Commit Graph

780 Commits (982192e2e48bcea94c5fbbd342c6a06bc6483e4f)

Author SHA1 Message Date
Mark DePristo c3b8048e2e Moving around classes in VCF and BCF2
-- Refactored VCF writers into vcf.writers package
-- Moved BCF2Writer to bcf2.writer
-- Updates to all of the walkers using VCFWriter to reflect new packages
-- A large number of files had their headers cleaned up because of this as well
2012-05-24 10:56:58 -04:00
Mark DePristo 679ffdd333 Move BCF2 from private utils to public codecs 2012-05-24 10:56:56 -04:00
Khalid Shakir e57cd78bba Killed two more resource leakers that ignored requests to close wrapped file pointers, and added Unit Tests for each.
This bug will happen in all adapter/wrapper classes that are passed a resource, and then in their close method they ignore requests to close the wrapped resource, causing a leak when the adapter is the only one left with a reference to the resource.

Ex:

public Wrapper getNewWrapper(File path) {
  FileStream myStream = new FileStream(path); // This stream must be eventually closed.
  return new Wrapper(myStream);
}

public void close(Wrapper wrapper) {
  wrapper.close(); // If wrapper.close() does nothing, NO ONE else has a reference to close myStream.
}
2012-05-21 15:41:56 -04:00
Eric Banks 26968ae8eb Forgot that the VCFStreamingOntegrationTest uses VE 2012-05-18 02:51:53 -04:00
Eric Banks 52c206d5db Has anyone else ever noticed that the DiffEngine outputs were always doubled for some reason? That no longer happens with the new reports. 2012-05-18 02:32:20 -04:00
Eric Banks 03d40272c8 Removed old GATKReport code and moved the new stuff in its place. 2012-05-18 01:44:31 -04:00
Eric Banks a26b04ba17 Extensive refactoring of the GATKReports. This was a beast.
The practical differences between version 1.0 and this one (v1.1) are:

* the underlying data structure now uses arrays instead of hashes, which should drastically reduce the memory overhead required to create large tables.
* no more primary keys; you can still create arbitrary IDs to index into rows, but there is no special cased primary key column in the table.
* no more dangerous/ugly table operations supported except to increment a cell's value (if an int) or to concatenate 2 tables.

Integration tests change because table headers are different.
Old classes are still lying around.  Will clean those up in a subsequent commit.
2012-05-18 01:11:26 -04:00
Guillermo del Angel 5189b06468 New annotation for indels that describe if they're STR's and their characteristics. If an indel is a STR, 3 fields are added to INFO: STR (boolean), RU = repeat unit (String), RPA = number of repetitions per allele. So, for example, if ATATAT* context gets changed to ATAT and ATATATAT, then RU=AT and RPA=3,2,4. Will be made standard annotation shortly. Added unit tests for new functionality. Pending: refactor VariantContextUtils.isRepeat() to unify code, and fix VariantEval functionality. 2012-05-17 15:28:19 -04:00
Guillermo del Angel ae26f0fe14 a) Fully functional and working multiallelic exact model for pools. Needs cleanup/more testing. b) Better unit test for pool genotype likelihoods - it now optionally generates actual noisy pileups that can be used for assessing GL accuracy, c) Totally experimental, hidden option in VariantsToTable to output genotype fields. Specifying -GF will output columns of form Sample.FieldName - needs also more testing 2012-05-14 10:55:35 -04:00
Guillermo del Angel 89f8a6b2e6 Revert bad part of last commit that shouldn't have been pushed 2012-05-10 10:41:08 -04:00
Guillermo del Angel 27b1aa5dd3 Don't allow N's in insertions when discovering indels. Maybe better solution will be to use them as wildcards and merge them with compatible regular insertion alleles but for now it's easier to ignore them. Minor refactoring of Allele.accepableAlleleBases to support this. Added unit test to test consensus allele counter in presence of N's 2012-05-10 10:29:19 -04:00
Eric Banks c40cda7e3c Nope, loads of integration tests had to be changed. 2012-05-07 14:30:42 -04:00
Eric Banks f3433201b1 Merged bug fix from Stable into Unstable 2012-05-03 11:11:00 -04:00
Eric Banks 557da77a1a Don't compute QD if there is no QUAL; added integration test for this 2012-05-03 11:02:37 -04:00
Eric Banks 1fc7b5d58b Merged bug fix from Stable into Unstable 2012-05-03 10:37:58 -04:00
Laurent Francioli 567d01cee8 - Added option to output the father's allele first in phased child haplotypes - BUG corrected causing wrong phasing of child/father pairs
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-05-03 10:36:49 -04:00
Laurent Francioli 96e5a26223 PED support for Inbreeding Coefficient annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-05-03 10:36:20 -04:00
Mark DePristo 43d97c2e00 Rev Tribble to r97, adding binary feature support
From tribble logs:

Binary feature support in tribble

-- Massive refactoring and cleanup
-- Many bug fixes throughout
-- FeatureCodec is now general, with decode etc. taking a PositionBufferedStream
as an argument not a String
-- See ExampleBinaryCodec for an example binary codec
-- AbstractAsciiFeatureCodec provides to its subclass the same String decode,
readHeader functionality before.  Old ASCII codecs should inherit from this base
class, and will work without additional modifications
-- Split AsciiLineReader into a position tracking stream
(PositionalBufferedStream).  The new AsciiLineReader takes as an argument a
PositionalBufferedStream and provides the readLine() functionality of before.
Could potentially use optimizations (its a TODO in the code)
-- The Positional interface includes some more functionality that's now
necessary to support the more general decoding of binary features
-- FeatureReaders now work using the general FeatureCodec interface, so they can
index binary features
-- Bugfixes to LinearIndexCreator off by 1 error in setting the end block
position
-- Deleted VariantType, since this wasn't used anywhere and it's a particularly
clean why of thinking about the problem
-- Moved DiploidGenotype, which is specific to Gelitext, to the gelitext package
-- TabixReader requires an AsciiFeatureCodec as it's currently only implemented
to handle line oriented records
-- Renamed AsciiFeatureReader to TribbleIndexedFeatureReader now that it handles
Ascii and binary features
-- Removed unused functions here and there as encountered
-- Fixed build.xml to be truly headless
-- FeatureCodec readHeader returns a FeatureCodecHeader obtain that contains a
value and the position in the file where the header ends (not inclusive).
TribbleReaders now skip the header if the position is set, so its no longer
necessary, if one implements the general readHeader(PositionalBufferedStream)
version to see header lines in the decode functions.  Necessary for binary
codecs but a nice side benefit for ascii codecs as well
-- Cleaned up the IndexFactory interface so there's a truly general createIndex
function that takes the enumerated index type.  Added a writeIndex() function
that writes an index to disk.
-- Vastly expanded the index unit tests and reader tests to really test linear,
interval, and tabix indexed files.  Updated test.bed, and created a tabix
version of it as well.
-- Significant BinaryFeaturesTest suite.
-- Some test files have indent changes
2012-05-03 07:31:48 -04:00
Mark DePristo 58c470a6c5 Rev'ing Tribble from 53 to 94
-- Other tribble contributors did major refactoring / simplification of tribble, which required some changes to GATK code
-- Integrationtests pass without modification, though some very old index files (callable loci beds) were apparently corrupt and no longer tolerated by the newer tribble codebase
2012-05-03 07:31:47 -04:00
Eric Banks e448cfcc59 Forgot to update these md5s 2012-05-02 21:09:50 -04:00
Khalid Shakir b8b7f28aa9 Revving Picard to pick up new SamFileHeaderMerger.
Updated ReadFilter abstract class to implement (via UnsupportedOperationException) the new SamRecordFilter.filterOut().
In IndelRealignerIntegrationTest updates for Picard fixes to SAMRecord.getInferredInsertSize() in svn r1115 & r1124.
- Ran FixMates to create new input BAM since running IR with variable maxReadsInMemory means all reads weren't realigned leading to different outputs.
- Updated md5s to match new expectations after looking at TLEN diff engine output.
2012-05-02 16:47:28 -04:00
Eric Banks 623b36fbc4 Add header lines for AC,AF, and AN tags 2012-05-02 15:33:34 -04:00
Eric Banks 619a69a5f1 As promised in the release notes for 1.6, I am removing the old deprecated genotyping framework revolving around the misordering of alleles and have moved the fixed version in its place in preparation for release 1.7 (or 2.0?). 2012-05-01 16:18:24 -04:00
Eric Banks 0f3af9555b Adding an option to SelectVariants which allows the user to re-genotype through the exact model (if PLs are present) the samples in order to recalculate the QUAL and genotypes. This is really the correct way to select a subset of samples, especially when originally called from low coverage data. Also added integration test to cover this case. 2012-05-01 14:58:06 -04:00
Eric Banks 0c8e801021 Removing public to private dependency 2012-05-01 11:04:11 -04:00
Eric Banks e964d17518 Removing public to private dependency 2012-05-01 11:02:28 -04:00
Mauricio Carneiro 462450c3e3 disabling all BQSR unit tests
with the changes to the cycle covariate, some tests need updates, others  need to be completely re-written.
2012-04-30 14:39:55 -04:00
Guillermo del Angel e185632013 Exhaustive unit tests for Pool SNP genotype likelihoods:
a) Add ability for ErrorModel to be specified by external log-probability vector for testing.
b) For a given depth and ploidy(=2*samples/pool), create artificial high quality pileup testing from AC=0 to AC=ploidy, and test that pool GL's have expected content.Misc. refactorings and cleanups
c) Misc. cleanups and beautification.
2012-04-30 14:29:46 -04:00
Guillermo del Angel 730208133b Several fixes and improvements to Pool caller with ancillary test functions (not done yet):
a) Utility class called Probability Vector that holds a log-probability vector and has the ability to clip ends that deviate largely from max value.
b) Used this class to hold site error model, since likelihoods of error model away from peak are so far down that it's not worth computing with them and just wastes time.
c) Expand unit tests and add an exhaustive test for ErrorModel class.
d) Corrected major math bug in ErrorModel uncovered by exhaustive test: log(e^x) is NOT x if log's base = 10.
e) Refactored utility functions that created artificial pileups for testing into separate class ArtificialPileupTestProvider. Right now functionality is limited (one artificial contig of 10 bp), can only specify pileups in one position with a given number of matches and mismatches to ref) but functionality will be expanded in future to cover more test cases.
f) Use this utility class for IndelGenotypeLikelihoods unit test and for PoolGenotypeLikelihoods unit test (the latter testing functionality still not done).
g) Linearized implementation of biallelic exact model (very simple approach, similar to diploid exact model, just abort if we're past the max value of AC distribution and below a threshold). Still need to add unit tests for this and to expand to multiallelic model.
h) Update integration test md5's due to minor differences stemming from linearized exact model and better error model math
2012-04-27 14:41:17 -04:00
Eric Banks 0439047269 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-27 10:49:45 -04:00
Eric Banks 05b44dd017 The genotypeCounts array wasn't always being initialized before it was accessed, leading to a NPE (which got caught and thrown as a JEXL expression when used in selection). Added unit test to cover all genotype count methods. 2012-04-27 10:49:36 -04:00
Khalid Shakir 9801dd114f Bug fix for: https://getsatisfaction.com/gsa/topics/problem_with_indelrealigner_and_l_unmapped
The GATK -L unmapped is for GenomeLocs with SAMRecord.NO_ALIGNMENT_REFERENCE_NAME, not SAMRecord.getReadUnmappedFlag()
Previously unmapped flag reads in the last bin were being printed while also seeking for the reads without a reference contig.
2012-04-27 09:58:38 -04:00
Guillermo del Angel 2f86ccb086 Correct md5's for previous code change 2012-04-26 16:20:41 -04:00
Guillermo del Angel 972d6531b6 Corner case fix for indel GL computation: sometimes (depending on surrounding context) reads which are not informative of two candidate haplotypes end up having marginally higher likelihoods with one haplotype as opposed to another, depending on uncertainty on alignments in surrounding regions. So, a sample whose GL is -0.0001,-0.0005,-0.001 may have its genotype set to 1/1 due to this statistical noise. We already have a tolerance comparing max(gl)-min(gl) to avoid genotyping, so this tolerance is now increased from 0.001 to 0.1 (equivalent to 1 PL unit) to avoid genotyping a sample if all PLs are within this threshold. Changed 2 integration test md5s that hit this case. 2012-04-26 10:15:26 -04:00
Laurent Francioli ab2a952ad1 PED support for Inbreeding Coefficient annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:56:47 -04:00
Laurent Francioli 219b0a128b PED support for ChromosomeCounts annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:50:04 -04:00
Laurent Francioli 19d5213d5a Added function to get founders IDs in SampleDB
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:49:36 -04:00
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
Guillermo del Angel 9e11b4f9a7 Major refactor/completion of new Pool Caller under UnifiedGenotyper framework. PoolAFCalculationModel implements new math to combine pools - correct, but still O(N^2) and not complete yet for multiallelics. Pool likelihoods are better encapsulated and kept in an internal hashmap from int[] -> double for space efficiency (likelihoods can be big for pool calls when in initial discovery mode with 4 alleles). Maybe need several iterations of optimization to make it runnable at large scale. Still need to correct function chooseMostLikelyAlternateAlleles before full runs can be produced. 2012-04-03 15:43:32 -04:00
Eric Banks 326220c91c Removing extended event related unit tests 2012-04-02 14:40:36 -04:00
Eric Banks 99d27ddcc4 Had some free time, so I unplugged extended events from the walkers. Now they exist only in LocusIteratorByState, but ReadProperties.generateExtendedEvents() always returns false so that block is never actually executed anymore. I don't want to touch LIBS because I think David is in there right now. 2012-04-02 14:27:36 -04:00
Mark DePristo 4f73ea902f Final update for VE. VCFStreaming wasn't yet updated 2012-03-30 21:52:01 -04:00
Mark DePristo fbbb8509ad Final commits to VariantEval
-- Molten now supports variableName and valueName so you don't have to use variable and value if you don't want to.
-- Cleanup code, reorganize a bit more.
-- Fix for broken integrationtests
2012-03-30 20:11:06 -04:00
Mark DePristo 4b45a2c99d Final version of new VariantEval infrastructure.
*** WAY FASTER ***
 -- 3x performance for multiple sample analysis with 1000 samples
 -- Analyzing 1MB of the ESP call set (3100 samples) takes 40 secs, compared to several minutes in the previous version
 -- According to JProfiler all of the runtime is now spent decoding genotypes, which will only get better when we move to BCF2

-- Remove the TableType system, as this was way too complex.  No longer possible to embed what were effectively multiple tables in a single Evaluator.  You now have to have 1 table per eval
-- Replaced it with @Molten, which allows an evaluator to provide a single Map from variable -> value for analysis.  IndelLengthHistogram is now a @Molten data type.  GenotypeConcordance is also.
-- No longer allow Evaluators to use private and protected variables at @DataPoints.  You get an error if you do.
-- Simplified entire IO system of VE.  Refactored into VariantEvalReportWriter.
-- Commented out GenotypePhasingEvaluator, as it uses the retired TableType
-- Stratifications are all fully typed, so it's easy for GATKReports to format them.
-- Removed old VE work around from GATKReportColumn
-- General code cleanup throughout
-- Updated integration tests
2012-03-30 15:31:56 -04:00
Mark DePristo 976bac0452 BaseTest now has a global variable to turn off network connection requirement 2012-03-30 15:31:55 -04:00
Mark DePristo 097ed4ecc4 Memory usage optimizations and safety improvements to StratNode and StratificationManager
-- Added memory and safety optimizations to StratNode and StratificationManager.  Fresh, immutable Hashmaps are allocated for final data structures, so they exactly the correct size and cannot be changed by users.
-- Added ability of a stratification to specify incompatible evaluation.  The two strats using this are AC and Sample with VariantSummary, as this computes per-sample averages and so combining these results in an O(n^2) memory requirement.  Added integration test to cover incompatible strats and evals
2012-03-30 15:31:55 -04:00
Mark DePristo c8086a79e3 New StratificationManager based VariantEval passes unmodified integration tests
-- Now needs cleanup and optimizations
2012-03-30 15:31:55 -04:00
Mark DePristo 8971b54b21 Phase II of Stratification manager
-- Renamed and reorganized infrastructure
-- StratificationManager now a Map from List<Object> -> V.  All key functions are implemented.  Less commonly used TODO
-- Ready for hookup to VE
2012-03-30 15:31:54 -04:00
Mark DePristo 9f1cd0ff66 Lots of new functionality for StratificationStates manager
-- Really working according to unit tests
-- A nCombination utils
2012-03-30 15:31:54 -04:00
Mark DePristo a3d896d80e Part I of creating a fast state space lookup for VE
-- Created a unit tested tree mapping from a List<String> -> integer (StratificationStates).  This class is the key infrastructure necessary to create a complete static mapping from all stratification combinations to an offset in a vector of EvalutionContexts for update in map.
-- Minor code cleanup throughout VE (removing unused headers, for example)
2012-03-30 15:31:53 -04:00
Eric Banks 6b49af253b Removing dependence on extended events from the RealignerTargetCreator. Did some minor refactoring while I was in there. 2012-03-30 10:33:30 -04:00