Commit Graph

696 Commits (dab25afc88e268d1f69867768bfef8762b0b5078)

Author SHA1 Message Date
Mauricio Carneiro e440d0ce69 BQSR triage #4
* fixed queue script plot file names
   * updated the ReadGroupCovariate to use the platform unit instead of sample + lane.
   * fixed plotting of marginalized reported qualities
2012-04-24 17:19:54 -04:00
Mauricio Carneiro e39a59594a BQSR triage and test routines
* updated BQSR queue script for faster turnaround
   * implemented plot generation for scatter/gatherered runs
   * adjusted output file names to be cooperative with the queue script
   * added the recalibration report file to the argument table in the report
   * added ReadCovariates unit test -- guarantees that all the covariates are being generated for every base in the read
   * added RecalibrationReport unit test -- guarantees the integrity of the delta tables
2012-04-23 11:23:00 -04:00
Eric Banks cd63bcb1b8 Fixing unit tests to register the user exception being thrown (instead of the NumberFormatException) 2012-04-23 10:06:51 -04:00
Eric Banks 1f23d99dfa If we are subsetting alleles in the UG (either because there were too many or because some were not polymorphic), then we may need to trim the alleles (because the original VariantContext may have had to pad at the end). Thanks to Ryan for reporting this. Only one of the integration tests had even partially covered this case, so I added one that did. 2012-04-20 17:00:05 -04:00
Eric Banks 4b81c75642 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-20 14:30:19 -04:00
Eric Banks f1c5510ec0 When running SelectVariants with the excludeNonVariants option, remove alleles from the ALT field that are no longer polymorphic. 2012-04-20 14:30:04 -04:00
Ryan Poplin a1596791af Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-20 14:03:04 -04:00
Ryan Poplin a57295eb75 Fixing a bug when breaking up active regions where the resulting regions would overlap by one base. Adding quality score manipulation from the UG into the haplotype caller (qual capped by mapping quality, min qual threshold). 2012-04-20 14:02:55 -04:00
Guillermo del Angel de68363c23 Removed experimental feature (aka hack) that was meant for 1000G consensus but remained in VQSR data manager - QD was being scaled by indel length. There's no evidence any more that QD is length-dependent, neither in CEU trio data nor in latest 1000G P2 calls 2012-04-20 10:58:34 -04:00
Mauricio Carneiro 0f8c77391d BQSR bug triage #3
* fixed context covariate famous "off by one" error
   * reduced maximum quality score to Q50 (following Eric/Ryan's suggestion)
   * remove context downsampling in BQSR R script
2012-04-19 17:31:04 -04:00
Khalid Shakir df5dd841af AC strat now checks if evals will be merged before throwing an error on multiple eval files.
Minor tweaks to WGP script based on new recal VCF format.
2012-04-19 16:08:55 -04:00
Guillermo del Angel 1ae2ab5b63 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-19 12:50:29 -04:00
Guillermo del Angel 02ff930f6a My changes 2012-04-19 12:45:18 -04:00
Mauricio Carneiro eb22cd7222 Unit test to guarantee BQSR sequential calculation accuracy
This test brings together the old and the new BQSR, building a recalibration table using the two separate frameworks and performing the recalibration calculation using the two different frameworks for 10,000+ bases and asserting that the calculations match in every case.
2012-04-19 09:33:40 -04:00
Mauricio Carneiro 68d0211fa1 Improved BQSR plotting and some new parameters
* Refactored CycleCovariate to be a fragment covariate instead of a per read covariate
   * Refactored the CycleCovariateUnitTest to test the pairing information
   * Updated BQSR Integration tests accordingly
   * Made quantization levels parameter not hidden anymore
   * Added hidden option to keep intermediate plotting files for debug purposes (they're automatically deleted)
   * Added hidden option not to generate the plots automatically (important for scatter/gathering)
2012-04-19 09:31:41 -04:00
Guillermo del Angel 143e92b797 Rebasing 2012-04-18 20:05:43 -04:00
Ryan Poplin dcc4871468 minor misc optimizations to PairHMM 2012-04-18 15:02:26 -04:00
Eric Banks 4448a3ea76 Final tweaks. Added an integration test to cover the case of SNPs and indels that start at the same position. 2012-04-17 23:54:10 -04:00
Eric Banks c1f52b773a Minor tweaks and updated integration tests MD5s 2012-04-17 23:17:28 -04:00
Eric Banks ea793d8e27 Khalid pressured me into adding an integration test that makes sure we don't fail on reads with adjacent I and D events. 2012-04-17 21:21:29 -04:00
Mauricio Carneiro f0c81b59b0 Implementation of the new BQSR plotting infrastructure
* removed low quality bases from the recalibration report.
   * refactored the Datum (Recal and Accuracy) class structure
   * created a new plotting csv table for optimized performance with the R script
   * added a datum object that carries the accuracy information (AccuracyDatum) for plotting
   * added mean reported quality score to all covariates
   * added QualityScore as a covariate for plotting purposes
   * added unit test to the key manager to operate with one required covariate and multiple optional covariates
   * integrated the plotting into BQSR (automatically generates the pdf with the recalibration tearsheet)
2012-04-17 19:23:55 -04:00
Khalid Shakir 91cb654791 AggregateMetrics:
- By porting from jython to java now accessible to Queue via automatic extension generation.
- Better handling for problematic sample names by using PicardAggregationUtils.
GATKReportTable looks up keys using arrays instead of dot-separated strings, which is useful when a sample has a period in the name.
CombineVariants has option to suppress the header with the command line, which is now invoked during VCF gathering.
Added SelectHeaders walker for filtering headers for dbGAP submission.
Generated command line for read filters now correctly prefixes the argument name as --read_filter instead of -read_filter.
Latest WholeGenomePipeline.
Other minor cleanup to utility methods.
2012-04-17 11:45:32 -04:00
Mark DePristo 3f6b2423d8 Update VE IT to reflect new fields and bugfixes 2012-04-13 17:00:37 -04:00
Mark DePristo f9190b6fcd VariantEvalUnitTest is better named VariantEvalWalkerUnitTest 2012-04-13 17:00:37 -04:00
Mark DePristo 84d1e8713a Infrastructure for combining VariantEvaluations
-- Not hooked up yet, so the output of VariantEval should be the same as before
-- Implemented a VariantEvalUnitTest that tests the low level strat / eval combinatorics and counting routines
-- Better docs throughout
2012-04-13 17:00:36 -04:00
Mark DePristo 2aa2d9aec0 Merged bug fix from Stable into Unstable 2012-04-13 09:25:43 -04:00
Mark DePristo 27e7e17dc7 New way to handle exceptions in multi-threaded GATK
-- HMS no longer tries to grab and throw all exceptions.  Exceptions are just thrown directly now.
-- Proper error handling is handled by functions in HMS, which are used by ShardTraverser and TreeReducer
-- Better printing of stack traces in WalkerTest
2012-04-13 09:23:33 -04:00
Mark DePristo e85e9a8cf5 More extensive testing of type of error thrown in multi-threaded walker test
-- Unfortunately the result of the multi-threaded test is non-deterministic so run the test 10x times to see if the right expection is always thrown
-- Now prints the stack trace and exception message of the caught exception of the wrong type, if this occurs
2012-04-13 09:23:33 -04:00
Eric Banks 297afc7911 Added unit test to ensure that we genotype correctly cases with really large GLs 2012-04-12 15:43:14 -04:00
Eric Banks 5b7da3831f Not sure why this didn't make it into the last push, but here's a working MD5 for the NDA annotation in UG 2012-04-11 13:49:50 -04:00
Eric Banks dc90508104 Adding a new annotation to UG calls: NDA = number of discovered (but not necessarily genotyped) alleles for the site. This could help downstream analysis esp. of indels for wonky sites (since we only use the top 2-3 alleles). Not enabled by default but we can change that if this turns out to be useful. 2012-04-11 13:47:10 -04:00
Eric Banks d2142c3aa7 Adding integration test for Flag Stat 2012-04-10 22:40:38 -04:00
Ryan Poplin 1df0adf862 Fixing ActivityProfile unit test. 2012-04-10 15:28:27 -04:00
Ryan Poplin e3cc7cc59c Resolving merge conflict. 2012-04-10 14:50:27 -04:00
Ryan Poplin a4634624b7 There are now three triggering options in the HaplotypeCaller. The default (mismatches, insertions, deletions, high quality soft clips), an external alleles file (from the UG for example), or extended triggers which include low quality soft clips, bad mates and unmapped mates. Added better algorithm for band pass filtering an ActivityProfile and breaking them apart when they get too big. Greatly increased the specificity of the caller by battening down the hatches on things like base quality and mapping quality thresholds for both the assembler and the likelihood function. 2012-04-10 14:48:23 -04:00
Eric Banks 10e74a71eb We now allow arbitrary annotations other than dbSNP (e.g. HM3) to come out of the Unified Genotyper. This was already set up in the Variant Annotator Engine and was just a matter of hooking UG up to it. Added integration test to ensure correct behavior. 2012-04-10 12:30:35 -04:00
Eric Banks f82986ee62 Adding unit tests for the very important log10sumLog10 util method. 2012-04-09 14:28:25 -04:00
Mauricio Carneiro 87e6bea6c1 Adding engine capability to quantize qualities.
* Added parameter -qq to quantize qualities using a recalibration report
   * Added options to quantize using the recalibration report quantization levels, new nLevels and no quantization.
   * Updated BQSR scripts to make use of the new parameters
2012-04-08 21:07:51 -04:00
Mark DePristo c22a66870c Modified UnitTests to respect reference padding 2012-04-06 16:27:20 -04:00
Mark DePristo 45fc0ea98d Improvements to indel analysis capabilities of VariantEval
-- Now calculates the number of Indels overlapping gold standard sites, as well as the percent of indels overlapping gold standard sites
-- Removed insertion : deletion ratio for 1 bp event, replaced it with 1 + 2 : 3 bp ratio for insertions and deletions separately.  This is based on an old email from Mark Daly:

    // - Since 1 & 2 bp insertions and 1 & 2 bp deletions are equally likely to cause a
    // downstream frameshift, if we make the simplifying assumptions that 3 bp ins
    // and 3bp del (adding/subtracting 1 AA in general) are roughly comparably
    // selected against, we should see a consistent 1+2 : 3 bp ratio for insertions
    // as for deletions, and certainly would expect consistency between in/dels that
    // multiple methods find and in/dels that are unique to one method  (since deletions
    // are more common and the artifacts differ, it is probably worth looking at the totals,
    // overlaps and ratios for insertions and deletions separately in the methods
    // comparison and in this case don't even need to make the simplifying in = del functional assumption

-- Added a new VEW argument to bind a gold standard track
-- Added two new stratifications: OneBPIndel and TandemRepeat which do exactly what you imagine they do
-- Deleted random unused functions in IndelUtils
2012-04-06 16:07:46 -04:00
Mark DePristo 52ef4a3e26 Function to compute whether a VariantContext indel is part of a TandemRepeat
Returns true iff VC is an non-complex indel where every allele represents an expansion or
 contraction of a series of identical bases in the reference.

 The logic of this function is pretty simple.  Take all of the non-null alleles in VC.  For
 each insertion allele of n bases, check if that allele matches the next n reference bases.
 For each deletion allele of n bases, check if this matches the reference bases at n - 2 n,
 as it must necessarily match the first n bases.  If this test returns true for all
 alleles you are a tandem repeat, otherwise you are not.  Note that in this context n is the
 base differences between the ref and alt alleles
2012-04-06 16:07:46 -04:00
Mauricio Carneiro 7c3b3650bb BQSR bug triage
* fixed bug where some keys were using the same recal datum objects
    * fixed quantization qual calculations when combining multiple reports
    * fixed rounding error with empirical quality reported when combining reports
    * fixed combine routine in the gatk reports due to the primary keys being out of order
    * added auto-recalibration option to BQSR scala script
    * reduced the size of the recalibration report by ~15%
    * updated md5's
2012-04-05 09:32:18 -04:00
Mark DePristo 76e4100d89 By default, IndelLengthHistogram won't collapse large events into the last bin, as it produces weird looking plots
-- Updated integration tests as well
2012-04-04 18:48:03 -04:00
Ryan Poplin bfad26353a Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-04 16:04:50 -04:00
Ryan Poplin dda2173c66 Moved the Smith-Watermaning of haplotypes to earlier in the process so that alleles sent to genotyping would have the exact genomic sequence of the active region they represent. As a side effect cleaned up some edge case problems with variants, both real and false, which show up on the edges of active regions. Removed code that was replicated between the Haplotype class and ReadUtils. Finally figured out how to ensure that the indel calls coming out of the HC were left aligned. 2012-04-04 16:04:29 -04:00
Mark DePristo 1ccea866d8 VariantEval now includes -keepAC0 argument to include sites with alt alleles but AC 0 in analyses
-- Updated EvalModules to work with new paramter
-- adding test file for keepAC0 to public/testdata and integration tests
2012-04-04 15:37:12 -04:00
Eric Banks 337ff7887a When constructing VariantContexts from symbolic alleles, check for the END tag in the INFO field; if present, set the stop position of the VC accordingly. Added integration test to ensure that this is working properly for use with -L intervals. 2012-04-04 10:57:05 -04:00
Guillermo del Angel 05d8400468 Fix up broken non-pool UG tests: GenotypeLikelihoods.calcNumLikelihoods now expects total # of alleles, not # of alt ones. Add doc to new function implementation. Add unit test for function. Add unit test for PoolGenotypeLikelihoods (not fully done yet) 2012-04-03 20:51:24 -04:00
Guillermo del Angel 5a10f173ea Bug fix: BaseTest change shouldn't have been committed, first cleanup of SNP pool code (more to follow) 2012-04-03 18:55:52 -04:00
Guillermo del Angel 63b1e737c6 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-03 15:43:50 -04:00