Commit Graph

685 Commits (d6277b70d8e860ac4ef37d7438687480e79eb111)

Author SHA1 Message Date
Eric Banks d6277b70d8 Forgot to consider the optimized case in hasAllele 2012-04-24 11:32:28 -04:00
Eric Banks 74ad008163 Adding VariantContext.hasAlternateAllele functionality 2012-04-24 11:07:46 -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 63aa79df82 Slightly better error message 2012-04-23 09:37:28 -04:00
Eric Banks 4edb005411 Catch poorly formatted PL/GL fields 2012-04-23 09:33:50 -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
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
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
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
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
Guillermo del Angel 82efd4457e Revert some bad merge changes 2012-04-18 16:35:09 -04:00
Guillermo del Angel 31c394d588 Resolve merge conflicts 2012-04-18 16:25:03 -04:00
Ryan Poplin 4999ae87ad Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-18 15:02:42 -04:00
Ryan Poplin dcc4871468 minor misc optimizations to PairHMM 2012-04-18 15:02:26 -04:00
Eric Banks 392f1903f7 Handling some of the NumberFormatExceptions seen via Tableau that are really user errors. 2012-04-18 12:57:37 -04:00
Mauricio Carneiro 46a212d8e9 Added "simplify reads" option to PrintReads. 2012-04-17 19:32:34 -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
Ryan Poplin cf705f6c62 Adding read position rank sum test to the list of annotations that get produced with the HaplotypeCaller 2012-04-17 17:00:00 -04:00
Guillermo del Angel c78b0eee3a Refactoring/fixing up UG HMM code: a) Make code use PairHMM class instead of having duplicated code. That way UG and HaplotypeCaller now use same core code. Changes to be able to do this: 1. Compute context-dependent GOP as a function of read, not of haplotype, b) Extracted code to initialize HMM arrays into separate method, c) Move PairHMM class and unit test to public, d) Reenable banded code in PairHMM, inverted sense of flag (true=enable feature) but leave off in HaplotypeCaller. 2012-04-17 14:22:48 -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 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
Eric Banks 818e8c2fb9 Resolving merge conflicts 2012-04-12 15:19:44 -04:00
Eric Banks 0dd571928d Let's not have the indel model emit more than the max possible number of genotypable alt alleles (since we may not be able to subset down to the best ones). 2012-04-12 15:16:29 -04:00
Eric Banks f77a6d18b8 Bad conflict merge before 2012-04-12 09:56:49 -04:00
Eric Banks 33a8bdd75f Resolving merge conflicts 2012-04-12 09:51:55 -04:00
Eric Banks b659b16b31 Generate User Error for bad POS value 2012-04-12 09:49:35 -04:00
Eric Banks cc71baf691 Don't allow users to try to genotype more than the max possible value (catch and throw a User Error at startup). Better docs explaining that users shouldn't play with this value unless they know what they are doing. 2012-04-12 09:18:44 -04:00
Guillermo del Angel f9f8589692 Refactoring/fixing up UG HMM code: a) Make code use PairHMM class instead of having duplicated code. That way UG and HaplotypeCaller now use same core code. Changes to be able to do this: 1. Compute context-dependent GOP as a function of read, not of haplotype, b) Extracted code to initialize HMM arrays into separate method, c) Move PairHMM class and unit test to public, d) Reenable banded code in PairHMM, inverted sense of flag (true=enable feature) but leave off in HaplotypeCaller. 2012-04-11 13:56:51 -04:00
Mauricio Carneiro cd842b650e Optimizing DiagnoseTargets
* Fixed output format to get a valid vcf
   * Optimzed the per sample pileup routine O(n^2) => O(n) pileup for samples
   * Added support to overlapping intervals
   * Removed expand target functionality (for now)
   * Removed total depth (pointless metric)
2012-04-10 17:43:59 -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
Guillermo del Angel 719ec9144a Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-09 14:53:19 -04:00
Guillermo del Angel 550179a1f7 Major refactorings/optimizations of pool caller, output still bit-true to older version: a) Move DEFAULT_PLOIDY from UnifiedGenotyperEngine to VariantContextUtils. b) Optimize iteration through all possible allele combinations. c) Don't store log PL's in hashmap from allele conformations to double, it was too slow. Things can still be optimized much more down the line if needed. d) Remove remaining traces of genotype priors. 2012-04-09 14:53:05 -04:00
Eric Banks 6ddf2170b6 More efficient implementation of the sum of the allele frequency posteriors matrix using a pre-allocated cache as discussed in group meeting last week. Now, when the cache is filled, we safely collapse down to a single value in real space and put the un-re-centered log10 value back into the front of the cache. Thanks to all for the help and advice. 2012-04-09 11:46:16 -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 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
Ryan Poplin c77104b815 Adding function call in HaplotypeCaller right before the VariantContext gets written out to disk which partitions all the reads by which allele gave the read the highest likelihood. This will allow variants to be annotated by the refactored VariantAnnotator. Uninformative reads are mapped to Allele.NO_CALL 2012-04-06 00:22:52 -04:00
Eric Banks 3561056a9c Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-05 10:49:26 -04:00
Eric Banks 5c3ddec4c2 Large refactoring of the genotyping codebase. Deprecated several of the old classes that had the wrong allele ordering and made new better copies with the correct ordering; eventually we'll push the new ones into the place of the old ones but for now we'll give users a chance to update their code. Also, removed (or deprecated as needed) the genotype priors classes since we never use them and all they serve to do is make reading the code more complicated. I expect to finish this refactoring in GATK 1.7 (or 2.0?) so that should give Kristian ample time to update. 2012-04-05 10:49:08 -04:00
Eric Banks 2c956efa53 Minor fixups to GenotypeLikelihoods 2012-04-05 09:14:37 -04:00
Mauricio Carneiro 1e65474fec Added utility to get the reference coordinate given the read coordinate 2012-04-05 09:04:20 -04:00
Guillermo del Angel 6913710e89 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-04 20:17:18 -04:00
Guillermo del Angel 820216dc68 More pool caller cleanups: ove common duplicated code between Pool and Exact AF calculation models up to super-class to avoid duplication. TMP: Have pool genotypes include the GT field. Mostly because without genotypes we can't get the site-wide AF,AC annotations, but it's unwieldy because it makes the genotype columns very long, TBD final implementation 2012-04-04 16:23:10 -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
Eric Banks 9e32a975f8 Wow, symbolic alleles were all busted internally and this finally bubbled up after my previous commit. For some reason we were inconsistently forcing allele trimming/padding if one was present. Not anymore. 2012-04-04 13:47:59 -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 63b1e737c6 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-03 15:43:50 -04:00