna
corin