Commit Graph

2598 Commits (dc802aa26f329c335fff1a359cff083e5e214327)

Author SHA1 Message Date
ebanks 0dd65461a1 Various improvements to plink, variant context, and VCF code.
We almost completely support indels. Not yet done with plink stuff.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2926 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-04 17:58:01 +00:00
aaron c8077b7a22 Waypoint check-in: a couple of changes to for Tribble, and adding some options to the integration test for passing in auxillary files that aren’t “%s” command line options.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2925 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-04 16:02:21 +00:00
chartl 6759acbdef Coverage statistics now fully implements DepthOfCoverage functionality, including the ability to print base counts. Minor changes to BaseUtils to support 'N' and 'D' characters. PickSequenomProbes now has the option to not print the whole window as part of the probe name (e.g. you just see PROJECT_NAME|CHR_POS and not PROJECT_NAME|CHR_POS_CHR_PROBESTART-PROBEND). Full integration tests for CoverageStatistics are forthcoming.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2924 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-04 15:00:02 +00:00
hanna 023654696e First pass at handling SAMFileReaders using a SAMReaderID. This allows us to firewall
GATK users from the readers, which they could abuse in ways that could destabilize the GATK.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2923 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-04 00:59:32 +00:00
rpoplin b241e0915b Incremental update to VariantOptimizer. Refactored parts of the clustering code to make it more clear. More comments.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2922 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-03 20:33:35 +00:00
asivache 073fdd8ec7 Let's try not to die suffocating when a bad region with humongous coverage is encountered. New option: -maxNumberOfReads (--mnr), with default of 10,000. If count of reads cached in the current window reaches the specified limit, the whole window is immediately shifted by the whole window length and all currently cached reads are dropped. NOTE: this also means that we are not going to call ANY indels from the current window, even though we could try using just the reads cached so far.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2921 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-03 17:34:30 +00:00
chartl 6ca6c98980 Can just give PickSequenomProbes a dbsnp rod to mask
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2920 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-03 16:50:58 +00:00
aaron ca2cd9d4f5 a little clean-up: move setting the bases of generated reads into Artificial SAM Utils now that the clean read injector test is gone.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2919 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-03 16:31:45 +00:00
aaron 790d2a7776 adding the initial ROD for Reads support; more convenience methods in ReadMetaDataTracker to come.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2918 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-03 15:56:44 +00:00
ebanks 0e9a6826b0 Update to VCF code to get it up to spec.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2917 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-03 06:12:42 +00:00
ebanks 317fac8dff Better error message for --assume_single_sample_reads screw up
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2916 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-03 01:03:10 +00:00
hanna 104f4f7383 Mediocre implementation of reader pooling within the SAM data source. Will fix this week.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2915 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-02 22:35:02 +00:00
ebanks 74a5223b11 oops - didn't mean to check this in
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2914 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-02 20:28:22 +00:00
ebanks 5f3c80d9aa 1. To make indel calls, we need to get rid of the SNP-centricity of our code. First step is to have the reference be a String, not a char in the Genotype. Note that this is just a temporary patch until the genotype code is ported over to use VariantContext.
2. Significant refactoring of Plink code to work in the rods and use VariantContext.  More coming.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2913 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-02 20:26:40 +00:00
ebanks 6ceae22793 utility methods for genotype counts
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2912 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-02 20:23:41 +00:00
kcibul 7578678f99 refactored to provide a sum of mismatch quality scores capability as well (used by Cancer)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2911 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-02 16:40:03 +00:00
aaron 232fcf829a removing the unsupported VCF validator
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2909 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-02 15:45:33 +00:00
hanna 1b572b192a Stopgap fix for temporary problems sharding when indexless. A more compelling solution will come later this week.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2908 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-02 02:59:14 +00:00
hanna 75a541b479 Fix nasty issue where shard boundaries aren't properly clipped during locus traversals.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2907 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-01 23:31:58 +00:00
rpoplin af6e476df5 Copyright compliant
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2905 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-01 15:29:34 +00:00
rpoplin 3a863d3e8c Initial check in of VariantOptimizer in playground. There is a Gaussian Mixture Model version and a k-Nearest Neighbors version. There is still lots of work to do. Nobody should be using it yet.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2904 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-01 15:26:18 +00:00
hanna 6133d73bf0 Locus (non-intervalled) traversal with new sharding system.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2903 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-01 01:58:44 +00:00
hanna 80f5d2829d Support for read interval sharding with proper filtering.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2902 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-27 20:26:34 +00:00
aaron d8fedd59be docs, cleanup, and some improvements to the iterators.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2901 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 22:36:04 +00:00
hanna b69c2d0f70 Cleanup. Remove some unnecessary methods.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2900 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 21:50:48 +00:00
hanna 30eb28886b Basic functionality for intervaled reads in new sharding system. Not currently filtering out cruft, so
the mode of operation is currently queryOverlapping rather than queryContained.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2899 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 21:41:55 +00:00
chartl cfff486338 This commit is for Kiran
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2898 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 18:18:38 +00:00
chartl 87f8fb7282 Quick commit in advance of Aaron's. Just a bunch of refactoring (private classes separated out, put in proper package). Also support added for coverage by read group rather than sample.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2897 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 16:39:47 +00:00
aaron 622554d7bd disable a part of the ROD for Reads code until the rest of the system goes live
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2896 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 16:15:42 +00:00
chartl 496ecc8186 Change in how overall coverage and means are stored in the DOCS object; change from keeping track of sample mean coverage to keeping track of sample total coverage (calculate means at the end)
This is a mid-way commit for Aaron



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2895 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 15:51:12 +00:00
hanna 1017a38f38 Initial refactoring of read traversal to make it easier to drop in intervalled reads traversal.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2894 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 15:09:09 +00:00
depristo 9a6b384adb Support for no qual fields in VCF; better support for Mendelian violation calculations
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2893 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 00:29:17 +00:00
aaron 246fa28386 RODs for reads phase 2: modified RODRecordList to implement List<ReferenceOrderedDatum> so I could stub it out for testing, added a FlashBackIterator which is needed to prevent the ResourcePool from opening infinity+1 iterators, and some other interfaces to make unit testing much smoother.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2892 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 22:48:55 +00:00
chartl 591102a841 Don't close the output stream if we're printing to stdout
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2891 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 21:50:58 +00:00
chartl 10cc71ceb0 Another midway commit for teh engineerz
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2890 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 21:24:02 +00:00
hanna 3289826892 Fix chartl's issue -- reduceInit() is sometimes called unnecessarily at the
end of a traversal.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2889 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 21:02:18 +00:00
chartl 3d92e5a737 Initial commit of integration test(s) for CoverageStatistics, currently in progress [midway commit is for Matt]
Modifications to CoverageStatistics - now includes and extends much of the behavior of DepthOfCoverage (per-base output, per-target output).

Additional functionality (coverage without deletions, base counts, by read group instead of by sample) is upcoming.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2888 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 20:25:07 +00:00
hanna 553d39bb00 Clean up the code a bit following the introduction of reduceByInterval.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2887 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 01:20:22 +00:00
hanna 199b43fcf2 Reduce by interval alterations to interface with new sharding system. This checkin with be followed by a
simplification of some of the locus traversal code.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2886 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 00:16:50 +00:00
asivache 2572c24935 We were still dropping halves of some pairs, in which both reads were assigned to the same position. Fixed.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2885 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-24 23:13:23 +00:00
aaron fef1154fc8 starting on RODs for Reads: made RODRecordList implement list<RODatum> (so we can sub in fake lists during testing), and removed unnecessary generic-ness. Removed BrokenRODSimulator, which isn't being used.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2884 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-24 22:11:53 +00:00
chartl 5df37968de Simplification of code segments; slight alteration to per-locus tabulation; added to-do items for cosmetic changes (mostly binning options and settigns)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2882 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-24 05:20:18 +00:00
asivache 27d3ef9458 Got rid of annoying commented printouts; no functional changes
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2881 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-24 05:12:30 +00:00
asivache d73bc490c2 Do not build alt consensuses from insertions that have an N in the inserted sequence. Seems to cause problems rather than solve any
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2880 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-24 03:00:26 +00:00
asivache 94d74d4f78 Multiple instances of the same consensus were all living happily together in the set of alt consensuses. As the result, we have been taking considerable performance hit from trying to align all reads to those instances over and over again. Fixed. Only one copy of any given alt consensus is now stored.
in class Consensus: 
1) use Arrays.equals() to compare java arrays!!
2) if object overrides equals() it also MUST provide appropriate hashCode() (thanks, Matt) 

As a side effect, a number of commented out debug prints are committed, still need them...

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2879 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-24 02:09:50 +00:00
chartl 1f673e9fab Float the bins with the given lower bound
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2878 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-23 20:48:53 +00:00
chartl 119d449b46 Formatting changes
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2877 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-23 20:43:15 +00:00
chartl 173956927b Summaries generated for firehose from DoC output have been migrated to its own walker to calculate aggregate coverage statistics in a parallelizable and fast way. This is an initial commit, bug-fixing and testing is upcoming.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2876 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-23 18:41:02 +00:00
hanna 491b30e8de Eliminate a few stray loci that weren't being filtered out.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2875 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-23 18:00:52 +00:00
hanna fff15944fe Bug fix. Stopping condition of recurrence stopped too soon in some cases where an interval *contained* zero reads but *overlapped* with some reads.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2874 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-23 15:58:54 +00:00
hanna a0e8de40cf Bug fix: at one locus in the dataset, two reads were dropped.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2872 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-22 23:54:52 +00:00
aaron 5546aa4416 adding code to deal with the off-spec situation where our minimum likelihood is above the GLF max of 255.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2871 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-22 22:27:39 +00:00
hanna 88d0677379 Misc correctness enhancements: develop the bin selector into a recursive algorithm and return a shard when reads are missing. Also improve the performance of the read filter that clips reads not actually present in the shard.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2870 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-22 22:19:06 +00:00
ebanks 8b555ff17c Killed the old cleaner code. Bye bye.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2868 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-22 20:49:58 +00:00
kshakir 3738b76320 Added a playground concordance analyzer for summarizing VariantEval across a group.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2867 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-22 20:28:52 +00:00
ebanks a640bd2d79 ignore uninteresting extended events
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2866 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-22 19:55:46 +00:00
rpoplin 32e5dceef9 Moving comments.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2865 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-22 19:27:31 +00:00
alecw b236714c8a Optimization - Added method to Covariates: void getValues( SAMRecord read, Comparable[] comparable ) which takes an array of size (at least) read.getReadLength() and fills it with covariate values for all positions in the given read. Made CovariateCounterWalker and TableRecalibrationWalker use this method instead of calling getValue(..) for each covariate and each offset.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2863 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-22 17:35:25 +00:00
ebanks 32d14d988e Overload parseIntervalRegion() to allow for the interval merging rule to be passed in (so one is not required to use the value from the GATK arg collection).
Now the IndelRealigner can use this functionality without being forced to merge  abutting intervals (which was actually causing a problem with the cleaning).



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2862 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-22 04:13:54 +00:00
hanna cc09f48cd8 Correctness fix: index can concat chunks around shard edges, and my code didn't account for that.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2861 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-19 21:44:33 +00:00
chartl 0e05a3acb0 Adding depth of coverage features to firehose summary tools
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2860 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-19 19:47:16 +00:00
hanna 71f18e941f Significant performance improvements made by subtracting out the contents of the prior highest-level bin.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2859 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-19 16:46:16 +00:00
rpoplin 3e0e7aad2d Removing debug statement. oops.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2858 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-19 15:26:22 +00:00
rpoplin 7f19ff1fa1 Added a new option in the recalibrator to be used by people who have SOLiD data in which only a few of the reads have no-calls in the color space. These reads will be skipped over and left in the bam file untouched.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2857 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-19 15:25:23 +00:00
aaron b1a4e6d840 removing non-ascii characters from my Copyright and from VariantEval2Walker
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2856 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-18 18:54:36 +00:00
aaron 33ae256186 a start to some of the infrastructure for Tribble, including dynamic detection of new RMD; not nearly wired in or complete yet.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2855 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-18 18:43:52 +00:00
ebanks bbbad79f8c Forgot to remove debugging code
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2854 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-18 18:12:58 +00:00
ebanks 7669eaaeb3 Optimizations to the cleaner algorithm; reduce total runtime by almost 20%.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2852 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-18 18:10:56 +00:00
ebanks 79ab7affda - Change sortOnDisk option to sortInMemory
- Fix horrible cleaner bug
- Trivial optimizations to cleaner code - more significant ones coming soon.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2850 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-17 20:52:57 +00:00
ebanks 2520889cb3 Check for bad intervals and don't emit them
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2849 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-16 21:42:36 +00:00
aaron 653f70efa2 added methods to validate an interval before you try to make a GenomeLoc: boolean validGenomeLoc().
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2846 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-16 20:35:35 +00:00
chartl 01af3d0663 Update an error message :)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2842 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-15 23:24:06 +00:00
jmaguire 81313d9452 added class VCFMerge
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2840 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-15 14:41:50 +00:00
jmaguire 0ef50bcae7 - update to match recent changes in the VCF parser
- compute Het Error Rate in VCFConcordance
- changes to the frequency-specific optimizer




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2839 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-15 14:27:01 +00:00
depristo 8072e9aed5 should never commit without running intergration tests.
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2010-02-12 23:42:37 +00:00
depristo a1a3d5fcb0 Support for reading in table of rsIDs -> dbSNP builds to back generate a dbSNP build X from a single file. Very useful indeed. dbSNP -> VC now captures the rsID in the context
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2837 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 22:40:55 +00:00
kcibul 28f24ca2ae made some private member/methods protected to allow for subclassing
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2010-02-12 21:16:00 +00:00
hanna 232d884578 Got back most of the performance lost when I fixed the dropped reads problem.
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2010-02-12 19:59:56 +00:00
chartl 04a2784bf7 Initial commit of tools under development for data QC through firehose.
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2010-02-12 19:13:24 +00:00
hanna 77af5822d4 Correcting my incomplete understanding of how the BAM file index actually works.
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2010-02-12 16:15:19 +00:00
depristo 5f74fffa02 Massive improvements to VE2 infrastructure. Now supports VCF writing of interesting sites; multiple comp and eval tracks. Eric will be taking it over and expanding functionality over the next few weeks until it's ready to replace VE1
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2832 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 15:26:52 +00:00
depristo 197dd540b5 added root GATKData variable
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2831 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 15:25:34 +00:00
ebanks c6f6948f9d Haiku:
Eric is a fool.
Matt found his really dumb bug.
Eric is humbled.



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2010-02-12 04:51:56 +00:00
rpoplin ecebf0bc62 Bug fix for null pointer exception in AnalyzeAnnotations if -name argument isn't specified
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2010-02-11 18:39:26 +00:00
mmelgar ad608d0e9d Cleaned up documentation on SecondaryBaseTransitionTableWalker and added Read Group and Allele Balance to the info.
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2010-02-11 17:20:35 +00:00
hanna 34e566c90d Fixed bug where new sharding system wasn't grabbing the reads that start at the end of a bin. Caused by what I currently believe to be a bug in Picard -- will verify with Alec.
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2010-02-11 17:00:04 +00:00
ebanks 96fee7cf7a Disabling input of known indels for use as alternate consenses. When we get rods in a read traversal, it will be trivial to hook it into the cleaner (the code is already there).
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2010-02-11 15:52:21 +00:00
ebanks a4a2c9b172 Deal with bad input; also N-way out isn't default.
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2010-02-11 03:44:56 +00:00
hanna dc885ba386 Fix for some correctness bugs found during early performance testing, phase 1.
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2010-02-10 22:32:25 +00:00
depristo c66861746a improvements to ve2, including more meaningful mendelian violation counting. Support for VCF emitted interesting sites, annotated according to the evaluations themselves. Basic intergration test for VE2 started
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2010-02-10 16:12:29 +00:00
rpoplin 3de72daa88 Removing an accidently added import statement.
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2010-02-10 15:54:24 +00:00
rpoplin 0b1e243a7b CountCovariates now sorts the list of standard covariate classes coming from PackageUtils.getClassesImplementingInterface(). As a result some of the integration tests now make use of -standard
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2010-02-10 15:52:20 +00:00
ebanks 6652b992f7 The new cleaner can now use known indels to create alternate consenses for cleaning.
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2010-02-10 04:39:15 +00:00
hanna 0250338ce7 Basic use cases for merging BAM files with the new sharding system work.
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2010-02-09 22:14:37 +00:00
depristo 934d4b93a2 VariantContext to VCF converter. BeagleROD, and phasing of VCF calls. Integration tests galore :-)
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2010-02-09 19:02:25 +00:00
andrewk 369cc50802 Added playground walker that does a basic concordance check between two VCF files - an eval and a truth file - across all samples in the eval file. Produces per-sample, per-locus debug info and simple concordance stats. This is not meant to be extended, but rather used for validating the HapMap to VCF conversion in preparation for retiring GFF-based HapMap data.
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2010-02-09 02:41:18 +00:00
depristo 94f892ad42 VCF->beagle and VCF phasing using beagle input. Appears to work fairly well. VariantContexts now support phased genotypes.
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2010-02-09 01:22:05 +00:00
depristo 457568485a simple Beagle input ROD
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2010-02-09 01:21:04 +00:00
hanna 57b8c9a53c Supporting infrastructure for merging SAM files. Not yet integrated into the datasource.
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2010-02-08 23:59:38 +00:00
kshakir fc810a1800 Updated VCF Reader to parse VCFs according to the VCFv3.3 spec. Column headers are tab separated since sample names might have spaces.
Updated test files in /humgen/gsa-scr1/GATK_Data/Validation_Data/*.vcf to remove spaces except for when they are supposed to be in the sample name.
Added @Test before VCFReaderTest.testHeaderNoRecords()

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2010-02-08 22:55:59 +00:00
chartl 935e76daa1 Minor changes to oneoff walkers. PlinkRod altered but still commented.
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2010-02-08 18:49:56 +00:00
hanna 21369869b7 Extend regex that supports every 'word' character to use any printable character except ':'.
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2010-02-08 03:29:55 +00:00
ebanks 4fe851a83d Optimization: don't keep scoring an alternate consensus if it's already worse than the best alt seen so far.
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2010-02-07 05:06:32 +00:00
ebanks ca1917507f Various improvements and fixes:
In indel cleaner:

1. allow the user to specify that he wants to use Picard’s SAMFileWriter sorting on disk instead of having us sort in memory; this is useful if the input consists of long reads.

2. for N-way-out mode: output bams now use the original headers from the corresponding input bams - as opposed to the merged header.  This entailed some reworking of the datasources code.

3. intermediate check-in of code that allows user to input known indels to be used as alternate consenses.  Not done yet.

In UG: fix bug in beagle output for Jared.



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2010-02-07 04:21:04 +00:00
depristo 3b1ab86d11 Added generic interfaces to RefMetaDataTracker to obtain VariantContext objects. More docs. Integration tests for VariantContexts using dbSNP and VCF. At this stage if you use dbSNP or VCF files only in your walkers, please move them over to the VariantContext, it's just nicer. If you've got RODs that implemented the old variation/genotype interfaces, and you want them to work in new walkers, please add an adaptor to VariantContextAdaptors in refdata package. It should be easy and will reduce burden in the long term when those interfaces are retired.
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2010-02-06 16:26:06 +00:00
depristo 995d55da81 now uses the new RMDT getVariantContext() functions instead of doing the work itself.
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2010-02-06 16:23:06 +00:00
depristo 33760834d6 commented out inactive (due to string ==) but actually incorrect code. Sometimes two wrongs do make a right
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2010-02-06 16:22:26 +00:00
hanna c7e006a996 Bug fixes for interval batching in sharding system. Sharding system now batches intervals and passes
basic tests for small and large intervals and intervals that cross bin boundaries.  Currently works
only with a single BAM file.


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2010-02-05 21:47:54 +00:00
asivache a1d5a384f4 Reverting the last reversal. bestConsensus points to something also kept in a set, so just reassigning it will NOT automatically destroy the underlying data; explicit clearing of unneeded data reinstated. STUPIDO!!!
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2010-02-05 18:08:53 +00:00
asivache cf7e6d0c0b Memory-saving change, same as in old IntervalCleaner (if alt consensus does not beat the best one, destroy its data immediately)
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2010-02-05 18:05:04 +00:00
asivache df0be25afb ooops, no need to destroy old best's data explicitly, it will be done automatically of course
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2010-02-05 18:03:16 +00:00
asivache 9f44018b7d Reducing memory footprint: if alt consensus does not beat the best alt observed so far, destroy its data immediately, instead of keeping them around. If new alt is better than the old best, then destroy the old best right away instead.
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2010-02-05 17:58:54 +00:00
rpoplin be33d1852c Reverting
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2010-02-05 15:57:09 +00:00
depristo af8c47fc2f Fixing up testVariantContext for integration tests for variant context. Printing of VCs and genotypes now stable using sorting. Cleaned up comments in quality score by strand. RefMetaDataTracker now directly allows walkers to obtain VariantContexts using the simple Collection<VariantContext> getAllVariantContexts(GenomeLoc curLocation, EnumSet<VariantContext.Type> allowedTypes, boolean requireStartHere, boolean takeFirstOnly) function. VCF and dbSNP VariantContexts now officially supported. Other importan types can be added to the adapator system in refdata package. Integration tests later today
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2010-02-05 15:42:54 +00:00
rpoplin 0d8d6e0a14 Ti/Tv module in VariantEval shows known and novel ratios if possible
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2010-02-05 15:37:40 +00:00
depristo 1494dc875f fixing up tests. Moves are complete
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2010-02-05 14:24:00 +00:00
depristo c6d86da4b8 almost managed to move things around perfectly in move go
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2010-02-05 14:18:26 +00:00
depristo e0af3bf761 updating back names
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2010-02-05 13:53:45 +00:00
depristo 777617b6c7 managed to actually move the files too! Damn you svn
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2010-02-05 13:47:19 +00:00
depristo 8938a4146d moving varianteval2 to it's own dir
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2010-02-05 13:37:04 +00:00
depristo 69132c81aa Documentation. Plus nicer structure to adaptors. Intermediate checkin before move into core
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2010-02-05 13:33:27 +00:00
hanna e53432d54d Checkpoint for combining adjacent intervals into the same shard.
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2010-02-05 02:48:02 +00:00
asivache 0d347d662a More plumbing: if after the shift window contains indel(s) at the first position, do not throw an exception, just print the warning (we can not deal with this situation!!) and discard those indels without trying to call them. This situation will most probably arise after forced shift over a messy region anyway.
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2010-02-04 21:06:28 +00:00
depristo 1d86dd7fd1 Interface changes following Matt's advice. VariantContexts are now immutable, and there are special mutable versions, in case you need to change things. AttributedObject now a InferredGeneticContext and package protected. VariantContexts are now named, which makes them easier to use with the rod system
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2010-02-04 20:55:49 +00:00
asivache e7b710791f OK, we finally ran into a messy dataset where we can not find a place to shift the window to: there's an indel at every position. Don't panick, don't throw an exception, just ignore the whole window completely, we do not want to call there.
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2010-02-04 19:49:56 +00:00
asivache 152f65b362 Do not die in --cycleOnly mode when the lane is not paired end, just count all single end basequals into the first column and leave the second column filled with 0s
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2778 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-04 19:48:12 +00:00
asivache a3cd56897d moving older versions of the oneoff project to archive, bye-bye
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2010-02-04 19:46:27 +00:00
asivache f7e7bcd2ef Oneoff project, totally unrelated to anything
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2010-02-04 19:44:50 +00:00
hanna 334da80e8b Fixed Mark's bad checkin.
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2010-02-04 12:40:58 +00:00
depristo 1ce0f06216 temp checkin for reorganization
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2010-02-04 11:10:24 +00:00
ebanks 83b9d63d59 1. Added functionality to the data sources to allow engine to get mapping from input files to (merged) read group ids from those files.
2. Used said mapping to implement N-way-in,N-way-out functionality in the new indel cleaner.  Still needs more testing (to be done after vacation but preliminary tests look good).
3. Fixes to VCF validator: ignore case when testing VCF reference base against true reference base and allow quals of -1 (as per spec).



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2010-02-04 04:12:49 +00:00
rpoplin 210c4c9913 AnalyzeAnnotations now makes plots for the value in the QUAL column as if it were an annotation.
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2010-02-03 20:33:15 +00:00
hanna 3f35e181d5 Add an alternate implementation of the BAM file reader that keeps the entire index in memory. Initial revision of BAMFileStat, a tool to inspect BAM file BGZF blocks and index entries.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2769 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-03 19:48:15 +00:00
depristo c89ba7b1a4 improvements to variant eval 2. Now has titv calculations and mendelian violation detect support. we only make ~80 mendelian violations in 380K calls for the YRI trio, in case you are interested
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2768 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-03 16:03:19 +00:00
aaron af7cd9cf58 some very old tests relied on cancer data that got moved. Reset one to use data in the validation directory, the other to the artificial sam utils (the best approach).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2767 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-02 23:13:10 +00:00
depristo fa2cd432fd better printing in VE2. Added support for TiTv analysis
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2010-02-02 21:20:29 +00:00
depristo cbbc0e98d2 fix for broken imports
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2010-02-02 15:20:27 +00:00
depristo 681c196097 V2 of VariantEval2. Framework is essentially complete., very simple and clear now compared to VE1. Support for any number of JEXL expressions. dbSNP% evaluation added to show paired comparison evaluation. Pretty printing output tables. Performance is poor but can easily be fixed (see todo notes).
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2010-02-02 14:18:46 +00:00
hanna 9dbdfff786 Moved VariantEval to core. Updated integration test md5s to reflect new Analysis class names.
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2010-02-02 00:22:15 +00:00
asivache 4ddbaeed07 In attempt to reuse: --pairCountsOutput is now optional, if not specified then only per-locus statistics is collected; --silent - do not echo results into stdout; --minMapQ - count only bases coming from reads mapped with specified quality or better; --blacklistedlanes - do not count reads/bases coming from specific lanes.
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2010-02-01 22:05:19 +00:00
chartl 2c4f709f6f Bunch of oneoff stuff that I don't want to lose. Also:
VCFRecord - "." dbsnp-ID entries now taken into account (thought these were represented as null; but I guess not)
VCFGenotypeRecord - added a replaceFormat option; since intersecting Broad/BC call sets required genotype formats also be intersected (no changing on-the-fly)
VCFCombine - altered doc to instruct user to give complete priority list (was throwing exception if not)




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2010-02-01 21:35:10 +00:00
asivache 421282cfa3 Convenience method: getMappingFilteredPileup(int minMapQ)
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2010-02-01 21:19:53 +00:00
ebanks 506d39f751 The UG calculations are now driven by an independent engine.
This completely separates the genotyper walker from other walkers.



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2010-02-01 20:57:31 +00:00
hanna d8e75cf631 Fix for Kiran's memory issue running UG...turned out to be a particularly bad interaction between @By(Reference) traversals and TreeReduce.
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2010-02-01 20:27:06 +00:00
depristo d9671dffba Documentation for VariantContext. Please read it and start using it.
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2010-02-01 17:49:51 +00:00
asivache 990af3f76e Will now work with simplest tabular format - genotype string ("+ACTT") does not have to be followed by ':'
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2010-02-01 15:40:01 +00:00
ebanks e0808e6c37 Moved old EM model to archive
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2010-02-01 02:55:32 +00:00
rpoplin 64fc76e4bf Added an option to AnalyzeCovariates to set the max value of the histograms to make them easier to directly compare.
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2010-01-31 23:13:57 +00:00
ebanks f6da57dc79 1. For Matt: JIRA GSA-270. Other walkers needing to call into the Unified Genotyper now use static methods (e.g. runGenotyper()) instead of calling initialize and map.
2. Set the default confidence cutoff to 50 (instead of 0).



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2010-01-31 21:14:57 +00:00
ebanks ce9d3dcefb Removing deprecated version of indel genotyper (putting it in archive in case we need to reproduce original 1KG indel calls for some reason).
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2010-01-31 14:05:36 +00:00
depristo 3d45457595 VariantEval2 test framework implemented; Kiran is experimenting with the system. Not for use by anyone else. VariantContext appears to work well; I'll release it next week for general use following docs of the functions. Removing newvarianteval and other classes to avoid any future confusion. Update to TraverseLoci and RodLocusView to simplify a few functions and to correct some minor errors. All tests pass without modification.
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2010-01-30 20:51:24 +00:00
chartl 236764b249 Major (and useful) changes to MultiSampleConcordance:
1) Now cares about Genotype filtering. If it is flagged as filtered, it can count as a FP/FN/TP; but goes into a "non-confident genotype" bin, rather than het/hom.

2) Can give it a Genotype Confidence flag (-GC) which will automatically filter genotypes in the way above for quality > Q for "-GC Q"

3) Can give it an -assumeRef flag. For sites only in the truth VCF (that don't even appear in the variant VCF), that locus will be treated as confident
   ref calls for all individuals in the variant VCF; and the calculators updated accordingly.

*** Important: Default behavior is that sites unique to the truth VCF are considered no-call sites for the variant. This flag can help get aroudn that;
    however the safest way to run this is to have a variant VCF with calls at each and every locus, if that is possible.

VCFGenotypeRecord -- added an isFiltered() call to automate looking up the FILTERED flag for VCF v3.3

SimpleVCFIntersectWalker - basic outline for a walker I'm working on tonight.




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2010-01-30 01:18:31 +00:00
jmaguire ea7e737441 Two new annotations:
1. LowMQ: fraction of reads at MQ=0 or MQ<=10.
	2. Alignability: annotate SNPs with Heng's (or anyone else's) alignability mask.



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2010-01-29 23:23:00 +00:00
chartl 97f60dbc4b Moving stuff around. ( core;playground ) ----> ( oneoffs ). I've been a bad boy, sullying the core codebase.
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2010-01-29 22:50:03 +00:00
rpoplin 16da5011c0 Added a new option for indicating the mean number of variants on the AnalyzeAnnotations plots. This way one can say, for example, filtering at this point will keep 75 percent of all the variants.
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2010-01-29 21:58:31 +00:00
hanna 668c7da33d Bug fix in custom override of queryOverlapping.
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2010-01-29 21:35:59 +00:00
rpoplin c6cc844e55 Added -name argument to AnalyzeAnnotations that allows one to specify the name of the annotation to be used on the plots. Instead of seeing AB and DP, one can add -name AB,AlleleBalance -name DP,Depth
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2010-01-29 20:48:53 +00:00
depristo 62a80f2b6f fixed out of date tests. Also, tests uncovered a subtle bug in new implementation that was also fixed
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2010-01-29 20:03:48 +00:00
rpoplin 4f29a1d4f6 AnalyzeAnnotations now plots true positive rate instead of percentage of variants found in the truth set. Committing GCContentCovariate to help people experiment with correcting the pilot3/Kristian base calling error mode in slx.
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2010-01-29 20:01:56 +00:00
aaron ac2a207b0b added a wrapper exception for anything that goes wrong in VCF parsing; this way the problematic file line is emitted, no matter what happens. Makes debugging a lot easier, especially in large files.
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2010-01-29 19:58:51 +00:00
hanna e7f5c93fe5 Cleaning up the inheritance hierarchy from the previous commit.
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2010-01-29 19:13:36 +00:00
depristo 88495a39d4 better formating
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2010-01-29 15:38:21 +00:00
depristo 1993472b38 Just like VariantFiltration but lets you match info fields out of the VCF instead of annotating them.
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2010-01-29 15:38:03 +00:00
depristo 0a7426c29c Computes SNP density over the genome. Doesn't work with intervals
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2010-01-29 15:36:49 +00:00
depristo 9decd20f46 Fix to priors to allow lower het values for mouse guys; no intergration test changes
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2734 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-29 15:36:12 +00:00
chartl d57a86ad41 Not nearly as badass as it looks. The problem I mentioned yesterday with "bleeding in" of samples comes from VCFUtils and SampleUtils looking for all VCF-class RODs in the tracker, and stealing the name from them. I have introduced a new HapmapVCF - type rod for use
when you want to protect your VCF header from being infected by the samples in a bound hapmap VCF. Changes are as follows:

VCFRecord - minor change to adapt isNovel() to the case where the dbsnp ID field is empty, but the info field has DB=1

HapmapVCFRod - introduced for the reason at the top

RODRecordIterator - was: catch ( Exception e ) { throw new StingException("long ass message") }
                 is now: catch ( Exception e ) { throw new StingException("long ass message",e) }
                    to permit full stack ejaculation.

RodVCF - Now with more brackets!

ReferenceOrderedData - registering HapmapVCF as a bindable string

VariantAnnotator - There's an extra space on a line. And some new brackets.



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2010-01-29 15:19:50 +00:00
depristo 5aaf4e6434 VariantFiltration now accepts any number of --name --filter expressions, and annotates the VCF file with each name that matches. Very useful
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2732 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-29 12:13:08 +00:00
ebanks 01e73fc39e Yuck - Picard's SAMRecord Comparator only deals with mapped reads. Adding an extended version that works for all reads.
After adding some more minor changes to the new realigner it now gets the same exact results as the original version - except that sometimes it doesn't clean when it shouldn't!
More testing coming.



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2010-01-29 07:49:47 +00:00
hanna 3d922a019f Basic support for very simple index-driven locus traversals. Interface has been changed to
support batched intervals in a single shard, but intervals are not yet compressed into a single
shard.


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2010-01-29 03:14:26 +00:00
asivache 4810e9c9cd And now the DOCS!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2729 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-28 23:21:33 +00:00
asivache 40262e2070 Now calls single-sample indels too, with all the V2 level stats and bells. This officialy obsoletes IndelGenotyperWalker (V1). In addition, the alignments spanning beyond the contig end are now completely ignored (with a user warning), this applies to both single-sample and paired (somatic) calls. You just wait, Eric, I'll get you the docs with the next commit!
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2010-01-28 22:28:02 +00:00
rpoplin 79c4cc1db7 AnalyzeAnnotations now breaks out titv by calls in hapmap and also plots true positive rates. Any RODs passed in whose name starts with 'truth' is considered to be the truth set.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2726 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-28 21:41:23 +00:00
chartl 7a10c40fb3 Much clearer (and, like, not totally incorrect) implementation of isNovel
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2725 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-28 21:16:21 +00:00
chartl 8de6a8d246 Lots of changes; all to do something relatively minor.
1) Changed VCF/RodVCF to allow for inquiries to whether or not the site is novel; isNovel() looks at the ID field, and those members of the info field that indicate membership in dbsnp, hapmap2, or hapmap3; and if none can be found, returns true.

2) Changed VariantAnnotator to annotate hapmap2 and hapmap3, if you bind rods to it with those names. Works in the same way as DBSNP does -- if you give it a rod named "hapmap2" it'll annotate membership in it. -- Passes integration tests

3) Changed UnifiedGenotyper to do the same thing (since it uses Annotations as a subroutine) -- Passes integration tests

4) Changed MultiSampleConcordanceWalker to take a flag --ignoreKnownSites (or -novels) to examine concordance only on sites that are not marked as in dbSNP or in Hapmap in the variant VCF

5) Changed VCFConcordanceCalculator (the object MultiSampleConcordanceWalker runs on) to output Concordant_Het_Calls and Concordant_Hom_Calls separately, rather than combined as Concordant_Calls

6) AlleleBalanceHistogramWalker -- I don't know what i did to this thing. I've been jerry rigging System.outs to do stuff it was never really intended to do; so there's probably some dumb System.out.print("HI I AM AT LOCUS:"+loc) stuck somewhere. It compiles at any rate.



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2010-01-28 21:06:56 +00:00
ebanks 6f11fe442a Sync with Andrey's changes
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2010-01-28 20:49:38 +00:00
asivache db429e1096 Some alt consenses may have cigar string starting with an insertion. Not a bug, strictly speaking, since the cleaner had been detecting this and crashing deliberately. Now it knows how to deal with this special case though. Also, uppercase the ref before using it in SW aligner!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2722 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-28 18:53:02 +00:00
depristo 956b570c8e V5 improvements to VariantContext. Now fully supports genotypes. Filtering enabled. Significant tests throughout system. Support for rebuilding variant contexts from subsets of genotypes. Some code cleanup around repository
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2721 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-28 18:37:17 +00:00
depristo 9876645a5d Now drives the walker by reference, not by reads, so we see even loci with no reads. This allows us to accurately calculate the true total callable area
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2720 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-28 11:12:46 +00:00
ebanks 1dd9996f3a New realigner now completely uses bytes, plus misc fixes. Still not ready for use.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2719 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-28 04:17:20 +00:00
depristo f6bca7873c V3 of VariantContext. Support for Genotypes and NO_CALL alleles. QUAL fields fully implemented. Can parse VCF records and dbSNP. More complete validation. Detailed testing routines for VariantContext and Allele.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2718 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-28 04:10:16 +00:00
chartl 23fc9737b4 Added the ability to filter out variant (not truth) calls based on read depth. Using -NLD 5 will not update concordant counts for calls with 0, 1, 2, 3, or 4 reads supporting them. Not to be used with VCF files that do not have DP in the format field.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2716 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 23:28:04 +00:00
chartl 1b9184a1c7 Added a multisample concordance walker which takes the place of the VCF python library I've been using. Takes a truth VCF and a variant VCF and outputs A TSV that looks like this:
Sample_ID       Concordant_Refs Concordant_Vars Homs_called_het Het_called_homs False_Positives False_Negatives_Due_To_Ref_Call False_Negatives_Due_To_No_Call
NA19381 491     294     2       0       0       0       1
NA19451 489     298     1       0       0       0       0
NA19463 486     289     2       3       1       4       3
NA19376 488     296     1       0       2       0       1
NA19317 489     284     5       3       3       3       1


This walker will be merged with GenotypeConcordance once it's clear how to do so. 



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2010-01-27 22:59:17 +00:00
asivache bd11060e72 Ups, I did it again. Fixing the bug introduced in a previous commit: use correct length of the indel event.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2713 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 21:51:54 +00:00
ebanks fddca032bb Initial commit of v2.0 of the cleaner. DO NOT USE. (this means you, Chris)
Cleaned up SW code and started moving over everything to use byte[] instead of String or char[].

Added a wrapper class for SAMFileWriter that allows for adding reads out of order.

Not even close to done, but I need to commit now to sync up with Andrey.



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2010-01-27 21:36:42 +00:00
rpoplin b8ae083d1b AnalyzeAnnotations creates a plot of dbsnp rate as a function of the annotations.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2711 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 21:08:33 +00:00
rpoplin 3999a8d2c8 IntelliJ no longer complains that my methods are too complex to analyze.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2708 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 20:12:13 +00:00
rpoplin fc4285f9fd AnalyzeAnnotations seems to be popular so I've rewritten the guts to be easier to extend and maintain.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2707 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 19:30:31 +00:00
hanna fa3589e5c5 Update our error messages to point to getsatisfaction.com/gsa.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2706 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 19:16:28 +00:00
depristo 3399ad9691 Incremental update 2 -- refined allele and VariantContext classes; support for AttributedObject class; extensive testing for Allele class, and partial for VariantContext. Now possible to easily convert dbSNP to VariantContext.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2705 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 17:19:37 +00:00
asivache 3edcefb7fb add _gI and _gD to the indel probe names according to the spec (in the hope that wiki is not obsolete); added optional cmd line param -project_id to prefix all probe names with.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2704 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 17:06:49 +00:00
chartl ed9b7edee3 Changed " to ' to stop the
[javadoc] /humgen/gsa-scr1/chartl/sting/java/src/org/broadinstitute/sting/oneoffprojects/variantcontext/VariantContext.java:99: warning: unmappable character for encoding ASCII
  [javadoc]      *   if one of the alleles is deleted (?-?).

warnings on compile.



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2010-01-27 15:23:55 +00:00
depristo 40c242d2b8 Fix for overflow issues
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2702 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 13:37:16 +00:00
aaron 8453676b71 added a method to AlignmentContext called hasExceededMaxPileup, which you can use to determine if the current site exceeded the maximum pileup size (reads were dropped). Added this as a check to unified genotyper according to Eric's instructions, and added the plumbing to the engine.
Also deleted the FixBamSortOrder package that isn't used anymore.



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2010-01-27 05:17:01 +00:00
rpoplin 4bcdab580c --output_dir has been changed to --output_prefix to give the user more control over the names of the resulting mass of files in AnalyzeAnnotations. The fontsize of the axes is increased. Cumulative filtering plots are removed since the binned filtering plots are much more useful.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2700 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 04:50:54 +00:00
chartl df112e64b8 Minor tweaks
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2010-01-27 04:17:47 +00:00
ebanks 476d6f3076 RealignerTargetCreator is officially live
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2697 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-27 03:41:52 +00:00
asivache 1f64c5d41a Do not slurp the whole set of snp mask sites into memory (gets pretty heavy on full dbSNP!); instantiate a privare ROD iterator instead and drag it across the sites we are designing probes for.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2694 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-26 22:39:46 +00:00
ebanks 47440bc029 - Removed max_coverage argument from UG; Aaron will set it up so that we don't call when the GATK had to drop reads.
- Reimplemented optimization in UG to not call when there are no non-ref bases.
- Compute reference confidence accurately in UG for ref calls.



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2010-01-26 21:56:33 +00:00
chartl 2c8d7b0c44 Forgot the onTraversalDone. That was dumb.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2692 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-26 21:02:46 +00:00
chartl 04e1832968 Added - AlleleBalanceHistogramWalker -- hopefully this'll be able to tell us very clearly whether bad genotype concordance is a result of systematic contamination (consistent wonky allele balances)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2691 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-26 20:57:12 +00:00