Commit Graph

3068 Commits (18b002c99c0ce8d8ca9bce4b21773da21a08e07c)

Author SHA1 Message Date
Ryan Poplin 18b002c99c Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-12-03 10:08:56 -05:00
Ryan Poplin 1bdf17ef53 Reworking of how the likelihood calculation is organized in the HaplotypeCaller to facilitate the inclusion of per allele downsampling. We now use the downsampling for both the GL calculations and the annotation calculations. 2012-12-02 11:58:32 -05:00
Mark DePristo 8020ba14db Minor cleanup of SAMDataSource as part of my system review
-- Changed a few function from public to protected, as they are only used by the package contents, to simplify the SAMDataSource interface
2012-11-30 15:04:41 -05:00
Mauricio Carneiro fc7fab5f3b Fixed ReadBackedPileup downsampling
Downsampling in the PerSampleReadBackedPileup was broken, it didn't downsample anything, always returning a copy the original pileup.
2012-11-30 00:42:05 -05:00
Joel Thibault 97d29f203e Add walltime changes to LSF
- Check whether the specified attribute is available
- Add pipeline test (disabled due to missing attribute)
2012-11-29 15:23:37 -05:00
Joel Thibault c76c808268 Reads are required to be sorted
- Remove the extended_only case because it's outside intervals
2012-11-28 13:59:58 -05:00
Joel Thibault 198923b597 Add ActiveRegionReadState handling 2012-11-28 13:59:57 -05:00
Ryan Poplin f0395b457a Adding the work-in-progress, experimental RepeatLengthCovariate to the BQSR so Chris can continue the development. 2012-11-28 13:56:32 -05:00
Eric Banks 3463774f2a Merged bug fix from Stable into Unstable 2012-11-28 13:26:52 -05:00
Eric Banks 6030605242 Added quick check for creation of bad BAQ values associated with badly encoded base qualities; hopefully this can help us debug the non-reproducible issue seen by many users. 2012-11-28 13:26:31 -05:00
Mark DePristo c676853731 Merged bug fix from Stable into Unstable. Updating md5s
Conflicts:
	protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java
2012-11-28 12:54:36 -05:00
Mark DePristo a1d6461121 Critical bugfix to AFCalcResult affecting UG/HC quality score emission thresholds
As reported by Menachem Fromer: a critical bug in AFCalcResult:

Specifically, the implementation:
    public boolean isPolymorphic(final Allele allele, final double log10minPNonRef) {
        return getLog10PosteriorOfAFGt0ForAllele(allele) >= log10minPNonRef;
    }

seems incorrect and should probably be:

getLog10PosteriorOfAFEq0ForAllele(allele) <= log10minPNonRef

The issue here is that the 30 represents a Phred-scaled probability of *error* and it's currently being compared to a log probability of *non-error*.

Instead, we need to require that our probability of error be less than the error threshold.
This bug has only a minor impact on the calls -- hardly any sites change -- which is good.  But the inverted logic effects multi-allelic sites significantly.  Basically you only hit this logic with multiple alleles, and in that case it'\s including extra alt alleles incorrectly, and throwing out good ones.

Change was to create a new function that properly handles thresholds that are PhredScaled quality scores:

    /**
     * Same as #isPolymorphic but takes a phred-scaled quality score as input
     */
    public boolean isPolymorphicPhredScaledQual(final Allele allele, final double minPNonRefPhredScaledQual) {
        if ( minPNonRefPhredScaledQual < 0 ) throw new IllegalArgumentException("phredScaledQual " + minPNonRefPhredScaledQual + " < 0 ");
        final double log10Threshold = Math.log10(QualityUtils.qualToProb(minPNonRefPhredScaledQual));
        return isPolymorphic(allele, log10Threshold);
    }
2012-11-28 12:08:02 -05:00
Menachem Fromer 79bc878e6a Allow debugging to be set from the command line 2012-11-27 22:37:41 -05:00
Eric Banks b40d3eb8aa Merged bug fix from Stable into Unstable 2012-11-27 14:41:07 -05:00
Eric Banks 01abcc3e0f Tests didn't like my note to Geraldine in the output logs; apparently it's tested in integration tests 2012-11-27 14:40:49 -05:00
Mark DePristo 7e4b9c9e6e Fix failing unit tests for VariantContextUtilsUnitTest
-- Previous version was adding multiple samples with the same name to the variant context
2012-11-27 14:26:23 -05:00
Joel Thibault 9bfe39411e Equal overlap should match right/later region 2012-11-27 13:03:13 -05:00
Joel Thibault d83ad906ef Add profile range contract 2012-11-27 13:03:13 -05:00
Joel Thibault cc550b4145 Add a read and interval on a different contig 2012-11-27 13:03:13 -05:00
Eric Banks 9531e58445 Merged bug fix from Stable into Unstable 2012-11-27 11:00:50 -05:00
Eric Banks 4543ece088 Fixing parsing of genomelocs that contain colons in the contig names (which is allowed by the spec) as reported on the forum. Added unit test for this case. 2012-11-27 11:00:33 -05:00
Eric Banks a82ec7ad80 Merged bug fix from Stable into Unstable 2012-11-27 10:27:08 -05:00
Eric Banks e199562c25 I have pulled out all of the documentation URLs and put them into the HelpUtils class as static variables; this way, Appistry can change links as needed to point commercial users to their own internal forum without having to muck things up all over our source. Added some TODOs for Geraldine to update links in the GATK docs that still point to the old wiki. Sorry that I am pushing into stable, but that's what Appistry is pulling from for their release next week (and unstable has been failing forever). 2012-11-27 10:26:17 -05:00
Mauricio Carneiro 97fd5de260 Merging latest CMI updates with UNSTABLE 2012-11-27 09:08:00 -05:00
Eric Banks b1969a66bd Update docs 2012-11-27 08:24:41 -05:00
Eric Banks cc72aaefeb Minor efficiency: use >= instead of > in test 2012-11-27 01:11:23 -05:00
Eric Banks 405f3c675d Fix for GSA-649: GenomeLocSortedSet.overlaps is crazy slow. Also improved GenomeLocSortedSet.sizeBeforeLoc. 2012-11-27 01:07:00 -05:00
Ryan Poplin e27d677c13 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-11-26 12:20:32 -05:00
Ryan Poplin c3b7dd1374 Misc cleanup in the HaplotypeCaller. Cleaning up unused arguments after recent changes to HC-GenotypingEngine 2012-11-26 12:19:11 -05:00
Eric Banks 4f7fa3009a I forget why I thought that the VariantAnnotator couldn't run multi-threaded because it works just fine. Now you can specify -nt with VA. 2012-11-26 11:34:59 -05:00
Mauricio Carneiro a3f5932501 Fixed null pointer exception in Integration Tests
When running Utils.setupWriter with NO_PG_TAG set, the writer was attempting to create a program record with the null pointer. Fixed.
2012-11-26 11:12:27 -05:00
Ryan Poplin fedc4fde6c Merged bug fix from Stable into Unstable 2012-11-25 21:55:55 -05:00
Ryan Poplin d978cfe835 Soft clipped bases shouldn't be counted in the delocalized BQSR. 2012-11-25 21:55:29 -05:00
Eric Banks 9719ba7adc Remove -number example from the docs since it's no longer supported. 2012-11-22 21:53:42 -05:00
Menachem Fromer 2306518ab6 Fix to deal with 'proper' options of casting 2012-11-22 01:45:18 -05:00
Menachem Fromer d33a412b5f Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-11-22 01:42:29 -05:00
Mark DePristo 48f271c5bd Adding 80% support for multi-allelic variants
-- Multi-allelic variants are split into their bi-allelic version, trimmed, and we attempt to provide a meaningful genotype for NA12878 here.  It's not perfect and needs some discussion on how to handle het/alt variants
-- Adding splitInBiallelic funtion to VariantContextUtils as well as extensive unit tests that also indirectly test reverseTrimAlleles (which worked perfectly FYI)
2012-11-21 17:24:59 -05:00
Joel Thibault c68bc95db6 Initial read mapping tests
- Failing tests are commented out
2012-11-21 17:16:46 -05:00
Joel Thibault 3ad9128800 Add some reads
- Move intervals and reads to init
- Update intervals and reads
2012-11-21 17:16:46 -05:00
Joel Thibault 3fa3b00f4a Add ActiveRegion tests and refactor 2012-11-21 17:16:45 -05:00
Joel Thibault e8defcb20d Test multiple bases and intervals 2012-11-21 17:16:45 -05:00
Joel Thibault c08b782743 Count isActive calls directly 2012-11-21 17:16:45 -05:00
Eric Banks 4f2229d399 As per the TODO message, I removed a check that was no longer necessary. Now ID is an allowable INFO field key. 2012-11-21 16:01:26 -05:00
Menachem Fromer 06261b58c2 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-11-21 15:57:08 -05:00
Eric Banks ed50814ccb Finally found a case where user errors were being masked behind other errors and could debug. It turns out that the checkForMaskedUserErrors() method needs to run recursively over all levels (calling exception.getCause()) to check for the original cause. 2012-11-21 15:57:05 -05:00
Menachem Fromer c8be7c3102 Keep SNPs and indels separately for batch merging; Add options to DepthOfCoverage to count fragments (to not double-count overlapping reads of same fragment); DepthOfCoverage should now support ReducedReads; Replace recusrion with loop in DoC/package.scala (for lists longer than 5000 elements) 2012-11-21 15:56:53 -05:00
Eric Banks 2e1a055aca Merged bug fix from Stable into Unstable 2012-11-20 23:20:33 -05:00
Eric Banks c54fc94505 Protect against features that start off the end of the read (otherwise, Arrays.fill fails) 2012-11-20 23:19:59 -05:00
Eric Banks c2efb04657 Merge branch 'master' of github.com:broadinstitute/gsa-unstable 2012-11-20 22:43:15 -05:00
Eric Banks 72e2d569c5 The user can now set the maximum allowable cycle on the command-line with --maximum_cycle_value. This value is (now) enforced in the Cycle covariate and a User Error is thrown if the maximum value is passed (with a helpful error message). Added unit tests to cover this new functionality. 2012-11-20 22:41:57 -05:00