Commit Graph

9209 Commits (4075bc7d3db3ff19d690081dee6de44b30552ec2)

Author SHA1 Message Date
Mark DePristo 4075bc7d3d BUGFIX to not skip chr22 2012-04-02 09:14:07 -04:00
Mark DePristo 6b7a00061a VariantsToTable now works with multiple input VCFs 2012-04-02 09:13:35 -04:00
Mark DePristo 8072060496 Update g1K summary table to actually work with autosome / X distinction 2012-04-01 16:10:44 -04:00
Ryan Poplin f05cc96991 Adding multiallelics and phased variant examples to the HaplotypeCaller integration tests. Lowering max alternate alleles back to the UG default value because of memory constraints with many samples. 2012-03-31 10:53:37 -04:00
Mark DePristo 4f73ea902f Final update for VE. VCFStreaming wasn't yet updated 2012-03-30 21:52:01 -04:00
Mark DePristo c9b2e376d3 Change variable name from Count to Freq in variantCallQC.R 2012-03-30 20:11:59 -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
Ryan Poplin f997b1dbf9 Don't allow active region paths with cycles because it leads to Smith-Waterman issues 2012-03-30 16:06:40 -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 8c0718a7c9 Fixed missing import 2012-03-30 15:31:55 -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 b335c22f6d Fully refactored, mostly cleaned up version of VariantEval using StratificationManager 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 d37f31e349 First version of VariantEval that runs (approximately correctly) with new StratificationManager 2012-03-30 15:31:54 -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 91c5353c4c By default use 4 threads for 1000G table 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
Ryan Poplin a36f4570c4 Adding two new output options in HaplotypeCaller for Menachem. The first controls the look ahead distance for turning consecutive SNPs into MNPs and the second outputs the full haplotype sequence for the active region instead of using Smith Waterman to find all the variants and output them in individual VCF records. 2012-03-30 14:09:38 -04:00
Guillermo del Angel 11645568a8 Removed all functional code from PoolIndelGenotypeLikelihoodsCalculationModel - it was just copied over from non-pool version. Real pool indel functionality not ready yet. Several pool caller cleanups and tmp additions 2012-03-30 10:42:32 -04:00
Eric Banks 533c283783 Deprecating AlignmentContext.getExtendedEventPileup(). At this point the only walkers left with any relaiance on extended events are Guillermo's pooled code (he'll update soon) and the Pileup walker. David, I'll leave that last one for you (it should be easy). We can now officially rip the extended event code from the engine. 2012-03-30 10:37:14 -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
Eric Banks b467cd1dae Removing dependence on extended events for the remaining Variant Annotator modules. 2012-03-30 09:05:26 -04:00
Eric Banks b21889812d Removing some more usages of extended events. Not done yet, but almost there. 2012-03-30 01:51:37 -04:00
Eric Banks ad6ace2439 Resolving merge conflicts 2012-03-30 01:51:09 -04:00
Eric Banks 16bef191c6 UG integration tests updated. A handful of sites are lost because there are only 5 indels and one starts at the beginning of the read so it no longer passes our min threshold (now consistent with GGA), but mostly the depth changes ever so slightly once in a while between extended and normal pileups (I think the normal pileups are correct). I have looked thoroughly in IGV at ALL differences and am happy with the new results. As an aside, the AD is now calculated more accurately for indels. 2012-03-30 01:35:49 -04:00
Eric Banks f4d4969f23 Don't ever return null for the list of GL models 2012-03-30 00:22:40 -04:00
Eric Banks 44ac49aa34 Removing dependencies in the annotations on extended events. Some refactoring involved in this. 2012-03-30 00:17:02 -04:00
Mauricio Carneiro 962fc352ae unnecessary substitution. 2012-03-29 18:01:43 -04:00
Mauricio Carneiro b7c59d5d43 this was a dummy test I was using to figure out what the problem was. Deleting it. 2012-03-29 18:00:25 -04:00
Mauricio Carneiro cbd21c6339 Nasty, nasty.....
VariantEval is overly abusive of the GATKReport (lack of) spec.

   1. It converts numeric values (longs, integers and doubles) to string before sending to the Report, then expects it to decipher that those were actually numbers.
   2. Worse, the stratification modules somehow instead of sending the actual values to the report table, sends a string with the value "unknown" and then abuses the GATKReport spec to convert those "unknown" placeholder values with numbers. Then again, it expects the report to know those are numbers, not strings.

   Now that the GATKReport HAS specs, VariantEval needs to be overhauled to conform with that. In the meantime, I have added special ad-hoc treatment to these wrong contracts. It works, and the integration tests all passed without changing any MD5's, but right after Mark and Ryan commit their VariantEval refactors, I will step in to change the way it interacts with the GATKReport, so we can clean up the GATKReport.

   No wonder, the printing needed to be O(n^2).
2012-03-29 17:49:53 -04:00
Eric Banks c2e27729c7 Renaming PileupElement.isBeforeDeletion() to PileupElement.isBeforeDeletedBase() so that it's more clear that it can still be true while inside a deletion. Added PileupElement.isBeforeDeletionStart() to cover the case that I want where we only trigger before the actual deletion event. Similarly for after a deletion. Updated counting code in ConsensusAlleleCounter accordingly. 2012-03-29 17:08:25 -04:00
Ryan Poplin 6da9571829 resolving merge conflicts. 2012-03-29 16:16:28 -04:00
Ryan Poplin ca96544ed0 All the zero quality N bases in the solid reads are adding lots of extra paths in the assembly graph. We now require a minimum base quality for every base in the kmer before adding it to the graph. The large number of solid reads with unmapped mates was also triggering the active region traversal at every base. We now ignore that check for solid reads. 2012-03-29 16:14:29 -04:00
Eric Banks e4469a83ee First attempt at removing all traces of extended events from UG; integration tests are expected to fail. 2012-03-29 14:59:29 -04:00
Eric Banks e61e162c81 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-29 12:33:13 -04:00
Mauricio Carneiro cf364f26a0 Fixing alignment issue with the GATKReportColumn algorithm
Numeric columns were being left-aligned when they should be right-aligned. Fixed it.
2012-03-29 12:28:49 -04:00
Mauricio Carneiro f80bd4276a fixed estimated Q reported calculation in the gatherer 2012-03-29 12:28:43 -04:00
Mauricio Carneiro 8a9fb514b6 simplifying GATKReportColumn constructor logic 2012-03-29 12:28:37 -04:00
Eric Banks e861106398 Accidentally erased important line 2012-03-29 11:08:54 -04:00
Eric Banks e4a225ed09 Move the code to subset a Variant Context to fewer alleles (including restructuring the PLs appropriately) into VariantContextUtils where it can be used generally. 2012-03-29 11:07:37 -04:00
Guillermo del Angel c9c3f6b0fc Minor UG Engine refactoring/cleanup: instead of passing in the # of samples separately from sample set, pass in ploidy instead and compute # of chromosomes internally - will help later on with code clarity 2012-03-29 11:05:42 -04:00
Ryan Poplin 9684a2efb0 HaplotypeCaller: Variants found on the same haplotype are now written out with phased genotypes. There are serious eval issues with MNPs so disabling them for now. 2012-03-29 09:41:29 -04:00
Guillermo del Angel a0843f125e Forgot to add file itself for new unit test 2012-03-28 21:08:18 -04:00
Guillermo del Angel 250adca350 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-28 21:01:49 -04:00
Guillermo del Angel e0ab4e4b30 Refactoring so that ConsensusAlleleCounter can use regular pileups and can operate correctly. This involved adding utility functions to ReadBackedPileup to count # of insertions/deletions right after current position. Added unit test for IndelGenotypeLikelihoods, esp. ConsensusAlleleCounter logic 2012-03-28 21:01:31 -04:00
Mauricio Carneiro 8f0e9d74ce GATKReportTable output refactor
writing out a GATKReportTable was O(n^2)!!!!!
New implementation is O(n). What a difference, when N = 2^16...
2012-03-28 17:19:12 -04:00
Menachem Fromer 5ff24f8cf3 We want the DoC calculations for CNVs to include N bases in the reference just so that the PAR regions in chr Y (set to all Ns) end up with mean coverage of 0/L, where L = target length (and not NaN = 0/0). Including Ns in any other targets is probably OK too, since most (if not all) non-chromosome Y targets will not have any Ns 2012-03-28 16:42:34 -04:00
Guillermo del Angel 62ee31afba Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-28 16:00:38 -04:00