Commit Graph

2426 Commits (80f5d2829de0755f15fd7f0e1d2f7b98a67ee63b)

Author SHA1 Message Date
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2838 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2836 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 21:16:00 +00:00
hanna 232d884578 Got back most of the performance lost when I fixed the dropped reads problem.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2835 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 19:59:56 +00:00
chartl 04a2784bf7 Initial commit of tools under development for data QC through firehose.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2834 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 19:13:24 +00:00
hanna 77af5822d4 Correcting my incomplete understanding of how the BAM file index actually works.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2833 348d0f76-0448-11de-a6fe-93d51630548a
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.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2830 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 04:51:56 +00:00
rpoplin ecebf0bc62 Bug fix for null pointer exception in AnalyzeAnnotations if -name argument isn't specified
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2828 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2827 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2826 348d0f76-0448-11de-a6fe-93d51630548a
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).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2825 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-11 15:52:21 +00:00
ebanks a4a2c9b172 Deal with bad input; also N-way out isn't default.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2823 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-11 03:44:56 +00:00
hanna dc885ba386 Fix for some correctness bugs found during early performance testing, phase 1.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2822 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2819 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-10 16:12:29 +00:00
rpoplin 3de72daa88 Removing an accidently added import statement.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2818 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2817 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-10 15:52:20 +00:00
ebanks 6652b992f7 The new cleaner can now use known indels to create alternate consenses for cleaning.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2816 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-10 04:39:15 +00:00
hanna 0250338ce7 Basic use cases for merging BAM files with the new sharding system work.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2815 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-09 22:14:37 +00:00
depristo 934d4b93a2 VariantContext to VCF converter. BeagleROD, and phasing of VCF calls. Integration tests galore :-)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2814 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2813 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2812 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-09 01:22:05 +00:00
depristo 457568485a simple Beagle input ROD
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2811 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-09 01:21:04 +00:00
hanna 57b8c9a53c Supporting infrastructure for merging SAM files. Not yet integrated into the datasource.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2810 348d0f76-0448-11de-a6fe-93d51630548a
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()

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2809 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-08 22:55:59 +00:00
chartl 935e76daa1 Minor changes to oneoff walkers. PlinkRod altered but still commented.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2808 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-08 18:49:56 +00:00
hanna 21369869b7 Extend regex that supports every 'word' character to use any printable character except ':'.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2807 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2806 348d0f76-0448-11de-a6fe-93d51630548a
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.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2805 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2803 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-06 16:26:06 +00:00
depristo 995d55da81 now uses the new RMDT getVariantContext() functions instead of doing the work itself.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2802 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2801 348d0f76-0448-11de-a6fe-93d51630548a
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.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2800 348d0f76-0448-11de-a6fe-93d51630548a
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!!!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2796 348d0f76-0448-11de-a6fe-93d51630548a
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)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2795 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2794 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2793 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 17:58:54 +00:00
rpoplin be33d1852c Reverting
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2792 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2791 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 15:42:54 +00:00
rpoplin 0d8d6e0a14 Ti/Tv module in VariantEval shows known and novel ratios if possible
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2790 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 15:37:40 +00:00
depristo 1494dc875f fixing up tests. Moves are complete
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2789 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 14:24:00 +00:00
depristo c6d86da4b8 almost managed to move things around perfectly in move go
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2788 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 14:18:26 +00:00
depristo e0af3bf761 updating back names
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2786 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 13:53:45 +00:00
depristo 777617b6c7 managed to actually move the files too! Damn you svn
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2785 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 13:47:19 +00:00
depristo 8938a4146d moving varianteval2 to it's own dir
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2784 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 13:37:04 +00:00
depristo 69132c81aa Documentation. Plus nicer structure to adaptors. Intermediate checkin before move into core
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2783 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 13:33:27 +00:00
hanna e53432d54d Checkpoint for combining adjacent intervals into the same shard.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2782 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2781 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2780 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2779 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2777 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-04 19:46:27 +00:00
asivache f7e7bcd2ef Oneoff project, totally unrelated to anything
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2776 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-04 19:44:50 +00:00
hanna 334da80e8b Fixed Mark's bad checkin.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2775 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-04 12:40:58 +00:00
depristo 1ce0f06216 temp checkin for reorganization
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2774 348d0f76-0448-11de-a6fe-93d51630548a
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).



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2773 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2771 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2766 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-02 21:20:29 +00:00
depristo cbbc0e98d2 fix for broken imports
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2765 348d0f76-0448-11de-a6fe-93d51630548a
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).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2764 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-02 14:18:46 +00:00
hanna 9dbdfff786 Moved VariantEval to core. Updated integration test md5s to reflect new Analysis class names.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2762 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2761 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2753 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2740 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2739 348d0f76-0448-11de-a6fe-93d51630548a
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
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2737 348d0f76-0448-11de-a6fe-93d51630548a
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.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2736 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-29 15:38:03 +00:00
depristo 0a7426c29c Computes SNP density over the genome. Doesn't work with intervals
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2735 348d0f76-0448-11de-a6fe-93d51630548a
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.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2731 348d0f76-0448-11de-a6fe-93d51630548a
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!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2728 348d0f76-0448-11de-a6fe-93d51630548a
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