Commit Graph

9153 Commits (08f7d47d7c45566e22c45bd6e436e433fc0dc352)

Author SHA1 Message Date
Guillermo del Angel 08f7d47d7c Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-28 07:42:09 -04:00
Ryan Poplin 7f211c66fa Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-27 23:09:18 -04:00
Ryan Poplin 60c9ada5d8 Adding some basic AssemblyEngine unit tests. 2012-03-27 23:09:04 -04:00
Mark DePristo 12aa72f200 Merged bug fix from Stable into Unstable 2012-03-27 22:43:00 -04:00
Mark DePristo 979a84a252 Bugfix for thread unsafe PL cache
-- See https://getsatisfaction.com/gsa/topics/unifiedgenotyper_error_indel?utm_content=topic_link&utm_medium=email&utm_source=new_topic
-- Solution is to use a fixed cache that's never updated on the fly.  My changes limit us to having no more than 500 alleles at a site, which I hope is ok but easy enough to up to a ridiculously large number.
2012-03-27 22:42:30 -04:00
Guillermo del Angel 8f34412fb8 First Pool Caller exact model: silly straightforward math implementation of biallelic pool caller exact likelihood model, no attempt and any smartness or optimization, no support yet for generalized multiallelic form, just hooking up for testing 2012-03-27 20:59:44 -04:00
Ryan Poplin 74615c42df Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-27 15:19:46 -04:00
Ryan Poplin 80b11cfe3c Bug fix for the case of zero reads remaining in the active region after clipping and filtering. 2012-03-27 15:19:34 -04:00
Guillermo del Angel ed322bd73f Fix again merge issues 2012-03-27 15:03:13 -04:00
Guillermo del Angel b4a7c0d98d Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-27 15:01:03 -04:00
Guillermo del Angel 343a061b1c Fix merge issues when incorporating new AF calculations changes 2012-03-27 15:00:44 -04:00
Mauricio Carneiro 1b75663178 BQSR Gatherer implementation and integration tests
* restructured the hash tables into one class (RecalibrationReport) that has all the functionality for the different tables and key managers
   * optmized empirical qual calculation when merging recalibration reports
   * centralized the quality score quantization functionalities
   * unified the creating/loading of all the key manager/hash table structures.
   * added unit tests for the gatherer (disabled because gatk report needs to be sorted for automated testing)
   * added integration tests for BQSR and on-the-fly recalibration
2012-03-27 13:50:22 -05:00
Joel Thibault ea9c04b8c2 Updated license year 2012-03-27 14:32:02 -04:00
Ryan Poplin 5dbd3625cd Initial algorithm for choosing best alternate haplotypes to genotype based on the likelihoods from all samples instead of choosing for each sample independently. Simple tradeoff of penalty for increasing model complexity and likelihood of the data. 2012-03-27 13:38:52 -04:00
Eric Banks c112e0824a I was adding verbose output to the Pileup output for a one-off and decided that I might as well commit it as an option. Updated deprecated calls while I was in there. 2012-03-27 11:09:03 -05:00
Mark DePristo a638996fe2 Cleanup of VariantEval, diatribe about performance problems with StateKey
-- Minor refactoring of state key iteration in VEW.map to make the dependencies more clear
-- Long discussion about the performance problems with StateKey, and how to fix it, which I have run out of time to address before ESP meeting.
2012-03-27 11:56:24 -04:00
Mark DePristo 679bb03014 Simple utility function for converting an Iterable<T> to Collection<T> 2012-03-27 11:54:58 -04:00
Mark DePristo 1f5f737c8b Optimizing the GATKReportTable.write
-- Better iteration, caching of strings, better printf calls, to improve the writing performance of GATKReportTables
2012-03-27 11:54:35 -04:00
Mark DePristo 9c384b4813 Near final version of 1000G Phase I table script 2012-03-27 11:52:07 -04:00
Mark DePristo 913c8b231f Fix ErrorRatePerCycle to overload equals and hashcode
-- Fixes failing integration tests
2012-03-27 10:35:32 -04:00
Eric Banks c07a577ba3 Significant restructuring of the Exact model, as discussed within the dev group last week. There is no more marginalizing over alternate alleles, and we now keep track of the MLE and MAP. Important notes: 1) integration tests change because the previous marginalization wasn't done correctly (as pointed out by Guillermo) and our confidences were too high for many multi-allelic sites; 2) there is a major TO-DO item that needs to be discussed within the dev group (so they should expect a follow up email); 3) this code is still in flux as I am awaiting feedback from Ryan now on its performance with the Haplotype Caller (the good news, Ryan, is that we recover that site that we were losing previously). 2012-03-27 00:27:44 -05:00
Guillermo del Angel e8bb8ade1a Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-26 16:42:03 -04:00
Guillermo del Angel 1a2a4848e8 Added integration test for ValidationSiteSelector, correct MD5's 2012-03-26 16:39:55 -04:00
Mark DePristo 34ea443cdb Better algorithm for choosing which indel alleles are present in samples
-- The previous approach (requiring > 5 copies among all reads) is breaking down in many samples (>1000) just from sequencing errors.
-- This breakdown is producing spurious clustered indels (lots of these!) around real common indels
-- The new approach requires >X% of reads in a sample to carry an indel of any type (no allele matching) to be including in the counting towards 5.  This actually makes sense in that if you have enough data we expect most reads to have the indel, but the allele might be wrong because of alignment, etc.  If you have very few reads, then the threshold is crossed with any indel containing read, and it's counted.
-- As far as I can tell this is the right thing to do in general.  We'll make another call set in ESP and see how it works at scale.
-- Added integration tests to ensure that the system is behaving as I expect on the site I developed the code on from ESP
2012-03-26 16:28:49 -04:00
Mark DePristo 11b6fd990a GATKReportColumn optimizations
-- Was TreeMap even though the sorting wasn't used.  Replaced with LinkedHashMap.
2012-03-26 16:28:49 -04:00
Mark DePristo a0dcac9ec6 Indel length distributions are now boxplots 2012-03-26 16:28:48 -04:00
Mark DePristo 6be5e82860 VariantEval scalability optimizations
-- StateKey no longer extends TreeMap.  It's now a final immutable data structure that caches it's toString and hashcode values.  TODO optimizations to entirely remove the TreeMap and just store the HashMap for performance and use the tree for the sorted tostring function.
-- NewEvaluationContext has a method makeStateKey() that contains all of the functionality that once was spread around VEUtils
-- AnalysisModuleScanner uses an annotationCache to speed up the reflections getAnnotations() call when invoked over and over on the same objects.  Still expensive to convert each field to a string for the cache, but the only way around that is a complete refactoring of the toTransversalDone of VE
-- VariantEvaluator base class has a cached getSimpleName() function
-- VEUtils: general cleanup due to refactoring of StateKey
-- VEWalker: much better iteration of map data structures.  If you need access to iterate over all key/value pairs use the Map.Entry construct with entrySet.  This is far better than iterating over the keys and calling get() on each key.
2012-03-26 16:28:48 -04:00
Guillermo del Angel 1c424c0daf Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-26 15:15:50 -04:00
Ryan Poplin 8f0828daa6 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-26 11:32:58 -04:00
Ryan Poplin 019145175b Major optimizations to graph construction through better use of built in graph.containsVertex and vertex.equals methods. Minor optimizations to MathUtils.approximateLog10SumLog10 method 2012-03-26 11:32:44 -04:00
Mark DePristo dcc354c38e Continuing to improve stack trace formatting. Now includes error message as well 2012-03-26 08:18:21 -04:00
Ryan Poplin 1fa66f76c9 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-25 23:04:47 -04:00
Ryan Poplin 3bf650ec18 bug fix for concurrent modification exception when path cache size was exceeded. 2012-03-25 20:44:45 -04:00
Guillermo del Angel ce617b2dfc Bug fix to previous UnifiedGenotyperEngine refactoring, removed debug code 2012-03-25 10:20:21 -04:00
Guillermo del Angel db54c2625f Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-03-25 09:53:35 -04:00
Eric Banks c4f0d7eb73 Added mode to call SNPs and indels separately. Added functional annotation step back in. 2012-03-25 09:06:28 -04:00
Guillermo del Angel deb4586559 Next intermediate commit for new pool caller structure: a) Bug fixes in pool GL computation. Now, correct GL's are returned per each pool to the UG engine. Work still needs to be done in redoing interface with exact model. b) Added unit tests for new MathUtils dot product and logDotProduct functions. c) Refactorings of UnifiedGentotyperEngine since N (size of prior/posterior arrays) is no longer necessarily nSamples+1 but, in general, nSamplesPerPool*nPools+1 2012-03-24 21:49:43 -04:00
Ryan Poplin 76d88a2577 Scale the pruning of the assembly graph with the approximate per-sample coverage of the region. Get rid of the PriorityQueue in the assembly graph traversal because it is too slow. 2012-03-24 11:57:40 -04:00
Mark DePristo b063bcd38d Removing update0 support in VariantEval
-- Now the only use for update0, calculating the number of processed loci, is centrally tracked in the walker itself not the evaluations.
-- This allows us to avoid calling update0 are every genomic base in 100ks of evaluates when there are a lot of stratifications.
-- No need to modify the integration tests, this optimization doesn't change the result of the calculation
2012-03-23 21:02:21 -04:00
Ryan Poplin 5e93dc690d Bug fix for when a node has an edge pointing to itself and was trying to merge with itself. Bug fix for edge class not using the vertex object equals function. 2012-03-23 16:40:03 -04:00
Mauricio Carneiro 0509d316d9 More information in the recalibration report
* added empirical quality counts to allow quantization during on-the-fly recalibration to any level
   * added number of observations and errors to all tables to enable plotting of all covariates
2012-03-23 16:15:19 -04:00
Mauricio Carneiro 9f74969e3a BQSR with GATKReport implementation
* restructured BQSR to report recalibrated tables.
   * implemented empirical quality calculation to the BQSR stage (instead of on-the-fly recalibration)
   * linked quality score quantization to the BQSR stage, outputting a quantization histogram
   * included the arguments used in BQSR to the GATK Report
   * included all three tables (RG, QUAL and COVARIATES) to the GATK Report with empirical qualities

On-the-fly recalibration with GATK Report

   * loads all tables from the GATKReport using existing infrastructure (with minor updates)
   * implemented initialiazation of the covariates using BQSR's argument list
   * reduced memory usage significantly by loading only the empirical quality and estimated quality reported for each bit set key
   * applied quality quantization to the base recalibration
   * excluded low quality bases from on-the-fly recalibration for mismatches, insertions or deletions
2012-03-23 15:42:32 -04:00
Mauricio Carneiro f421062b55 Updated read group covariate to use sample.lane instead of the id
Added Unit test.
2012-03-23 15:24:07 -04:00
Mauricio Carneiro 539da9e3e1 Fixing GATKReport exception handling when loading a report
* allowing tables with no description to go through
   * GATKReportTable should be more lenient with the format requirements (added to-dos for roger)
2012-03-23 15:23:13 -04:00
Mark DePristo 4a54a4b11c Bugfixes to variantCallQC.R; improved visual style
-- Still need to deal with the need to have a gold-standard track that isn't a stratification but is actually just provided as is for use to eval modules.  This is currently stopping us from computing the % gold standard calls discovered, and the % of gold standard calls in the call set.
2012-03-23 15:06:13 -04:00
Eric Banks 2511839068 Merged bug fix from Stable into Unstable 2012-03-23 13:51:33 -04:00
Eric Banks d3f2bc4361 Pre-allocate 10 alt alleles worth of PLs in the cache for efficiency. This effectively means that we never need to re-allocate the cache in the future because we can't ever really handle that many alt alleles. 2012-03-23 13:51:00 -04:00
Mark DePristo e4ec90cfce Merged bug fix from Stable into Unstable 2012-03-23 11:27:34 -04:00
Mark DePristo ff26f2bf68 HierarchicalMicroScheduler no longer attempts to wrap exceptions
-- This behavior, which isn't obviously valuable at all, continued to grab and rethrow exceptions in the HMS that, if run without NT, would show up as more meaningful errors.  Now HMS simply checks whether the throwable it received on error was a RuntimeException.  If so, it is stored and rethrow without wrapping later.  If it isn't, only in this case is the exception wrapped in a ReviewedStingException.
-- Added a QC walker ErrorThrowingWalker that will throw a UserException, ReviewedStingException, and NullPointerException from map as specified on the command line
-- Added IT that ensures that all three types are thrown properly (i.e., you catch a NullPointerException when you ask for one to be thrown) with and without threading enabled.
-- I believe this will finally put to rest all of these annoying HMS captures.
2012-03-23 11:27:21 -04:00
Ryan Poplin fdd37e0798 Strings are way too slow. Now uses ArrayUtils to append arrays of bytes (paths) together. 2012-03-23 11:16:03 -04:00