Commit Graph

4436 Commits (ab5c4064edb2ade90da3fef96c10df5cd5a2d430)

Author SHA1 Message Date
hanna 8f9bf82aa7 Bamboo is correctly interpreting test fails. Reverting forced-fail test
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
hanna 1df166b76e Forcing a unit test fail to ensure that Bamboo is picking up on failed tests
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
fromer a885ecf046 When merging MNPs, the phased flag and the phase quality (PQ) are determined simultaneously
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
hanna 861ee3e37a Changing testing framework from junit -> testng, for its enhanced configurability.
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
asivache fe3f78e1d3 make it full (absolute) path for the file names recorded in results.list
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
asivache 2ac5e55130 typo
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
asivache 0e6dd38936 In n-way-out mode, added printing names of all the output files into 'results.list' file
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
fromer 64599d1074 Added debugging message
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
fromer 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...
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
fromer 8439f0aa61 Check for VCFConstants.MISSING_VALUE_v4 when retrieving INFO fields and consider such values as non-existent
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
asivache 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).
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
depristo 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)
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
delangel 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:
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
hanna d492621122 The TraversalEngine's habit of hanging onto old ROD states seems to have a bad
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
ebanks 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.
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
ebanks 1b3fc8ddd2 Doing things too quickly is also naughty. Thanks, Andrey. Now, we're even.
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
ebanks 58f7b4c595 Naughty use of assertions means that malformed records are not caught.
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
delangel 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.
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
hanna 2f8057bf24 Cleanup for multithreading memory leak during integration tests...unregister MXBean at end
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
depristo 860de05a7c Bug fix for PL vs. GL in header. PL now truly default output for UGv2
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
depristo 9782dde3dd Bug fix for PL vs. GL in header. PL now truly default output for UGv2
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
ebanks fe3cfb067c very minor cleanup
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
depristo 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.
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
fromer 15183ed778 Reduced header to single sample when useSingleSample arg is given (to prevent lots of pointless no-calls)
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
fromer 34538bf2b3 Added ability to focus only on a single sample and/or emit only merged records in MNP merger
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
kshakir 5cdd7a7ba4 There's no such thing as a sam index, so the GATK extension generator doesn't need to add an @Input for them.
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
hanna 4c23b1fe9c Get rid of the static cache of ArgumentTypeDescriptors by making them an integral part of the
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
ebanks e112df20df Use a sorting VCF writer because records can flip positions during left-alignment
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
ebanks 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.
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
ebanks ec442086ec Minor refactoring of the cleaner allows me to add a trivial walker that left aligns the indels present in reads.
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
hanna 04e38929f0 Disabling parallelized version of VE integration tests. Still slow, but not
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
ebanks ffc0ed2b32 Renamed getName() to getSource() in VariantContext to be more accurate
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
ebanks 52fc023d80 Added convenience methods to check/get the ID of the VariantContext
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
fromer 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.
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
depristo e02aac0743 No longer print out 0 reads were filtered out... message when there were no reads scene at all
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
depristo 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.
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
kshakir 8211cee0b2 Queue UI Improvements:
- 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
ebanks 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.
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
ebanks 071799453c More complete fix to previous commit
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
ebanks 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.
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
ebanks 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.
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
fromer c357ec775a Trivially phases any hom site (since it is always correct to continue the previous haplotypes by appending the same allele onto both haplotypes)
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
rpoplin da64183854 Fix for the case of the truth VCF file having multiple SNPs at the same locus.
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
hanna 3039c0de3c Retire old ROD syntax.
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
depristo 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.
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
fromer f06f955e06 Added count of number of mergeable records (within specified distance cutoff)
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
depristo 84b6d2926b Useful walker that creates a new interval list with only the interval overlapping input sites list. Really a one-off walker
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
depristo 78b4a1c240 VariantsToTable now supports the virtual TRANSITION field
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
hanna e6d61197e6 Disable OTF indexing when writing indices for temporary VCFs when running
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
depristo e6b008f87c Fixed >= vs. > test leading to failure to tolerate dynamic indexes that are created at *exactly* the instant the output VCF is closed too
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
ebanks 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.
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
delangel 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.
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
ebanks c0b4317311 Er, here's the right fix
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
ebanks 181f901126 Fix for Ryan: don't pull reference sequence for the portions of reads that extend beyond the contig boundaries
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
ebanks 9f76aed515 Fix for IDs 5zP7jJeffK2sdPH1BH4JBVSrQztVEDKP and nX0cuBjoqBW4NQFpM6dE13KpkCuYFpZu
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
hanna d4feb99d9a For parallel ROD traversals, simplified reference sharding. Will replace
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
fromer 9ba7269728 Fixed Integration Tests to output VCF files with -NO_HEADER
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
fromer 60f88866dd Uses VCFConstants instead of hard-coded constants
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
fromer 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
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
fromer 1ea43be976 Removed flush() method from VCFWriter interface
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
chartl 3566ad2146 Wrong if statement.
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
chartl bf17f92b64 Do not look for samples in dbsnp binding
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
ebanks 225cf49128 Implementing reference confidence estimate in UGv2 as per UGv1
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
delangel cf9c9ae241 Three important updates for Dindel genotyper:
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
kshakir 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.
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
ebanks 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.
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
kshakir 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.
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
ebanks 91049269c2 Optimizations across the board, with help from Guillermo, Matt, and JProfiler. Too tired to give details now.
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
fromer 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
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
fromer e8079399ac Added flush() method to VCFWriters
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
fromer 00726b6c4b Added mergeIntoMNPs to merge successive VCF records into a single MNP VCF [if possible]
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
fromer 55230ce5f3 Added startsBefore, startsAfter, and minDistance [calculates distance between any pair of bases in the two GenomeLocs]
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
ebanks 4f77581087 More optimizations for HaplotypeScore: pulling final constants out of loops
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2010-10-20 17:40:57 +00:00
hanna 20fac43521 Add extra logging to the GATK run report at the start of metrics aggregation.
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2010-10-20 17:32:51 +00:00
ebanks 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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2010-10-20 03:32:21 +00:00
depristo 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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2010-10-20 02:47:34 +00:00
depristo f7ce18553e GenotypeConcordance now prints interesting sites more nicely. RMDTrackBuilder is now uses the root class FeatureSource not BasicFeatureSource.
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2010-10-20 00:29:02 +00:00
ebanks 7a291a8ff3 First pass at a VCF validator. Will test more tonight.
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2010-10-19 19:55:49 +00:00
chartl 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.
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...



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2010-10-19 12:50:24 +00:00
ebanks 5251f49a90 Including Marian Thieme's BaseCounts class (with some modifications)
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2010-10-19 03:07:30 +00:00
hanna c5f105d050 Fix boneheaded mistake in the new interval filtering code I added on Sunday.
Sorry everyone.


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2010-10-19 01:20:12 +00:00
ebanks 524cb8257c Renaming for accuracy
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
ebanks 0fe504b748 Use filtered depth for Exact model (just like grid search)
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
ebanks 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.
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
ebanks 80e5ac65b4 CAP_BASE_QUALITY needs to be included in the clone() method for it to be usable in UG
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2010-10-18 03:11:03 +00:00
hanna 6af9532090 Fix for GATK slowdowns at the ends of intervals.
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
chartl 5889138f4a *facepalm*
forgot to add the samples to the header. How could the VCFWriter let me get away with something so boneheaded?!



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2010-10-17 05:36:29 +00:00
chartl 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.
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
ebanks 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.
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
chartl 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 )
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
ebanks 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.
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
ebanks 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.
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
asivache 42c3d74432 bug fix
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
chartl c9d473edee More changes to Variant Eval and Genotype Concordance (passes all integration tests):
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
ebanks 954dd84f51 Adding an integration test (against hg18 this time) that requires on-the-fly sorting in order to work properly.
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
ebanks 9f54170dff Hooking up the liftover tool to the new on-the-fly sorting VCF writer so that records can now get emitted in order.
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
ebanks 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.
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
ebanks 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.
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
ebanks 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.
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
chartl 4ac636e288 Minor change: when tabulating concordance by AC, ignore sites with multiple segregating alleles in the population, at least for now
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
chartl 7c9ef59d65 This is simultaneously a minor and major change to VariantEval, so take heed:
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
hanna 83b8676b69 Hack to fix mysterious disappearing read attributes. Ultimately caused
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
depristo da29fcdb68 No longer writes the index to disk twice. But fixes for closing VCFWriters throughout the codebase
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
aaron 28a1020c89 comment out debugging line that was clogging the performance test output.
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
aaron 272ac2ae4a more fixes for tests broken by indexing-on-the-fly; I think this should do it.
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
hanna ed39af53cd Fix for exception when trying to load reference segment for a read that aligns
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
ebanks fe9f128631 Better fix for earlier bug.
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
aaron 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...
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
ebanks 69652e08c6 Bug fix for reads that completely fall within an insertion: the I cigar string element was 1 base too long.
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
kiran f348ca2976 Now processes VCF files with repeated loci without crashing.
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
ebanks fd8351cd49 Get rid of useless test/'optimization' that was carried over from UGv1. New codde is (minimally) faster with same results.
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
ebanks f28523e7de Implemented SB for UGv2.
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
hanna 7008a469dc Update MalformedReadFilter to pass reads that have cigar strings like 40S36I
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.


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2010-10-11 03:01:04 +00:00
ebanks 530875817f Experimental code for better filtering of bases in sam records. Not hooked up yet.
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2010-10-11 02:19:51 +00:00
ebanks a0de269c4b Better message
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2010-10-10 20:11:51 +00:00
rpoplin 0a4cf02a52 Fix for index out of bounds exception in VR.
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2010-10-10 17:35:15 +00:00
depristo 116309b3c3 More test cases for UG integration test. We currently fail doing multi-threaded gzip output, FYI
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2010-10-08 20:22:12 +00:00
depristo 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.
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
fromer bdd3a9752e Changed min MQ and BQ to 20 (for phasing)
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2010-10-08 19:27:45 +00:00
asivache 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
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
asivache 253d528e49 not ready for commit yet
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2010-10-08 15:30:55 +00:00
asivache 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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2010-10-08 15:30:26 +00:00
asivache cece19d4d2 not ready for commit yet
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2010-10-08 15:14:54 +00:00
asivache 39e373af6e deleting accidentally committed junk
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2010-10-08 15:13:01 +00:00
asivache b3d81984aa renaming MergingIterator to RODMergingIterator as it is more appropriate for this specialized implementation
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2010-10-08 14:10:11 +00:00
asivache 77dddd0afa renaming MergingIterator to RODMergingIterator as it is more appropriate for this specialized implementation
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
chartl 21ec44339d Somewhat major update. Changes:
- 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
ebanks 97b153f2fa Quick fix
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
ebanks 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.
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
delangel 3838823262 Two ugly hopefully temporary fixes for new genotyping model:
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
depristo 0a2e76e9dc 2nd step towards on the fly indexing. Also fixed parsing bug for headers with < symbols
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
rpoplin 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.
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
rpoplin 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.
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
fromer 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
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
ebanks 6205910f9f updating integration test for Sarah Calvo
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
fromer 652a3e8de5 Added integration tests for ReadBackedPhasing
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
fromer f8f1cc45a3 Now ReadBackedPhasing caps Base Quality by Mapping Quality
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
scalvo bda427f078 Change specification of AnnotationInputTable, and fix 2 bugs.
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
scalvo 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).
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
kshakir ca5db821ce Added the ability to Queue to run scala functions inside the JVM. NOTE: Extend from InProcessFunction instead of CommandLineFunction to use this functionality.
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
ebanks 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
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
depristo 00491fcd2e Only see not writing GATK Run Report if you are running with debug enabled
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
rpoplin 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.
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
ebanks 3d564f4a29 reverting an accidental change from the dindel merge
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
ebanks b5e148140b Officially fixed the UG priors; updated the default min MQ/BQs to pipeline values of q20 and min calling threshold to Q50
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
fromer 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]
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
hanna 250c18e679 Error message fixes for the following issues:
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
ebanks aa00801108 remove reference to -mrl
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4423 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 17:27:01 +00:00
chartl f978c25b9d Perhaps both, Eric. Perhaps both.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4422 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 13:56:04 +00:00
chartl 0eb777612a Swap "." over to VCFConstants.MISSING_DEPTH_v3
Why v3, you ask? Why not? Simply because v2 was a String so old and clunky, the sun would fizzle out and grow cold before any VCF could be successfully parsed.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4421 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 13:41:41 +00:00
chartl 74087c44ae Fixed a bug which caused a parsing exception when there was a variant with a dp field of ".", e.g. "GT:DP 0/1:." -- which can happen when using imputation.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4420 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 12:37:36 +00:00
ebanks 6448753cf7 Removed the SequenomValidationConvertor and renamed it VariantValidationAssessor since it no longer handles ped/sequenom files (but instead works on vcfs/variantcontexts). Updated all of the wiki docs, including adding instructions on how to convert ped files to vcf, a la Shaun Purcell. We now officially no longer support ped files everyone. Other misc cleanup in the code.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4419 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-04 02:11:38 +00:00
ebanks d8db48204e Fix typo and tell people not to post user errors
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4415 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-03 18:58:03 +00:00
ebanks 490e5e1b0f Better error when bad ref bases are provided
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4414 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-03 05:40:37 +00:00
aaron 64b7b3f83b fix for a recent change to the indexing code where we ignore the results of locking the file (this is bad), and as a result don't write the index; this should fix the build.
Off to Yosemite in 4 hours, enjoy the week gsa folks!



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4410 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-02 04:35:11 +00:00
depristo 7551ba8249 Trival refactoring in preparation for on-the-fly indexing
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4409 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 22:32:59 +00:00
rpoplin 2f7892601c Useful debugging argument added to VariantRecalibrator to only use sites whose qual field is above --qual
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4406 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 21:08:55 +00:00
hanna 575c38fc04 Accidental fail to commit missing file.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4405 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 20:26:51 +00:00
delangel d4398f2686 silly bug fix: if I'm to do a short term hack to avoid -infinity likelihoods I might as well do it right.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4403 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 18:39:45 +00:00
hanna 8d25a5f9f2 A mechanism for supplying attribution text -- mainly useful for external
walkers.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4402 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 18:31:19 +00:00
delangel e920badcc4 Temporary fix for case where genotype likelihoods are exactly (1,0,0) or (0,1,0) etc. at a site with new indel genotyper: this would make us blow up when converting to log space and try to assign genotypes at a site. A more robust solution is in the works.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4401 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 17:43:43 +00:00
rpoplin b83fdf8a17 Bug fix in AnalyzeAnnotations. Be sure the site is a biallelic, unfiltered SNP.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4400 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 13:09:46 +00:00
delangel fa9c21c020 More fixes for exact AF calculation model in new unified genotyper:
a) Fixed bugs in new dynamic programming-based genotyper
b) Fixed up temp hack that handles extended pileups for now.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4398 348d0f76-0448-11de-a6fe-93d51630548a
2010-10-01 02:32:50 +00:00
delangel eb67aee732 bug fix: forgot to uncomment code to compute genotype likelihoods
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4397 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 21:38:22 +00:00
delangel ece694d0af Next iteration on new UG framework:
- Brought over exact AF estimation from branch (which is now dead). Exact model is default in UnifiedGenotyperV2.
- Implemented completely new genotyping algorithm given best AF estimate using dynamic programming, which in theory should be better than both greedy search and any HWE-based genotyper.
- Integrated and added new Dindel likelihood estimation model.
- Corrected annotators that would call readBasePileup: since we can be annotating extended events, best way is to interrogate context for kind of pileup and either readBasePileup or readExtendedEventPileup.

All changes above except last one are still in playground since they require more testing.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4396 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 21:33:59 +00:00
hanna 4ea73bcfb1 Basic unit tests for WalkerManager.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4394 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 19:27:41 +00:00
hanna bf7fd08810 Fix newly-introduced bug in the PluginManager/DynamicClassResolutionException
where, when the system can't find a plugin of the correct name, the system
prefers to crap all over itself and throw an unintelligible NullPointerException
rather than displaying an intelligent error.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4393 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 19:07:05 +00:00
hanna 14e19f4605 (Slightly) better exception text when SAM/BAM output file can't be created.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4392 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 18:43:22 +00:00
hanna 1fb8c86f6d Looks like we've got two competing models for an empty interval list: null and
the empty list.  Score another victory for the integration tests.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4391 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 17:11:47 +00:00
hanna 78343be52c At some time in the recent past, we lost our ability to process the '-L all'
argument.  Brought it back, and added an integrationtest to make sure it
stays around.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4390 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-30 15:58:43 +00:00
delangel e80742e72f Use -o as argument for output file in ProduceBeagleInputWalker, to be consistent with other walkers (you're welcome, chartl :)).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4386 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 22:46:39 +00:00
hanna 732aa32758 Every Sting app from now on will be forced into the US English locale.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4385 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 21:55:21 +00:00
fromer 20ffe484bc Added detection and INFO field marking of phasing inconsistencies (and optional filtration using --filterInconsistentSites)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4384 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 19:28:56 +00:00
rpoplin a6c7de95c8 By using the AC info field instead of parsing the genotypes we cut 78% off the runtime of VariantRecalibrator. There is a new argument to force the parsing of genotypes if necessary. Various other optimizations throughout.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4383 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 18:56:50 +00:00
ebanks 2d1265771f Fix for G: make sure to generate the genotype conformations in the grid for the target frequency when not using grid search for anything except the conformations
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4382 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 16:44:53 +00:00
delangel 4556e3b273 First iteration in filling up exact AF calculation with new refactored UG. Code computes EM iterations of exact AF spectrum and returns to caller.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4381 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 16:21:54 +00:00
ebanks 0d71dff928 Small bug fix to the new UG (need to initialize the entire posteriors array) means that we also get identical results as old UG when calling with 60 samples in the pilot1 data. Now that I'm happier with UGv2, I've transitioned it to use the correct AF priors instead of the busted ones still in the old UG.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4379 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 14:24:50 +00:00
hanna eee134baf2 Chris found a bug in the downsampler where, if the number of reads entering
the pileup at the next alignment start is large, we don't add as many of those
incoming reads as we should.  No integration tests were affected.

Thanks, Chris!


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4378 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 11:18:12 +00:00
ebanks 0ec07ad99a Initial version of refactored Unified Genotyper. Using SNP genotype likelihoods and GRID_SEARCH AF estimation models, achieves the exact same results as original UG on 1-2 samples with the exception of strand bias (not implemented yet); other than that I have no idea. Needs tons more testing. Do not use. For Guillermo only.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4377 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 08:42:25 +00:00
kshakir 6df7f9318f For enums generate the full path to the Enum type to avoid collisions such as enum Model and enum Model used in the same class.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4376 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 05:28:59 +00:00
fromer e322e71c2f Restored SVN history for phasing
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4373 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-29 00:02:02 +00:00
fromer 720aaca8a0 Trying to restore SVN history for phasing
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4372 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-28 23:50:28 +00:00
fromer bf88117ead Trying to restore SVN history for phasing directory
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4371 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-28 23:48:24 +00:00
fromer dfb5143a41 Restore folder
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4370 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-28 23:46:07 +00:00
fromer 7c909bef82 Moved phasing classes out of playground! The code is still under production, though...
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4369 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-28 23:21:28 +00:00
fromer 8d8980e8eb Fixed phasing algorithm to: 1. More correctly weed out irrelevant reads and sites; 2. Crudely flag sites with large phase discrepancies betweens reads
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4368 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-28 23:02:53 +00:00
chartl 5a5c72c80d Accidentally commited some debug output to PackageUtils, reverting change.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4367 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-28 21:58:42 +00:00
chartl 862c94c8ce Small change for Matt -- output partition types in lexicographic order.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4365 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-28 20:08:03 +00:00
ebanks 7ad87d328d Make sure to uppercase ref bases since they aren't coming from the engine
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2010-09-28 19:05:46 +00:00
bthomas 96cccafb0d Adding a few helper methods for accessing sample metadata, and associated unit tests. These are motivated by discussion with Ryan about how he'll use sample metadata in VariantEvalwalker - hopefully will make it easier for him. Methods are:
-- getToolkit().subContextFromSampleProperty(): filters a VariantContext to genotypes that come from samples that have a given property value
-- getToolkit().getSamplesWithProperty(): gets all samples with a given property
-- getToolkit().getSamplesFromVariantContext(): sample objects that are referenced by name in a VariantContext



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2010-09-28 02:16:25 +00:00
ebanks 1034853a84 Adding 'solexa' to list of known/supported platforms
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2010-09-27 02:38:38 +00:00
aaron 70f03a7113 first pass of well-formatted tribble exceptions
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2010-09-25 03:29:33 +00:00
kshakir edaa278edd Removed cases where various toolkit functions were accessing GenomeAnalysisEngine.instance.
This will allow other programs like Queue to reuse the functionality.

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2010-09-25 02:49:30 +00:00
hanna 497bcbcbb7 Recent changes to the build system make the build system complain loudly about
pieces of core that depend on playground.  Most of these have been eliminated by
(temporarily) promoting Aaron's report system to core in this checkin.  I'll 
follow up with other changes in separately.


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2010-09-24 22:09:12 +00:00
hanna 6ebca5d219 Enhancements to build external projects for walker sharing.
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2010-09-24 21:17:16 +00:00
corin eb1fa4bff3 changes an argument to an output so I can use it to track dependencies in queue
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2010-09-24 21:07:09 +00:00
depristo 745b8cc6d3 GATK now detects and UserExceptions when human lexicographically sorted data is provided
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2010-09-24 15:19:48 +00:00
rpoplin 1931b2e1bd Three fixes for VariantFiltrationWalker: Trying to filter an empty VCF file will produce a well-formed VCF file with zero records instead of a blank file, needed for pipelines. The first record's genotype info fields are now in the same order as all the others. The VCF header lines are pulled from just the input variant rod instead of from all rods.
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2010-09-24 13:52:56 +00:00
kshakir 4ed9f437e9 Sliced the GAE in half like a gordian knot to avoid the constant merge conflicts.
The GAE half has all the walker specific code.  The new "Abstract" GAE has the rest of the logic.
More refactoring to come, with the end goal of having a tool that other java analysis programs (Queue, etc.) can use to read in genomic data.

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2010-09-23 23:28:55 +00:00
rpoplin 0c9fabb06f Fix in AnalyzeAnnotations, somebody changed it look for ID in the vc's info field. This dinosaur desperately needs integration tests.
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2010-09-23 19:48:44 +00:00
hanna 0c781968fb Tried to do a bit of pre-commit refactoring and screwed it up. Fixed.
Thanks to Ryan for identifying the problem.


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2010-09-23 18:17:29 +00:00
depristo d081b9b352 Improvements to error messages about @Requires and @Allows
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2010-09-23 12:08:27 +00:00
hanna 7841b301c4 Added more diagnostics so that I have some idea of what a 'general' exception
is.  Required to fix bug ZjhCJAdwhtFq1x54ZlmlN8pFNcbrRpdJ and similar.  We
might want to change this particular case to a ReviewedStingException after
we gain a bit more experience with it.


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2010-09-22 21:32:01 +00:00
fromer 44ccfc3531 Updated Phasing algorithm + evaluation module to properly implement haplotypes [including homozygous genotypes]; Implemented dynamic window phasing model for LARGE increase in efficiency
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2010-09-22 21:29:58 +00:00
hanna 8f75d88519 Fix for GATK run report ids:
mOVsxGfDiiSMxVs2PPTVjzYTVbizlD6e
  f9kUHUADFsZ0LiTGxRL5zPmq9kZcA4cQ
  8eGHWJFAlBVmgxwPi3sMd1RmiN2PwHOf
  iLhvHWveypKb2F8vKS5irHylc3pYvlOb
  HDttXKUMEVoPrvVeWrH7E0htxYyNydMx
plus a bit of cleanup of custom exceptions in the sharding system.


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2010-09-22 19:49:25 +00:00
kshakir 20b38b38f3 Updated from SnakeYAML 1.6 to 1.7.
Added a pipeline java bean and YAML utility to serialize java beans.
Added a getFirehosePipelineYaml.sh that can pull firehose data into the pipeline yaml file format.
Updated the fullCallingPipeline.q to begin using the pipeline yaml file format for bams and reference.
More changes to come as this code gets tested out in the fullCallingPipeline.

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2010-09-22 19:47:49 +00:00
hanna fb5d595ef0 Disable VCF header output in the Beagle integrationtest.
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2010-09-22 16:50:03 +00:00
hanna 0c99c97685 The engine now automatically adds the command-line arguments to the header of every VCF, unless -NO_HEADER is specified.
Changed integration tests, adding the -NO_HEADER argument, for walkers that previously did not include the command-line
arg headers.


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2010-09-22 15:27:58 +00:00
aaron 1af9ca6d45 enabling tests that now pass with the conitg length validation.
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2010-09-21 22:20:50 +00:00
depristo 522830fb01 Support for --assume-single-sample in UG, better malformated bam exceptions, and ignoring out of order contigs in seqdictutils. All for the CG bam file
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2010-09-21 20:33:34 +00:00
aaron 3938d53738 one broken build short of the hat trick. Fixing the unix test which expects the sequence dictionary of the Tribble track to equal the reference; we actually return the sequence dictionary of the track iself, with each contig set to the length of the sequence dictionary contig entry.
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2010-09-21 18:47:20 +00:00
aaron b968af5db5 The tribble indexes are now updated with correct sequence lengths for each contig they have in their sequence dictionary. Also clean-up in the RMD track builder.
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2010-09-21 18:21:22 +00:00
aaron 2586f0a1ca fix for the build I broke - the original file got corrupted, which I replaced with a version that didn't have the header stripped off. Other integration tests passed, but this test relied on the header being stripped off.
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2010-09-21 15:35:25 +00:00
rpoplin 547763b230 Better error message for Petr's null pointer exception. Also added an exception integration test because I'm certain this used to work.
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2010-09-21 13:44:40 +00:00
depristo 8719dde59d Now prints out PASS when a variant is unfiltered
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2010-09-21 13:16:41 +00:00
delangel 205fc0b636 Cleanup: Use Tribble's version of createVariantContextWithPaddedAlleles (no real functional difference) to avoid duplicated code.
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2010-09-20 19:53:30 +00:00
delangel a10cfe213b Small bug fix in simple indel genotyper: Likelihood of case where best haplotype pair was (REF,REF) was not computed correctly.
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2010-09-20 17:04:39 +00:00
ebanks f5a30d0248 I just spoke to Andrey & Kiran (the original authors of these tools), and they voted to kill these in favor of Picard
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2010-09-20 13:27:35 +00:00
delangel f64b6fddc1 Major changes/improvements to indel genotyper:
a) Redid way to compute path metrics in indel error model. Paper formulation where we have an anchor point in the alignemt between read and haplotype won't work in practice except in nice data sets that are perfectly indel-realigned and that are well mapped by aligner. New formulation doesn't assume this, and it's actually simpler and uses less code. It now resembles more a classic SW dynamic programming formulation but it still preserves the HMM probabilistic formulation. 
b) Added a programmable call threshold, set by command line.
c) Use now sample name from BAM file, remove -sampleName argument.
d) Simplify loop to compute read-haplotype likelihoods.



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2010-09-19 23:47:31 +00:00
rpoplin c6351a11d6 Clearer logger output when not using by-hapmap
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2010-09-18 16:10:42 +00:00
rpoplin 7e58d8ed61 CombineVariants now outputs the command line in the VCF header. Added a new hidden argument to VR walkers called --NoByHapMapValidationStatus to turn off the by-hapmap dbsnp rod behavior. Very useful for experimenting with which sets to use as training data.
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2010-09-18 16:06:50 +00:00
kshakir a3f31e5df0 When QScript writers use the RodBind, then the File version of the same argument should be optional, i.e. should not always try to output the file, which when unpopulated will be null.
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2010-09-17 18:22:07 +00:00
bthomas c6c6d32b46 Quickly adding a new convenience method for retreiving a group of samples. The method is getSamples(Collection<String>) and returns a set of sample objects. There's also a test there.
Ryan is using this to modify VCF code today...



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2010-09-17 15:55:17 +00:00
kshakir a898908918 The output BAM file optional arguments of compression and whether to write an index are not outputs themselves.
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2010-09-17 15:35:54 +00:00
bthomas bc12055fcf Quick patch to fix the sample code. It wasn't actually initializing the sample data source, so I added a call to initializeSampleDataSource() in GenomeAnalysisEngine. I think there was just an error resolving the versions of GenomeAnalysisEngine
Also added a new error message that I thought would be helpful...



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2010-09-17 14:05:26 +00:00
ebanks a10b2a00a5 Moving the util VariantContext 'modifying' routines into VC itself (as opposed to VCUtils) so that we can pass the genotype data directly into it and are no longer forced to decode the genotypes for no reason. This means that any walker that takes in a VCF and modifies the records without touching the genotypes never have to decode them. I've hooked this into the other two Variant Recalibrator walkers for Ryan. One side effect, though, is that we no longer can sort the sample names in the VCF (i.e. if the input VCF doesn't have samples in alphabetical order, then we used to sort them when writing a new VCF but no longer do that), because if we don't decode then we can't re-order the genotypes. I don't think this is a big concern given that the Unified Genotyper does emit sorted samples and that's the main source for most of the VCFs we use.
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2010-09-17 07:09:58 +00:00
bthomas f66ef4626e Fixing two minor issues: 1) adding a new error message if the user adds a fasta file in a directory that doesn't exist; 2) renaming my sample unit tests so they actually run.
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2010-09-16 20:45:51 +00:00
rpoplin 3a400e3dc0 Added CountCovariates integration test to ensure that it throws an exception if a variant mask isn't provided.
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2010-09-16 19:18:38 +00:00
rpoplin 2eb5d9b2d2 CountCovariates makes sure that it sees a rod type that it expects for use as a variant mask (accepted types are dbsnp, vcf, and bed)
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2010-09-16 18:53:42 +00:00
aaron de56568ce4 Adding the appropriate DbSNP file to the performance tests so they don't exception out.
The exception: "org.broadinstitute.sting.utils.exceptions.UserException$CommandLineException: Invalid command line: This calculation is critically dependent on being able to skip over known variant sites. Please provide a dbSNP ROD or a VCF file containing known sites of genetic variation."


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2010-09-16 16:30:54 +00:00
aaron 782e0018e4 removal of most of the old GATK ROD system; also a fix for -Dsingle so we can again run just a single unit or integration test (single tests in tribble can be run with the -DsingleTest option now). More to come.
*** Three integration tests had to change: ***

RecalibarationWalkersIntegrationTest:
One of the tests was using the interval as the snp track, and wasn't supplying a DbSNP track (for CountCovariates)

SequenomValidationConverterIntegrationTest:
relies on Plink ROD which we've removed.  

PileupWalkerIntegrationTest: 
we no longer have implicit interval tracks, so there isn't a rod name over the specified region.  Otherwise the same result.

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2010-09-15 22:54:49 +00:00
delangel c604ed9440 Several improvements to new indel genotyper (more to come soon):
a) Turns out previous change of centering haplotype around indel was a bad idea. Context to the left of indel is important but not as important as right one, because by definition all alleles start at the same location, so haplotype is the same to the left of indel regardless of allele. So, go back to having a constant size window to the left of event.
b) Expand reference context so we can test larger haplotypes.
c) Optimize computation of read likelihoods by doing them in linear array instead of in a matrix - no difference in biallelic sites but could be significantly faster in multiallelic sites.
d) Bug fix: read alignment wasn't being computed correctly if, a) we were at an insertion, b) read started right at the insertion, c) read CIGAR didn't include insertion - more of these corner conditions are lurking, so a revamped computation of how reads align to candidate haplotypes is in the works.
e) Add debug option not to use prior haplotype likelihoods.
f) Don't hard-code NA12878 for genotyping, now sample name is a required input argument.
g) Bug fix: if there are no reads covering a candidate indel event, just output NO_CALL (didn't notice this in HiSeq, but in P1 data it happens all the time). I need to add a confidence threshold for calling later on.






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2010-09-15 21:53:08 +00:00
depristo fb6d7d19f9 Better window size error message
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2010-09-15 20:40:56 +00:00
rpoplin b5d2e299d2 Make it more clear what is going on with the by-hapmap validation status in the dbSNP rod
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2010-09-15 17:29:31 +00:00
rpoplin 0a06fbdb94 Adding header lines to output of VR walkers to settle validator warnings. Command lines are added to the VCF header. GATK version numbers will be added to the header lines by Matt.
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2010-09-15 16:45:03 +00:00
depristo 41fa323e63 Added iterator for tribble, fixing GS bug report. Removed unnecessary tabix double wrapping. Intergation tests to ensure the BTI works with both vcfs and vcf.gz
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2010-09-15 16:38:04 +00:00
asivache d7b5baf8e5 Now uses tagging of -I arguments. Multiple -I options (merging) is now allowed. In somatic mode 'tumor' and 'normal' tags are required for each input bam, the order does not matter anymore (since we use tags!)
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2010-09-15 13:58:51 +00:00
bthomas e5f81d25d4 Adding the --sample-metadata (-SM) command line argument and associated functionality. This is something Matt and I have been working on for a while. Basically, it allows you to integrate sample metadata into an analysis, by including a sample file. More detailed documentation is on the wiki: http://www.broadinstitute.org/gsa/wiki/index.php/Adding_Sample_data_to_an_analysis
This commit adds two important classes: Sample, which contains data about one sample; and SampleDataSource, which manages sample data a la ReferenceDataSource and ReadsDataSource. 

This code should be stable, but it has not been integrated with existing walkers yet. That's the next commit. 

In the meantime, feel free to experiment with the code - there are two basic example walkers in the playground.sample package. And PLEASE let me know if you see any errors/inconsistencies.

Note that this also adds a new dependency on SnakeYaml, a YAML parser.



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2010-09-15 11:50:22 +00:00
ebanks dd23f204ab Making the UG args that allow users to proceed with insufficient bam headers (no SM or PL tags) @Hidden; removed them from wiki.
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2010-09-15 01:54:50 +00:00
ebanks 514b28210e Have VF write to sdout when no -o is supplied
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2010-09-15 01:48:33 +00:00
ebanks 1901e3208e Oops, ran integration tests before Guillermo committed his change to the Beagle code
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2010-09-15 01:41:02 +00:00
ebanks 4e83ba411f We now do lazy loading for the genotype data in VCF. Practically, almost all walkers end of loading the genotype data because we need to be smarter about transfering the unparsed genotype string when modifying VariantContexts; however, this does solve the problem for VR's piece to generate clusters (shaved off 75% of runtime for Ryan's large case). That further optimization will happen later.
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2010-09-15 00:18:17 +00:00
depristo 74d4f124b1 Bug fixes to allow us to generate GATKRunReports for very early errors that leave the engine in a corrupt state. Vastly better error handling of common command line problems. Analysis output now notes whether an exception is a a UserException or a StingException
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2010-09-14 22:45:15 +00:00
delangel 2be5e862f1 forgot to commit change to MD5
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2010-09-14 19:28:03 +00:00
delangel 6d07181dc9 When processing Beagle output and creating new vcf, output the filtered records in the original input vcf as is, so that we don't lose the information on them when we run Beagle.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4276 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-14 19:18:45 +00:00
hanna 7fa6b2135b Added a back door so that integration tests can reset the sequence dictionary
in the reference.  Reset routine is not accessible to any class outside
GenomeLocParser's package.

We'll have to do something more intelligent with this when the GATK goes
distributed.


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2010-09-14 18:58:08 +00:00
depristo dbb641280e CycleCovariate now tolerates SOLEXA as machine type. Also, exception handling is now written to stderr.
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2010-09-14 12:35:57 +00:00
ebanks 71d2d69b41 Better error message
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2010-09-14 05:04:26 +00:00
fromer 248cc308b2 ReadBackedPhasing silently ignores sites with ploidy != 2
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2010-09-13 21:14:17 +00:00
fromer 528f6344af Moved ReadBackedPhasingWalker to phasing sub-directory
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2010-09-13 19:36:41 +00:00
depristo fa3be2209f Improvements to the error display code to print out the SVN number in all messages. Fixes to CallableLoci and tests to check for that case
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2010-09-13 18:36:45 +00:00
depristo 4d0ff336c2 Missed update input
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2010-09-12 15:46:13 +00:00
depristo 7880863eb7 Final step in error refactoring. GATK exception is now ReviewedStingException, indicating that this exception is really what one wants. Only use this exception when you have thought about StingException vs. UserException and made a real decision.
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2010-09-12 15:07:38 +00:00
depristo 7ad8fbdd5a Moved GATKException to exceptions
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2010-09-12 14:47:19 +00:00
depristo 1876c9856a Moved stingexception
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2010-09-12 14:39:22 +00:00
depristo bccebf8899 Newly placed StingException
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2010-09-12 14:38:46 +00:00
depristo 3964e02fb6 Newly placed StingException
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2010-09-12 14:38:32 +00:00
depristo 595907e98e Moving StingException
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2010-09-12 14:34:15 +00:00
depristo 40e6179911 Penultimate step in exception system overhaul. UserError is now UserException. This class should be used for all communication with the USER for problems with their inputs. Engine now validates sequence dictionaries for compatibility, detecting not only lack of overlap but now inconsistent headers (b36 ref with v37 BAM, for example) as well as ref / bam order inconsistency. New -U option to allow users to tolerate dangerous seq dict issues. WalkerTest system now supports testing for exceptions (see email and wiki for docs). Tests for vcf and bam vs. ref incompatibility. Waiting on Tribble seq dict improvements to detect b36 VCF with b37 ref (currently cannot tell this is wrong.
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2010-09-12 14:02:43 +00:00
delangel da2e879bbc Miscellaneous improvements to indel genotyper:
- Add a simple calculation model for Pr(R|H) that doesn't rely on Dindel's HMM model. MUCH faster, at a cost of slightly worse performance since we're more sensitive to bad reads coming from sequencing artifacts (add -simple to command line to activate).
- Add debug option to calculation model so that we can optionally output useful info on current read being evaluated. (add -debugout to commandline).
- Small performance improvement: instead of evaluating haplotype to the right of indel (just with a 5 base addition to the left), it seems better to center the indel and to add context evenly around event.




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2010-09-12 13:50:28 +00:00
ebanks 61d511f601 Small memory performance improvement: remove the mapping from the hash instead of setting the value to null (i.e. remove the key too)
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2010-09-12 05:19:09 +00:00
ebanks a0231f073f Damnit. Enabling the Picard code to recalculate all of the relevant SAMRecord attribute tags means that I need to have reference bases over all read bases even after realignment (and there are some big indels in dbsnp). Fortunately, I have my trusty IndexedFastaSequenceFile reader handy! Re-enabling the previously broken performance test.
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2010-09-12 05:06:37 +00:00
hanna 87aca64716 Jumped the gun a bit on bam on-the-fly indexing -- Tim says it's not ready yet.
Turned it off by default and added a property to turn it back on.


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2010-09-10 21:16:03 +00:00
rpoplin 7b113a4886 Truncate the floating point numbers coming out of the variant recalibration walkers. Integration tests now work with both 1.6.0_16-b01 and 1.6.0_21-b06
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2010-09-10 18:37:49 +00:00
depristo 8f1a32acae All exceptions thrown by the GATK have been reviewed and UserErrors replaced where appropriate. Shazam. Another check-in will remove the GATKException and restore the StingException.
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2010-09-10 15:25:30 +00:00
aaron cf33614ddc remove the test that's failing the performance tests, please don't release until this is figured out
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2010-09-10 06:30:40 +00:00
aaron 4adb07683d all fixed..thanks Matt!
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2010-09-10 06:18:59 +00:00
aaron bd4bc84abd comment out the broken aligner test again - I'll take a crack at fixing it tomorrow. Each software engineer is going to take a pass at fixing it, and we'll see who can do it with the most style.
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2010-09-10 05:22:24 +00:00
rpoplin 61e848c4f0 It's clear from Sendu's calling and my own calling that -qScale 100.0 is a much better default value for low pass data.
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2010-09-10 01:47:21 +00:00
hanna e183b6598c - Fix our private repository of bwa reference support files.
- Update the test to point to our repository.
- Update the md5 to reflect new Picard tag ordering.


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2010-09-10 00:29:26 +00:00
depristo 1de713f354 Massive review of maybe 50% of the exceptions in the GATK. GATKException is a tmp. tracker so that I can tell which StingExceptions I've reviewed. Please don't use it. If you are working on new code and are considering throwing exceptions, it's either UserError or StingException, please
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2010-09-09 23:21:17 +00:00
kshakir 4183e8805a Fixed reference (via busted symlink) /broad/1KG
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2010-09-09 20:34:51 +00:00
aaron f5c295b6b2 add a little bit of documentation to the RMD track builder and wrap any exceptions thrown in tribble with the file source and line that caused the error.
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2010-09-09 17:56:36 +00:00
rpoplin aeb897db7f VR walkers look at by-hapmap validation status by default. Eric will be updating the syntax to allow for more flexibility here.
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2010-09-09 15:40:56 +00:00
kshakir d7f55574e2 Re-enabling aligner integration test now that we're back to having more than 1 or 2GB memory.
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2010-09-09 15:09:48 +00:00
rpoplin d625186796 I think the VR integration tests are fine.
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2010-09-09 15:00:41 +00:00
depristo 6a30617a60 Initial implementation of UserError exceptions and error message overhaul. UserErrors and their subclasses UserError.MalFormedBam for example should be used when the GATK detects errors on part of the user. The output for errors is now much clearer and hopefully will reduce GS posts. Please start using UserError and its subclasses in your code. I've replace some, but not all, of the StingExceptions in the GATK with UserError where appropriate.
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2010-09-09 11:32:20 +00:00
depristo ca9c7389ee Not useful
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2010-09-09 02:33:03 +00:00
depristo 8708753a6a checkin for removal
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2010-09-09 02:32:46 +00:00
hanna 5119bdb55e - Update DoC to support output to /dev/null.
- Add a release sanity check for DoC.
- Update release sanity checks with new command-line argument system.


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2010-09-08 23:43:18 +00:00
fromer 1b1ec7e52d Changed default phasing window size to 10
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2010-09-08 21:28:36 +00:00
fromer ce031b2f05 PhasingEvaluator prints out interesting sites (only 1 phased, or phases disagree)
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2010-09-08 18:21:21 +00:00
ebanks 40283f6456 Success! TranscriptToGenomicInfo now works without the delicate hacks that Ben had put in.
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2010-09-08 18:06:00 +00:00
ebanks cd091d7309 This walker can NOT be tree-reducible (in its current state). Given that it's meant to be run just once for any given transcript set, this is not at all a problem.
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2010-09-08 16:47:51 +00:00
ebanks ae9cba1c73 After an epic battle with this code until 3am last night, I have discovered that it is tragically and fatally busted. Ben clearly didn't understand how the ROD system works when writing it and so it is unusable in its current state. I've ripped out all code and it now gracefully exits telling the user that we are actively working on a replacement for this tool. Sigh.
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2010-09-08 16:39:41 +00:00
ebanks 29f7b1e6d6 Trivial update
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2010-09-08 14:02:38 +00:00
ebanks cd2bfb09ef Change for Tim: invalidate the MD tag (temporarily) if it exists in a read that gets realigned
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2010-09-08 13:59:09 +00:00
ebanks 65edbced36 Addition for Tim: recalculate the NM and UQ tags after realignment. Also, don't fix the insert size calculation, since that's done by fix mate information.
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2010-09-08 04:02:14 +00:00
chartl 71046e650e Added a more robust check for Jishu -- am pretty sure the .bam header is busticated
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2010-09-08 01:11:22 +00:00
fromer ae3f7026a4 Corrected phasing quality evaluation to correctly account for hom sites that break phase
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2010-09-07 22:43:54 +00:00
hanna 501f6a0e14 Temporary hack to disable index creation when target BAM is /dev/null. Tim
promises me that Picard will put in a real solution next week.


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2010-09-07 16:57:51 +00:00
fromer 754c2c761e Added minimum phasing quality for phasing evaluation
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2010-09-07 14:29:11 +00:00
ebanks 5d0d9c7dce My parallel version of TranscriptToInfo now emits 'chr start end' instead of 'chr:start-end' for records so that 1) they can be easily sorted in coordinate order (allowing me to emit records out of order if I choose) and 2) the file can be tabix indexed (when we stop finding 'critical' bugs in that code).
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2010-09-07 05:20:40 +00:00
ebanks 4d4ef5b42c In the end, it's not worth rewriting TranscriptToInfo from scratch. I'm keeping the old one around for a bit so I can play with this new version which 1. doesn't store the records in memory so can be run in under 1Gb of memory, 2. actually emits all of the records (the original fails in some cases), and 3. is refactored to cut out ~20% of the code.
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2010-09-06 02:37:34 +00:00
kiran 0dd5a0990d Now annotates sites marked as filtered out (this is important if sites are in a lower-quality tranche).
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2010-09-04 00:36:55 +00:00
delangel ef7454a241 Minor improvements to indel genotyper:
a) Ability to specify haplotype size from command line
b) Expand reference context  window so we can form haplotypes for longer indel events.
c) small bug fix in temp output writer (to be removed once I can emit vcfs)



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2010-09-03 22:52:08 +00:00
depristo 7eeabe534a QSample walker for 1KG -- measures aggregate quality of sequencing. Includes misc. improvements throughtout the code, including using the new Tribble GenotypeLikelihoods class for working with VCF GLs from the UG
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2010-09-03 18:21:43 +00:00
rpoplin e3962c0d13 VR integration tests are longer but much more useful.
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2010-09-03 15:50:19 +00:00
hanna da11efa1a2 Automatically write BAM file indices for coordinate-sorted BAMs.
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2010-09-03 14:10:44 +00:00
fromer 529eecd4dc Added phasing sub-directory to keep walkers directory clean
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2010-09-03 13:38:46 +00:00
fromer c0ce9ca8cc Added phasing sub-directory to keep walkers directory clean
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2010-09-03 13:32:30 +00:00
rpoplin 60003aeaca Bug fix in VariantRecalibrator. Only add sample names from the input rod bindings, not from all rod bindings.
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2010-09-03 13:31:49 +00:00
fromer c119f64514 Added phasing sub-directory to keep walkers directory clean
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2010-09-03 13:24:18 +00:00
depristo 3c9597d45a OnTraversalDone writes output to out now
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2010-09-03 12:55:03 +00:00
depristo 73d41bfa24 CountLoci nows writes out to a file for Queue status tracking. VariantAnnotatorEngine has a special group None that doesn't add any annotations; useful for those who are testing UG performance
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2010-09-03 12:52:33 +00:00
ebanks b59d62927e Fix busted performance test (-outputBam has been deprecated in the BQ recalibrator in favor of -o)
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2010-09-03 12:51:53 +00:00
hanna 70bb480939 The battle is over. Picard is revved.
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2010-09-03 05:28:01 +00:00
ebanks fdaac4aa78 As the VCF guru, I'll take this one for Andrey. Someone has actually found a deletion at the beginning of the chromosome. Instead of failing with an ArrayIndexOutOfBoundsException, just don't try to print out the record. Our VCF writer doesn't really support this case (yet).
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2010-09-03 03:27:43 +00:00
ebanks c45ffcdaed Changing documentation (temporarily) to warn people that -U is not supported.
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2010-09-03 03:18:07 +00:00
delangel 8a7f5aba4b First more or less sort of functional framework for statistical Indel error caller. Current implementation computes Pr(read|haplotype) based on Dindel's error model. A simple walker that takes an existing vcf, generates haplotypes around calls and computes genotype likelihoods is used to test this as first example. No attempt yet to use prior information on indel AF, nor to use multi-sample caller abilities.
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2010-09-03 00:25:34 +00:00
fromer a1cf3398a5 Added basic version of phasing evaluation: GenotypePhasingEvaluator
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2010-09-02 22:09:50 +00:00
kshakir fd5970fdd4 At chartl's superb suggestion, command line files are now all Files instead of old method of sometimes "has a File". Should be easier when reassigning them.
No longer generating deprecated GATK arguments on the Queue extensions.
Emitting deprecation warnings to Queue compile to help debugging issues.



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2010-09-02 21:30:48 +00:00
rpoplin 0bb05fb472 Bug fix in VariantRecalibrator. Only add sample names from the input rod bindings, not from all rod bindings.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4194 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-02 21:12:09 +00:00
chartl 3a4844ebde Additional partition types into DepthOfCoverage:
- Sequencing Center
- Platform
- Sample by Center
- Sample by Platform
- Sample by Platform by Center <---- needed for analysis I'm doing

The fact that the latter three needed their own partition types, rather than being dictatable from the command line, combined with the new hierarchical traversal types, and new output formatting engine, suggest that DepthOfCoverageV3 is about ready to be retired in favor of a newer, sleeker version.

For now, this will do.
 


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2010-09-02 19:30:03 +00:00
chartl 590bb50d16 Test for missing read group
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4192 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-02 14:22:13 +00:00
kiran acd6bd2430 Experimental tool to annotates indels that are provided in a VCF file based on RefGene. Specifies gene, transcript, strand, type (Non-frameshift, frameshift, 5'-UTR, 3'-UTR, SpliceSiteDisruption, Intron, or Unknown).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4191 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 23:30:28 +00:00
hanna dc5f858d29 Replaced placeholder support for splitting by read group with read support (sorry everyone), and added relatively comprehensive unit tests to ensure that splitting by read group works.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4190 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 22:24:50 +00:00
rpoplin b28f63a948 Base recalibrator now uses -o and deprecates -outputBam
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4189 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 22:13:50 +00:00
kshakir 33400074fa Updated tribble BED parsing code to use the official UCSC spec, and updated tests to match expected results.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4188 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 21:49:06 +00:00
depristo 995cfe34fe You can have an error so early that some engine fields are uninitialized. Commit protects RunReport from these errors
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4185 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 19:00:25 +00:00
rpoplin a975db2c2e Bug fix for the case of reads with no read bases!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4184 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 16:58:54 +00:00
rpoplin 469bbaa240 Added more integration tests for the variant quality score recalibrator
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4181 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 15:31:24 +00:00
depristo 8c4009ee18 Oops, don't enable reporting in integration tests
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4179 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 22:56:18 +00:00
rpoplin 5b94c926c8 More precise language.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4178 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 21:44:22 +00:00
rpoplin 96040726ac Better exception text for the common error of providing only dbsnp but giving dbsnp sites zero clustering weight.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4177 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 21:36:43 +00:00
depristo 32c6b48106 Proper memory metrics in the file. Please use -et if at all possible
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4175 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 20:30:09 +00:00
chartl 63c7cbd89b Forgot to commit this long ago, change so the tables are correctly propagated
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4174 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 19:06:52 +00:00
aaron db4ff7317f allowing empty RMD files (we need to not validate their sequence dictionaries against the reference in this case)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4173 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 17:45:33 +00:00
ebanks 3d6c4fc55f Removing the obsolete --hapmap and --hapmap_chip options
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4172 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 16:57:05 +00:00
depristo b33873206a GATKRunReport now has an ID (random 32 char string) that uniquely identifies the JOB run and can be used to find a run in the run repository
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4171 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 16:18:57 +00:00
ebanks 3c956110f3 Fixing up the VCFWriter storage code: instead of assuming all samples are coming from the input bam file (they're not), just use the original VCF header for writing the temporary thread files. Now parallelization in e.g. the Genomic Annotator works.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4168 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 02:16:07 +00:00
aaron 69d92fab4f adding the ability to get iterators from Tribble without having an index, and updating the Tabix code to the latest Samtools SVN version (this still doesn't fix the outstanding tabix bugs, waiting for Heng on that).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4167 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-30 21:49:23 +00:00
fromer 50f7f18cbd Changed ReadBackedPhasing default PQ threshold to 10
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4166 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-30 21:26:15 +00:00
chartl e64d1be475 Check if VC is null before trying to subset it (can happen with indels)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4165 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-30 20:43:37 +00:00
depristo 1ddb5d17c9 hostname now fully qualified and working
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4163 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 17:04:37 +00:00
depristo 4c28fc3a39 Clear documentation for GATKRunReport
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4161 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 15:59:25 +00:00
kiran 16b75e3b9a A new version of the ErrorRateByReadPosition walker, using the GATKReport functionality to store and emit its output. This version of the walker is roughly half the number of lines as the previous version, owing simply to the removal of all of the output formatting that's now handled by GATKReport.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4160 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 05:41:13 +00:00
kiran fd19c63aaf A data structure that allows data to be collected over the course of a walker's computation, then have that data written to a PrintStream such that it's human-readable, AWK-able, and R-friendly (given that you load it using the GATKReport loader module).
This object designed to be both the structure that holds data during the execution of the walker, as well as the object that properly formats and emits the data so that it can be easily loaded into R.  In the end, you get a table that looks like this:

##:GATKReport.v0.1 ErrorRatePerCycle : The error rate per sequenced position in the reads
cycle  errorrate.61PA8.7         qualavg.61PA8.7
0      0.007451835696110506      25.474613284804366
1      0.002362777171937477      29.844949954504095
2      9.087604507451836E-4      32.87590975254731
3      5.452562704471102E-4      34.498999090081895
4      9.087604507451836E-4      35.14831665150137
5      5.452562704471102E-4      36.07223435225619
6      5.452562704471102E-4      36.1217248908297
7      5.452562704471102E-4      36.1910480349345
8      5.452562704471102E-4      36.00345705967977
...

A GATKReport object can hold multiple tables, and the write() method will emit all tables in succession.  Each table starts with its own ##:GATKReport.v0.1 table header, so each table can stand alone.  This allows for tables to be mixed and matched in a single file, or for the output from different walkers to be combined into a single file with no ill effect.

The display property of individual columns can be turned off.  This is useful when a column is used to store intermediate results, necesary for the computation of some later value, but the contents of the intermediate column itself are not required in the final output file.

Finally, the GATKReportTable allows for some simple, mathematical, element-wise and column-wise operations.  For instance, two whole columns can be divided, the results of the operation being stored in a third column.  This mimics the most basic of R operations, where whole vectors can be added, subtracted, multiplied or divided without requiring the developer to explicitly write a loop.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4159 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 05:39:24 +00:00
ebanks df76474b34 Proper filtering when indels are being lifted over
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4158 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 04:48:31 +00:00
depristo 3fd2392090 Improved interface to getting command line options. Now fully traverses all objects to get all internal argument collections. Preliminary (but disabled version) of phoning home (see -et argument for more information). Captures correct and erroring out runs and writes out gzipped, xml report with lots of useful information. Needs a bit more information but is approximately working. Reports going to /humgen/gsa-hpprojects/GATK/reports/ in submitted directory that will be collated by some external tool. Only operating if -et STANDARD or -et STDOUT are provided currently and REPORT_DIR contains a file called ENABLE. WalkerTest now adds -et NO_ET to tests to avoid populating the reports with tests.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4155 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-28 22:53:32 +00:00
rpoplin 9c3f403307 Add the calculated lod value to the info field of each recalibrated VCF record.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4153 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 21:33:58 +00:00
delangel fe19539188 Small bug fix: if a read falls at the edge of an indel event (but is not part of it), don't count it towards consistency computation.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4152 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 20:37:27 +00:00
rpoplin 54355b1864 In variant quality score recalibrator Preserve the definition of known and novel to be presence in dbSNP or not even when training with 1KG project calls.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4151 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 19:07:59 +00:00
ebanks 7a5f297083 actually modify the vcf when a sample has been down-sampled
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4150 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 19:03:21 +00:00
ebanks 9860db64a3 Fix up liftover to enable lifting over indels
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4148 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 17:55:27 +00:00
hanna fb177c4fee If only dcov is specified, assume that selected downsample type is BY_SAMPLE.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4147 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 17:35:41 +00:00
ebanks 9584cbc05e UG now downsamples to 250x by default
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4146 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 16:53:15 +00:00
ebanks 431392330e Re-enable the max records in ram argument, which I accidentally removed
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4145 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 16:42:49 +00:00
hanna de5ccfb0b1 Moved hasPileupBeenDownsampled() based on Eric's request. Also eliminated
@Deprecated constructors from AlignmentContext.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4142 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 16:12:05 +00:00
ebanks 427a2f85e9 The Indel Realigner now lets the engine do all of the setup for args affecting the SAM writer. Thanks, Matt!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4141 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 15:19:47 +00:00
asivache a3d9d23b0f Now prints het genotype with GQ=0 for each indel; in two-sample (normal-tumor) mode, prints both genotypes (N and T) as hets for germline events or hom ref for N and het for T for somatic events (all genotypes still have GQ=0)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4140 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 15:06:42 +00:00
ebanks dda84a0e54 Re-enabling indels for the Genomic Annotator as per Steve's patch. Steve assures me that he will test this out really well.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4139 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 15:01:25 +00:00
hanna 6f4af47aac setMaxRecordsInRam now a member of StingSAMFileWriter.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4138 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 14:50:41 +00:00
ebanks bfcac33e80 Cleaning up playground utils and tests
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4136 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 01:25:47 +00:00
ebanks 4979dcc9a7 Finishing up the playground cleanup (for now)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4135 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 01:19:37 +00:00
ebanks 0452b1ab68 archiving, removing, or promoting to core from playground
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4134 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 01:07:42 +00:00
hanna d773b3264b Eliminated -mrl option.
Eliminated -fmq0 option.
Eliminated read group hallucination.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4133 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 21:38:03 +00:00
depristo f384d4a5d6 A java reimplementation of vcf2table in python; supports getting more useful information about genotypes (HET, e.g.) than was possible in python.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4130 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 17:50:33 +00:00
asivache 1e193e4c20 prinring '\n' at the end of line leads to some aesthetical advantages
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4129 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 16:29:42 +00:00
asivache 9b3ffa5f64 Now outputs VCF (as standard output associated with -o)! Can also outptut, in parallel, a lightweight bed and fully annotated .txt (old verbose format) with --bed and --verbose, respectively
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4128 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 16:26:03 +00:00
ebanks dfae48cee0 Moving supported tools to core
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4127 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 13:56:19 +00:00
ebanks 45d895dcf4 Remove the check in the Unified Genotyper for hitting the max reads at locus value. Instead, simply add a flag to the INFO field if any of the samples has been downsampled. 95% hooked up.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4126 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 05:50:47 +00:00
ebanks e06b2c90ef Cap the default size of join tables; this can be modified with the --maxJoinTableSize argument. Also, misc cleanup of the comments.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4125 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 05:21:26 +00:00
ebanks 79cd716671 More cleanup of the Genomic Annotator. Also, we now require join tables to have unique entries for the column keyed on the join.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4124 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 04:43:52 +00:00
ebanks dd7f136298 Office-mate courtesy: fixing Andrey's busted integration test
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4123 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 02:00:06 +00:00
kshakir 0105e8d063 Updated Queue GATK generation to reflect -B and -I changes.
To add support for "-I:tumor tumor.bam", the GATK argument
import_file (-I) is now generated as a List of NamedFile objects.
Could not get sugar working 100%.  To activate sugar import the
gatk package.  This effectively adds a new method to java.io.File
called toNamedFile.  When adding a file to the list call
  countReads.import_file :+= myJavaFile.toNamedFile
See scala/qscript/examples for actual examples.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4122 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 22:17:36 +00:00
hanna bdb3a7ebe6 The tagger was automatically combining identical tags, but this is a problem
for the ROD system.  Eliminate tag combine operation.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4121 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 22:01:32 +00:00
fromer 39da567d48 Changed ReadBackedPhasing to be a RodWalker (corrected to By(READS))
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4120 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 20:53:04 +00:00
ebanks 4678613893 Significant fixes for the Genomic Annotator.
1. Rip out all of Ben's code intended to circumvent the stable VCF Writer output system in multi-threaded mode (I threw up a little when 
I saw this code).  This will improve memory consumption when running with -nt.
2. Don't annotate indels or > bi-allelic sites.
3. Fix bug where not all records were making it into the output VCF.
4. General code clean up.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4118 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 20:16:50 +00:00
fromer 41e53d37e1 Changed ReadBackedPhasing to be a RodWalker (more efficient, since it is ROD-focused)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4117 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 19:43:57 +00:00
rpoplin ac58eb3cbb Slightly better error message for the common error of only providing a dbsnp track but giving it zero clustering weight.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4114 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 18:41:21 +00:00
rpoplin 5623e01602 GenerateVariantClusters and VariantRecalibrator now uses hapmap and 1kg ROD bindings (in addition to dbsnp) to distinguish between knowns and novels. It no longer looks at by-hapmap validation status so providing hapmap is highly recommended. Example on the wiki. Input variants tracks now must start with input.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4113 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 18:33:40 +00:00
hanna bf0b6bd486 Update integration tests to use the new ROD syntax.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4112 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 18:13:30 +00:00
asivache 14198b74d5 Can now compute av. qualities and stddevs per cycle for both original (when present in bam) and recalibrated quals
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4111 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 17:14:58 +00:00
asivache 23dbaa68e6 Can design assays when multiple (distinct) events occur at the same locus (one assay per event)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4110 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 16:52:47 +00:00
ebanks b4baa3eb8f Cleanup. INDELS model is now disconnected (and renamed 'DINDEL' in preparation for adding plumbing for Guillermo soon)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4106 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 14:52:51 +00:00
hanna 3dc78855fd Command-line argument tagging is in, and the ROD system is hacked slightly to support the new syntax
(-B:name,type file) as well as the old syntax.  Also, a bonus feature: BAMs can now be tagged at the
command-line, which should allow us to get rid of some of the hackier calls in GenomeAnalysisEngine.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4105 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-25 03:47:57 +00:00
fromer aa8cf25d08 Implemented fully symmetric sliding window read-backed phaser
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4104 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-24 21:12:32 +00:00
ebanks cba5f05538 Small fixes for consistency in the numbers.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4103 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-24 20:48:25 +00:00
rpoplin 7bbd67f3c4 Fixing stray comments.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4102 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-24 20:19:39 +00:00
rpoplin 85007ffa87 Some clean up for the variant recalibrator. Now uses @Input and @Output so that it can join the Queue party. Users now specify a -o, -clusterFile, -tranchesFile, and -reportDatFile. Example on the wiki. ApplyVariantCuts now has an integration test. Base quality recalibrator now requires a dbsnp rod or vcf file. Now that the base quality recalibrator is using @Output the PrintStream shouldn't be closed in OnTraversalDone.
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2010-08-24 20:14:58 +00:00
delangel f2b138d975 Small refactoring: make Haplotype a public class since it will be soon extended and shared with other callers.
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2010-08-24 17:52:36 +00:00
ebanks 43f1fb2380 Okay, finally done with VCF compression. Now:
1. Uses blocked gzip compression.
2. No more -bzip option available (since we can't compress to sdout).
3. Only file extensions that are compressed are .gz and .gzip.
4. No more need for CompressedVCFWriter.java



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2010-08-24 16:36:54 +00:00
ebanks 25fb53e7a2 Oops, forgot to call toLowerCase().
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2010-08-24 14:43:24 +00:00
ebanks 7957b60768 We now automatically compress the output VCF if the file suffix is one of the supported types (.gz, .bz, .bz2). You can still specify -bzip if you want to use another file suffix (or pipe it to sdout for some reason).
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2010-08-24 14:39:59 +00:00
rpoplin 7a8b6b87da Committing Michael Yourshaw's patch for AnalyzeCovariates. We spawn each RScript process and wait for it to finish in series. Thanks Michael!
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2010-08-24 13:06:25 +00:00
ebanks 9fb151f417 Minor update
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2010-08-24 05:17:10 +00:00
ebanks 44f3c5639a I have finally figured out that when you volunteer to do something in group meeting, you keep getting pestered about it on Mark's Omniplan doc until it gets done (except for contig aliasing, of course). As such...
We can now emit bzipped VCFs from the GATK.

Details: any walker that defines a VCFWriter for its @Output (i.e. pretty much every core walker from UG and on), also has associated with it the -bzip (--bzip_compression) boolean argument.  When set, it will emit a VCF that is compressed with bzip2.



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2010-08-24 04:14:50 +00:00
hanna 691333f75c Force isRequired() to be false for @Deprecated args.
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2010-08-23 23:50:30 +00:00
hanna 5d6a6420a9 New behavior for filling it output streams: if required==true for a field and the field
is an output stream, we'll automatically create it and point it to stdout.  Otherwise, 
we'll leave it empty.  
I think about it like this: marking a field 'required' indicates to the GATK that the 
walker author requires a value for this field, and if the GATK can provide one without 
end user intervention, it will.  Maybe this is hackish.  We'll try it and see.


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2010-08-23 23:39:13 +00:00
ebanks 90aef66ec5 Minor fixes for my last commit
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2010-08-23 23:25:29 +00:00
ebanks ef795825fd Yet more argument consistency updates
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2010-08-23 20:52:30 +00:00
aaron 7474afa7a3 allow other objects access to the static method that resolves bam lists, and some renaming and improved documentation for the function.
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2010-08-23 18:52:00 +00:00
ebanks ccda4f6ec1 More output consistency changes (updating wiki docs as I go along).
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2010-08-23 18:46:08 +00:00
ebanks c9c6ff49c2 Deprecated 'O' in favor of 'o' in the cleaner
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2010-08-23 18:09:24 +00:00
ebanks 55a8306a0d Update the @RMD tags to look for VariantContext.class instead of ReferenceOrderedDatum.class. Since the test for rod type is broken this won't affect anything right now.
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2010-08-23 17:49:37 +00:00
aaron 35b9883dd6 vcfwriter is in tribble now
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2010-08-23 17:01:04 +00:00
aaron 2d3b6d89dc adding the ability in Tribble to create indexes from a stream of features, so that we can create multiple indexes from one pass of the file. In the GATK we now create multiple indexes, and choose the
most appropriate based on feature density, and the longest feature in the file.  Also:

- Converted Tribble to TestNG; it has better features and is about 6x faster.
- As much code clean-up as I could get done.  More to do, especially in the example code.
- Moved asserts in the code to throw exceptions.
- Added getBinSize to the index interface; both indexes already implemented this.
- Removed the abstract parts of the indexCreator interface; this is now more simple.
- Added an IndexType enumeration; might be overkill but it is at least a single point of entry for index information.



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2010-08-23 06:54:59 +00:00
kiran 295472bf69 Simple change to handle a no-call (must avoid asking for the second allele, which will be be null in this case). Also, added a hack to deal with input VCFs where there are no genotype likelihoods (needed in order to process Hapmap and 1KG VCFs). In this mode, called genotypes are assigned a likelihood of 0.96, and alternative genotypes are given 0.02 each. I know Beagle actually takes genotype data without likelihoods, so this might not be the right way to do this.
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2010-08-23 05:13:09 +00:00
kiran dec713a184 Simple test code from Steve Schaffner to compute R^2 and D'. This is just for educational purposes. Don't use this code for anything, ever!
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2010-08-23 05:06:16 +00:00
hanna 8252494fa9 Forgot to update UG performance test to reflect the new -o argument.
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2010-08-23 00:57:16 +00:00
hanna c177801d81 Add deprecated command-line arguments, and switched over UG to output to
-o/--out instead of -varout.  Let's watch as our intrepid support engineer
gracefully responds to all the incoming questions of the form: "the GATK told
me to use -o instead of -varout.  What do I do?"


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2010-08-22 21:01:44 +00:00
hanna b80cf7d1d9 Modifications to the output system for better interaction with @Output. Multiplexed arguments. More details in the Monday meeting.
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2010-08-22 14:27:05 +00:00
ebanks 30a104228a Don't require entropy reduction when cleaning only at known sites; instead we need to trust the known indels. This will improve consistency between lane-level and aggregated cleaning.
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2010-08-22 02:44:38 +00:00
depristo b6989289fc Potential bug fix for bad references where some codons may have Ns
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2010-08-21 12:09:33 +00:00
kiran 121b4f23b6 Simple change to allow a list of samples or regular expressions to be provided in a text file (one line per sample).
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2010-08-21 00:01:48 +00:00
ebanks 165dc6d3b0 Ryan, what did you decide about supporting this tool? Is it still useful?
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2010-08-20 19:16:14 +00:00
ebanks 2ef2f1b24a Fix UG's simple indel calculation model so that deletions are created correctly
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2010-08-20 15:35:47 +00:00
aaron fa36731faf fixes for VariantEval integration tests affected by the spaces to underscores change.
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2010-08-19 22:43:20 +00:00
fromer 1c4784999a Updated to work exclusively in log10 space
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2010-08-19 21:31:07 +00:00
fromer 3af4e618cc Fixed precision issues with PQ (phasing quality)
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2010-08-19 20:34:47 +00:00
kshakir 88ca1fb22c Lazy loading reflections so Queue can hack the classpath before the PluginManager looks for classes.
Removed extra quotes from 'cd' pre-exec command.


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2010-08-19 20:29:52 +00:00
aaron 63ada20da5 allow RefSeq files to optionally contain the header line, which is the default output from the UCSC table browser
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2010-08-19 20:25:37 +00:00
fromer effeedf1a3 Updated Bayesian phasing method to output per-site phasing statistics (and to not cap PQ at 40)
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2010-08-19 19:55:47 +00:00
aaron 04e5b28f6d updates for VCF; we can no longer cache genotypes or alleles in a static array, this is bad for sharred memory parallel runs. One instance per codec was better for performance than using ThreadLocal code.
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2010-08-19 19:34:44 +00:00
corin 8054b6b295 Changing a name of a column for variantevals output for easier reading by R--let me know if this needs to be updated elsewhere; it's just a space to an underscore.
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2010-08-19 19:18:16 +00:00
ebanks 4b94f8c21b Silly me, I forgot to check for the contig boundaries. Thank goodness for performance tests!
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2010-08-19 18:40:26 +00:00
aaron f16bb1e830 fix for a bug in package utils.
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2010-08-19 15:01:50 +00:00
fromer 15c5aa6e48 Efficient iteration over all possible combinations of variable assignments, for variables of arbitrary cardinalities
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2010-08-19 14:14:37 +00:00
ebanks 1ec305cd15 Fix for running the cleaner at the lane-level for known indels only: instead of relying on the reads to get the reference sequence, we now use an IndexedFastaSequenceFile in all cases and pad the reference with bases on either end. This allows us to deal with cases in which we are trying to clean just a single deletion-containing read with tiny LOD (so the read needs to be pushed off the seen reference; @Reference doesn't yet work for Read Walkers) and has the added benefit of allowing us now to get much larger known indels that aren't completely covered with reads.
Thanks to Matt for the advice.

Also, for Guillermo: while I was at it, I changed the .stats debug output to emit the original interval instead of the cleaned region.



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2010-08-19 11:31:13 +00:00
ebanks 98f7679619 Fixed the bug reported on GS regarding a clipped read that got moved several hundred bases away. The code that got triggered here was written back in the original version of the cleaner and it never actually did the right thing.
While I was fixing it, I noticed that we weren't allowing the cleaner to un-clean reads with indels when they're wrong even though we should.  Hypothetically, that should rarely happen: only when we can left-align out an indel or when the original mapper really went haywire.  This situation is rare enough that I'm calling logger.info to let the user know it's happening and suggesting that they double-check that everything looks right with their reads.  Better to be extra-cautious now that the cleaner is moving into the 1kg and Broad production pipelines soon
.
Mark, have no fear: this was truly a rare edge case - one that won't affect the cleaning stats.  There is no need to re-clean the data processing paper bams!



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2010-08-19 01:42:48 +00:00
aaron 3dc4d3c3a9 removing the custom reflections library from the libs, and adding a release version. Hopefully this will fix the problem Menachem has been seeing with random JVM crashes. Also
removed the auto-deletion of the reflections jar, and removed the very old OmniPlan document we had checked-in.


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2010-08-19 00:42:37 +00:00
fromer 1336ea17a3 quality-scored-based Bayesian phasing algorithm implemented
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2010-08-18 21:17:46 +00:00
fromer 553bda4e0e PreciseNonNegativeDouble permits precise arithmetic operations on NON-NEGATIVE double values
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2010-08-18 21:10:58 +00:00
rpoplin 8f15b2ba72 Memory optimization for the VariantRecalibrator. Only add variants to the list if they pass the novelty and qual filters.
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2010-08-17 21:57:28 +00:00
kshakir b7c60b9729 Queue now uses its own version instead of the gatk version.
Added a Queue release directory.


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2010-08-17 19:34:23 +00:00
aaron e632d9b83d remove some dependencies on out of date methods from the tests
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2010-08-17 00:07:26 +00:00
aaron c1df293feb remove testing code from tribble track builder, set the command line program in walker test to null to reclaim memory in integration tests, and removed some orphaned intergration tests.
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2010-08-16 23:52:01 +00:00
rpoplin 578e7fa36d Don't output -0 as qual value in VariantRecalibrator.
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2010-08-16 16:47:58 +00:00
kiran 3d63302b70 Deprecated. Use SelectVariants instead.
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2010-08-16 15:07:50 +00:00
depristo 20db00a3e8 Lazy reference loading; the engine doesn't fetch the reference bases until you actually call ref.getBases(). With the new hidden --dontUpdateUG to table recalibrator this is 2-3x faster than before. Enabled for locus, read, and rod walkers.
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2010-08-16 13:46:22 +00:00
aaron 9ab647b730 adding checks to the RefSeq rod for line's that contain less than the required number of columns (we expect there to be 16 columns)
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2010-08-16 13:34:32 +00:00
aaron cc58a27b00 fix for broken unit test; make sure when we can't get an index off of disk, the internal method returns null
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2010-08-16 13:12:32 +00:00
aaron b23545fafa re-enable the check for up-to-date versions in the Tribble index.
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2010-08-16 12:47:58 +00:00
ebanks 37586d3a43 Don't exception out when bad aligners emit wonky alignments; instead, just don't clean
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2010-08-16 02:36:04 +00:00
depristo a36951f11a @output and @input arguments for table recalibration for use with Q
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2010-08-14 18:36:28 +00:00
depristo 61064d7075 GenotypeConcordance log file -- if provided, GC module will write FN/FP information to this file by context
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2010-08-14 18:35:57 +00:00
depristo 0d209d5442 Nicer printing out of clustering
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2010-08-14 16:02:13 +00:00
kshakir 4710015c17 Disabled AlignerIntegrationTest while addressing build machine memory issues.
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2010-08-14 01:23:21 +00:00
kshakir 307c8ca027 Created a new playground script for cleaning bams in Firehose.
Some refactoring of Queue extensions for reusability in scripts.
Putting the extensions into the Queue.jar after building them.
More updates to GATK walker arguments specifying @Input and @Output for Queue.

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2010-08-13 23:52:24 +00:00
fromer dfe2922b5e First working version of statistical haplotype phaser
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2010-08-13 21:29:45 +00:00
ebanks f36c0ed613 Stop building obsolete VCFTools and CGUtilities
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2010-08-13 19:28:36 +00:00
rpoplin 222f61df87 Bug fix for damoskow in TableRecalibration. Shouldn't try to update the reference mismatch rate tag for an unmapped read.
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2010-08-13 18:57:07 +00:00
kshakir 80a70ccf03 Repopulating rodsToSamples. Code reviewed by Eric.
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2010-08-13 17:07:18 +00:00
hanna cb144734c0 Getting rid of GenotypeWriter interface. Of note:
- GATKVCFWriter deleted, to be replaced if absolutely necessary when VCF writing goes into Tribble.
- VCFWriter is now an interface, for easier redirection.
- VCFWriterImpl fleshes out the VCFWriter interface.


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2010-08-13 16:33:22 +00:00
kshakir 542d394e09 Cleaning up Queue debugging output.
-l DEBUG with local programs now prints out the stdout/stderr of the programs as they are run.
More documentation in the examples with a new even simpler CountReads example.
Took out unused option to build Queue GATK extensions separately.

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2010-08-13 15:54:08 +00:00
chartl 49a3db9dfe A brief implementation of a QD calculation that is not quite so bimodal for known variants (multiplicatively penalizes QD by (n variant samples)/(n variant alleles) ). Not sure how helpful this will be (which is why it is in oneoffs). Seems nice on MCKD1, but I'm still playing with the optimization.
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2010-08-13 15:42:37 +00:00
chartl c6a8fba922 Occasionally if a JEXL expression results in no variants being captured (like "QD > 20.0" on filtered variants) the per-sample mapping from samples to eval objects can be empty. This semi-hacky fix prevents null pointer exceptions in setting up the resulting empty table (by jumping straight to it in this case)
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2010-08-13 15:37:45 +00:00
ebanks f874e548aa Shame on us. FlagStat used ints instead of longs, so we ended up getting negative read counts
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2010-08-13 03:00:57 +00:00
ebanks 71c4d3f33d Moving pointer to b36 reference from /broad/1KG to /humgen/1kg
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2010-08-13 00:54:34 +00:00
kshakir f39dce1082 Exposed CommandLineFunction defaults to the Queue.jar command line (see -help).
Added ability to skip up-to-date jobs where the outputs are older than the inputs.
Changed -T CountDuplicates --quiet to --quietLocus so that Queue GATK extensions can use both short and full argument names.
Short names can be used to set values on Queue GATK extensions, for example: vf.XL :+= myFile
Moved Hidden from the GATK to StingUtils.
Updated ivy from 2.0.0 to 2.2.0-rc1 to fix sha1 issue: http://bit.ly/aX72w7
Added Queue to javadoc and testing build targets.
Added first Queue unit test.
Another pass at avoiding cycles in the DAG thanks to all function I/O being files.


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2010-08-11 21:58:26 +00:00
chartl 8c08f47923 1) Make sure that the table size is set correctly in finalize()
2) Make sure variants are biallelic before asking for isTransversion()



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2010-08-11 20:32:22 +00:00
hanna 41d57b7139 Massive cleanup of read filtering.
- Eliminate reduncancy of filter application.
- Track filter metrics per-shard to facitate per merging.
- Flatten counting iterator hierarchy for easier debugging.
- Rename Reads class to ReadProperties and track it outside of the Sting iterators.
Note: because shards are currently tied so closely to reads and not the merged triplet of <reads,ref,RODs>, the metrics
classes are managed by the SAMDataSource when they should be managed by something more general.  For now, we're hacking
the reads data source to manage the metrics; in the future, something more general should manage the metrics classes.


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2010-08-11 20:17:11 +00:00
ebanks 7385cce494 Useful tool for calculating the perentage of misaligned reads at homozygous non-ref indel sites
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2010-08-11 17:57:44 +00:00
ebanks cc9e6b4ad9 Moved into Tribble to be with VC
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2010-08-11 17:14:32 +00:00
aaron 14e492fa80 fix for a problem in readNextRecord() of BFS, where we'd go looking for the next record far into in the next contig because (f.getEnd() >= start) was never true once we cycled to a new conitg. Added a check for contig identity. Also, removed duplicate HW calculation classes in the GATK and Tribble.
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2010-08-11 17:01:38 +00:00
flannick cd4cd6db81 Added option to print out discordant sites in GenotypeConcordance
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2010-08-10 19:55:19 +00:00
flannick 18fc5c8c3e Initial implementation of annotator to compute allele balance for each sample
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2010-08-10 19:40:17 +00:00
flannick 1dc373b9d0 Initial implementation of evaluator to compute popgen theta statistics
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2010-08-10 19:36:34 +00:00
aaron 0a8ebcb4f9 moving tests over from the GATK to Tribble, and added a speed-up to the readNextRecord() that Mark suggested. Also removed the contained flag from the queries to Tribble in the GATK.
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2010-08-10 17:54:59 +00:00
ebanks 3ff6e3404e Alleles are now returned in a consistent order, so we can deal with tri-allelic sites
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2010-08-10 15:21:10 +00:00
aaron d514c424fd adding tests for BTI in the ROD validation tests
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2010-08-10 06:05:40 +00:00
ebanks ca5b274f16 Unit, integration, and performance tests are all busted, so this is a good time to make a big commit...
Major cleanup of the genotype writer code from the calling end.  UG no longer supports making calls in anything but VCF, and that allows us to use the VCFWriter more generically now.  Putting the ball in Matt's court to finish collapsing everything.



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2010-08-10 04:18:29 +00:00
aaron 0f78f70ed4 fix for feature source in Tribble; we need to check that the record coming back isn't null. Also in the GATK added code to set the default logging level in integration tests to WARN, with the default level change they were spewing a bunch of text.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3995 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-10 02:57:23 +00:00
ebanks 419a36f74c Starting the clean up of the sting.utils.genotype code which is all either moving to Tribble, moving to sting.utils.vcf, or being removed.
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2010-08-10 02:16:05 +00:00
depristo 2a4a4b0aab VariantRecalibrator now calls plot_Tranches directly so it works on the farm
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2010-08-09 23:17:16 +00:00
depristo c2c0c1f57c Removing used --enable_overlap_filters argument; Eric assures me this won't break the currently broken tests
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2010-08-09 22:27:13 +00:00
aaron 0f29f2ae3f fixes for the Tree index, and some small clean-up in the GATK.
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2010-08-09 20:41:50 +00:00
rpoplin 3eee3183fd Checking in the tiger team changes. LOD calculation modified. -qScale is back in case people need it.
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2010-08-09 20:41:03 +00:00
ebanks 0eeb659aa3 Useful utility function to print out the Allele as a String since toString prints out * for refs. It was annoying to keep seeing new String(Allele.getBases()).
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2010-08-09 20:35:56 +00:00
chartl d0ecb8875a Added - a class to count functional annotations by sample (currently for the MAF annotation strings, soon to be migrated to genomic annotator once it is up and running)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3988 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-09 20:09:13 +00:00
aaron 5b0b9e79ba protect against nulls
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2010-08-09 19:21:39 +00:00
depristo 8944800f60 Minor refactoring for Ryan
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2010-08-09 18:05:23 +00:00
kshakir 4f51a02dea Changed logging level to default at INFO instead of WARN.
Changes to StingUtils command line for use in Queue, replacing Queue's use of property files.
Updates to walkers used in existing QScripts to add @Input/@Output.
RMD used in @Required/@Allows now has a new default equal to "any" type.
New QueueGATKExtensions.jar generator for auto wrapping walkers as Queue CommandLineFunctions.
Added hooks to modify the functions that perform the Scattering and Gathering (setting their jar files, other arguments, etc.)
Removed dependency on BroadCore by porting LSF job submitter to scala.
Ivy now pulls down module dependencies from maven.


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2010-08-09 16:42:48 +00:00
aaron 30178c05c5 providing a way to specify how you'd like -BTI combined with your -L options; set BTIMR to either UNION (default) or INTERSECTION.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3983 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-09 14:00:52 +00:00
hanna 6b4a1e3b9f Reenabling code that was commented out after it was confirmed to work by many participating in this thread:
http://getsatisfaction.com/gsa/topics/error_thrown_when_reading_reference_file


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2010-08-09 00:12:09 +00:00
kiran 48e311a5ea Added copyright notice.
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2010-08-08 07:11:51 +00:00
kiran 9aa70d9c7c Replaced by SelectVariants
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2010-08-08 07:07:42 +00:00
kiran 758ab428f5 Better logging info for the samples being selected and the sample expressions being ignored.
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2010-08-08 07:03:37 +00:00
kiran e242a8f143 Put single quotes around the regex. This isn't strictly necessary through the integration test machinery, but *is* necessary at the console, and it's convenient to be able to cut and paste this.
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2010-08-08 05:56:57 +00:00
kiran 13f29660bb Integration test for SelectVariants. Tests a complex case with an explicit sample selection, sample selection by regex, exclusion of non-variant and filtered loci, and JEXL selection on low allele-frequency variants
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3976 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-08 05:49:47 +00:00
ebanks 637a1e5055 Updating to use the new VA interface
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2010-08-08 05:31:01 +00:00
ebanks bd6d5a8d51 Adding command-line header to VA and VF
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2010-08-08 05:21:15 +00:00
kiran 64446f0ddf Avoid NaNs in the final output.
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2010-08-08 05:16:52 +00:00
ebanks 3f6e44dc71 Updated recalibrator and cleaner to output full command-lines in the bam header
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2010-08-08 04:39:18 +00:00
kiran 0da0dfa1da Cosmetic change - lower-case for all command-line arguments' short names.
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2010-08-08 04:12:01 +00:00
kiran eb1bb94d1c Moved the evaluation of the JEXL expressions to a point *after* the samples are subset and the INFO-field annotations are updated. I think this makes more sense than having the evaluations happen beforehand, since it seems jarring to have the JEXL expressions operate on the annotations before they're updated, and have the file contain the annotations after they're updated. Now, selecting on something like allele frequency will actually apply to the annotations that actually end up in the file, while selection on other annotations (which are carried over without modification) will act exactly the same regardless.
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2010-08-08 04:09:02 +00:00
ebanks 594b7912f1 Added a generic method for returning the complete command-line used when calling a walker, to be used in the bam/vcf headers. As requested, every possible engine/walker argument is included. I've added it to the Unified Genotyper output, so people can try it out and let me know what they think. Something that needs to be discussed in group meeting: what happens when we merge VCFs? Do we keep all of the command-lines?
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2010-08-08 03:53:07 +00:00
kiran 6e389059cf An improved version of VariantSubset and VariantSelect, meant to replace those walkers. Takes in a VCF and creates a subsetted VCF by sample(s), JEXL expressions, or both.
When subsetting by sample, the -SN argument is treated as a literal sample name and, if no match is found, as a regular expression.  This allows for a large number of samples to be selected at once (useful when, for instance, cases are given one sample name prefix and controls are given another).

After the subsetting procedure, the INFO-field annotations AC, AN, AF, and DP are all recalculated to properly reflect the new contents of the VCF.



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2010-08-08 02:57:06 +00:00
ebanks ac4699a650 Re-enabling this test
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2010-08-06 20:20:37 +00:00
depristo f275041b1c -minimalVCF for CombineVariants. Work around for broken locking code.
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2010-08-06 16:10:59 +00:00
aaron 9076c0b28b removing unused code
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2010-08-06 14:24:39 +00:00
ebanks 341e752c6c 1) AlleleBalance is no longer a standard annotation, but the Allelic Depth (AD) is for each sample.
2) Small fixes in the VCFWriter:
a) Trailing missing values weren't being removed if their count was > 1 (e.g. ".,.")
b) We were handling key values that were Lists, but not Arrays.  We now handle both.



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2010-08-06 12:05:14 +00:00
aaron c68625f055 Fixes from Mark for the MutableContexts; this fixes the clearGenotypes() and the clearFilters() methods, and adds a method to clear the attributes. Also added is a method for creating a variant context where the attribute list is pruned to a specific subset, which can be null.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3955 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 22:39:51 +00:00
aaron 72ae81c6de VariantContext has now moved over to Tribble, and the VCF4 parser is now the only VCF parser in town. Other changes include:
- Tribble is included directly in the GATK repo; those who have access to commit to Tribble can now directly commit from the GATK directory from Intellij; command line users can commit from 
inside the tribble directory.
- Hapmap ROD now in Tribble; all mentions have been switched over.
- VariantContext does not know about GenomeLoc; use VariantContextUtils.getLocation(VariantContext vc) to get a genome loc.
- VariantContext.getSNPSubstitutionType is now in VariantContextUtils.
- This does not include the checked-in project files for Intellij; still running into issues with changes to the iml files being marked as changes by SVN

I'll send out an email to GSAMembers with some more details.



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2010-08-05 18:47:53 +00:00
fromer b21f90aee0 Added preliminary framework for performing short-range phasing (ReadBackedPhasingWalker.java)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3953 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 14:56:34 +00:00
rpoplin a8d37da10b Checking in everyone's changes to the variant recalibrator. We now calculate the variant quality score as a LOD score between the true and false hypothesis. Allele Count prior is changed to be (1 - 0.5^ac). Known prior breaks out HapMap sites
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3952 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 14:12:19 +00:00
ebanks 07addf1187 Fix for Kiran: since the Variant Annotator will re-annotate on top of existing annotations it makes sense to remove old headers if they conflict with the definitions being added by VA.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3951 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 06:44:39 +00:00
ebanks 1539791a04 Fix for Kiran: when using VCFs for the comp tracks in the Annotator(s), don't put the headers from them into the output VCF.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3950 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 04:45:47 +00:00
ebanks 227c4b10f0 Bug fix for Chris: convert comp tracks to VC so that we can respect the filter field. Added an integration test to cover this.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3949 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 04:13:16 +00:00
ebanks 84ca2f27bb Bug fix for Chris: added method createPotentiallyInvalidGenomeLoc() to the GenomeLocParser that doesn't check that the contig exists in the sequence dictionary. This is crucial for lifting over from one reference to another, as sometimes contigs names change in the liftover (e.g. chrM to MT).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3948 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 03:19:02 +00:00
ebanks f247cbf68e I want to be the first to use the new super-cool Hidden annotation! No more telling people not to use the cleaner debugging options.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3947 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-05 02:44:37 +00:00
hanna 78bfe6ac48 Added @Hidden annotation, a way to deliberately exclude experimental fields and
walkers from the help system.


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2010-08-05 02:26:46 +00:00
chartl 82d6c5073b A simple read strand filter for potluri on get satisfaction
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2010-08-04 23:23:50 +00:00
asivache d53d5ffbf6 A utility class that computes running average and standard deviation for a stream of numbers it is being fed with. Updates mean/stddev on the fly and does not cache the observations, so it uses no memory and also should be stable against overflow/loss of precision. Simple unit test is also provided (does *not* stress-test the engine with millions of numbers though).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3944 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-04 21:39:02 +00:00
ebanks 8d8acc9fae Moving G's MyHapScore to replace the old HapScore
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2010-08-04 21:00:54 +00:00
ebanks 7858ffec32 Spit out the error in the warning message so that Sendu can tell me what his problem is
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2010-08-04 20:40:28 +00:00
delangel 86211b74e8 Bug fix: when padding alleles in creating a Variant context from an indel, leave no-call alleles as no-call alleles.
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2010-08-04 19:51:10 +00:00
chartl 38e65f6e1b Added: A VariantEval module that gives simple metrics by sample, an an abstract class that makes per-sample modules easy to write (but a little bit clunky since a class needs be defined for each data point -- see SimpleMetricsBySample as an example). AnalysisModuleScanner needed a slight update to pull in data points from parent classes for this to work (thanks Khalid for showing me how to do this). After a code review with Aaron (thanks) and ensuring integration tests pass, I am committing.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3939 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-04 19:37:39 +00:00
hanna f13d52e427 Attempt to determine whether underlying filesystem supports file locking and
disable on-the-fly dict and fai generation.


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2010-08-04 19:28:27 +00:00
ebanks 340bd0e2c1 Removed hard-coded pointers to references
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2010-08-04 17:59:37 +00:00
asivache a47824d680 A couple of type specific implementations of a single extend() method: takes an array (byte[] or short[] currently) and "extends" it to the left or to the right by the specified number of elements. Returns newly allocated array, with the content of original array copied in (if we extend by n elements to the left, then the returned array will have n default-filled elements *followed* by the content of the old array).
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2010-08-04 15:30:48 +00:00
asivache 012a7cf0a5 mismatchCount now has a version that counts mismatches only along a part of the read (takes additional args start_on_read and length_on_read to specify the read's subsequence to be interrogated);
isMateUnmapped() convenience shortcut method added.

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2010-08-04 15:27:35 +00:00
delangel e6e8a20a1e 1) Fix MyHaplotypeScore to ignore 454 reads, since all those pathological non-existing indels make some sites' score blow up. If a site is only covered by 454 reads, we (hopefully) detect this graciously and just emit a score of 0.0 for the site.
2) New annotation SByDepth = log10(-StrandBias/Depth) (non-standard annotation, key name = "SBD"). If StrandBias/Depth happens to be positive (very rare but can happen), annotation gets value=-1000. 
3) Abstracted out new class AnnotationByDepth so that QD and SBD can share code.



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2010-08-04 15:23:08 +00:00
ebanks bf60ed0b25 Needed it here too: warn user instead of dying if the R script cannot be executed
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2010-08-04 13:11:27 +00:00
ebanks 40ffe34686 Warn user instead of dying if the R script cannot be executed
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2010-08-04 13:08:15 +00:00
ebanks 17d5e89734 Now --list annotates which modules are Standard
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2010-08-03 21:00:37 +00:00
ebanks 72875cf717 Removing annoying printouts
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2010-08-03 19:55:00 +00:00
ebanks 2307bed742 VariantEval now uses the "standard" modules only by default. You can add other modules with the -E argument and not use all of the standard ones with -noStandard (they can be added back individually with -E).
Generalized some of the packaging code from VariantAnnotator.  Matt might want to take a look to make this nicer...?



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2010-08-03 16:51:10 +00:00
ebanks a7ff9caf54 Added sanity check against bad people and/or crazy big indels at edges of ref context
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2010-08-03 05:37:17 +00:00
hanna 5f1b67c1de Coping out and forcing the entire GATK (and associated JVM) to use US English
locale.  Method to force JVM into proper locale exists in CommandLineProgram
and is disabled by default, but implementers of CommandLineProgram can opt in
to the forced US locale by calling a static method.

Question for the VCF developers: I removed the code to explicitly output doubles
in US locale.  Do you / how do you want to handle this in applications that use
Tribble outside the GATK?


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2010-08-03 03:48:26 +00:00
chartl 2bc69572cb Make transcript2info capable of handling b37/hg19 contigs
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2010-08-02 17:32:08 +00:00
depristo c203e0fb02 Added JEXL support for hetCount, homRefCount, and homVarCount in VCs.
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2010-08-02 12:24:11 +00:00
depristo 7fab5c0a8f support for -singleton_fp_rate arguments to variant recalibrator instead of the pop.gen. AF prior. Worth experimenting with Ryan.
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2010-07-31 21:17:47 +00:00
ebanks 6d91cd587e Be explicitly clear about which options are for debugging purposes only and shouldn't be used if your username is not ebanks@broad. If only we had a @hidden annotation option for args...
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2010-07-30 14:18:31 +00:00
depristo ac8048f17b Support for automated selects for tranches in variant eval -- use -tf to make tranch-specific ve outputs. ApplyVariantCuts with tranche reading functions for general use, along with todo for ryan. CombineVariants now has --filteredAreUncalled and will treat filtered snps in input VCFs are uncalled, and so won't emit -filteredInOther set features
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2010-07-30 14:16:43 +00:00
chartl 9231d13252 Minor modification: adding an argument to make slightly more general.
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2010-07-30 05:20:20 +00:00
chartl db54d63fc7 Hahaha yes, ownage. This now works.
BTW, Eric, thanks for forwarding the DepthOfCoverage thread to gsamembers. I'd forgotten about reduce by interval. Mighty helpful in this case!




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2010-07-30 04:23:02 +00:00
chartl 3e3f8c7692 Simple count intervals walker, as per my recent email to GSAMembers. Never use this. It doesn't behave the way you think it does.
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2010-07-30 03:39:23 +00:00
delangel ba1a330293 Corrected location and made more explicit the error message thrown if someone tries to read a VCF 3.3 file with indels, which is not supported.
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2010-07-29 20:02:47 +00:00
delangel 5af986e0c1 Add an integration test for Beagle (one for ProduceBeagleInput and one for BeagleOutputToVCFWalker)
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2010-07-29 18:49:22 +00:00
delangel e1a34685fd Add back MyHaplotypeScore as a new implementation for HaplotypeScore, this time as a non-standard annotation. Implementaiton is also better, it computes better consensus haplotypes, ranks them by sum of quality score.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3890 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-27 21:23:19 +00:00
hanna 6c93b13428 A Java sizeof, implemented using the Java instrumentation API. Can either get the memory consumed either only by a single
object or by a single object and all the references it contains.  Requires a command-line change to add a Java agent to
the command-line; see the Sizeof.java javadoc for details.


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2010-07-27 18:44:15 +00:00
rpoplin f5566a6593 Knocking out some quick findBugs.
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2010-07-27 14:10:59 +00:00
delangel 894623858d OK, bad idea to add new temporary annotation - revert to keep integration tests hapy.
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2010-07-27 12:07:13 +00:00
delangel 71bfb1ee35 First redesign of HaplotypeScore - now, a different approach is taken to build possible haplotypes at a site: first, all possible haplotypes consistent with reads are formed (reference is not used). After this list has been formed, it is ranked according to the number of reads that are consistent with it and the two most popular haplotypes are chosen.
this reduces to the old method in typical cases, but it builds haplotypes correctly if there are two variants close by within a context window.

Annotation is temporarily named MyHaplotypeScore so it can be run in parallel with old one, soon it will be renamed after some more testing.
 


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2010-07-27 10:54:56 +00:00
delangel cffebcc867 Small utility walker used for production of the Beagle data processing paper section. Walker will print out to output file, for every site common to a reference vcf and an eval vcf, a given sample's depth, hapmap AC and AF and pre/post Beagle genotype as well as corresponding reference (e.g. Hapmap) genotype.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3884 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-27 03:00:17 +00:00
ebanks 1d9ed1e214 Cleanup of old VCFRecord code
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2010-07-27 02:56:47 +00:00
ebanks 7dd55fbf13 Archiving
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2010-07-27 02:47:18 +00:00
aaron 9667942e52 fix for Ryan's issue: we also need to sync when we store a resource.
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2010-07-26 22:17:47 +00:00
hanna 8b072b59e2 Returning index dumping functionality in BAMFileStat to a useable state.
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2010-07-26 20:03:50 +00:00
depristo 19ad44d332 Minor improvements to CombineVariants to handle the complex case from Chris. IntegrationTest of complex case.
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2010-07-25 13:46:11 +00:00
ebanks 7c5a3836db Trivial changes
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2010-07-25 04:00:47 +00:00
ebanks 56de475f11 Based on feedback from non-GSA users, who claim that our exceptions are 'scary and overwhelming,' I've cleaned up the error message to first describe the error and what users should do and then ask them to copy the subsequent stack trace into their GetSatisfaction posting.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3874 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-25 03:57:44 +00:00
ebanks 9bd8a2685b Because the performance tests were busted on LSF, no one caught this error until now: when Matt changed over the contract for the AlignmentContext, this line needed to get updated too. All is well now.
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2010-07-25 02:53:01 +00:00
depristo b551eaf8fd Actually commit the code that makes variant eval run in a reasonable amount of time.
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2010-07-24 17:32:03 +00:00
depristo b0b37c3476 No handles (I believe) reference only VCs correctly
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3871 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-23 23:09:23 +00:00
depristo e21376219d Updates to CombineVariants for Tim. -setKey can be null. Integrationtests for -setKey foo and -setKey null.
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2010-07-23 22:35:52 +00:00
delangel 26bb1cd9ce Fix broken test correctly
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2010-07-23 20:47:41 +00:00
delangel 4fc1db7aaf Change interface to VCFWriter add() method to take only 1 byte from reference (since that's the only thing it needs), to prevent bugs like having people call it with ref.addBases() which is wrong (since it provides bases starting from the left of reference context window).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3868 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-23 20:24:03 +00:00
aaron b3fd145161 fix for a bug deep in the tribble indexing: if you had a single record in the first contig, the second contig's index blocks would point to the wrong file seek location, and you'd see no
features in that contig. Thanks to Mark for finding this.  I'm not rev'ing the index version (which would cause all indexes to be rebuilt), since this seems like a pretty rare edge case.


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2010-07-23 18:39:55 +00:00
depristo 33090629ea VariantEval can now see the EvaluationContext group objects, so they can decide if/when to print interesting sites. GenotypeConcordance has a hard-coded option to print FNs that is on the way to being generally useful. VCFWriter now uses the US locale for formatting floating point numbers; I believe this fixes a long-standing annoyance. Italian guys will check on this.
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2010-07-23 17:16:50 +00:00
delangel 5eef15cfdf a) Bad bug fix to CombineVariants: when indels were being merged, the reference base provided was wrong - ref.getBases()[0] was being used, but this returns bease at start of window. Instead, the reference at current locus should be used.
b) Cosmetic change to Beagle annotation description.



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2010-07-23 15:13:47 +00:00
ebanks 4ff8b8fc0e 1. Fixing a bug that Mark found where indel-containing clipped reads would get an original cigar tag even when they didn't actually get modified.
2. Added some useful logging messages.
3. Added a oneoffs walker to calculate the number of realigned reads and intervals containing them.



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2010-07-23 14:24:01 +00:00
chartl 973934f769 Depth of coverage now uses longs rather than ints. We can now successfully run on the Lepidosiren paradoxa genome. (about 80 GB)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3859 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-23 14:14:12 +00:00
depristo 536399eaa0 Improvements to variant combine. Now calculates AC/AN/AF correctly by calling into the VariantAnnotator engine. Automatically removes annotations that are inconsistent across incoming VCs (in simpleMerge). TODO bug fix for Guillermo/Eric.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3858 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-23 13:33:11 +00:00
aaron 9579aace1f updates to code dependent on Tribble, as well as the following Tribble changes:
- makes writing to disk optional for indexes using the indexCreator classes (allow the user to specify the index file, if null don't write it)
- removed some system.out debugging code
- fixed version checking in interval tree 
- made indexes store and return a LinkedHashSet for sequence names (to ensure they've preserved the ordering in the file)
- index creators now read the file before creating the index
- changed the Index.write() method to take a LEDataStream instead of a file
- removed the sequence dictionary code on the header
- added utils for getting LEDataStreams
- added a base Tribble exception




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2010-07-23 01:56:10 +00:00
ebanks c5325b03be 1) Removed hard-coded strings. Please let's use the fields defined in VCFConstants.
2) General code cleanup.



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2010-07-23 01:49:47 +00:00
hanna e9d243babb More improvements to exception handling during multithreaded runs based on
a bug reported by Ryan.


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2010-07-22 22:13:01 +00:00
hanna 83798225ac Repackaged datasource-specific command-line tools into their own package. Added a tag renamer tool.
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2010-07-22 19:50:34 +00:00
delangel 98caedb5f0 Forgot to update VCF4 unit test.
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2010-07-22 16:25:51 +00:00
asivache 485023ba8e this.intersect(that) method added to GenomeLoc (returns intersection of two intervals or dies if the locations do not overlap)
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2010-07-22 16:00:30 +00:00
asivache 3308d956f4 Added utility shortcut method: getOriginalQualsInCycleOrder(read)
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2010-07-22 15:44:25 +00:00
delangel 473ec91633 a) Bug fix in VCFHeader parsing - Info fields were not being parsed properly, with the result that the Count field was not being properly displayed in records (e.g. if Count=0 for a particular field, the INFO tag was still being displayed as ...;Field=x;... instead of ...;Field;...
b) Bug fixes and update to how we represent indels and other complex events in a VariantContext object. Convention is now that all events are left aligned, with the first variant context location marking the common base before an event occurs. However, alleles in a VC don't have the common base in all VC's. Two new functions are now part of VariantContextUtils: CreateVariantContextWithPaddedAlleles and CreateVariantContextWithTrimmedAlleles. Both take a VC as an input and create a VC as an output.
Main flow is that a VCF reader would create a VC with trimmed alleles, all walkers would ideally work with these trimmed alleles, and then the VCF writer would pad back the alleles before writing. However, there are special cases where we need to pad alleles like for example when merging/combining VC's.

Pending issues:
- PED and DBSNP RODs have to be updated to create VC's for indels following the convention above. Changes will go in after Tribble location is moved and things are tested.
- Need to verify Indel genotyper and other modules that create VC's with indels.- Wiki page describing convention above and how walkers should interpret indel VC's still needs updating/detailing.
 


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2010-07-22 02:36:45 +00:00
chartl b696c3ea98 No more traversal reduce results.
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2010-07-21 18:34:54 +00:00
chartl 365b42390d Support for generating (very basic) wiggle files for use with IGV (see UCSC for wiggle spec); and a walker to take in a variant track and create a transition transversion rate track for the whole genome (due to the wiggle spec, this has to be done by chromosome). It's interesting to see the effect of genes!
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2010-07-21 18:04:30 +00:00
depristo f7957bc7f2 Fixed memory leak in VariantEval
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2010-07-21 12:35:46 +00:00
aaron 1cba81c16f updates to tribble with fixes for some bugs I've found in some new indexing code.
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2010-07-20 22:08:04 +00:00
ebanks ff6748d1cd oops - missed one
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2010-07-20 18:55:19 +00:00
ebanks c6ad26e04f 1) When quals/GQs are really integers (x.00), strip off the floating points.
2) Keep track of whether vcf records are unfiltered vs. pass filters in the variant context so we can regenerate the records on output.
3) No more "ID" hard-coded all over the code to set the VariantContext ID.  Use a static variable instead.



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2010-07-20 18:01:45 +00:00
ebanks 0db7fab1a9 Fixing genotype filtering for VF and adding integration tests
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2010-07-20 07:30:21 +00:00
aaron 2a6c2d3098 re-enable test; I was moving the input file in prep for my last commit around on Eric, so he rightfully removed the test
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2010-07-20 07:14:59 +00:00
aaron 0108517b98 updating the Tribble track loading code to use the new shared locks, updated lots of new tests, add infrastructure for the TreeInterval, and removed the old locking class.
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2010-07-20 07:08:10 +00:00
ebanks f742980864 1. Refactoring of GenoypeWriters so that parallelization now works again with VCF4.0. We now have just a single reference to the old VCF classes, and that one will be purged soon.
2. Moved Jared's VCFTool code into archive so that everything would compile.
3. Added the vcf reference base (needed for indels) as an attribute to the VariantContext from the reader.
4. TribbleRMDTrackBuilderUnitTest was complaining that a validation file didn'r exist, so I commented it out.



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2010-07-20 06:16:45 +00:00
depristo 70b07206a2 CombineVariants tests for Guillermo and Eric to explore the correctness of the in/out reader, writer behavior of the system.
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2010-07-19 22:41:48 +00:00
depristo c47a5ff5ab Official parallel CountCovariates, passes all integration tests. Now poster-child example of parallelism in GATK (Matt H). Apparent general performance improvements throughout too.
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2010-07-19 22:13:18 +00:00
rpoplin 0b56003d1a Remove stray commented out line
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2010-07-19 19:14:39 +00:00
rpoplin 8e31c01680 Solid processing in base quality recalibrator now has several options for how to handle no calls in the color space. --ignore_nocall_colorspace is removed and replace by --solid_nocall_strategy. Fixed some of the @Deprecated tags in BaseUtils. LocusWalkers now filter out FailsVendorQualityCheck reads. HLA caller integration test bam file had bad vendor reads so its integration test changed.
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2010-07-19 19:10:29 +00:00
aaron 18b0114e25 remove FixBAMSortOrder walker.
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2010-07-19 17:27:23 +00:00
aaron f4cfb0f990 The first step in integrating Jim's tree based index scheme:
- changed to a better method for getting headers from Codecs
- some removal of old commented out code in the GATKAgrumentCollection
- changes for the rename of FeatureReader to FeatureSource
- removed the old Beagle ROD
- cleaned up some of the code in SampleUtils

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2010-07-19 04:49:27 +00:00
hanna 40a963541d Uniquify the registered MXBean by adding an instanceNumber=... tag to the
ObjectName.  In the Queue-enabled future, we might want to come up with GUIDs
(or at least semi-unique IDs) so that we could use JMX to track runtime
attributes for multiple jobs running simultaneously.


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2010-07-19 00:58:54 +00:00
ebanks 5a1a3fc79a Fix bad VariantContext creation in unit test
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2010-07-18 20:21:01 +00:00
depristo 7c42e6994f FindBugs fixes throughout the code base
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2010-07-18 16:29:59 +00:00
ebanks 693672a461 Refactoring the VCF writer code; now no longer uses VCFRecord or any of its related classes, instead writing directly to the writer. Integration tests pass, but some are actually broken and will be fixed this week.
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2010-07-18 13:19:56 +00:00
ebanks 379584f1bf Re-enable (most of) these tests. Guillermo will re-enable the other one when the VCF->VC conversion is done for indels
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2010-07-18 03:24:28 +00:00
ebanks 982947d328 update to deal with partial indels (I/D with no bases) in the HM records
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2010-07-18 02:56:37 +00:00
depristo 414ec6f20a Removing version argument constructors that shouldn't be used. Temporary allow -- with global variant to indicate this should be removed -- header records without description fields. Real error checking in the headers.
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2010-07-17 22:30:08 +00:00
depristo 14b21e487b always 4.0
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2010-07-17 22:28:48 +00:00
depristo d40299840c indenting clean up
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2010-07-17 22:28:28 +00:00
hanna 9207c58b8f A fix for the integration test I broke on Friday on my way out the door --
some workflows using AlignmentContext were working with it in a way I didn't
expect and wound up treating extended pileups as base pileups.  I'll work to
make sure the AlignmentContext interface is crystal clear.


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2010-07-17 22:22:44 +00:00
delangel 55b756f1cc First step in major cleanup/redo of VCF functionality. Specifically, now:
a) VCF track name can work again with 3.3 or 4.0 VCF's when specifying -B name,VCF,file. Code will read header and parse automatically the version. 
b) Old VCF codec is deprecated. Reader goes now direct from parsing VCF lines into producing VariantContext objects, with no intermediate VCF records. If anyone can't resist the urge to still input files using the old method, a new VCF3Codec is in place with the old code, but it will be eventually deleted.
c) VCF headers and VCF info fields no longer keep track of the version. They are parsed into an internal representation and will be output only in VCF4.0 format.
d) As a consequence, the existing GATK bug where files are produced with VCF4 body but VCF3.3 headers is solved.
e) Several VCF 4.0 writer bugs are now solved.
f) Integration test MD5's are changed, mostly because of corrected VCF4.0 headers and because validation data mostly uses now VCF4.0.
g) Several VCF files in the ValidationData/ directory have been converted to VCF 4.0 format. I kept the old versions, and the new versions have a .vcf4 extension.

Pending issues:
a) We are still not dealing with indels consistently or correctly when representing them. This will be a second part of the changes.
b) The VCF writer doesn't use VCFRecord but it does still use a lot of leftovers like VCFGenotypeEncoding, VCFGenotypeRecord, etc. This needs to be simplified and cleaned.



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2010-07-16 22:49:16 +00:00
chartl 75bea4881a Modified SampleFilter to allow for multiple samples to be given. AminoAcidTransition now turns on when you give VariantEval the right commands.
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2010-07-16 21:27:32 +00:00
aaron 36ac73cf9a comment out broken test until it can be fixed.
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2010-07-16 20:04:40 +00:00
hanna 96034aee0e Cleanup for Steve Hershman's issue. In the midst of doing this, I discovered
that the semantics for which reads are in an extended event pileup are not
clear at this point.  Eric and I have planned a future clarification for this
and the two of us will discuss who will implement this clarification and when
it'll happen.


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2010-07-16 18:57:58 +00:00
asivache 6aedede7f3 Added Type.MNP to allowed variant context types; this does not break the tests (yet)
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2010-07-16 15:50:25 +00:00
asivache 1dd8a28a5d Added new query: isMNP(feature); returns true if dbsnp feature is multi-nucleotide polymorfism (e.g. a di-nuc TA ->CC)
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2010-07-16 15:32:10 +00:00
aaron ec94cfdf05 remove unit test for VCF writer, it's not applicable now that we produce only VCF4. Guillermo, it's up to you if you want to adapt this or remove it.
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2010-07-16 14:33:25 +00:00
depristo b29eda83bb Parallelized CountCovarites! percent_ref_called_var now a standard genotype concordance module (for validation!). Really much smarter merging of headers for combineVariants. VCF codecs now actually look at the file version and blow up if they are the wrong versions. setHeaderVersion() in VCFHeaderLine.
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2010-07-16 14:10:18 +00:00
ebanks f293eb7de1 Fix for Kim: for some ungodly reason, I was initializing the bins that were maintaining counts to 1 instead of 0.
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2010-07-16 03:40:29 +00:00
ebanks e7e58d7129 The SAM spec has now officially reserved my new tags for original cigar and original alignment start... except that OS has been named OP ('original POS')
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2010-07-16 00:09:36 +00:00
ebanks ab84ed8c68 Fix for Mark: get rid of old program tags whose IDs clash with the recalibrator/realigner tag (including if the id has a .1 at the end, etc.). Keeping them around is dangerous because we don't know which one refers to the latest run of the tool on the bam.
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2010-07-15 19:13:50 +00:00
hanna dfddf8fd75 - Bring the PaperGenotyper up to code.
- Remove some old debugging cruft regarding handling of threaded engine exceptions.


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2010-07-14 22:31:21 +00:00
bthomas f65cba6b9a Adding support for shared file locking via a new class for file locking, FSLockWithShared. This will eventually take over for FSLock, the current file locking class - I'll work with Aaron to merge the tribble code that uses FSLock right now.
FYI: creating an exclusive lock on a file that does not exist will create that file as an empty file, and will NOT delete that file after the program terminates. So watch out if it's possible that the file you're locking does not exist - could end up leaving extra files that confuse users.  



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2010-07-14 20:45:51 +00:00
hanna a8caa20378 Previously the hierarchical microscheduler defensively coded around and reported exceptions of
the walker itself, but didn't do a great job of catching framework exceptions.  This became extremely
unfortunate in the case where walkers caused exceptions that manifested themselves in the framework,
such as when the walker opens more files than file handles are available.

Reworked the exception handling so that framework errors are treated like walker errors and the resulting
exception bubbles out of the walker.  Stack traces for threaded walkers are still convoluted and nasty.


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2010-07-14 20:34:43 +00:00
ebanks bf384f48e1 Reverting previous change because it won't always work. More investigation needed.
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2010-07-14 19:13:17 +00:00
ebanks e4bfb06888 Check header type instead of rod type, since rod type will now be VC and not VCF
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2010-07-14 19:10:09 +00:00
ebanks 0226412b11 Add GQ to list of genotype attributes for reg exp
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2010-07-14 19:01:11 +00:00
ebanks 78a4d8ec3d Removing more references to VCFRecord
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2010-07-14 16:34:15 +00:00
ebanks af23762778 Removing more references to VCFRecord
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2010-07-14 11:54:23 +00:00
ebanks a4f8d70d8d oops, forgot to update this integration test
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2010-07-14 11:38:33 +00:00
ebanks 460283f6d2 No more manually converting VariantContexts to VCFRecords. You should be utilizing VCs and not VCFRecords.
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2010-07-14 05:21:28 +00:00
ebanks 6b5c88d4d6 The GATK no longer writes vcf3.3; welcome to the world of vcf4.0. Needed to fix a few output bugs to get this to work, but it's looking great. Much more still to come. Guillermo: hopefully this doesn't break your local build too badly.
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2010-07-14 04:56:58 +00:00
chartl 9d2a485532 Update to AminoAcidTransition eval module
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2010-07-13 17:12:03 +00:00
rpoplin 3db7fbb5e9 Fix for added EOF in csv file
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2010-07-13 16:09:48 +00:00
ebanks 9a05e8143d Move to 4.0 and away from VCFRecord.
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2010-07-13 15:54:54 +00:00
ebanks 6442dabf94 Deleting/archiving as instructed
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2010-07-13 15:23:50 +00:00
ebanks 7e7da75d27 Moving over to 4.0 and away from VCFRecord
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2010-07-13 14:07:10 +00:00
ebanks d896d03554 Moving VF to vcf 4.0. Still need to fix genotype filters.
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2010-07-13 11:39:51 +00:00
ebanks 76b3b39720 Technically, Mark broke this with his commit earlier. But since I had an outstanding broken test, I lose and have to fix this one too...
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2010-07-13 03:58:38 +00:00
ebanks 1bef7dd170 git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3775 348d0f76-0448-11de-a6fe-93d51630548a 2010-07-13 00:56:12 +00:00
depristo de969f7cc7 logger != null check
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2010-07-12 23:07:14 +00:00
depristo 2e445262f2 Promotion to . for variable numbers of arguments
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2010-07-12 22:53:53 +00:00
delangel 297f15a60c Protect ProduceBeagleInputWalker against evil users who feed to it VCF's with indels, no variation sites or other interesting markers: Write to Beagle input only in biallelic SNP sites since that's the only thing Beagle can do.
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2010-07-12 20:54:42 +00:00
ebanks 52c534a8f2 Updating to VCF 4.0
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2010-07-12 20:18:30 +00:00
delangel 5992b79159 a) Simplify normalization code in ProduceBeagleInputWalker, as to always normalize, and use MathUtils.normalizeFromLog10 to do this.
b) Several improvements to BeagleOutputToVCFWalker:
1. If a Hapmap input track is provided (e.g. -B comp,VCF,file), Hapmap sites will be annotated with Hapmap Allele count and allele frequency (key ACH, AFH).
2. If probability of correct genotype is lower than ncthr (optional argument provided by user, default = 0.0), walker will keep original calls instead of using Beagle calls.
3. Instead of annotating just whether Beagle had modified a site, annotate instead HOW MANY genotypes in a site were actually changed by Beagle.

All three improvements are mostly for debugging and analysis only.



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2010-07-12 19:54:58 +00:00
ebanks e50627a49e 1. Updated tests and added integration test for liftover code.
2. Updated liftover code (and scripts) to emit vcf 4.0 and no longer depend on VCFRecord.
3. Beagle walker now also emits vcf 4.0.



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2010-07-12 17:58:18 +00:00
ebanks 2a7112302a More archiving
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2010-07-12 17:04:41 +00:00
ebanks 221e01fb27 deleting/archiving as instructed
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2010-07-12 16:59:45 +00:00
ebanks 8086ab1f75 Pulled sample/header merging routines out of CombineVariants and into util classes. Added more generalized methods for retrieving samples. Updated the Beagle walkers to use these methods.
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2010-07-12 16:51:54 +00:00
ebanks 0c4a32843c No longer uses VCFRecord
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2010-07-12 13:57:39 +00:00
ebanks f130d29318 No longer uses VCFRecord.
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2010-07-12 13:34:10 +00:00
ebanks e75b3e13bd updating unit test for previous fix
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2010-07-12 03:23:53 +00:00
ebanks 0427f3554b Bug fix: valid fields were being stripped off the FORMAT for samples because String.match was used instead of String.equals. Also, please use VCFConstants from now on instead of hard-coding e.g. missing values into the code.
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2010-07-12 03:06:51 +00:00
ebanks fb717fe128 First pass needed to remove old VCF code: moving all VCF-related constants into a single unified class
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2010-07-11 07:19:16 +00:00
ebanks 6b960bd9c5 Fix for Steve: genotype filters still want to see the values from the VC
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2010-07-11 04:30:15 +00:00
depristo c3c66e853c Improvements for Jason
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2010-07-09 20:18:37 +00:00
ebanks 405be230d0 Various code improvements based on FindBugs
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3755 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-09 15:04:48 +00:00
ebanks abaec13e38 Bug fix: if there are samples in the VCF but all of them are no-calls, we still need to emit GT for the FORMAT field to be on spec. Note that this is a holdover from 3.3 writing but can't easily be fixed there. Fortunately, that code is all going away soon...
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3754 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-09 14:08:25 +00:00
chartl ea8fd506bf Update to PickSequenomProbes: Option to ignore mask sites within X bp of a variant (very useful for indels where dbSNP entries near the indel are almost always false SNP calls). Also fixed an integration test where the variant site itself, being in dbSNP, was represented as [N/C] rather than [A/C]. Added integration test for 1bp no-mask window.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3753 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-09 04:03:19 +00:00
depristo 179067e3f4 Support for . values in qual field
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2010-07-09 01:47:02 +00:00
depristo 45fb614296 Fixes to VE for obscure bug, as well as disabled integration test for CombineVariants
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2010-07-09 00:13:07 +00:00
rpoplin 67f1589652 --fdr_filter_level isn't mandatory
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2010-07-08 22:48:30 +00:00
rpoplin 5d39cd5db8 Added --fdr_filter_level to ApplyVariantCuts so that you can create beautiful tranche plots and also decide which tranche level to filter at. The previous version always filtered at the smallest tranche. The tranche filter names are appropriately added to the VCF header.
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2010-07-08 22:44:10 +00:00
depristo 760aaeda88 Update to CombineVariants. Now splits merge options into variant and genotype options separately.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3746 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-08 20:09:48 +00:00
ebanks bd2ba3eb37 deal with very large known indels that fall off our ref context
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2010-07-08 20:05:16 +00:00
aaron 12fecc8d8f remove the picard DbSNP ROD.
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2010-07-08 17:46:00 +00:00
depristo 56a0c7ee6f All headers are now converted to VCF4 by default.
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2010-07-08 14:14:17 +00:00
ebanks 6e6ad36523 reallow MNP events through
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2010-07-08 06:26:52 +00:00
ebanks ed0d0d78fa corresponding fix for dealing with insertions
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2010-07-08 05:25:03 +00:00
ebanks ada8c9931f We were never clipping the VCF-provided ref base off the left end of the alleles for insertions, so the reference allele was never null (and downstream walkers would fail). Didn't this get tested with insertions at some point?
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2010-07-08 05:24:27 +00:00
ebanks 9a81f1d7ef Fixed this tool for chartl so that it now properly handles deletions. Added deletion case to integration tests.
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2010-07-08 04:45:59 +00:00
ebanks 47a42b1507 trivial cleanup
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2010-07-08 04:42:32 +00:00
ebanks b7a3d1e61f Bug fix: if the FORMAT field consisted of just GT, we were exceptioning out. How did we not catch this until now?
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2010-07-08 04:41:40 +00:00
ebanks 1c146aebe8 Fix logic bug
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2010-07-08 04:32:46 +00:00
hanna 9fc05ac2ae eagerDecode is now false.
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2010-07-07 22:51:48 +00:00
ebanks 4bc3ad2194 Shame on me: UG was emitting negative QUALs (-0) in all_bases mode. Thanks, Matt.
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2010-07-07 20:30:22 +00:00
ebanks 30714ec8d9 As per quick chat with Richard Durban, don't increase the mapping quality of realigned reads too much; for now, arbitrarily increase the MQ by 10. We need to figure out a better solution.
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2010-07-07 20:12:59 +00:00
ebanks 8ff1a4b929 Don't try to clean reads that fail the PF, in preparation for Ryan
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2010-07-07 19:49:36 +00:00
depristo b934cc7554 Updates to fix some bugs in merger. Now able to merge into project wide indel VCF files. Integration teests coming tomorrow
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2010-07-07 03:16:33 +00:00
kshakir 7be8c35eb2 Workaround for scala trait erasing parameterized types:
- Requiring explicit @ClassType on parameterized fields in traits.
- Scatter / Gather functions are now abstract classes since @ClassType can't be used on parameterized fields with type parameters.

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2010-07-07 03:15:10 +00:00
hanna 120f90da5b Interval support for ref walkers while streaming.
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2010-07-07 03:14:59 +00:00
hanna 773a72e6ea An initial fix for performance issues when filtering UG with new StratifiedAlignmentContext.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3724 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-07 01:07:46 +00:00
delangel be75b087ec a) Add input argument (-ncrate) to BeagleOutputToVCFWalker. If the genotype posterior error probability is higher than this threshold, we declare No-call at this genotype.
b) Add "OG" annotation to genotypes. If Beagle changes genotypes, this annotation gets the original genotype call, to ease performance  comparisons. If not, this annotation gets an empty value.



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2010-07-06 18:33:28 +00:00
hanna 4213e05aeb Fix for sharding ref walkers via monolithic sharding. Introduces the potential bug (for
monolithic sharding only) that when traversing by read, map() function will not be called for loci
off the end of the reference.


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2010-07-06 04:34:38 +00:00
aaron 86031f4034 part two: todo's in combine variants, fixes for InferredGeneticContext, and some other tests and clean-up.
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2010-07-05 21:07:53 +00:00
ebanks 36edc60ccc Connected UG to the new comp track annotation system in VA. Also, when emit confidence is lower than call confidence (so that we emit records filtered with LowQual), add a corresponding FILTER header field to the VCF so that the validator doesn't complain.
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2010-07-05 13:04:24 +00:00
aaron 3347d1ca7c part one of combining format and info header lines code into a single abstract class for Mark; plus some 'm' removals from access methods for Eric. Adding fixes for CombineVariants next.
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2010-07-05 05:57:58 +00:00
ebanks e7220bc885 Variant Context simple merging routine should keep ID if one of the VCs has it
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2010-07-05 01:10:15 +00:00
delangel 3016e1cf80 Fixes to increase robustness in vcf4 writer. We assume that only at most 1 base was clipped from beginning of allele encoding by reader, and improve the way we find if bases were clipped. We still cant deal with some corner cases, and duplicate records may follow, for example if a snp location is followed at the next base by an indel. Also, if we are reading form a 3.3 vcf and the reference is null (ie we have an insertion), the reference base is not computed correctly.
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2010-07-04 20:22:04 +00:00
ebanks 07945040f8 Set VariantFiltration's JEXL engine to silent for warning messages
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2010-07-04 18:11:19 +00:00
ebanks be8740b00d Another edge case in left alignment for indels: deal with cases when insertions are ambiguously placed at ends of reads
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2010-07-04 17:26:38 +00:00
weisburd 9ec393bfce Updated md5 - vcf header line change
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2010-07-02 21:02:09 +00:00
weisburd f7593435eb Implemented decodeLoc(..)
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2010-07-02 21:01:36 +00:00
depristo cd2e4b0a1e merging now very close to working. Bug todo in writer and vcf infrastructure. Can almost create merged snp and indel files
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3712 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-02 20:09:25 +00:00
delangel b6bdd61283 a) Fix bug when multi-base reference is homopolymeric when writing a VCF4.0 variant context: computation of number of trailing bases was incorrect and we ended up with incorrect position.
b) Updated VCF4WriterTestWalker to take either VCF3 or VCF4 as inputs (this walker can also be used to convert from 3.3 to 4.0).
 


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2010-07-02 15:19:42 +00:00
depristo 61e2b2e39b Nearly finalize merging capabilities for CombineVariants. Support for dealing with inconsistent indel alleles at loci. Improvements to Allele and removal of addAllele to MutableGenotype. We are close to being able to merge all of 1000 genomes -- snps and indels -- into a single combined vcf
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3710 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-02 13:32:33 +00:00
hanna cab8394103 The sharding system now buffers reads, with a size determined by command-line argument. Will investigate whether/how this
impacts performance on low-pass data and, if it works well, will create a more automatic version of the tool.


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2010-07-01 22:28:55 +00:00
aaron f967cae1aa tiny comment change
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2010-07-01 22:04:25 +00:00
aaron 3093a20a55 fixing VCF header format and info fields so that they propery emit the unbounded count value correctly for vcf4 or vcf3. Eric we should update the vcf4 spec page to indicate format fields are allowed to use the unbounded count as well (if this is true).
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2010-07-01 22:02:16 +00:00
delangel 61c07c6f90 Fixes for missing key values that can create null pointer exceptions when reading from 3.3-generated variant contexts. Also, chop missing genotype fields correctly from right to left
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3706 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-01 20:17:03 +00:00
rpoplin 255b036fb5 Variant Recalibrator MLE EM algorithm is moved over to variational Bayes EM in order to eliminate problems with singularities when clustering in higher than two dimensions. Because of this there is no longer a number of Gaussians parameter. Wiki will be updated shortly with new recommended command.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3704 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-01 18:51:07 +00:00
aaron 4903d1fb4f fix for a parallelization issue: moving the creation of iterators outside of the sync block so we don't wait for RMD tracks to seek to the correct location. Thanks to Ben for providing the test case!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3703 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-01 16:37:02 +00:00
aaron 43ca595d15 VCF headers now can be set to a particular VCF version after creation, which converts the header lines to the appropriate encoding on output. Plus some clean-up of the code.
Also commented out the Tribble index out-of-date tests, the timing seems to be troublesome from the farm.

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2010-07-01 05:32:14 +00:00
hanna 4995950d04 IndexedFastaSequenceFile is now in Picard; transitioning to that implementation.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3701 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-01 04:40:31 +00:00
hanna c9d5345150 Redo StratifiedAlignmentContext to use ReadBackedPileup's stratification options.
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2010-07-01 02:46:05 +00:00
delangel dc4715c9c6 Permit empty fields in INFO and FORMAT structures - not fully tested yet but at least failing cases before now pass. Also, corrected a bug where in case we were reading 3.3 VCF's, or VCFs with no original allele encodings, we'd always print 2 bases per allele.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3698 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-01 01:56:07 +00:00
depristo 5f2b2d860e Final stage of renaming
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2010-06-30 21:39:07 +00:00
depristo 6e7927a47d Continuing the renaming nightmare...
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2010-06-30 20:25:01 +00:00
depristo 9d7d5f1747 Continuing the renaming nightmare...
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2010-06-30 20:24:27 +00:00
depristo aa20c52b88 deleting vcf
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3693 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-30 20:19:15 +00:00
depristo 4195fc5c4e renaming part 2...
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3692 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-30 20:18:11 +00:00
depristo 6c9da5525d renaming starting
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3691 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-30 20:16:51 +00:00
depristo b8d6a95e7a Preliminary commit of new VCFCombine, soon to be called CombineVariants (next commit) that support merging any number of VCF files via a general VC merge routine that support prioritization and merging of samples! It's now possible to merge the pilot1/2/3 call sets into a single (monster) VCF taking genotypes from pilot2, then pilot3, then pilot1 as needed.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3690 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-30 20:13:03 +00:00
kshakir 178cf64a0c Refactored ArgumentDefinition to absorb functionality from ArgumentDefinition and ArgumentTypeDescriptor.
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2010-06-30 18:37:58 +00:00
chartl 569456850d Mark pointed out there's differentiation in the filter field. Rolling back.
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2010-06-30 17:05:53 +00:00
chartl 52a474b27d Fixed an issue with VCF combine in sites like the following:
Broad: Filtered     BC: No call

These were being treated the same as

Broad: Call         BC: No call

Added some verbosity to separate them.




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2010-06-30 16:49:31 +00:00
ebanks 944dbb94ce Refactored and generalized the database/comp annotations in VariantAnnotator. Now one can provide comp tracks as with VariantEval (e.g. compHapMap, comp1KG_CEU) and the INFO field will be annotated with the track name (without the 'comp') if the variant record overlaps a comp site (e.g. ...;1KG_CEU;...). This means that you can now pass 1kg calls to the Unified Genotyper and automatically have records annotated with their presence in 1kg.
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2010-06-30 16:37:31 +00:00
ebanks 47c4a70ac1 It turns out that it is legitimately possible for there to be reads that won't overlap within a target interval for cleaning. While we don't want to attempt cleaning, we also don't want to fail.
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2010-06-30 15:50:44 +00:00
ebanks ae33d8a2f2 I just wanted one more vote. It's settled: we die.
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2010-06-30 14:00:56 +00:00
ebanks 8fb37f5f7a For Kiran: warn the user when the actual and vcf ref bases differ so that if an exception is generated later, he knows why. All: should we generate the actual exception here? Is there any reason to allow cases where the vcf record has a different ref base than the actual reference? I'd vote that we die here. Thoughts?
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2010-06-30 13:56:16 +00:00