9dfe4c9cb7
moving GenotypeAndValidate to the playground. It's ready to be used.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5438 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-14 19:19:18 +00:00
33c7593218
YAML integrated mendelian violation utility class, integrated and tested through select variants. Wiki is updated.
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ps: I moved it out of tribble. If you think it should reside in a different place, just yell at me.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5436 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-14 16:43:37 +00:00
5406e779d2
Ryan noticed that I accidentally killed a public interface method for getting tag information.
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Reinstated. Proper unit test to follow.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5434 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-14 15:51:19 +00:00
3e3ec85807
Checked for consistency with the previous integration tests, and updated the walker and test to use the new I/O system (always prints 4 digits on floats.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5433 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-13 15:24:22 +00:00
b99e27bf9b
In the process of optimizing ProduceBeagleInputWalker, discovered that the GenotypeLikelihoods, the UG, and Genotype objects were using old-style GL tags internally, and then converting from Likelihoods -> GL String -> Likelihoods -> PL String throughout the GATK. It was both painful and led to convoluted code throughout the system. Removed everything but GL conversion -> PL in the GenotypeLikelihoods objects, and now all of the codes in UG now immediately provides GenotypeLikelihoods to the Genotype objects, which is converted straight to PL now. Resulted in a 30% speed up in ProduceBeagleLikelihoods, passes integration tests without any modifications, and likely speeds up writing any VCFs with likelihoods.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5432 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-13 00:07:51 +00:00
ceb08f9ee6
Moving some math around in VQSRv2.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5431 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-12 15:15:05 +00:00
d01d4fdeb5
Optimized version of produce beagle tool, along with experimental (hidden) support for combining likelihoods depending on estimate false positive rate.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5430 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-12 02:06:28 +00:00
ee8f2871f7
A better output for Genotype Concordance summary. Now does only % comp hom-ref called hom-ref, het called het, and hom-var called hom-var, which are the quantities we typically show in slides. Updated intergration tests to reflect this change.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5429 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-12 02:03:48 +00:00
93de326066
Added a new @PartitionBy for walkers to specify how to cut up their inputs.
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Now building all javadoc.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5428 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-12 01:33:08 +00:00
8ca3390ee0
Low level plumbing work required to have a context dependent error model with the new indel probabilistic alignment model. This just adds an extra input argument and does some refactoring so that when an actual model is ready it will be easy to plug in.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5427 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-12 00:00:55 +00:00
e35a67b3cc
changed the name of the parameter to make the wiki more uniform.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5426 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-11 17:54:53 +00:00
4a84a81d17
SelectVariants: added parameters for mendelian violation. Given a trio vcf, it will generate a VCF with the sites that are mendelian violations.
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GenotypeAndValidate: now annotates the validations with callStatus.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5425 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-11 17:47:53 +00:00
b03055099a
a) Changed the way we classify and log indel events (e.g. in IndelClasses table inside IndelStatistics VE module). Made names clearer, and split logging of event length with number of repetitions of event.
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b) Add an experimental annotation to log indel type string inside the INFO field, just for debugging/temp analysis purposes (will consider making it standard if it proves useful).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5424 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-11 17:37:41 +00:00
b3464a6031
Initial commit of VQSRv2 that passes the old integration tests. Not ready to be used yet unless your name rhymes with ... oh wait, that's me.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5419 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-11 15:18:34 +00:00
ccc773d175
Refactoring, cleanup, and performance improvements to ProduceBeagleInput. It's really a shame that there's no integration tests...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5418 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-11 13:55:30 +00:00
097a9a59e8
Updated LSF libraries to use Pointer instead of Structure.ByReference for struct arrays since the the latter is autoRead() and LSF doesn't always return null for empty arrays.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5417 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-10 22:58:54 +00:00
4baeb5979f
It turns out that Math.log10() can return 0, which leads to QUALs being set to -0, which is off-spec.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5415 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-10 03:08:56 +00:00
3596c56602
New attempt at the constrained movement version of the indel realigner (I've kept around the old writer for now). The new contract is that the realigner must ask permission before trying to clean an area; permission will be denied by the CM-Manager if it was required to flush its cache of reads because of too much depth within a distance of maxInsertSizeForMovingReadPairs. Added integration tests to cover different max cache sizes, including an expected exception when too small a value is chosen. The actual logic changes were fairly minor - much of this commit is really just some cleanup. I'd like to throw 1000G Phase I at it, but will respectfully wait for Ryan to hit his deadline before doing so.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5414 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-10 02:48:29 +00:00
ff7edc4493
Minor bug fix in empiricalMu prior calculation in VQSR.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5412 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-10 00:42:38 +00:00
0b45de14ed
Some minor updates to fully utilize the functionality of reduceByInterval
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5411 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-09 20:38:08 +00:00
509daac9f7
Minor bug fix in k-means implementation. Updating VQSR integration tests in preparation for VQSRv2 by removing some unused features such as VariantDatum.weight and ti/tv cutting.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5410 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-09 00:26:28 +00:00
fa7284b7a1
Genotype And Validate walker is now ready to be used by anyone.
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given an annotated VCF and a BAM file, it genotypes (using the reads in the BAM) each variant in the VCF (for snp or indel) and validates (or not) the 'known' annotation. Outputs a truth table with the PPV and NPV values, and optionally a vcf file with the variants that had enough coverage to be validated. You can optionally provide a minimum depth of coverage and only do the analysis conditional on that. (will write a wiki for this walker, as it might be useful for future validation essays).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5409 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-08 22:10:38 +00:00
da88c29b6e
Added a module to test for reference mismatch associations, and a self-normalized/self-normalizing version.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5408 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-08 20:01:28 +00:00
31a2575c7b
Fixes:
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- Don't know how I got the wiggle header so utterly wrong. Fixed.
- Q-values now have a static maximum of 2000 so IGV averaging won't make everything look spikey and ugly.
- Changing windows to size 100 for (hopefully) better resolution.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5406 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-08 17:16:21 +00:00
1b310401fe
Due to the approximation not being well-founded in this case, (and the non-existence of a pre-computed table at this time), pushing up the cutoff
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5405 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-08 16:24:42 +00:00
77fe902dbd
Testing modules now use wider windows and heftier shift, hopefully this will remove some of the noisiness of the results. Some UStatistics were changed to TStatistics to try and limit noisiness as well. Walker will also additionally write out wiggle files directly (which can be converted into "proper" tdf files via igvtools tile [args] [in].wig [out].tdf [ref]) subject to some restrictions. MWU could get stuck in a long-running recursive regime, it'd be nice to have a table lookup or a good small-n large-m approximation, for now the uniform should work just fine.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5403 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-08 15:26:13 +00:00
b733cba7c7
re-fixing for a different approach suggested by eric!
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5402 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-08 04:54:49 +00:00
85ff983a59
Failed to include some required GenomeLoc utilities in my last commit.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5397 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-07 23:00:17 +00:00
02006954bc
UG: small bug fix when creating empty variant contexts in UG for the -EMIT_ALL_SITES to allow indels.
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GAV: First version of the walker that validates reads from a BAM file based on an annotated VCF with TP/FP annotations.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5396 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-07 22:51:04 +00:00
9384b2ff65
A few quick fixes to temporarily make the LowMemorySharder return exactly the
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same shards as the previous sharder, so that I can directly compare filespans
to see where some performance bugs lie.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5395 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-07 22:43:14 +00:00
0b4e51317b
Now includes project consensus high sensitivity data set
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5394 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-07 20:52:11 +00:00
73e43d8d2c
Added functionality:
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-disc (--discordance) parameter together with a ROD track will output a VCF with the variants in the ROD track that are not present in the 'variants' VCF. Useful tool to list the variants from hapmap (for example) that weren't called in a dataset.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5392 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-07 19:18:15 +00:00
8c262eb605
Initial commit of new likelihood model to evaluate indel quality. Principle is simple, a plain Pair HMM with affine gap penalties (in log space) that does quasi-local alignment between reads and candidate haplotypes and which in theory should be more solid and more reliable than the older Dindel-based model. It also allows to be easily extensible in the future if we decide to introduce either context-dependent and/or read-dependent gap penalties.
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Model is disabled by default and we're still using the old Dindel model until I'm more confident that new model is a definitive improvement, so right now this is enabled by hidden command line arguments, and it's not to be used yet.
In detail:
a) Several refactorings to share softMax() available to other modules, so its now part of MathUtils.
b) Refactored a couple of read utilities and moved from BAQ to ReadUtils.
c) New PairHMMIndelErrorModel class implementing new likelihood model
d) Several new hidden debug arguments in UAC.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5389 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-07 15:31:58 +00:00
96fe540d66
Removing .tmp~ file.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5388 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-07 14:52:38 +00:00
92045ecaa6
Finally figured out what data in the LSF C API call lsb_readjobinfo is causing JNA to SIGSEGV with a strlen error:
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- LSF recycles memory for C arrays, but sets a separate variable setting the size of the array to zero.
- JNA only sees the non-NULL pointer and starts to auto-access it, sometimes causing a SIGSEGV.
- In the short term neutered the jobInfoEnt structure so that this bad array is not autoRead().
QGraph updates:
- Job status is now checked in bulk every 30 seconds instead of one job at a time, even in the middle of dispatching jobs.
- If there is a hiccup (unexpected but not fatal error) during status check then the the error is ignored and status is checked again 30 seconds later.
- Jobs prefer to dispatch depth vs. breadth first.
More refactoring of SG framework separating the reusable code from the implementations.
The DistributedScatterFunction is still a work in progress and is not enabled yet. Still need to think through how Queue handles when a job dies.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5387 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-07 04:29:06 +00:00
60ddc08cdf
Added a boatload of new case-control association modules. Switched the U-test to use longs rather than ints (it just so happened that I overflowed and started getting negative U statistics. Not good.) Added the ALL association type for ease of specifying that we want to throw the book at something. Added an svn-commit.tmp~ because i can't get rid of it even with --force. Hopefully I can remove it after.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5386 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-06 21:58:12 +00:00
5c979633f0
Due to a problem in the way that dynamic type selection works, I've added an explicit (temporary) ability to restrict VE to specific variant types (SNPs, INDELs, etc), so that calculations will work when a site has a SNP in dbSNP but is called as an indel, causing the SNP site to mysteriously disappear from the comp track, a huge problem for validation report. VEU updated to allow both dynamic type (old) and just returning everything in the track.
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Also, created a standard Queue script that calculates a suite of standard indel and SNP assessment results. Will be the basis for a general evaluation Queue script with standardized data files for SNPs and Indels.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5385 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-06 19:31:12 +00:00
2f1e249aed
A proper validation report, calculating TP, FP, FN, sensitivity, FDR, PPV. Treats comp as a set of sites that have been either filtered (failed in assay), validated (polymorphic among samples), or invalidated (AC=0 or all genotypes = hom-ref). Very useful.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5384 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-06 19:27:40 +00:00
af71576a07
CalculateChromosomeCounts() now only calculates AC, AF, and AN when there are genotypes. Can now combine variants with headers that differ in only whether a field is a integer or a float. Updated CombineVariants integrationtest, as incorrect AC values where being calculated in the previous GS outputs.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5383 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-06 19:25:52 +00:00
5b8fdc5b1f
Slightly optimized calculation for ~linear exact model, as well as totally incorrect banded calculation, for future development, if this proves useful.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5382 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-06 18:47:08 +00:00
fc5a071de2
Output format is 10^6 times better - now uses the multiplexer to write tdf tracks that can (after conversion to binary with igvtools) can be loaded directly into igv.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5381 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-06 18:23:52 +00:00
a40a8006b5
Added in unit tests for the statistics calculated by the test runner; and bug-fixes to the calculations; so we have some assurance that the statistics coming out the back-end are correct.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5380 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-06 16:54:02 +00:00
c40efe1dea
Fixed exception for BAMs without filenames (unit tests, BAM input streaming,
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etc.).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5379 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-06 13:43:49 +00:00
ad51f30244
A trivial, but useful, sum of a list of integers
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5378 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-05 06:09:05 +00:00
9a8356892a
Cleaner error (really now just warnings) if you can't reach the S3 for logging
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5377 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-05 06:08:35 +00:00
10516f5de4
Fixed one low-memory sharder performance culprit: regions with no BAM data
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whatsoever were misusing the Picard MergingIterator, triggering a re-traversal
through the entire contig.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5376 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-04 21:26:22 +00:00
337b54136f
2 fixes. For Mark: when insertions can be partially left-aligned, we were reading off the wrong bases. For GS post: the stored VariantContext.REFERENCE_BASE_FOR_INDEL_KEY needs to be updated when left-aligning because it can change.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5375 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-04 21:00:08 +00:00
b42005e7d7
Fixed issue where comp tracks with genotypes that didn't exactly overlap the eval track were getting dropped. Fixed issue where the 'row' column wasn't being output for things implementing TableType. This is an urgent patch for Mark - it'll break tests until I go back and update the md5s.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5374 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-04 16:51:12 +00:00
1861ca90fc
A change to the definition of CpG sites (is now, from 5' to 3' a CG dinucleotide in the reference, and the CpG site is at the C, rather than either at the C or a G).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5373 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-04 15:36:07 +00:00
9ca1dd5d62
Miscellaneous changes:
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- RefMetaDataTracker: grabbing variant contexts given a prefix (not sure where else this was implemented, if someone can show me I'll remove it)
- VCFUtils: grabbing VCF headers given a prefix
- MathUtils: Useful functions for calculating statistics on collections of Numbers
- VariantAnnotator: Made isUniqueHeaderLine a public static method -- maybe this should go into a different class. Not sure.
- Associations: PluginManager now used to propagate classes, implementations for Z,T,U tests, slight alteration to format to make the objects stored
in the window optionally different from those returned by whatever statistic is run across the window
Added:
- MannWhitneyU. Started to fix up WilcoxonRankSum but there are comments in there questioning the validity of some of the code, and I'm sure that
it's actually doing a U test. This implementation includes the direct calculation of p-values for small sample sizes, and a uniform approximation
for when one of the sample sets is small, and the other large. Unit tests to follow.
- BootstrapCallsMerger: takes n VCFs which have been called on the same samples; merges them together while averaging the annotations
- BootstrapCalls.q: qscript for testing the effectiveness of boostrap low-pass calling on the exome
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5372 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-03 22:43:36 +00:00
8ae42b70ac
give it an annotated VCF and a BAM and it creates a truth table on the validation of the VCF calls. This is just the first version, not ready for primetime.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5371 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-03 21:45:11 +00:00
f7ef35b8f5
Removing untrue comments in the GaussianMixtureModel
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5369 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-03 18:18:47 +00:00
9e12cd1312
Gotta include the changes i made to get an init function into the contexts
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5368 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-03 15:45:51 +00:00
835a26d145
A pass at a sample-normalized test. I think maybe all of them will simply do their own normalizing.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5367 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-03 15:42:25 +00:00
ef38fd1e0e
Major refactoring of association testing framework. New modules are now beyond trivial to implement. One hurdle remains which is how to deal with statistics that ought to be sample-normalized (e.g. depth, insert-size [when multiple libraries are used], and possibly others).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5366 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-03 14:27:16 +00:00
5d4bbf41fb
Behave intelligently in the deepest levels of GATK record filtration when
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we find a read flagged as 'mapped' in the unmapped region at the end of the
file.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5365 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-03 04:52:55 +00:00
7a22f19366
More descriptive error when VerifyingSamIterator hits an inconsistent alignment. Also updated
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case UserException.MalformedBAM to match case of UserExceptio.MissortedBAM for consistency and
ease-of-use.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5364 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-03 03:55:24 +00:00
0181d95fe4
Intermediate optimization checkin. LinearExact model now about 10-20% faster than previous commit, by reorganizing and optimizing the if statements and genotype likelihood calculations. Next commit will include a banded implementation.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5362 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 22:01:35 +00:00
f0f4bc3363
This was busted because it assumed 1 (and only 1) record at each position. However it's possible to have 0 (which generated a NullPointer) or 2+ records (which dropped records).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5361 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 21:35:50 +00:00
c152ef4339
Better error message for unknown reference file extension.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5359 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 17:52:16 +00:00
bef83b8b09
Bug fix: was tracking state across BAMs that should've been tracked per-BAM.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5358 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 17:32:06 +00:00
bafa61c1fe
LINEAR_EXACT now the default model. Passes all integration tests. 2-3x faster in low-pass data. Tests on exome data ongoing, but potentially vastly faster there.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5357 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 17:14:36 +00:00
8e1aa6059a
New mode for CombineVariants to assume the incoming VCFs have the same samples and disjoint calls. Drastically reduces the runtime for routine combining operations. Very useful with Queue.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5356 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 15:52:17 +00:00
5e4b321f86
Add hidden command-line argument for low-memory sharding.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5355 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 15:13:16 +00:00
ae42c0c7da
Bug fix based on GATK run report
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5354 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 14:18:12 +00:00
660998065b
'Okay, now I'm absolutely certain that there are no more bugs in the constrained writer.'
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5353 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 03:48:40 +00:00
880c607d79
Disable validation of linear index against original linear index process.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5352 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 01:51:26 +00:00
dc62685a2f
For Ryan: force creation of BAM index when no reads are present in the BAM
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file. Temporary fix until Picard changes the behavior of indexing.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5351 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 01:50:42 +00:00
570186fa42
Added (deep) clone() and merge() to the RunningAverage utility class
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5350 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 00:35:23 +00:00
43567b7fe3
Load the linear index without forcing the index for the entire contig to be
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loaded into memory.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5349 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-02 00:08:39 +00:00
a20ce1436d
A temporary @hidden hack to get indel calling done for Phase I: don't try to call if there's too much coverage. Do not use this unless your last name rhymes with Shmoplin.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5348 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-01 19:22:27 +00:00
3c7ae0d1a6
Special case handling of unmapped region in low memory sharder.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5346 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-01 17:38:30 +00:00
dd30ad751a
Fix bug in low memory sharder's interval accumulator.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5345 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-01 17:11:22 +00:00
d6145de970
More comprehensive tracking of position when bin trees are sparse.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5344 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-01 15:53:43 +00:00
bb969cd3a2
EMIT_ALL_SITES now does exactly that - even when there's no coverage or too many deletions
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5343 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-01 05:05:00 +00:00
0723b0f44c
Generalized association is now working. Output is in a horrific format. Implementation of T-testing. Improvements are to look for classes dynamically (a la VariantEval/VariantAnnotator), beautify output, and do optimizations where they exist.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5341 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-01 01:23:37 +00:00
ce34a8a918
New hidden option in VQSR to not parse the genotypes of the incoming training data. Updated VQSR training in methods development pipeline to be more in line with best practices.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5340 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 23:19:51 +00:00
e7089f9870
Fix for particularly small, isolated intervals: make sure the bounds of the
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bin tree are dictated by the lowest bin level, whether it exists or not.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5339 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 22:35:53 +00:00
c869d1c9cf
Fix misc issues in new protosharder regarding proper iterator termination when
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an unexpectedly small amount of data is present.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5338 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 21:14:18 +00:00
e75366f738
Fixed performance issue in protosharding code -- turns out that the index
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optimizer was mutating the data stored in the indices. Protosharding still
disabled by default.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5334 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 17:32:12 +00:00
8de83725f9
Simple walker to randomly break VCF files into (potentially unequal) subsets. Useful for e.g. cutting hapmap into training and evaluation sets.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5333 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 16:51:46 +00:00
d059d89a9d
Fixes and cleanups for indel eval module. Also outputs AT/CG ratio in dedicated column in IndelStatistics.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5332 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 12:07:50 +00:00
05fac8583d
Following up Mark's recent commit: hooking up the --maxPositionalMoveAllowed argument into the indel realigner and through to the SAM writer. We now ensure that no read is realigned more than N bases (200 by default, which is nowhere close to realistically possible). If anyone ever sees a warning message about this with the default value then please let me know because I need to see it for myself.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5331 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 04:40:54 +00:00
874406352c
Accidentally commited the N2 comparing test as well...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5330 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 04:15:30 +00:00
1dedfdb11b
Fixes for constrained movement Indel Realigner. Now sorts all of the reads in the interval before handing them to ConstrainedMateFixingSAMFileWriter to maintain correct contract between the two pieces of software
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5329 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 03:52:18 +00:00
d216830b92
Experimental linear version of the exact model. In testing, but gives identical results to N2 gold standard version, and passes integration tests. Performance optimizations still ongoing.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5328 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-28 03:48:11 +00:00
54facb2c51
Small change for Mauricio so that the correct metrics get output when running in GENOTYPE_GIVEN_ALLELES mode.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5327 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-27 06:08:32 +00:00
7ff8d23c64
Don't do genotype concordance on comp tracks without genotypes, even if they have an AC
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5321 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-25 21:11:50 +00:00
600f73cbd6
A checkpoint commit of two BAM reading projects going on simultaneously. These two projects
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are works in progress, and this checkin will provide a baseline against which to gauge
improvements to both projects.
Low-memory BAM protoshards (disabled by default):
- Currently passing ValidatingPileupIntegrationTest.
- Gets progressively slower throughout the traversal, but should run at least as fast as original implementation.
- Uses 10+ file handles per BAM, but should use 3.
BAM performance microbenchmark test system:
- Currently tests performance of BAM reading using SAM-JDK vs. GATK
- Tests do not hit all GATK performance hotspots.
- New tests that require input data in a slightly different form are hard to implement.
- Output of test results is not easily parseable (investigating Google Caliper for possible improvements).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5317 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-25 17:50:32 +00:00
5d28cbda27
When crossing contigs it's crucial that the queue get flushed or else it will continue to accumulate reads without emitting. This is the last time I trust someone when they tell me that they are 'confident there are no bugs' in a tool.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5315 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-25 05:18:30 +00:00
1129f1535d
Fix for the HaplotypeScore optimization in AlignmentUtils
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5310 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-24 20:40:18 +00:00
0f1c1fa26f
First general association module. Let the bug fixing begin!
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5307 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-24 19:55:33 +00:00
292b421113
Framework for generalized association testing. Heavy lifting done in implementation of the AssociationContext(s) and AssociationContextAtom(s). Nothing really implemented.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5306 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-24 18:12:39 +00:00
2f2aa339d9
Now makes all pairs, not only the good ones. The logic of selecting the "best" pair when the data are messy (e.g. multiple alignments available for an end) is still very naive
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5303 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-24 16:21:26 +00:00
abf3fcbb72
Little changes in recognized annotation terms; columns in annotated maf are now prioritized and multiple alternatives do not cause 'i don't know what to do' crash: e.g. if Chromosome and chr columns are both present, then Chromosome is taken (has a priority).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5302 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-24 16:19:06 +00:00
255cc246a2
Change in Methods development pipeline: dbsnp130 can't be used for anything, changed it to dbsnp129. Optimization for HaplotypeScore and the to-be-committed ReadRosRankSumTest in AlignmentUtils
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5301 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-24 16:09:03 +00:00
97e1a5262e
-ct x no longer includes coverage in the previous bin
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BatchMerge - additional support for indels (can't just test the alternate allele when it's an extended event, must also specify that you want to use the dindel model when you actually test the allele)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5300 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-24 15:52:04 +00:00
ee6f112556
Phase 3: constrained movement is now the only option available in the realigner (so I guess technically it's not really an option). Several command-line options are deprecated. Code cleaned up. Wiki updated. Release coming. One phase left...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5299 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-24 14:59:48 +00:00
93888e570b
Phase 2: after hours of testing, confirming that constrained mode looks good so moving the integration tests over to use it. Some cleanup. More cleanup coming in Phase 3.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5298 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-24 06:23:41 +00:00
75bd0129e7
quick bug fix.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5296 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-23 19:16:20 +00:00
carneiro
hanna
depristo
rpoplin
kshakir
delangel
ebanks
fromer
chartl
kiran
asivache