Eric Banks
9d1a19bbaa
Multi-allelic indels were not being printed out correctly in VariantsToTable; fixed.
2012-02-06 22:49:29 -05:00
Mauricio Carneiro
5961868a7f
fixup for BQSR (HC integration tests)
...
In the new BQSR implementation, covariates do depend on the RecalibrationArgumentCollection.
2012-02-06 22:47:27 -05:00
Mauricio Carneiro
6e6f0f10e1
BaseQualityScoreRecalibration walker (bqsr v2) first commit includes
...
* Adding the context covariate standard in both modes (including old CountCovariates) with parameters
* Updating all covariates and modules to use GATKSAMRecord throughout the code.
* BQSR now processes indels in the pileup (but doesn't do anything with them yet)
2012-02-06 17:38:29 -05:00
Eric Banks
0717c79901
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-02-06 16:23:36 -05:00
Eric Banks
91897f5fe7
Transpose rows/cols in AF table to make it molten (so I can plot easily in R)
2012-02-06 16:23:32 -05:00
Guillermo del Angel
fb5786385c
Merged bug fix from Stable into Unstable
2012-02-06 13:22:56 -05:00
Guillermo del Angel
6ec686b877
Complement to previous commit: make sure we also don't inherit filter from input VCF when genotyping at an empty site
2012-02-06 13:19:26 -05:00
Guillermo del Angel
93ffca1e3a
Merged bug fix from Stable into Unstable
2012-02-06 11:58:58 -05:00
Guillermo del Angel
827be878b4
Bug fix when running UG in GenotypeGivenAlleles mode: if an input site to genotype had no coverage, the output VCF had AC,AF and AN inherited from input VCF, which could have nothing to do with given BAM so numbers could be non-sensical. Now new vc has clear attributes instead of attributes inherited from input VCF.
2012-02-06 11:58:13 -05:00
Eric Banks
fbbd04621d
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-02-06 11:53:31 -05:00
Eric Banks
edb4edc08f
Commented out unused metrics for now
2012-02-06 11:53:15 -05:00
Ryan Poplin
096c23a473
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-02-06 11:10:38 -05:00
Ryan Poplin
dc05b71e39
Updating Covariate interface with Mauricio to include an errorModel parameter. On the fly recalibration of base insertion and base deletion quals is live for the HaplotypeCaller
2012-02-06 11:10:24 -05:00
Guillermo del Angel
1e11408f8b
Merged bug fix from Stable into Unstable
2012-02-06 10:34:26 -05:00
Guillermo del Angel
090d87b48b
Bug fix in ValidationSiteSelector: when input vcf had genotypes and was multiallelic, the parsing of the AF/AC fields was wrong. Better logic to unify parsing of field
2012-02-06 10:33:12 -05:00
Eric Banks
9d94f310f1
Break AF histogram into max and min AFs
2012-02-06 09:01:19 -05:00
Ryan Poplin
b7ffd144e8
Cleaning up the covariate classes and removing unused code from the bqsr optimizations in 2009.
2012-02-06 08:54:42 -05:00
Eric Banks
cef550903e
Minor optimization
2012-02-06 00:48:00 -05:00
Ryan Poplin
5343f8ba67
Initial version of on-the-fly, lazy loading base quality score recalibration. It isn't completely hooked up yet but I'm committing so Mauricio and Mark can see how I envision it will fit together. Look it over and give any feedback. With the exception of the Solid specific code we are very very close to being able to remove TableRecalibrationWalker from the code base and just replace it with PrintReads -BQSR recal.csv
2012-02-05 13:09:03 -05:00
Ryan Poplin
f94d547e97
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-02-03 17:14:20 -05:00
Ryan Poplin
894d3340be
Active Region Traversal should use GATKSAMRecords everywhere instead of SAMRecords. misc cleanup.
2012-02-03 17:13:52 -05:00
Mauricio Carneiro
4a57add6d0
First implementation of DiagnoseTargets
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* calculates and interprets the coverage of a given interval track
* allows to expand intervals by specified number of bases
* classifies targets as CALLABLE, LOW_COVERAGE, EXCESSIVE_COVERAGE and POOR_QUALITY.
* outputs text file for now (testing purposes only), soon to be VCF.
* filters are overly aggressive for now.
2012-02-03 17:12:43 -05:00
Mauricio Carneiro
3dd6a1f962
Adding some generic sum and average functions to MathUtils
2012-02-03 17:12:43 -05:00
Mauricio Carneiro
e1d69e4060
make the size of a GenomeLoc int instead of long
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it will never be bigger than an int and it's actually useful to be an int so we can use it as parameters to array/list/hash size creation.
2012-02-03 17:12:42 -05:00
Ryan Poplin
0e44430e47
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-02-03 13:45:11 -05:00
Christopher Hartl
aa3638ecb3
Merge branch 'master' of ssh://chartl@ni.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-02-03 13:42:09 -05:00
Eric Banks
3abfbcbcf2
Generalized the TDT for multi-allelic events
2012-02-03 12:23:21 -05:00
Ryan Poplin
601e53d633
Fix when specifying preset active regions with -AR argument
2012-02-02 16:34:26 -05:00
Christopher Hartl
0111505ea9
Terrible. Swapping the paternal and sample ids.
2012-02-02 11:41:16 -05:00
Ryan Poplin
1f50f6970b
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-02-02 10:17:13 -05:00
Ryan Poplin
4ed06801a7
Updating HaplotypeCaller's HMM calc to use GOP as a function of the read instead of a function of the haplotype in preparation for IQSR
2012-02-02 10:17:04 -05:00
Matt Hanna
8adfc79123
Merged bug fix from Stable into Unstable
2012-02-01 16:07:41 -05:00
Matt Hanna
30b937d2af
Fix bug discovered in FGTP branch in which BlockInputStream returns -1 in cases where some data could be read,
...
but not all the data requested by the caller.
2012-02-01 16:06:22 -05:00
Mauricio Carneiro
45da892ecc
Better exceptions to catch malformed reads
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* throw exceptions in LocusIteratorByState when hitting reads starting or ending with deletions
2012-02-01 11:56:19 -05:00
Christopher Hartl
810996cfca
Introducing: VariantsToPed, the world's most annoying walker! And also a busted QScript to run it that I need Khalid's help debugging ( frownie face ). Note that VariantsToPed and PlinkSeq generate the same binary file (up to strand flips...thanks PlinkSeq), so I know it's working properly. Hooray!
2012-02-01 10:39:03 -05:00
Christopher Hartl
25d943f706
Merge branch 'master' of ssh://chartl@ni.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-02-01 10:32:11 -05:00
Ryan Poplin
056b24ccd6
Resolving merge conflicts with LocusIteratorByState
2012-01-31 16:13:32 -05:00
Ryan Poplin
febc634557
Changing PileupElement's isSoftClipped to isNextToSoftClip since soft clipped bases aren't actually added to pileups, oops. Removing the intrinsic clustered variants filter from the HaplotypeCaller
2012-01-31 16:06:14 -05:00
Matt Hanna
7f70612beb
Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-31 11:59:25 -05:00
Matt Hanna
a630db1703
Oops...HierarchicalMicroScheduler was transforming any exception from the walker level into a ReviewedStingException.
...
Thanks to Ryan for pointing this out.
2012-01-31 11:58:21 -05:00
Christopher Hartl
faba3dd530
Merge branch 'master' of ssh://chartl@ni.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-31 10:25:29 -05:00
Mauricio Carneiro
17dbe9a95d
A few cleanups in the LocusIteratorByState
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* No more N's in the extended event pileups
* Only add to the pileup MQ0 counter if the read actually goes into the pileup
2012-01-31 09:40:51 -05:00
Ryan Poplin
f9162ea705
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-30 19:45:19 -05:00
Ryan Poplin
abb91cf26b
Increasing the size of the active regions that are produced by the active probability integrator, more context is needed to call more complex events
2012-01-30 15:36:12 -05:00
Mauricio Carneiro
d5d4fa8a88
Fixed discordance bug reported by Brad Chapman
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discordance now reports discordance between genotypes as well (just like concordance)
2012-01-30 09:50:45 -05:00
Mark DePristo
3164c8dee5
S3 upload now directly creates the XML report in memory and puts that in S3
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-- This is a partial fix for the problem with uploading S3 logs reported by Mauricio. There the problem is that the java.io.tmpdir is not accessible (network just hangs). Because of that the s3 upload fails because the underlying system uses tmpdir for caching, etc. As far as I can tell there's no way around this bug -- you cannot overload the java.io.tmpdir programmatically and even if I could what value would we use? The only solution seems to me is to detect that tmpdir is hanging (how?!) and fail with a meaningful error.
2012-01-29 15:14:58 -05:00
Menachem Fromer
0e17cbbce9
Merged bug fix from Stable into Unstable
2012-01-27 16:03:16 -05:00
Menachem Fromer
a9671b73ca
Fix to permit proper handling of mapping qualities between 128 to 255 (which get converted to byte values of -128 to -1)
2012-01-27 16:01:30 -05:00
Ryan Poplin
f7ac1f4a69
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-27 15:12:55 -05:00
Ryan Poplin
fc08235ff3
Bug fix in active region traversal, locusView.getNext() skips over pileups with zero coverage but still need to count them in the active probability integrator
2012-01-27 15:12:37 -05:00
Mark DePristo
0f2e8400b5
Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-27 10:12:50 -05:00
Mauricio Carneiro
ec9920b04f
Updating the SAM TAG for Original Alignment Start to "OP"
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per Mark's recommendation to reuse the Indel Realigner tag that made it to the SAM spec. The Alignment end tag is still "OE" as there is no official tag to reuse.
2012-01-27 08:51:39 -05:00
Mark DePristo
13d1626f51
Minor improvements in ref QC walker. Unfortunately this doesn't actually catch Chris's error
2012-01-27 08:24:22 -05:00
Mauricio Carneiro
0d4027104f
Reduced reads are now aware of their original alignments
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* Added annotations for reads that had been soft clipped prior to being reduced so that we can later recuperate their original alignments (start and end).
* Tags keep the alignment shifts, not real alignment, for better compression
* Tags are defined in the GATKSAMRecord
* GATKSAMRecord has new functionality to retrieve original alignment start of all reads (trimmed or not) -- getOriginalAlignmentStart() and getOriginalAligmentEnd()
* Updated ReduceReads MD5s accordingly
2012-01-26 17:06:36 -05:00
Eric Banks
07f72516ae
Unsupported platform should be a user error
2012-01-26 16:14:25 -05:00
Ryan Poplin
cdff23269d
HaplotypeCaller now uses insertions and softclipped bases as possible triggers. LocusIteratorByState tags pileup elements with the required info to make this calculation efficient. The days of the extended event pileup are coming to a close.
2012-01-26 15:56:33 -05:00
Christopher Hartl
673ceadd11
While this fix worked for the evaluator module, it could potentially have bad effects in the phasing walkers. Special-case nocalls in the PhasingEvaluator and return AllelePair to previous state.
2012-01-26 13:06:36 -05:00
Christopher Hartl
9c6fda7e15
Yup. I was right.
2012-01-26 12:54:11 -05:00
Christopher Hartl
7d059540a4
Allow segments of genome to be excluded in generating a reference panel. Occasionally targets would contain no variation (typically, in the middle of the centromere), which beagle doesn't particularly like, and errors out rather than producing empty output files. The best way to deal with these is to just exclude the regions on a second-pass, and the remaining bits will be gathered with no additional work.
...
AllelePair is being mean and not telling me what genotype it sees when it finds a non-diploid genotype, but i suspect it's a no-call (".") rather than a no call ("./.").
2012-01-26 12:43:52 -05:00
Ryan Poplin
25532bdc37
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-26 11:43:32 -05:00
Ryan Poplin
390d493049
Updating ActiveRegionWalker interface to output a probability of active status instead of a boolean. Integrator runs a band-pass filter over this probability to produce actual active regions. First version of HaplotypeCaller which decides for itself where to trigger and assembles those regions.
2012-01-26 11:37:08 -05:00
Eric Banks
859dd882c9
Don't make it standard for now
2012-01-26 00:38:16 -05:00
Eric Banks
c5e81be978
Adding pairwise AF table. Not polished at all, but usable none-the-less.
2012-01-26 00:37:06 -05:00
Eric Banks
702a2d768f
Initial version of multi-allelic summary module in VariantEval
2012-01-25 19:42:55 -05:00
Eric Banks
9a60887567
Lost an import in the merge
2012-01-25 19:41:41 -05:00
Eric Banks
cba5f1a8b1
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-25 19:19:03 -05:00
Eric Banks
add6918f32
Cleaner, more efficient way of determining the last dependent set in the queue.
2012-01-25 16:21:10 -05:00
Menachem Fromer
db645a94ca
Added options to make the batch-merger more all-inclusive: keep all indels, SNPs (even filtered ones) but maintain their annotations. Also, VariantContextUtils.simpleMerge can now merge variants of all types using the Hidden non-default enum MultipleAllelesMergeType=MIX_TYPES
2012-01-25 16:10:59 -05:00
Eric Banks
ef335a5812
Better implementation of the fix; PL index is now traversed in order.
2012-01-25 15:15:42 -05:00
Eric Banks
8e2d372ab0
Use remove instead of setting the value to null
2012-01-25 14:41:34 -05:00
Eric Banks
05816955aa
It was possible that we'd clean up a matrix column too early when a dependent column aborted early (with not enough probability mass) because we weren't being smart about the order in which we created dependencies. Fixed.
2012-01-25 14:28:21 -05:00
Eric Banks
2799a1b686
Catch exception for bad type and throw as a TribbleException
2012-01-25 12:15:51 -05:00
Eric Banks
96b62daff3
Minor tweak to the warning message.
2012-01-25 11:55:33 -05:00
Eric Banks
fb863dc6a7
Warn user when trying to run with EMIT_ALL_SITES with indels; better docs for that option.
2012-01-25 11:50:12 -05:00
Eric Banks
e349b4b14b
Allow appending with the dbSNP ID even if a (different) ID is already present for the variant rod.
2012-01-25 11:35:54 -05:00
Eric Banks
ea3d4d60f2
This annotation requires rods and should be annotated as such
2012-01-25 11:35:13 -05:00
Ryan Poplin
bbefe4a272
Added option to be able to write out the active regions to an interval list file
2012-01-25 09:47:06 -05:00
Ryan Poplin
9818c69df6
Can now specify active regions to process at the command line, mainly for debugging purposes
2012-01-25 09:32:52 -05:00
Mauricio Carneiro
ffd61f4c1c
Refactor the Pileup Element with regards to indels
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Eric reported this bug due to the reduced reads failing with an index out of bounds on what we thought was a deletion, but turned out to be a read starting with insertion.
* Refactored PileupElement to distinguish clearly between deletions and read starting with insertion
* Modified ExtendedEventPileup to correctly distinguish elements with deletion when creating new pileups
* Refactored most of the lazyLoadNextAlignment() function of the LocusIteratorByState for clarity and to create clear separation between what is a pileup with a deletion and what's not one. Got rid of many useless if statements.
* Changed the way LocusIteratorByState creates extended event pileups to differentiate between insertions in the beginning of the read and deletions.
* Every deletion now has an offset (start of the event)
* Fixed bug when LocusITeratorByState found a read starting with insertion that happened to be a reduced read.
* Separated the definitions of deletion/insertion (in the beginning of the read) in all UG annotations (and the annotator engine).
* Pileup depth of coverage for a deleted base will now return the average coverage around the deletion.
* Indel ReadPositionRankSum test now uses the deletion true offset from the read, changed all appropriate md5's
* The extra pileup elements now properly read by the Indel mode of the UG made any subsequent call have a different random number and therefore all RankSum tests have slightly different values (in the 10^-3 range). Updated all appropriate md5s after extremely careful inspection -- Thanks Ryan!
phew!
2012-01-24 16:07:21 -05:00
Matt Hanna
c312bd5960
Weirdly, PicardException inherits from SAMException, which means that our specialty code for
...
reporting malformed BAMs was actually misreporting any error that happened in the Picard layer
as a BAM ERROR.
Specifically changing PicardException to report as a ReviewedStingException; we might want to
change it in the future. I'll followup with the Picard team to make sure they really, really
want PicardException to inherit from SAMException.
2012-01-24 15:30:04 -05:00
Mark DePristo
0a3172a9f1
Fix for ref 0 bases for Chris
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-- Disturbingly, fixing this bug doesn't actually cause an test failures.
-- Wrote a new QCRefWalker to actually check in detail that the reference bases coming into the RefWalker are all correct when comparing against a clean uncached load of the contig bases directly.
-- However, I cannot run this tool due to some kind of weird BAM error -- sending this on to Matt
2012-01-24 10:55:09 -05:00
Khalid Shakir
c18beadbdb
Device files like /dev/null are now tracked as special by Queue and are not used to generate .out file paths, scattered into a temporary directory, gathered, deleted, etc.
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Attempted workaround for xdr_resourceInfoReq unsatisfied link during loading of libbat.so.
2012-01-23 16:17:04 -05:00
Mark DePristo
02450e4b12
Merged bug fix from Stable into Unstable
2012-01-23 12:08:39 -05:00
Christopher Hartl
798596257b
Enable the Genotype Phasing Evaluator. Because it didn't have the same argument structure as the base class, update2 of VariantEvaluator was being called, rather than update2 of the actual module.
2012-01-23 10:50:16 -05:00
Mark DePristo
80a4ce0edf
Bugfix for incorrect error messages for missing BAMs and VCFs
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-- Missing BAMs were appearing as StingExceptions
-- Missing VCFs were showing up as CommandLineErrors, but it's clearer for them to be CouldNotReadInputFile exceptions
-- Added integration tests to ensure missing BAMs, VCFs, and -L files are properly thrown as CouldNotReadInputFile exceptions
-- Added path to standard b37 BAM to BaseTest
-- Cleaned up code in SAMDataSource, removing my parallel loading code as this just didn't prove to be useful.
2012-01-23 09:52:07 -05:00
Guillermo del Angel
31d2f04368
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-23 09:23:03 -05:00
Guillermo del Angel
966387ca0b
Next intermediate commit in the pool caller. Lots of bug fixes and now we can emit true vcf's with calls in discovery mode (still of unknown quality) - old validation mode is temporarily broken,will be fixed in next refactoring.
2012-01-23 09:22:31 -05:00
Ryan Poplin
4d6312d4ea
HaplotypeCaller is now an ActiveRegionWalker.
2012-01-22 14:31:01 -05:00
Christopher Hartl
3b1aad4f17
After a minor and abject freakout, alter the T2D script to seek out truth sensitivities between 80 and 100, rather than between 0.8 and 1. Also, don't consider a genotype "changed by beagle" if the initial genotype is a no-call.
2012-01-20 23:43:51 -05:00
Christopher Hartl
9b4f6afa21
Alterations to scripts for better performance. Grid search now expands the sens/spec tradeoff (90 was far too aggressive against hapmap chr20), and 20 max gaussians was too many, and caused errors. For consensus genotypes: remember to gunzip the beagle outputs before converting to VCF. Also, beagle can in fact create 'null' alleles in certain circumstances. I'm not sure what exactly those circumstances are, but those sites should be ignored. When it does, all alleles apear to be set to null, so this should not affect the actual phasing in the output VCF.
2012-01-20 23:07:59 -05:00
Ryan Poplin
4b18786b5d
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-19 22:05:20 -05:00
Ryan Poplin
ace9333068
Active region walkers can now see the reads in a buffer around thier active reigons. This buffer size is specified as a walker annotation. Intervals are internally extended by this buffer size so that the extra reads make their way through the traversal engine but the walker author only needs to see the original interval. Also, several corner case bug fixes in active region traversal.
2012-01-19 22:05:08 -05:00
Menachem Fromer
066da80a3d
Added KEEP_UNCONDTIONAL option which permits even sites with only filtered records to be included as unfiltered sites in the output
2012-01-19 18:19:58 -05:00
Christopher Hartl
7f3ad25b01
Adding a mode to VariantFiltration to invalidate previously-applied filters to allow complete re-filtering of a VCF.
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T2D VQSR: re-calling now done with appropriate quality settings and using BAQ.
2012-01-19 10:54:48 -05:00
Ryan Poplin
7e082c7750
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-19 09:11:23 -05:00
Eric Banks
ab8f499bc3
Annotate with FS even for filtered sites
2012-01-18 22:04:51 -05:00
Guillermo del Angel
b123416c4c
Resolve stale merge changes
2012-01-18 20:56:36 -05:00
Guillermo del Angel
2eb45340e1
Initial, raw, mostly untested version of new pool caller that also does allele discovery. Still needs debugging/refining. Main modification is that there is a new operation mode, set by argument -ALLELE_DISCOVERY_MODE, which if true will determine optimal alt allele at each computable site and will compute AC distribution on it. Current implementation is not working yet if there's more than one pool and it will only output biallelic sites, no functionality for true multi-allelics yet
2012-01-18 20:54:10 -05:00
Ryan Poplin
0268da7560
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-18 09:53:00 -05:00
Ryan Poplin
11982b5a34
We no longer calculate the population-level TDT statistic if there are fewer than 5 trios with full genotype likelihood information. When there is a high degree of missingness the results are skewed or in the worst case come out as NaN.
2012-01-18 09:42:41 -05:00
Mark DePristo
763c81d520
No longer enforce MAX_ALLELE_SIZE in VCF codec
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-- Instead issue a warning when a large (>1MB) record is encountered
-- Optimized ref.getBytes()[i] => (byte)ref.charAt(i), which avoids an implicit O(n) allocation each iteration through computeReverseClipping()
2012-01-18 07:35:11 -05:00
Mark DePristo
0c7865fdb5
UnitTest for reverseAlleleClipping
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-- No code modified yet, just implementing a unit test to ensure correctness of the existing code
2012-01-18 07:35:11 -05:00
Mark DePristo
62801e430a
Bugfix for unnecessary optimization
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-- don't cache the ref bytes
2012-01-17 16:40:26 -05:00
Mark DePristo
f2b0575dee
Detect unreasonably large allele strings (>2^16) and throw an error
...
-- samtools can emit alleles where the ref is 42M Ns and this caused the GATK (via tribble) to hang in several places.
-- Tribble was updated so we actually could read the line properly (rev. to 51 here).
-- Still the parsing algorithms in the GATK aren't happy with such a long allele. Instead of optimizing the code around an improper use case I put in a limit of 2^16 bp for any allele, and throw a meaningful exception when encountered.
2012-01-17 16:40:26 -05:00
Ryan Poplin
8b0ddf0aaf
Adding notes to CountCovariates docs about using interval lists as database of known variation
2012-01-17 16:13:13 -05:00
Matt Hanna
40ebc17437
Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-17 14:49:17 -05:00
Matt Hanna
41d70abe4e
At chartl's request, add the bwa aln -N and bwa aln -m parameters to the bindings.
2012-01-17 14:47:53 -05:00
Ryan Poplin
ae259f81cc
Bug fixing for merging of read fragments when one fragment contained an indel
2012-01-17 14:39:27 -05:00
Christopher Hartl
cde224746f
Bait Redesign supports baits that overlap, by picking only the start of intervals.
...
CalibrateGenotypeLikelihoods supports using an external VCF as input for genotype likelihoods. Currently can be a per-sample VCF, but has un-implemented methods for allowing a read-group VCF to be used.
Removed the old constrained genotyping code from UGE -- the trellis calculated is exactly the same as that done in the MLE AC estimate; so we should just re-use that one.
2012-01-17 13:51:05 -05:00
Ryan Poplin
8e23c98dd9
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-17 13:46:28 -05:00
Matt Hanna
32ccde374b
Merged bug fix from Stable into Unstable
2012-01-17 11:08:35 -05:00
Matt Hanna
3ba918aff1
Error message cleanup in BAM indexing code.
2012-01-17 11:05:42 -05:00
Mauricio Carneiro
cec7107762
Better location for the downsampling of reads in PrintReads
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* using the filter() instead of map() makes for a cleaner walker.
* renaming the unit tests to make more sense with the other unit and integration tests
2012-01-14 14:06:09 -05:00
Mark DePristo
b06074d6e7
Updated SortingVCFWriterBase to use PriorityBlockingQueue so that the class is thread-safe
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-- Uses PriorityBlockingQueue instead of PriorityQueue
-- synchronized keywords added to all key functions that modify internal state
Note that this hasn't been tested extensivesly. Based on report:
http://getsatisfaction.com/gsa/topics/missing_loci_output_in_multi_thread_mode_when_implement_sortingvcfwriterbase?utm_content=topic_link&utm_medium=email&utm_source=new_topic
2012-01-13 09:33:16 -05:00
Mauricio Carneiro
28aa353501
Added "unbiased" downsampling parameter to PrintReads
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* also cleaned up and updated part of the unit tests for print reads. Needs a more thorough cleaning.
2012-01-12 16:33:55 -05:00
Matt Hanna
2c3176eb80
Merged bug fix from Stable into Unstable
2012-01-12 13:31:10 -05:00
Matt Hanna
cd43f016ce
Fixed NPE in getNextOverlappingBAMScheduleEntry() when mixed mapped/unmapped interval lists are used. Added integrationtest to verify behavior.
2012-01-12 13:29:11 -05:00
Eric Banks
ed34b4f088
Merge branch 'master' of ssh://gsa1.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-12 10:27:26 -05:00
Eric Banks
e7fe9910f7
Create the temp storage for calculating cell values just once as per Mark's TODO
2012-01-12 10:27:10 -05:00
Eric Banks
f5f5ed5dcd
Don't initialize the cell conformation values (use an else in the loop instead) as per Mark's TODO
2012-01-12 08:50:03 -05:00
Eric Banks
410a340ef5
Swapping the iteration order to run over AF conformations and then samples instead of the reverse minimizes calls to HashMap.get; instead of it being O(n) since we called it for each sample it's now O(1). Runtime on T2D GENES test set is reduced by 5-10%. More optimizations to follow.
2012-01-12 02:04:03 -05:00
Mauricio Carneiro
77a03c9709
Patching special case in the adaptor clipping
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* if the adaptor boundary is more than MAXIMUM_ADAPTOR_SIZE bases away from the read, then let's not clip anything and consider the fragment to be undetermined for this read pair.
* updated md5's accordingly
2012-01-11 17:47:44 -05:00
Eric Banks
25d0d53d88
Moving the approximate summing of log10 vals to MathUtils; keeping the more efficient implementation of fast rounding.
2012-01-10 12:38:47 -05:00
Eric Banks
589397d611
Merge branch 'master' of ssh://gsa1.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-10 12:36:48 -05:00
Matt Hanna
e923a2e512
Revving Picard to incorporate final version of ReadWalker performance improvements.
2012-01-10 12:12:33 -05:00
Eric Banks
0f36f6947e
Resolving merge conflicts
2012-01-10 11:44:16 -05:00
Eric Banks
f2cecce10f
Much better implementation of the approximate summing of an array of log10 values (including more efficient rounding). Now effectively takes 0% of UG runtime on T2D GENES (as opposed to 11% previously).
2012-01-10 11:34:23 -05:00
Matt Hanna
509c3d87b0
Merged bug fix from Stable into Unstable
2012-01-09 23:08:46 -05:00
Matt Hanna
dc60757b68
Eliminate unnecessary strong references (and therefore memory held) by tree reduce entries that have already been processed.
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Thanks to Tim Fennell for the bug report.
2012-01-09 23:04:53 -05:00
Matt Hanna
fda1795791
Merged bug fix from Stable into Unstable
2012-01-08 22:04:44 -05:00
Matt Hanna
1f1233b669
Fix for a rare but insidious bug in position tracking during async BAM file reading.
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Thanks to Khalid for spotting and reporting the issue.
2012-01-08 22:03:35 -05:00
Khalid Shakir
5793625592
No more "Q-<pid>@<host>". Generated log file names now use the first output + ".out" (ex. my.vcf.out) or the name of the first QScript plus the order the function was added (ex. MyScript-1.out). The same function added twice with the same outputs will now have the same default logs, meaning the 2nd instance of the function won't be added to the graph twice.
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QScript accessor to QSettings to specify a default runName and other default function settings.
Because log files are no longer pseudo-random their presense can be used to tell if a job without other file outputs is "done". For now still using the log's .done file in addition to original outputs.
Gathered log files concatenate all log files together into the stdout.
InProcessFunctions now have PrintStreams for stdout and stderr.
Updated ivy to use commons-io 2.1 for copying logs to the stdout PrintStream. Removed snakeyaml.
During graph tracking of outputs the Index files, and now BAM MD5s, are tracked with the gathering of the original file.
In Queue generated wrappers for the GATK the Index and MD5s used for tracking are switched to private scope.
Added more detailed output when running with -l DEBUG.
Simplified graphviz visualization for additional debugging.
Switched usage of the scala class 'List' to the trait 'Seq' (think java.util.ArrayList vs. using the interface java.util.List)
Minor cleanup to build including sending ant gsalib to R's default libloc.
2012-01-08 12:11:55 -05:00
Guillermo del Angel
d4e7655d14
Added ability to call multiallelic indels, if -multiallelic is included in UG arguments. Simple idea: we genotype all alleles with count >= minIndelCnt.
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To support this, refactored code that computes consensus alleles. To ease merging of mulitple alt alleles, we create a single vc for each alt alleles and then use VariantContextUtils.simpleMerge to carry out merging, which takes care of handling all corner conditions already. In order to use this, interface to GenotypeLikelihoodsCalculationModel changed to pass in a GenomeLocParser object (why are these objects to hard to handle??).
More testing is required and feature turned off my default.
2012-01-06 11:24:38 -05:00
Ryan Poplin
616ff8ea01
fixed typo in help text
2012-01-06 10:36:11 -05:00
Mark DePristo
dd80ffbbbe
Merged bug fix from Stable into Unstable
2012-01-05 21:51:48 -05:00
Mark DePristo
c96fee477c
Bug fix for VariantSummary
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-- Call sets with indels > 50 bp in length are tagged as CNVs in the tag (following the 1000 Genomes convention) and were unconditionally checking whether the CNV is already known, by looking at the known cnvs file, which is optional. Fixed. Has the annoying side effect that indels > 50bp in size are not counted as indels, and so are substrated from both the novel and known counts for indels. C'est la vie
-- Added integration test to check for this case, using Mauricio's most recent VCF file for NA12878 which has many large indels. Using this more recent and representative file probably a good idea for more future tests in VE and other tools. File is NA12878.HiSeq.WGS.b37_decoy.indel.recalibrated.vcf in Validation_Data
2012-01-05 21:51:06 -05:00
Eric Banks
f5e10e9879
Merged bug fix from Stable into Unstable
2012-01-05 15:35:09 -05:00
Eric Banks
18ed954741
Compute Ti/Tv only if bi-allelic
2012-01-05 15:33:26 -05:00
Ryan Poplin
a6886a4cc0
Initial commit of the Active Region Traversal. Not ready to be used by anyone yet.
2012-01-04 17:03:21 -05:00
Guillermo del Angel
58d4539304
Enabled banded indel computation by default. Reversed logic in input UG argument so that we can still disable it if required. Minor changes to integration tests due to minor differences in GL's and in annotations
2012-01-04 15:28:26 -05:00
Mauricio Carneiro
9ff8a01da2
Merged bug fix from Stable into Unstable
2012-01-03 18:10:39 -05:00
Mauricio Carneiro
9b55505c03
Fixing PairHMMIndelErrorModel array out of bounds
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This error was due to the ReadClipper change of contract. Before the read utils would return null if a read was entirely clipped, now it returns an empty (safe) GATKSAMRecord.
2012-01-03 18:08:46 -05:00
Christopher Hartl
2c3a9ce02f
Merge branch 'master' of ssh://tin.broadinstitute.org/humgen/gsa-scr1/chartl/dev/unstable
2012-01-03 17:25:56 -05:00
David Roazen
621ee2b613
Merged bug fix from Stable into Unstable
2012-01-03 16:56:49 -05:00
Christopher Hartl
9093de1132
Cleanup: remove code to calculate the MLE AC in the UGE.
2012-01-03 15:58:51 -05:00
Christopher Hartl
2d093828a4
Final changes to Junky (been frozen for a while, but uncommitted) and the qscript for it. A first cursory implementation of the trellis-based Exact AC-constrained genotyping algorithm in UGE. Nothing calls into it, so this should be entirely safe (and, no surprise, it passes UG integration tests).
2012-01-03 15:33:04 -05:00
David Roazen
ea6e718cb8
SnpEff 2.0.5 support. Re-enabled SnpEff in the HybridSelectionPipeline.
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For now, we recommend only running with the GRCh37.64 database.
2012-01-03 15:18:36 -05:00
Christopher Hartl
93e1417b6e
Update to the VSS GATK documentation.
2012-01-03 13:39:31 -05:00
Eric Banks
ab8d47d9a5
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-01-03 09:38:49 -05:00
Mauricio Carneiro
3d4bf273de
Added getPileupForReadGroups to ReadBackPileup
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* returns a pileup for all the read groups provided.
* saves us from multiple calls to getPileup (which is very inefficient)
2012-01-03 09:35:11 -05:00