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Author SHA1 Message Date
depristo 8d13597a27 Temporary command-line support to enable rod walkers, if you know what you are doing this is safe. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2505 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-06 12:15:36 +00:00
ebanks d8351cb9fc Give Annotations access to rod data. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2504 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-05 18:53:01 +00:00
ebanks 8b087305f3 Added back the MQ0 annotation - however, it's not yet standard (since mq0 reads are filtered out by default in the genotyper). But it'll work when using the Annotator as a standalone. 
While I'm at it, change getPileup to getBasePileup to remove all of the deprecation warnings.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2502 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-05 17:07:19 +00:00
hanna a4b69d0adf Misc bug fixes. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2501 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-05 14:48:19 +00:00
depristo c209ba55aa More informative error message 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2499 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-05 13:55:20 +00:00
rpoplin 0a6bd5a270 CycleCovariate is now one-based so that 0 and -0 don't collide with each other. Solid recal modes now only change the inconsistent base and the previous base (along the direction of the read) instead of both the bases before and after. Removed estimatedNumberOfBins from the Covariate interface because it wasn't being used. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2498 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-04 20:52:15 +00:00
ebanks ed2fff13aa -Misc improvements to VCF code 
-Small fix to callset concordance


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2497 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-04 02:28:47 +00:00
hanna 29c129aced Added very primitive read fishing walker with lots of hard coding. Fixed 
bugs encountered when testing read fishing in Ecoli.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2496 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-04 00:54:57 +00:00
ebanks 7b702b086f You don't need to be bi-allelic to have a non-ref alt allele frequnecy, but you do have to be a variant. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2495 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-03 22:02:39 +00:00
ebanks b668d32cf1 Updated the min mapping quality and min base quality defaults to be 10 in both cases (and updated all integration tests) as suggested by Mark. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2494 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-03 21:31:04 +00:00
hanna b6ecc9e151 Support for ad-hoc reference sequences. Also reenabled BWA/Java integration test, which was commented out 
and the data backing it up deleted without my knowledge.  Unfortunately, since the data was deleted, I had
to regenerate the data and a new md5.  Hopefully the aligner output is still correct.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2493 348d0f76-0448-11de-a6fe-93d51630548a
 2010-01-02 20:19:14 +00:00
asivache ad549eacfd Now that we changed how deletions are represented, got to update MD5... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2491 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 22:00:58 +00:00
asivache 46362ce532 In extended event lines, now prints deletions in verbose format as well (e.g. "-AAT") 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2490 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 21:57:20 +00:00
asivache a18e31f5b8 If alignment context at the locus holds extended event, get rod metadata and (importantly) reference bases for the whole span of the event (if it is a deletion that is, insertions still have length 0 on the ref!) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2489 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 21:56:25 +00:00
asivache a41cb0701b Now can generate verbose String representation of deletions (e.g. "-AAT") if reference bases are provided as an argument to getEventStringWithCounts(). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2488 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 21:54:50 +00:00
asivache 89791d730e Compute and cache the length of the longest deletion observed at the site; ReadBackedExtendedEventPileup now has a getter to access that value. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2487 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 21:19:39 +00:00
asivache 9c41ac252f Disable testSingleBPFailure - getReferenceContext() now whould agree to accept length > 1 genome locs as its argument, so there's nothing to test... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2486 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 21:12:00 +00:00
asivache 8932e67325 Removed sanity check that required GenomeLoc argument to be strictly 1-base long. We need to relax this in order to be able to pass around a reference context containing full-length chunk of deleted reference bases 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2485 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 20:14:08 +00:00
hanna 497ae700c4 A rethink of the existing BAM block extraction code: rather than working in 
chunk space directly, stream data in block space, converting to chunk space
on demand.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2484 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 18:19:51 +00:00
rpoplin 80658fd99e AnalyzeCovariates gets the same performance improvements as the recalibrator. NHashMap class is removed completely. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2483 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 18:10:10 +00:00
rpoplin 9b2733a54a Misc clean up in the recalibrator related to the nested hash map implementation. CountCovariates no longer creates the full flattened set of keys and iterates over them. The output csv file is in sorted order by default now but there is a new option -unsorted which can be used to save a little bit of run time. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2482 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-30 16:58:04 +00:00
asivache 4aeb50c87d Added: integration test for extended pileup (with indels included) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2481 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 23:02:23 +00:00
asivache c928347c0c Extended event pileups are more verbose now: following a sequence of 'D','I', and '.' symbols, actual distinct events are listed along with their counts (example: +AAA:3,+AAC:1 for the total of 4 indel observations with 3 reads showing +AAA and one read showing +AAC) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2480 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 22:44:18 +00:00
asivache 8330058216 method added: getEventStringsWithCounts() 
Returns list of Pairs <String,Integer>, where each pair consists of a unique indel event observed at the site and the total number of observations of that event. String representation for insertions is verbose (e.g. +ACT), while deletions are represented as "5D" (since read backed pileup has no reference information, so we can not get actual sequence of deleted bases)

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2479 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 22:41:58 +00:00
asivache cf3e59eb4a back to archive 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2478 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 22:00:38 +00:00
asivache 295d16572e synch; will go back to archive in a sec 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2477 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 22:00:03 +00:00
asivache e286313b67 Fix for reads that have insertion as their last (mapped) cigar elements (i.e. not followed by M) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2476 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 21:13:16 +00:00
hanna 05deb8796b Simplify handling of reference sequence for unmapped reads. Improvement made based on a suggestion from Alec. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2475 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 21:06:20 +00:00
rpoplin 96c4929b3c Recalibrator now uses NestedHashMap instead of NHashMap. The keys are now nested hash maps instead of Lists of Comparables. These results in a big speed up (thanks Tim!). There is still a little bit of clean up to do, but everything works now. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2474 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 21:01:32 +00:00
depristo 7826e144a1 forgot to update md5s 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2473 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 20:31:29 +00:00
asivache bfd6bf9ec5 PileupWalker just got a new option: --showIndelPileups. When this option is used, two lines are printed for every genomic location that has indels associated with it: first line is a conventional base pileup, the second line is an "extended event" (indel) pileup. The refence base in that second line is always set to "E" (for Extended), and the pileup string contains I,D,. symbols for insertion, deletion, noevent, respectively. Only this simple short format for indel pileups is implemented so far. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2472 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 20:16:34 +00:00
asivache 9652692019 Modified to enable locus traversals firing additional calls to walker's map() with alignment context filled with extended events (indels). Walker should override generateExtendedEvents() to return true, and it should make sure that it catches those additional indel pileups and processes them differently, as needed. If there are indels associated with a specific reference base, TWO map() calls will be issued in locus traversal at that location: first one will have a context filled with a regular base pileup, the second call will provide the context filled with indel pileup (pileup elements will have insertion, deletion, or noevent type associated with them and will also carry information about the full length of the event and inserted bases). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2471 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 20:13:25 +00:00
asivache 06eb576924 Can now be constructed with either base pileup or extended event (indel) pileup; has query methods checking what kind of pileup is served by the context, and getter methods return the appropriate pileup. TODO: while it is impossible right now to create a context that contains both types of pileups simultaneously, this restriction is only weakly enforced through the lack of appropriate constructor. Either we keep it this way, or some getters may become ambiguous and have to be fixed! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2470 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 20:07:29 +00:00
asivache f445745c56 Pileup element and corresponding container class tweaked for representing pileups of extended events (indels) at a given locus. There's some redundancy with PileupElement and ReadBackedPileup (should we rename them to BasePileupElement and ReadBackedBasePileup?), so that abstracting a basic interface/abstract base from these classes can be considered in the future 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2469 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 20:03:39 +00:00
depristo 87e863b48d Removed used routines in duputils; duplicatequals to archive; docs for new duplicate traversal code; general code cleanup; bug fixes for combineduplicates; integration tests for combine duplicates walker 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2468 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 19:46:29 +00:00
depristo 29f94119d1 Fixes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2466 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 18:08:41 +00:00
ebanks 5fdf17fccb Removed the VCF "NS" annotation (which wasn't working for pooled calls anyways) since it's ambiguous and not useful. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2465 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 17:30:47 +00:00
hanna e32174fbc4 UnifiedGenotyper now works without -varout or -vf set. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2464 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 16:46:24 +00:00
hanna b125571a98 Intermediate check in: transfer responsibility of wrapping the GenotypeWriter around the output stream to the output 
management code.  Currently, will not work when neither -varout nor -vf are specified, but should work in all other
cases.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2463 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 16:11:11 +00:00
ebanks aeb34758e6 Adding a validation stringency to the VCF writers (which defaults to STRICT). If set to SILENT, it will not throw an exception for (reasonable) off-spec requests but will instead ignore such requests and silently move on. 
This change allows the pooled calculation model to work correctly with multiple threads.  Boys, the Genotyper is now officially parallelized.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2462 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 15:33:53 +00:00
rpoplin 29a3d9b47a AnalyzeCovariates also has to skip over NO_DINUC 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2461 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 14:36:05 +00:00
aaron a34c2442c0 moved hard-coded file paths to the oneKGLocation, validationDataLocation, and seqLocation variables setup in the BaseTest. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2460 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-29 07:40:48 +00:00
depristo 9d263b2565 Integration tests for count duplicates walker validated on a TCGA hybrid capture lane. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2459 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 23:57:25 +00:00
depristo fcc80e8632 Completely rewritten duplicate traversal, more free of bugs, with integration tests for count duplicates walker validated on a TCGA hybrid capture lane. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2458 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 23:56:49 +00:00
hanna 4617052b3c For Alec, and others at the Broad who want to run our unit/integration tests off of gsa1/gsa2: put a ceiling on the amount of memory that integration tests can use. Reduce the memory footprint of the fasta reader test. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2457 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 23:42:46 +00:00
alecw b5e5e27225 New versions of picard-private, sam and picard jars for TileCovariate and regeneration of NM tag 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2456 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 22:18:55 +00:00
hanna d4ee999ef9 Creates files supplemental to the reference sequence, consumed by BWA. 
ANN - Alternate form of the sequence dictionary.  Should be created from a sequence dictionary with full contig names.
AMB - A map of 'holes' in the genome, aka runs of non-ACGTacgt bases.  This skeletal implementation always reports no
      holes.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2455 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 21:40:44 +00:00
rpoplin fcc52fbcd1 Fixed the build. Added missing import line. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2454 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 21:26:00 +00:00
ebanks 893c9c85fa Added previous optimization to diploid (non-pool) model and shaved off 20% of runtime from it. Moved out some common functionality to joint estimate parent class. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2453 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 21:20:48 +00:00
rpoplin 92e3682991 Moved NHashMap to sting/utils 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2452 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 20:57:32 +00:00
rpoplin 562db45fa5 Sites that were marked NO_DINUC no longer get dinuc-corrected but are still recalibrated using the other available covariates. Solid cycle is now the same as Illumina cycle pending an analysis that looks at the effect of PrimerRoundCovariate. Solid color space methods cleaned up to reduce number of calls to read.getAttribute(). Polished NHashMap sort method in preparation for move to core/utils. Added additional plots in AnalyzeCovariates to look at reported quality as a function of the covariate. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2451 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 20:19:37 +00:00
asivache 2a704e83df Reads now have new traversal flag: generateExtendedEvents(). Support added to GenomeAnalysisEngine and Walker. This is a silent and transparent framework change that no existing code is going to see. The actual code that makes use of the new flag (which is false by default) will be committed separately... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2450 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 19:52:44 +00:00
ebanks c8d0e6e004 Optimization to pooled calculation model: stop calculating P(D|AF) if we are beyond the max likelihood such that subsequent likelihoods won't factor into the confidence score. Also, use new Pileup interface. 
Pooled calling now takes less than half the time it used to.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2449 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 18:39:55 +00:00
ebanks b1ac4b81d5 Optimization: look up diploid genotypes from a static matrix instead of creating them on the fly (with String.format); bases no longer need to be ordered appropriately 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2448 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 17:28:51 +00:00
andrewk 57516582c2 Converter from HapMap chip genotype data to VCF added; HapMapGenotypeROD adjusted to not convert from Hg18 to b36 formatting of contigs 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2447 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-28 01:36:08 +00:00
ebanks d2770f380c Writing calls to standard out now works again (it got broken when we introduced parallelization) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2446 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-27 04:36:45 +00:00
ebanks 12990c5e7a Added qual-by-depth annotation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2445 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-25 02:30:30 +00:00
ebanks 0571d9dcb9 Point MAX_QUAL_SCORE to SAMUtils.MAX_PHRED_SCORE. 
Also, array size for caches should be max score + 1.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2444 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-24 20:47:32 +00:00
ebanks 438d21842a The new recalibrator had been mimicking the behavior of the old one in that if there was no dinuc available (following a no-call base or at either end of a read), it didn't try to recalibrate. Now that Ryan has modularized the system, we no longer need to skip the base completely (we just need to skip the dinuc value)... which is good because the Picard people complained after realizing that cycle #1 never got recalibrated. 
The major effects of this commit are as follows:
1. We no longer skip any good bases (of course, this change alone breaks every single integration test).
2. The dinuc covariate returns a "no dinuc" value for the first base of a read (but not for the last base anymore, since there is a valid dinuc) or if the previous base is a bad base (e.g. 'N').

I've done a bunch of testing on real data and everything looks right; however, let's wait until the recalibrator guru gets back from vacation next week and can double-check everything before shipping this out in another early access release.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2443 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-24 20:41:29 +00:00
ebanks aaf674d9db Cleaned up this annotation. 
Still experimental.  As of now, it's not useful.  More analysis is needed to determine how to handle cases where UG is unsure whether a sample is het or hom.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2442 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-24 03:06:46 +00:00
ebanks 6df40876a3 Un-reverted Matt's previous changes and fixed integration tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2441 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-24 02:47:00 +00:00
hanna 2bd0b1bbf7 After further review, it's unclear that my patch in RecalDataManager was the right choice. Reverting. 
Also updating other IntervalCleanerIntegrationTest failures that were masked by my first patch.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2440 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-24 00:32:33 +00:00
hanna 98c268483e Fixed issues with the integration tests: 
1) sam-jdk apparently no longer supports custom tags with type int[] values.
2) BAM output for indel cleaner integration test changed in a way that's so subtle it can't be seen after converting the output to .sam.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2439 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-23 23:12:22 +00:00
aaron b134e0052f added changes to the code to allow different types of interval merging, 
1: all overlapping and abutting intervals merged (ALL), 
2: just overlapping, not abutting intervals (OVERLAPPING_ONLY), 
3: no merging (NONE).  This option is not currently allowed, it will throw an exception.  Once we're more certain that unmerged lists are going to work in all cases in the GATK, we'll enable that.  

The command line option is --interval_merging or -im


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2437 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-23 21:59:14 +00:00
alecw 159778416c In TableRecalibrationWalker, update UQ tag if it was present in the original SAMRecord. This required a new sam.jar, which caused some other files to need to be changed. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2435 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-23 21:42:36 +00:00
hanna 87ff2b15d4 First step in introducing a patch to Picard: create our ideal interface into the BAM file for sharding. 
This commit can iterate over the BAM file, pulling out information about the blocks in the file without actually loading
or decompressing the reads.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2434 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-23 21:35:08 +00:00
ebanks 770093a40e Oops - forgot to check this one in. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2433 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-23 19:53:28 +00:00
ebanks dc96879861 2 separate changes which both affect lots of UG integration md5s, so I'm committing them together: 
1. allele balance annotation is now weighted by genotype quality (so we don't get misled by borderline het calls)

2. Updates to the Unified Genotyper for parallelization:
   a. verbose writing now works again; arg was moved from UAC to UG
   b. UG checks for command that don't work with parallelization
   c. some cleanup



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2432 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-23 19:03:56 +00:00
ebanks 872a9d1c7b I'm making this change now (as opposed to waiting until Monday) to honor Tim's request. 
The cycle covariate is now first/second of pair aware.  I'm taking it on faith from both Chris Hartl (waiting on slides from him) and Tim that this is the right thing to do.  We'll have Ryan confirm it all next week.
The only change is that if a read is the second of a pair, we multiple the cycle by -1 (a simple way of separating its index from that of its mate).
Of course, this broke all integration tests.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2431 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-23 16:26:43 +00:00
hanna e29e8e52b9 Multithreading support for the unified genotyper. Tests on a 10Mbase region on pilot 1 show a 6.8x improvement 
when running 8 ways parallel.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2430 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-23 00:48:06 +00:00
kiran 164a94a3d0 Modified the walker documentation so that the stray punctuation wouldn't cause the GATK to stop parsing the help documenation early (aka I changed one word). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2429 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-22 20:50:01 +00:00
kiran 4ee6a478e3 Creates a table of reference allele percentage and alternate allele percentage at Hapmap-chip sites in a BAM file. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2428 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-22 20:43:44 +00:00
ebanks 03bf75e335 Now implements TreeReducible 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2427 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-22 17:52:51 +00:00
hanna 0d890e1bf0 Rework Eric's output management code given that the behavior of the UG changes drastically 
depending on its output format.  Current implementation is probably a bit overkill-ish and
we can whittle this down to what's absolutely necessary.
Writing VCFs to the 'out' protected printstream may not work at this moment.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2425 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-22 00:33:43 +00:00
ebanks f448a263e9 The cleaner now cleans duplicate reads (instead of ignoring them) - although it doesn't include them for scoring ref or alt consenses 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2424 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-21 21:01:55 +00:00
ebanks cf303810d3 VCF reader now creates the correct type of header line for each header type 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2423 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-21 20:39:06 +00:00
ebanks e06dfe44c4 Check for null platform (even when the read group isn't null) and assign it the default platform if it is 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2420 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-21 07:01:41 +00:00
ebanks 87e5a41964 Fixed a bug that accounted for a bunch of my remaining mis-cleaned indels. 
Also, slightly optimized the cleaner by using readBases (instead of readString) and caching cigar element lengths.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2419 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-21 05:46:16 +00:00
hanna b780ffb34a Add a getFormat() method to get the output format from the writer. The need for 
this call suggests that I may be thinking about the typing of the GenotypeWriter object the wrong way.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2418 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-21 01:46:26 +00:00
hanna 11cbfcec9c Get rid of backlink from ArgumentDefinitions to ArgumentSources. This will help in the future with multiple 
source -> single definition mapping sets.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2417 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-21 00:39:36 +00:00
hanna 9e53c06328 First revision of command-line argument support for GenotypeWriter. Also, fixed the damn build. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2416 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-20 19:19:23 +00:00
ebanks 4ff61097cf Trivial change: < -> <= 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2415 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-20 03:35:27 +00:00
ebanks 566b556b50 Give user ability to turn off max allowed interval size 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2414 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-20 03:20:22 +00:00
ebanks a5f75cbfd4 The previous commit broke the build, so this is a temporary patch to get it to compile. ConcordanceTruthTable should use enums (esp. now that all of the concordance variables need to be public), but VariantEval will need to be rewritten soon anyways so I'll just push it off until then. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2413 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-20 02:34:41 +00:00
depristo ee8bcdc61d PooledConcordance calculations have been reformatted and bugs fixed. Now properly handles monomorphic sites. Also works with -G option now, correctly 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2412 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-19 23:22:36 +00:00
depristo 9bf2d12c64 Misc. improvements to the LMW code. Support for emitting all sites, regardless of genotype. Min and max quality scores. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2411 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-19 23:20:57 +00:00
aaron 7e0f69dab5 Changed the GLF record to store it's contig name and position in each record instead of in the Reader. Integration tests all stay the same. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2410 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 22:54:56 +00:00
hanna 80b3eb85fa Fixed curiously epic failure in read-backed pileup: size() mismatched the numReads-numDeletions at that locus in the case where includeReadsWithDeletionsAtLoci == false, causing failures including bad output from pileup walker. Also fixed up ValidatingPileup to run with the new ReadBackedPileup instead of just compiling successfully. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2409 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 22:52:44 +00:00
rpoplin fdf542c214 The CycleCovariate for 454 data is now the TACG flow cycle. That is, each flow grabs all the T's, A's, C's, and G's in order in a single cycle. This is changed from incrementing the cycle whenever there is a discontinuous nucleotide along the direction of the read. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2408 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 22:39:51 +00:00
aaron c39675d2c1 VCFTool.java got left off of the last commit 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2407 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 21:33:53 +00:00
ebanks 4ea31fd949 Pushed header initialization out of the GenotypeWriter constructors and into a writeHeader method, in preparation for parallelization. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2406 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 19:16:41 +00:00
ebanks eeddf0d08e Adding sample utils for convenience methods to pull out samples from e.g. SAMFileHeader or Genotype objects 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2405 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 18:51:21 +00:00
chartl 79b997f43d Minor fix to getValue (thanks Ryan!) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2404 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 15:45:51 +00:00
aaron 9971a8da9a adding a check to the RodVCF to ensure that records are in-order in the underlying VCF file. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2403 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 15:24:45 +00:00
chartl 38563bbc2d The values used to be integers (-1 for unpaired, 0 for unmapped, 1 for first, 2 for second); but i switched to strings before commit so it was more clear. Forgot to update the OTHER getValue method. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2402 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 15:05:14 +00:00
chartl 7b5e332ff3 Added - PairedQualityScoreCountsWalker: counts quality scores (e.g. as a histogram) on first reads of a pair and second reads of a pair. Turns out there's a consistent difference in quality scores; even after recalibrating without the pair ordering as a covariate (there's a bit of averaging -- but not as much as I initially thought). 
Added - A paired read order covariate to use with recalibration. Currently experimental: for instance, what's a proper pair versus just a pair? Nobody should use this one...



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2401 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 15:01:01 +00:00
ebanks 4f59bfd513 Updates to the various GenotypeWriters to make them do simple things like write records (plus allow GLFReader to close). 
Adding first pass of stub and storage classes for the GenotypeWriters so that UG can be parallelizable.  Not hooked up yet, so UG is unchanged.
The mergeInto() code in the storage class is ugly, but it's all Tribble's fault.  We can clean it up later if this whole thing works.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2400 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 07:20:23 +00:00
ebanks 1cde4161b7 Fixed another test 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2399 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 05:05:03 +00:00
ebanks 94f5edb68a 1. Fixed VCFGenotypeRecord bug (it needs to emit fields in the order specified by the GenotypeFormatString) 
2. isNoCall() added to Genotype interface so that we can distinguish between ref and no calls (all we had before was isVariant())
3. Added Hardy-Weinberg annotation; still experimental - not working yet so don't use it.
4. Move 'output type' argument out of the UnifiedArgumentCollection and into the UnifiedGenotyper, in preparation for parallelization.
5. Improved some of the UG integration tests.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2398 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 04:14:14 +00:00
jmaguire 98839193b7 compatibility with VCF lib's switch to GenomeLoc. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2397 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 00:52:48 +00:00
jmaguire 8787dd4c5e Various and sundry additions to VCF tools. Some useful to the general public, some one-offs. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2396 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-18 00:35:45 +00:00
rpoplin 6fbf77be95 Updating the two solid_recal_mode options to also change the previous base since solid aligner prefers single color mismatch alignments over true SNP alignments. COUNT_AS_MISMATCH mode has been removed completely. The default mode is now SET_Q_ZERO. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2394 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-17 20:07:26 +00:00
hanna 07f1859290 Added integration test for running the recalibrator with no index. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2393 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-17 19:10:53 +00:00
ebanks c75ec67f84 When called as a standalone, VariantAnnotator now emits samples in sorted (as opposed to random) order in VCFs. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2392 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-17 19:01:08 +00:00
rpoplin aa86f3710d Updating HomopolymerCovariate to only count the consecutive previous bases. I left in the code but commented out for if somebody wants to worry about carry forward homopolymer problems. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2391 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-17 18:25:09 +00:00
hanna b863fffdf6 Fix 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2390 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-17 17:55:00 +00:00
hanna 9143822822 Fix half-hearted attempt to try to move classes from package to package. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2389 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-17 17:41:42 +00:00
asivache e6cc7dab26 fixing md5 sum; new version of IndelIntervalWalker does the right thing... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2388 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-17 01:04:13 +00:00
asivache acb4d477da sync... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2387 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-17 01:03:01 +00:00
asivache ba86508854 remove debug print command 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2386 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-17 00:00:01 +00:00
asivache d72d332239 1) changed to search specifically for D and I cigar elements (and to process properly/ignore H,S,P elements) and print out only intervals that encompass actual indels. There's still one interval per read (at most) generated, which is the smallest intervals that covers ALL indels (D or I elements) present in the read; 2) if an interval (thus the original read itself and indels in it) sticks beyond the end of the chromosome, the read is ignored and this interval is NOT printed into the output; instead, a warning is printed to STDOUT (should we send it to logger.warn() instead? 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2385 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 23:29:07 +00:00
hanna 5b78354efd Fixed NPE in index check with RefWalkers. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2384 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 22:37:45 +00:00
hanna e6127cd6c5 Temporary hack for Tim Fennell: introduce a sharding strategy that stuffs all data into a single 
shard for cases when the index file isn't available.  Works for the case in question, but is not
guaranteed to work in general.  Will be replaced once the new sharding system comes online.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2383 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 21:55:42 +00:00
ebanks bef1c50b3b Some cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2382 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 21:41:06 +00:00
ebanks bb92e31118 Optimizations: 
1. push the ReadBackedPileup filtering up into the ReadFilters for read-based filters
2. stop querying the cigar for its length (just do it once)


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2381 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 21:39:58 +00:00
andrewk 36875fca89 Update documentation in the new help system 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2380 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 21:33:12 +00:00
hanna ee47eb4367 Make filters used available to the walker via getToolkit(). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2379 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 21:26:04 +00:00
ebanks b626fc0684 Joint Estimate is now the default calculation model. 
Reworked all of the integration tests so that they're now more comprehensive, cover more of what we wan to test, and don't take forever to run.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2376 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 19:41:02 +00:00
ebanks e051311e8c Added convenience methods in RodVCF to pull out all of the VCF data from the VCFRecord (e.g. getID(), getSamples(), getInfoValues()) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2374 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 17:58:41 +00:00
ebanks bb312814a2 UG is now officially in the business of making good SNP calls (as opposed to being hyper-aggressive in its calls and expecting the end-user to filter). 
Bad/suspicious bases/reads (high mismatch rate, low MQ, low BQ, bad mates) are now filtered out by default (and not used for the annotations either), although this can all be turned off.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2373 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-16 17:28:09 +00:00
aaron af440943a4 Fixing a bug that Steven uncovered; we had an abigous contract for peek() in PushbackIterator, and SeekableRODIterator wasn't checking to see if it's PushbackIterator hasNext() was true before calling peek(). 
Changed peek() to element() to be consistant with the Java standards of the Queue and Stack classes (element() throws an exception if a record isn't available).  

Also updated some of the ROD iterator next() methods to throw NoSuchElementException if next() is called when a record isn't available.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2372 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 23:04:40 +00:00
andrewk 1035abc85f Add minimum base quality thresholding to depth of coverage via getBaseAndMappingFilteredPileup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2371 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 22:58:30 +00:00
sjia 2deae95df9 Updated documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2370 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 21:31:47 +00:00
hanna 555976d575 One more walker with formatting to fix. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2369 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 21:23:13 +00:00
hanna cf46472419 Fix up Sherman's new docs in compliance with javadoc specs. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2368 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 21:20:38 +00:00
sjia df79ed8db1 Updated documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2367 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 20:53:41 +00:00
sjia a80a5f1036 Updated documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2366 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 20:52:08 +00:00
sjia 18f61d2586 Updated documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2365 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 20:45:19 +00:00
sjia 5974c42468 Updated documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2364 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 20:41:35 +00:00
sjia d8cfd707bc Updated documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2363 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 20:35:18 +00:00
sjia 4322beeb35 Updated documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2362 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 20:33:38 +00:00
sjia 4148991d81 Now also encodes amino acids, includes documentation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2361 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 20:26:56 +00:00
ebanks 9b0bdbbf29 Fix for homopolymer bug: ref was lowercase, alt allele was uppercase, so alt != ref. Yuck. 
This is a temporary fix - pushed more elegant solution over to Matt.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2360 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 19:02:23 +00:00
depristo a810586418 Check-in without javadoc = smackdown 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2359 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 15:32:39 +00:00
ebanks b234019cf5 Readded locus printing suppression to DoC walker 
(and removed unused import from UG)


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2358 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 14:50:56 +00:00
depristo 0d2a761460 Bugfix for minBaseQuality to ignore deletion reads. LocusMismatch walker now allows us to skip every nths eligable site 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2357 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 14:38:39 +00:00
ebanks bf7bab754e Made getPileupWithoutMappingQualityZeroReads() and getPileupWithoutDeletions() more efficient, per Mark's cue. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2356 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 04:35:21 +00:00
ebanks 874552ff75 Pull the genotype (and genotype quality) calculation out of the VCF code and into the Genotyper. 
[Also, enable Mark's new UG arguments]



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2355 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 04:29:28 +00:00
depristo 2cbc85cc7a min mapping quality and min base quality arguments for UG 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2354 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 03:57:27 +00:00
depristo faa638532a Correct location 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2353 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 02:42:21 +00:00
depristo 1da97ebb85 Walker for calculating non-independent base errors, v1. Will be moved to somewhere not in core 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2352 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-15 02:40:15 +00:00
chartl 1389ac6bdf Hurrr -- this uses power as part of its output. Changes to the power calculation broke the md5s RIGHT AFTER I HAD FIXED THEM arghflrg. 
Will fix again.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2351 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-14 22:42:50 +00:00
chartl b42fc905e8 Added - new tests (Hapmap was re-added) 
Modified - Hapmap now takes a -q command to filter out variants by quality
Modified - MathUtils - cumBinomialProbLog now uses BigDecimal to handle some numerical imprecisions
Modified - PowerBelowFrequency - returns 0.0 if called with a negative number (can't be done from inside the walker itself, but since it's called elsewhere one can't be too careful)



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2350 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-14 21:57:20 +00:00
rpoplin 8e44bfd2ef CycleCovariate and PrimerRoundCovariate now correctly handle negative strand 454 and SOLID reads. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2349 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-14 21:52:30 +00:00
ebanks c7b23d6ca5 Now that VCFGenotypeRecords implement SampleBacked (as they should), a quick fix was needed to get the GenotypeConcordance working when no direct samples were provided in a samples file. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2348 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-14 04:27:16 +00:00
asivache bd7b07f3f1 added PrimitivePair.Long and a few shortcut utility methods to PrimitivePairs: add(pair), subtract(pair), assignFrom(pair) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2347 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-14 00:15:44 +00:00
ebanks 97618663ef Refactored and generalized the VCF header info code. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2346 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-13 21:02:45 +00:00
depristo 05b8782d5f Documentation updates. Moved CountX.java walkers to QC 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2345 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-13 18:40:22 +00:00
depristo 92307361a4 In preparation for move 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2344 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-13 18:28:06 +00:00
ebanks 45199136f0 Completed my documentation responsibilities - based on Mark's reasonable assignment and not the one Matt made up while on Meth. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2342 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-13 04:13:30 +00:00
ebanks bd2a46ab4c I want to move over to hpprojects tonight, so I'm checking in various changes all in one go: 
1. Initial code for annotating calls with the base mismatch rate within a reference window (still needs analysis).
2. Move error checking code from rodVCF to VCFRecord.
3. More improvements to SNP Genotype callset concordance.
4. Fixed some comments in Variation/Genotype



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2341 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-13 02:52:18 +00:00
kiran 2748eb60e1 Added short documentation for each class so that it appears in the walker command-line documentation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2340 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-12 21:41:07 +00:00
rpoplin 78e94b5a84 TableRecalibration now puts the full list of walker arguments into the PG tag of the bam file it creates. Thanks Matt and Eric. Also, the default nback for the HomopolymerCovariate is 8, down from 10. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2339 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-12 17:29:41 +00:00
rpoplin 014013630f Added hieracrchy to the covariate classes: Required, Standard, and Experimental. Required covariates (rg and reported quality) are added for the user whether or not they are specified in the -cov list. There is now a -standard option in CountCovariates which will add in all of the standard covariates so the user doesn't have to type them all out or even know which ones are the standard. There is logger output to say which covariates are being used of course. The list of covariates used is also added to the PG tag in the bam file produced by TableRecalibration. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2338 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-12 16:34:05 +00:00
hanna 6955b5bf53 Cleanup of the doc system, and introduce Kiran's concept of a detailed summary 
below the specific command-line arguments for the walker.  Also introduced
@help.summary to override summary descriptions if required.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2337 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-12 04:04:37 +00:00
hanna cdfe204d19 Incorporated feedback from Kiran. Use the Javadoc first sentence extraction capability to just show the first sentence from each line of Javadoc. @help.description can still be used to produce exceptionally verbose descriptions. 
Also increased the line width as much as I could tolerate (100 characters -> 120 characters).


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2336 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 21:59:55 +00:00
rpoplin 4fa4e95fbc Updated AnalyzeCovariates to extend org.broadinstitute.sting.utils.cmdLine.CommandLineProgram and use the standard argument parsing. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2335 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 21:57:18 +00:00
kiran 38d9f7b903 Renamed ReferenceContext's getSimpleBase() method to getBaseIndex() 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2334 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 20:14:39 +00:00
aaron 09811b9f34 Now that we always output the VCF header, make sure that we correctly handle the situation where there are no records in the file. Added unit tests as well. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2333 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 19:51:05 +00:00
hanna 0da2105e3c Moving DuplicateQualsWalker to oneoffprojects. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2332 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 19:22:32 +00:00
rpoplin 60c3eb4b60 Added help.description to the recalibration walkers. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2331 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 19:02:29 +00:00
ebanks 2ea7632b76 The SNP genotype concordance module is now more comprehensive. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2330 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 18:34:33 +00:00
hanna 590aeee7d2 Documentation for more basic walkers. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2329 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 18:15:40 +00:00
hanna d1815f3559 More documentation for walkers that I'm familiar with in the collection of core walkers. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2328 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 18:02:33 +00:00
hanna 956c36a2c8 Help for the qc package. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2327 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 17:32:47 +00:00
hanna 450ea233a5 Docs for the basic walkers: CountLoci, CountReads. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2326 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 17:17:34 +00:00
hanna f97ac939fa Punch up the help documentation for CombineDuplicates. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2325 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 17:09:35 +00:00
aaron 86dc98bfb5 update the documentation for CombineDuplicates for the new help system. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2324 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 17:01:42 +00:00
aaron 420725441a documentation updates for the new help system. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2323 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 16:15:44 +00:00
hanna 23d96b1d43 Help system content for the alignment module. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2322 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 16:01:25 +00:00
ebanks 2de7e1a178 Move VariantAnnotator over to use a StratifiedAlignmentContext split by sample. 
The only major difference is that we are now able to get accurate allele balance ratios.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2321 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-11 05:28:28 +00:00
depristo 8f7554d44f A few improvements to pooled concordance calcluations. Now will show you FN with the -V option. BasicGenotype now prints out a reasonable representaiton wiwth toString 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2320 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 23:09:10 +00:00
aaron f64a4c66ac some tweaks for the GATK paper genotyper to better work with shared memory parallelization, added documentation changes for Matt's new help system. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2319 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 22:33:51 +00:00
andrewk a7cd172628 Added 8x coverage field and minimum base quality command line option in order to be able to compare to U. Wash. exome metrics. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2318 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 22:14:44 +00:00
ebanks 2869270c11 Fixed deletion depth calculation plus mis-spelling in ReadBackedPileup method. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2315 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 21:11:42 +00:00
ebanks 31b1d60d28 Generalized the StratifiedAlignmentContext code so that it's easy to add new ways to stratify. Then added an MQ0-free stratification so we don't need to be carrying around 2 different alignment contexts (full vs. mq0-free) anymore. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2314 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 19:50:06 +00:00
hanna 0c396f04a2 Fix obvious cut/paste error in output stream management code. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2313 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 19:23:13 +00:00
ebanks 11ac7885b0 Pull out StratifiedAlignmentContext code so other walkers can use it. 
This is basically a wrapper class around AlignmentContext which allows you to stratify a context by e.g. reads on forward vs. reverse strands.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2312 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 19:21:16 +00:00
hanna adb2fdbee7 Before, we were only checking that the reference was present if @Requires required that a reference was present. Now we always check that a reference is present, so that we get an intelligent error message. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2311 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 19:15:48 +00:00
hanna 5eac510b2f Refactor the code I gave Eric yesterday to output command line arguments. 
Convert it from a completely wonky solution to a slightly less wonky solution
that will work in more cases.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2310 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 18:57:54 +00:00
hanna 74b8055b6a Only show extra walker help if the user didn't specify a walker or specified 
an invalid walker.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2309 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 16:43:06 +00:00
ebanks e6f541fdca Forgot to update integration test last night 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2308 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 12:57:10 +00:00
ebanks 0fae798b3a 1. Discoverable base calculations don't care about Genotypes (use Variation's PError regardless of whether the call is ref or var - it's the correct value even for ref calls). 
2. Call a base genotypable if any of the Genotypes is above the threshold (you can't assume there's a single Genotype associated with the Variation).



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2306 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 04:26:06 +00:00
ebanks a45adadf1f VCFGenotypeRecord already defines all the methods needed to be SampleBacked, so let's annotate it as being SampleBacked. This way, when used as a generic Genotype, sample data can be retrieved. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2305 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 04:16:21 +00:00
ebanks 78d5ac9bc2 Don't check het count when there are multiple Genotypes per Variation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2304 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 04:07:47 +00:00
ebanks ee691b8899 Added a whole bunch of unit tests for VCF reading. 
We could still use more, but this is a good start.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2303 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-10 03:31:23 +00:00
ebanks f7c44ad019 - Read in arguments for the header based on reflection 
- Hook up Variation and Genotype in SSG



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2300 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 21:35:33 +00:00
hanna 408f6f3dee Refactoring of prior commit: better handling of unnamed package within the help system. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2297 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 20:12:35 +00:00
hanna 1d2151adcf Better handling of nulls output by 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2296 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 19:34:56 +00:00
ebanks 40c2d7a4bc Fix all-bases-mode and genotype-mode in the UG and add integration tests for them. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2295 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 17:41:30 +00:00
ebanks 4e54b91ce4 UG now outputs the FORMAT header fields when there's genotype data. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2294 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 16:31:07 +00:00
rpoplin 12c49ea485 Added DuplicateReadFilter to filter out reads that are marked as duplicates. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2293 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 15:42:53 +00:00
ebanks fb900b12e1 VariantFiltration now details the filters it has used in the header of the VCF it produces. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2292 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 15:36:15 +00:00
ebanks 7a76e13459 Better explanation in the exception being thrown. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2291 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 03:59:36 +00:00
ebanks 8d67d9ade3 -Minor fix in UG for all-bases mode 
-Make minConfidenceScore in VariantEval a double so non-integer values can be used (requested by Steve H).


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2290 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 03:49:10 +00:00
ebanks 8a1c876104 Weird. I thought I had updated these md5s... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2289 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 03:31:41 +00:00
ebanks 717eb1de96 - Depth annotation now includes MQ0 reads 
- Removed MQ0 annotation
- Updated RMS MQ annotation to use new pileup
- UG now outputs all of its arguments as key/value pairs in the header (for VCF)
- Cleaned up VCFGenotypeWriterAdapter interface a bit



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2288 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-09 02:53:00 +00:00
ebanks e8822a3fb4 Stage 3 of Variation refactoring: 
We are now VCF3.3 compliant.
(Only a few more stages left.  Sigh.)



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2287 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-08 21:43:28 +00:00
hanna 9e2f831206 A bit of cleanup in preparation for Picard patch. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2286 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-08 16:09:04 +00:00
hanna d3b78338da Get rid of characters in the docs that aren't universally compatible with 
character sets used throughout the group.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2285 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-07 21:41:07 +00:00
hanna d75d3a361a Clean up some of the walker help output based on additional experience and 
feedback received.  Also, add a flag to build.xml to disable generation of
docs on demand (use ant -Ddisable.doc=true to disable docs).


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2284 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-07 21:33:11 +00:00
hanna a3e88c0b1c Cleanup results of bad merge. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2281 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-07 19:30:49 +00:00
hanna 10be5a5de9 Move some files around to reflect our growing help infrastructure. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2280 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-07 19:23:12 +00:00
rpoplin 1d5b9883db Added --solid_recal_mode argument to experiment with different ways of dealing with solid reference bias. Currently the default option is DO_NOTHING which means use the same behavior as the old recalibrator. Eventually the new methods in RecalDataManager will be moved over to a SolidUtils class. Added transition and transversion methods to BaseUtils that work like simpleComplement, used with the color space in my solid methods. Also, initial check-in of HomopolymerCovariate. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2276 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-07 14:26:27 +00:00
depristo 8f461d3c40 Critical bug fix for VariantEval dbSNP calculations. Moved the system over to the new improved ROD iterators, resulting in dbSNP rates jumping 5% or so, due to masking of true SNPs by preceding indels. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2274 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-07 03:36:38 +00:00
hanna 8089aa3c50 Adding support to override the help text. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2273 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-07 00:16:26 +00:00
ebanks c0528cd88e Updated the CallsetConcordance classes to use new VCF Variation code... and uncovered a whole bunch of VCF bugs in the process. I'm not convinced that I got them all, so I'll unit test like crazy when the refactoring is done. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2272 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-06 11:43:40 +00:00
ebanks b6f8e33f4c Stage 2 of Variation refactoring: 
VCFRecord now implements Variation, VCFGenotypeRecord now implements Genotype.

Because of this change, RodVCF is now just a wrapper around the VCFRecord and does nothing else.  Also, one can call toVariation on the VCFGenotypeRecord and it returns the VCFRecord.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2271 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-06 06:48:03 +00:00
hanna 3b440e0dbc Add a taglet to allow users to override the display name in command-line help. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2270 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-06 04:12:10 +00:00
ebanks 08f2214f14 Stage 1 of massive Variation/Genotype refactoring. 
This stage consists only of the code originating in the Genotyper and flowing through to the genotype writers.  I haven't finished refactoring the writers and haven't even touched the readers at all.

The major changes here are that
1. Variations which are BackedByGenotypes are now correctly associated with those Genotypes
2. Genotypes which have an associated Variation can actually be associated with it (and then return it when toVariation() is called).

The only integration tests which need to be updated are MSG-related (because the refactoring now made it easy for me to prevent MSG from emitting tri-allelic sites).



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2269 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-06 03:12:41 +00:00
hanna b04de77952 First pass at a reorganized walker info display. Groups walkers by package 
and displays walker data extracted from the JavaDoc.  Needs a bit of help,
both in content and flexibility of package naming.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2267 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-04 23:24:29 +00:00
depristo 07b88621c5 Improved RankSum calculations and RankSum annotation. Much more meaningful 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2266 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-04 22:16:40 +00:00
hanna 4c147329a9 Turn javadoc comments for packages and classes into key/value pairs in a properties file. Embed the properties file 
in GenomeAnalysisTK.jar.  Still no support for actually displaying the archived javadoc.  Also change the approach 
to providing package javadocs: retired the deprecated package.html file in favor of Java1.5-style package-info.java.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2263 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-04 20:08:41 +00:00
ebanks 1e8dcc30da -dbSNP rod should not implement VariantBackedByGenotype since dbsnp records have no genotype data 
-added code to cache the allele list so it didn't need to get recomputed each time it was requested.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2260 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-04 14:56:48 +00:00
ebanks 58937bf9ba You can now use the -exp flag to tell the Genotyper to include experimental annotations when it calls out to VariantAnnotator. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2256 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-04 04:45:05 +00:00
ebanks b05e73a914 Finished implementation of the Wilcoxon Rank Sum Test thanks to Tim Fennell (calculating the normal approximation) and Nick Patterson (dithering to break tie bands). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2255 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-04 04:04:39 +00:00
ebanks 861221d046 - Moved various header line printing into a single method 
- Fixed output for coverage above min depth



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2254 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-04 02:15:43 +00:00
ebanks aef4be5610 Moved CoarseCoverageWalker to core and packaged both coverage walkers in coverage/ 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2249 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 17:53:36 +00:00
ebanks df4e001a07 Renamed to more accurately describe its function. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2248 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 17:34:49 +00:00
ebanks c2017cc91b PrintCoverageWalker functionality moved to DepthOfCoverageWalker. Added integration tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2247 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 17:23:59 +00:00
ebanks 01cf5cc741 1. Merged CoverageHistogram into DepthOfCoverageWalker 
2. Fixed bug in histogram calculation for small intervals
3. Better output in DoCWalker
4. Comments added to code



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2245 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 17:01:53 +00:00
ebanks 44b9f60735 PercentOfBasesCovered functionality moved to DepthOfCoverageWalker. Added integration tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2244 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 16:11:09 +00:00
ebanks 126d1eca35 Move to core (qc/) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2243 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 15:45:58 +00:00
ebanks 9da5cc25ad More archiving (with permission from Andrey) plus a move to core. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2242 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 15:40:27 +00:00
aaron b3bdcd0e60 make sure we close the error log stream in CommandLineProgram if it's opened; unit tests and clean-up for BasicVariation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2241 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 06:59:27 +00:00
ebanks a88202c3f6 Refactored DoCWalker to output in a more helpful and usable style. It now outputs in tabular format with 2 different sections: per locus and then per interval. 
I am now at a point where I can merge the functionality from other coverage walkers into this one.
Thanks to Andrew for input.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2239 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 05:28:21 +00:00
ebanks d7e4cd4c82 Moving some useful and stable walkers to core: 
- ClipReads
- PrintRODs (generalized to print all RODs that are Variations)
- FixBAMSortOrderTag (added documentation to walker so that people know what it does and why)



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2238 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-03 03:00:45 +00:00
rpoplin 46f3d3e39b Added comments to AnalyzeCovariates and R scripts. R script prevents residuals from going off the edge of the plot. Added skeleton code to the recalibration walkers showing how we plan to handle SOLID reference inserting behavior. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2233 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 23:15:52 +00:00
aaron 451a20ed55 commenting out some broken integration tests, to be uncommented if needed. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2232 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 23:13:24 +00:00
depristo c776f9fb90 Simple utilities for dealing with Complete Genomics data 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2230 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 22:51:41 +00:00
aaron 9d598f1c82 some integration test clean-up 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2229 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 21:11:02 +00:00
ebanks a09fee2b5e Moved some more walkers to oneoffprojects and killed an old indel-related walker that isn't being used. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2228 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 20:28:07 +00:00
depristo dec0a781c2 Un-reinventing the wheel. --sleep argument removed. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2227 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 20:19:28 +00:00
ebanks a3343c75db Move and rename a hybrid-selection-specific coverage calculation to hybridselection/ 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2225 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 20:11:22 +00:00
ebanks 2c83f2f2bc Move MSG - plus now obsolete classes which it depends on -- to oneoffprojects (with permission from Jared). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2224 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 20:04:22 +00:00
chartl 6a9e7bea05 Removing experimental annotations 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2220 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 19:03:55 +00:00
jmaguire c180a76b05 Added option "append": if set, and the specified discovery output already exists, don't re-call anything that's already present in that file. Append new calls to it. 
Great for resuming long jobs that died partway through.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2219 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 18:56:19 +00:00
ebanks 0a2304eff8 - Rename minConfidenceScore in VariantEval to minPhredConfidenceScore 
- Moved validation walkers to new qc dir
- Killed unused test



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2218 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 17:59:19 +00:00
ebanks a5dfc9107d - Cleaned up annotation code some more 
- Use QualityUtils when phred-scaling now



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2217 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 17:45:29 +00:00
ebanks 7055a3ea2d - All annotations are now required to return their VCF INFO keys and descriptions 
- Renamed keys to fit with the standard naming
- FisherStrand is no longer standard
- Integration tests no longer test experimental annotations since they're not stable



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2216 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 17:24:06 +00:00
rpoplin 67179e2412 Initial checkin of AnalyzeCovariates.java which replaces analyzeRecalQuals_1KG.py and is updated to use the new Covariates system. It creates similar plots of residual error for each covariate that was used in the calculation. There is also an option to filter out base qualities below a given threshold. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2215 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 16:47:35 +00:00
ebanks 2838629724 -VCF writer now checks whether the allele frequency has been set before trying to write it out. 
-Renamed methods to be more consistent.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2214 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 16:25:32 +00:00
depristo 6231637615 fixes for VariantAnnotations and second bases. Misc. removal of failing (and unstable) integration tests that require rereview 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2213 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 15:41:35 +00:00
aaron d487428468 remove incorrect parentheses 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2211 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 06:46:32 +00:00
chartl 886c44303a -Removing BTTJ integration test -- this broke a few revisions ago (2169) and it is unclear whether the resulting change was a correction to something that had previously been incorrect, or a true build-breaker. I'm currently investigating which case this is, but since Bamboo is back up I'm removing this _temporarily_ so that other testing can occur, and will make whatever changes to the test necessary to reflect the truth, then replace the test itself. Additional (and related) pileup tests are upcoming as well. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2210 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 05:37:15 +00:00
ebanks b979bd2ced - Optimized implementation of -byReadGroup in DoCWalker 
- Added implementation of -bySample in DoCWalker
- Removed CoverageBySample and added a watered down version to the examples directory



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2209 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 03:39:24 +00:00
ebanks 7c73496e72 Moved DoC walker over to new pileup system so it no longer moves like it's stuck in molasses. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2208 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 02:46:39 +00:00
ebanks ba8a8febc6 Thanks to Steve Hershman for finding this bug: 
getNegLog10PError() does not equal the confidence score (you need to multiply by 10 as confidence is traditionally phred scaled).  Probably we should change the method to be getNeg10Log10PError().  Anyone have strong feelings on this?



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2207 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-02 01:59:03 +00:00
ebanks 3303808a8f Yet more walkers moved to oneoffprojects. 
Made hybridselection subdir in playground.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2205 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 21:29:12 +00:00
ebanks 05923f7fba Started transition to oneoffprojects. 
Moved/killed a few other walkers (with permission).



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2204 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 21:19:02 +00:00
ebanks c36069355e Trivial change to verbose 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2203 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 20:48:10 +00:00
jmaguire 74f6526e09 VCFHomogenizer: A class that extends InputStream and dynamically re-writes pilot1 VCF's to be on-spec. 
VCFTool: A command-line tool with various useful VCF functions (validate, grep, concordance).




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2202 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 17:55:42 +00:00
jmaguire adf8f1f8b3 Add an InputStream constructor, which is immensely useful for various reasons. 
Also a minor performance optimization.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2201 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 17:25:00 +00:00
ebanks e581cceab6 Got Kris's permission to delete these walkers. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2200 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 16:57:28 +00:00
rpoplin 3180fffd43 Eliminated unnecessary boxing of longs in RecalDatum. Changes to RecalDatum in preparation for new AnalyzeCovariates script. Updated TableRecalibrationWalker to make use of these changes. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2199 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 16:49:05 +00:00
chartl 21a9a717e4 Some minor changes and test: 
- DepthOfCoverage is now by reference (so locus-by-locus output correctly reports zero-coverage bases)
  - VariantsToVCF now lets you bind variants with any string except intervals and dbsnp (not just NA######)
  - A PileupWalker integration test on a particularly nasty FHS site
  - Two second-base annotation related integration tests on that same site
       + outputs were all hand-validated in matlab; within a certain tolerance for the annotations




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2197 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 15:15:54 +00:00
ebanks 084337087e Removing deprecated code and walkers for which I had the green light from repository. 
Moved piecemealannotator and secondarybases to archive.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2195 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 05:58:20 +00:00
ebanks 2c16c18a04 Move Andrey's old indel code (plus MSG accuracy test, which depends on it) to archive. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2194 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 05:29:00 +00:00
ebanks 7c6c490652 An unfinished implementation of the Wilcoxon rank sum test and a variant annotation that uses it. I need to merge and update this code with Tim's implementation somehow - but that won't happen until later this week, so I'm committing this before I accidentally blow it away. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2193 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 04:56:17 +00:00
ebanks 00f15ea909 Improved performance of deletion-free pileup and added mapping-quality-zero-free pileup convenience method. 
Finished converting genotyper and annotator code to new ReadBackedPileup system.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2192 348d0f76-0448-11de-a6fe-93d51630548a
 2009-12-01 04:50:47 +00:00
rpoplin 6bb864da2a More misc cleanup. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2191 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 22:29:07 +00:00
rpoplin b89b9adb2c misc code cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2190 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 21:16:00 +00:00
depristo e793e62fc9 minor code cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2189 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 20:57:20 +00:00
rpoplin 4969cb1957 CountCovariates uses new optimized ReadBackedPileup. It also smarter about re-doing calculations for the dnsnp variation rate sanity check. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2188 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 20:35:40 +00:00
ebanks add2fa7ab4 more use of new ReadBackedPileup optimizations 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2187 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 20:04:01 +00:00
rpoplin 817e2cb8c5 Recalibrator makes use of the new GATKSAMRecord wrapper and now no longer has to hash the SAMRecord. Covariate's getValue method signature has changed to take the SAMRecord instead of the ReadHashDatum. ReadHashDatum removed completely. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2185 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 19:59:17 +00:00
ebanks e9a8156cfb Use new optimized ReadBackedPileup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2184 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 18:17:18 +00:00
rpoplin d8146ab23d Changed the format of the recalibration csv file slightly so that it is easier to load the file into something like R and look at the values of the covariates. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2183 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 17:55:23 +00:00
ebanks a184d28ce9 Completing the optimization started by Matt: we now wrap SAMRecords and SAMReadGroupRecords with our own versions which cache oft-used variables (e.g. platform, readString, strand flag). All walkers automagically get this speedup since the wrapping occurs in the engine. 
I note that all integration/unit tests pass except for BaseTransitionTableCalculatorJava, which is already broken.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2182 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 17:39:29 +00:00
depristo af22ca1b47 Bug fixes for VariantEval. dbCoverage now reports dbSNP rate, not some wierd eval_snps_in_db as before. We now separate non-indel and non-snp db sites in dbcoverage. Some dbSNP records don't fit into these two categories. Also fixed a consistency issue where novel / known sites where being determined solely by whether dbSNP had a record there, rather than the stricter dbcoverage screen for isSNP(). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2180 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-30 01:39:01 +00:00
chartl 27651d8dc2 Oops. numReads is now called size 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2175 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-29 06:59:17 +00:00
chartl 21744e024b Quick walker that determines % of bases covered at (user - defined depth)x . I've been maintaining it in my directories alone, but now that i've accidentally deleted it twice, into playground it goes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2174 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-29 06:51:19 +00:00
hanna 3300ca906a An iterator for Eric to use when injecting his new wrapping reads -- a stopgap solution for getting additional caching 
functionality into a SAMRecord.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2173 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-27 22:25:52 +00:00
rpoplin 26db15be5c Added SingleReadGroupFilter to only use reads from a specific read group, filtering out all others. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2172 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-27 20:33:59 +00:00
rpoplin 91f5672a32 misc cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2171 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-27 19:56:20 +00:00
rpoplin d1298dda13 Encapsulated the sections of code that were shared by the two Recalibration walkers. This includes both the shared command line arguments and the section of code in the map methods which pull out data from the SAMRecord and stuff it into the ReadHashDatum. Command line arguments are now passed to the Covariates using a new initialize method that all Covariates must implement. Updated the dbsnp sanity check warning message to be less cryptic. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2170 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-27 19:54:10 +00:00
depristo 75b61a3663 Updated, optimized REadBackedPileup. Updated test that was breaking the build -- it created a pileup from reads without bases... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2169 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-25 23:30:39 +00:00
alecw ac1b289d55 Add tile to ReadHashDatum, and implement TileCovariate 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2166 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-25 21:41:42 +00:00
depristo db40e28e54 ReadBackedPileup in all its glory. Documented, aligned with the output of LocusIteratorByState, and caching common outputs for performance 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2165 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-25 20:54:44 +00:00
rpoplin b44363d20a Removed silly casts from Integer to int. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2164 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-25 19:59:21 +00:00
ebanks d0f673f0c0 Use Math.abs so we don't get (inconsistent) -0's 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2160 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-25 19:08:34 +00:00
rpoplin 6ff8526592 Added arguments to the recalibration walkers so the user can specify the default read group id and platform to use when a read has no read group. There are also options to force every read group and every platform to be the specified values. Added integration tests that use a bam file with no read groups. Added comments to all the covariates to explain what each of the methods in the Covariate interface are used for. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2157 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-25 15:41:12 +00:00
aaron cfbd9332b0 small cleanups for the GATK paper genotyper; switched to the managed output system. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2156 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-25 08:04:13 +00:00
ebanks e1e5b35b19 Don't have the spanning deletions argument be a hard cutoff, but instead be a percentage of the reads in the pileup. Default is now 5% of reads. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2155 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-25 04:54:44 +00:00
depristo 03342c1fdd Restructuring and interface change to ReadBackedPileup. We now lower support the Pileup interface, the BasicPileup static methods, and the ReadBackedPileup class. Now everything is a ReadBackedPileup and all methods to manipulate pileups are off of it. Also provides the recommended iterable() interface of pileup elements so you can use the syntax for (PileupElement p : pileup) and access directly from p.getBase() and p.getQual() and p.getSecondBase(). Only a few straggler walkers use the old style interface -- but those walkers will be retired soon. Documentation coming in the AM. Please everyone use the new syntax, it's safer, and will be more efficient as soon as the LocusIteratorByState directly emits the ReadBackedPileup for the Alignment context, as opposed to the current interface. In the process of the change over, discovered several bugs in the second-best base code due to things getting out of sync, but these changes were resolved manually. All other integrationtests passed without modification. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2154 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-25 03:51:41 +00:00
ebanks 2cb3e53b0b Verbose mode shouldn't be printing out 'NaN's and 'Infinity's 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2153 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 22:01:00 +00:00
rpoplin c9ff5f209c Added a CountCovariates integration test that uses a vcf file as the list of variant sites to skip over instead of the usual dbSNP rod. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2152 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 21:51:38 +00:00
ebanks 3484f652e7 1. Variation is now passed to VariantAnnotator along with the List of Genotypes so non-genotype calls has access to all relevant info. 
2. Killed OnOffGenoype
3. SpanningDeletions is now SpanningDeletionFraction



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2151 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 21:47:20 +00:00
ebanks e05cb346f3 GenotypeLocusData now extends Variation. 
Also, Variations should be INSERTIONs or DELETIONs (and not just INDELs).
Technically, VCF records can be indels now.
More changes coming


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2150 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 21:07:55 +00:00
rpoplin 8b30279edc style update 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2149 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 20:56:31 +00:00
rpoplin dffa46b380 BAM files created by TableRecalibration now have the version number and list of covariates used appended to their header with a new 'PG' tag. Eventually the entire list of command line args will be put in there as well. Big thanks to Matt and Aaron. The integration test uses the --no_pg_tag so that the md5 doesn't change every time the version number changes. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2148 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 20:53:57 +00:00
aaron 8fbc0c8473 fix for bug GSA-234: fasta index files couldn't handle anything but letters, numbers, or spaces in the contig name 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2147 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 19:19:47 +00:00
andrewk 3fca23cd16 Added a stub treeReduce function for debugging multi-threaded execution. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2146 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 18:51:19 +00:00
rpoplin 277e6d6b32 Further optimizations of TableRecalibration. This completes my goal of having the only math done in the map function be addition, subtraction and rounding the quality score to an integer. Everything else has been moved to the initialize method and only done once. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2145 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 18:21:57 +00:00
andrewk e4546f802c Accumulates coverage across hybrid selection bait intervals to assess effect of bait adjacency. Requires input bait intervals that have an overhang beyond the actual bait interval to capture coverage data at these points. Outputs R parseable file that has all data in lists and then does some basic plotting. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2144 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 18:12:34 +00:00
andrewk e5106c9924 Hybrid selection performance statistics now include counts of the number of adjacent baits (0,1,2) using OverlapDetector and optionally include assayed bait quantities input via interval lists. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2143 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 18:07:23 +00:00
ebanks 87c1860398 I'm not sure I believe it, but JProfiler claims that calling FourBaseProbs.isVerbose() was taking 5% of my runtime... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2142 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 17:00:32 +00:00
ebanks b3f561710f Optimizations: 
1. Only do calculations in UG for alternate allele with highest sum of quality scores (note that this also constitutes a bug fix for a precision problem we were having).
2. Avoid using Strings in DiploidGenotype when we can (it was taking 1.5% of my compute according to JProfiler)

UG now runs in half the time for JOINT_ESTIMATE model.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2141 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 16:27:39 +00:00
rpoplin a59e5b5e1a Added dbSNP sanity check to CountCovariates. If the mismatch rate is too low at dbSNP sites it warns the user that the dbSNP file is suspicious. Added option in CountCovariates and TableRecalibration to ignore read group id's and collapse them together. Also, If the read group is null the walkers no long crash with NullPointerException but instead warn the user the read group and platform are defaulting to some values. Default window size in MinimumNQSCovariate is 5 (two bases in either direction) based on rereading of Chris's analysis. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2140 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 16:16:44 +00:00
alecw e5e6d515c3 Fix misunderstanding of GenomeLoc interval 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2138 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 15:12:49 +00:00
ebanks cb6d6f2686 Very minor performance improvements 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2137 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 05:21:07 +00:00
ebanks c90bea39a1 read.getReadString().charAt(offset) --> read.getReadBases()[offset] 
[As a courtesy I fixed all instances once I was updating GenotypeLikelihoods]


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2136 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 04:25:19 +00:00
ebanks ec321abd7b Added ability to filter on the QUAL field 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2135 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 04:08:22 +00:00
ebanks 36d493e645 All standard annotations now inherit from StandardVariantAnnotation. Users can specify whether they want all annotations, just the standard annotations, or specific annotations. When calling in from another walker, the default is just the standard ones. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2134 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 03:55:12 +00:00
ebanks ee5093d2c6 -Added VariantFiltration integration tests 
-Added integration test for GLFs



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2133 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 02:36:27 +00:00
ebanks be6a549e7b Added the capability to allow expressions in an integration test command (i.e. -filter 'foo') by escaping them in the command. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2132 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-24 02:34:48 +00:00
hanna 903342745d Basic integration test for the aligner. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2131 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 23:08:05 +00:00
hanna 4837fe919c Convenience changes. If no -BWT option is specified, pull the BWT location from the reference. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2130 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 22:46:05 +00:00
rpoplin 9e4eadc37c CountCovariates v2.0.2: Added a --process_nth_locus <int> argument to only use every Nth covered locus when creating the recalibration table. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2129 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 22:07:38 +00:00
chartl 6a52ca3db6 Update to the UG integration test. Why I had to rm -rf my entire sting directory to get it to correctly fail we may never know. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2128 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 21:23:00 +00:00
ebanks ed4cf3de57 Check that we're biallelic before calling isSNP() 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2127 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 20:20:48 +00:00
rpoplin 5744a1d968 The covariates don't care about SAMRecord's anymore - Cleaning up the import statements. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2126 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 20:10:12 +00:00
chartl 23983b2fd8 New annotation: ResidualQuality 
Computes a metric for how much error is left that isn't explained by ref or snp bases. This is the sum of Q scores, weighted by the proportion of non-ref non-snp bases to non-snp bases. Reported in Log space.

Update to the integration test so bamboo doesn't look as though someone murdered it with a spork




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2124 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 20:04:01 +00:00
ebanks 70059a0fc9 Refactored joint estimation model to allow subclasses to overload PofD calculation over all frequencies. Pooled model now takes only 20% of time that it used to. 
Added integration test for pooled model and updated other joint estimation tests to be more comprehensive now that they are faster.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2123 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 20:03:38 +00:00
rpoplin 7f947f6b60 Updated recalibrator integration tests to use all three platforms as well as a bam with multi-platform reads intermingled. CountCovariates v2.0.1: Once again uses a read filter to filter out zero mapping quality reads. Added --sorted_output option to output the table recalibration file in sorted order 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2122 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 19:51:36 +00:00
ebanks c299ca5f49 It would help if I copied the MD5s from the right integration test... 
I hate Mondays.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2121 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 17:21:36 +00:00
ebanks ff4797acbb Forgot to check in integration test update 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2120 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 17:13:51 +00:00
ebanks 14bf6ce83c 1. Newest version of the joint estimation model. Faster than previous version and now qscores can get to be > 39.8 for hets. 
2. More sanity checks in annotations


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2119 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 17:05:50 +00:00
hanna ee2abd30c4 Count the best alignments and emit them to a file. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2118 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 16:37:59 +00:00
rpoplin 1d46de6d34 The old recalibrator is replaced with the refactored recalibrator. Added a version message to the logger output. These walkers start at version 2.0.0 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2117 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 14:58:33 +00:00
ebanks dfe7d69471 1. VCF: don't print slod if it's never set 
2. UG: don't print slod if lods are infinite (todo: figure out a good guess instead)
3. UG: if probF=0 for 2 alt alleles are both 0 (because of precision), use log values to discriminate



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2116 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 02:55:43 +00:00
ebanks 753cb100a3 Add checks for weird situations 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2115 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 02:14:25 +00:00
ebanks 04d6ac940c Always print out VCF header - not just when there is genotype data present. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2114 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 01:44:10 +00:00
ebanks bf935a6ab1 1. Fixed bug in PrimaryBaseSecondaryBaseSymmetry code (not checking for null before trying to access object's methods) which was causing Integration Tests to fail. 
2. Retired allele frequency range from UG, which wasn't very useful.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2113 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-23 01:31:48 +00:00
rpoplin b24240664f Reduced the number of calls to new ArrayList() in TableRecalibration. This results in a speed up of perhaps up to 6 percent (timed trials are hard). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2112 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-22 17:24:31 +00:00
hanna c9c4999354 BWA: odds and ends. Get rid of some spurious debug code that was accidentally 
checked in.  Add a better way to write out unmapped reads (thanks Kiran!)  Add 
a pre-built version of the shared library to the repository for early adoption.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2111 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-22 15:26:07 +00:00
depristo 9c206abb97 removing unnecessary printing 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2110 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-22 12:41:48 +00:00
chartl 59416ae06a This is an annotation adapted from one that Mark Daly suggested some time ago. Right now it calculates: 
- For all reference bases, the proportion of their second best bases that support the SNP

- the proportion of non-reference bases that support the SNP

and reports the difference between the two. Initially I was taking depth into account as well, but that did not appear to work as nicely as I'd like (even at 20,000x depth, if 95% of the non-reference bases are C, and 98% of the reference second-best-bases are C, then we would want to be suspicious of it; but perhaps slightly less so than if the depth were only 20...)

Anyway it's now available. I'm not sure how useful it will be, but I spawned the FHS annotation jobs again, so we'll see.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2109 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-22 00:47:49 +00:00
rpoplin 98f921fe24 The refactored CountCovariates now hashes the read object into a HashMap which holds all the properties the covariates pull out of the read over and over again such as read group string, bases string and its complement string, quality scores, etc. This results in a big speed up. CountCovariatesRefactored is now just slightly slower than CountCovariates (perhaps 1.07x according to my latest time trial). Thanks to Alec for suggesting IdentityHashMap. CycleCovariate now warns the user that is is defaulting to the Solexa definition of cycle when the platform string pulled out of the read is unrecognized instead of halting with an Exception. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2108 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-21 20:38:17 +00:00
depristo 27122f7f97 Performance improvements for pooled caller. Now possible to actually run on real data in a finite amount of time. Minor changes to GL interface (making strandIndex public) to support cached calculations in pooled caller. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2107 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-21 15:07:40 +00:00
ebanks 797bb83209 New VariantFiltration. 
Wiki docs are updated.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2105 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-20 19:50:26 +00:00
hanna a78bc60c0f Minor tweak to improve ease-of-use of iterator system. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2104 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-20 18:24:19 +00:00
hanna 4fbb6d05d0 Refactoring. Push the revisions to the common aligner interface down into 
the aligner base classes.  Hack the managed implementation to support the
new interface.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2103 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-20 17:08:09 +00:00
ebanks d84444200b The Unified Genotyper now sorts the sample names in the vcf that it outputs. 
[There was no reason to enforce that every VCF being output from the GATK should have the samples sorted, since someone might want them ordered non-alphabetically]


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2102 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-20 16:13:18 +00:00
hanna 38a030f2ba Finishing off data transfer conduits for single alignment generator. 
Misc bug fixes elsewhere.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2101 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-20 15:21:59 +00:00
ebanks 2a5349d886 VariantAnnotator now adds dbsnp id if a dbsnp rod is supplied and it's not already set for a record 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2100 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-20 03:26:09 +00:00
ebanks b434c1c240 Check for null entries before adding 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2099 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-20 03:12:20 +00:00
depristo 82fd824c4d Continuing improvements to unified genotyper 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2098 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-20 01:39:29 +00:00
aaron 33dcfc858d updates to the paper genotyper based on Mark's comments. There's still more work to do, including more testing. 
Also a 250% improvement in the getBases() and getQuals() of BasicPileup, which was nearly all of the runtime for the genotyper (using primitives instead of objects when possible).

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2097 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 23:06:49 +00:00
rpoplin 22aaf8c5e0 Added the old recalibrator integration tests to the refactored recalibrator sitting in playground. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2096 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 22:43:28 +00:00
hanna a95302fe98 Single alignment generator, another checkpoint. Does generate single alignments, but some of the data still 
needs to plumbed through and it may leak memory.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2095 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 21:20:03 +00:00
hanna a972b2769f Checkpoint. Add first phase of single alignment interface. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2094 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 19:03:43 +00:00
chartl 306f4624c6 oops forgot to update the md5s 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2093 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 18:22:29 +00:00
aaron 6ba1f3321d Fixed the sample mix-up bug Kiran discovered, and added a unit test in the VCF reader class (Thanks for the good example files Kiran). Also renamed the toStringRepresentation function to toStringEncoding, and added a matching method in VCFGenotypeRecord. 
Updated the integration tests that were failing to due to different ordering of genotyping entries in VCF, I'll check in the VCF diff tool I wrote when I get a cycle or two.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2092 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 18:17:47 +00:00
chartl b4babb82eb adding an extra bit of data to come out of CTT (number of chips with actual data) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2091 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 17:46:10 +00:00
alecw 7623b39927 Add rodPicardDbSNP 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2088 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 17:27:46 +00:00
alecw b2b4ff7eca Cache SAMReadGroup rather than get it twice 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2087 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 17:27:18 +00:00
chartl b3872386c9 Test to ensure that ConcordanceTruthTable and those walkers which rely on it for tabulating pooled truth information from truth information of the individuals within the pool is doing that calculation correctly. Tests single het, single hom (with/without reference), together, together without reference, and a mix of everything. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2082 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 15:26:32 +00:00
depristo eeb3a3fffb comments for Aaron 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2081 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 12:56:04 +00:00
aaron 7997455f38 first go of the genotyper for the GATK paper. More testing and review tomorrow to call it done. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2080 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 07:55:24 +00:00
ebanks 7b957d3e2e Make the whining from Khalid's office stop already 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2079 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-19 03:04:48 +00:00
hanna 85bc9d3e91 (Hopefully) temporary hack: load contig information by contig name rather than contig id to avoid 
off-by-one errors.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2078 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 23:33:27 +00:00
rpoplin 0fbd81766b CountCovariates now uses any rod of type VariationRod with the name dbsnp as the source of known variant sites to skip over. It also grabs the platform string out of the read group when deciding which algorithm to use to calculate machine cycle. In this way it can now handle multi-platform bams. I added a new covariate: PositionCovariate. This is simply the offset regardless of which platform the read came from. This will be useful for comparing between the two covariates. Finally, this message serves as a warning that I will be killing the old recalibrator tomorrow after I've updated and verified new integration tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2077 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 23:03:47 +00:00
ebanks f667bed7fc -Don't annotate allele balance or on-off genotype if there's no genotype data 
-If qscore is infinity (because of precision) make a best guess instead


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2076 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 22:01:32 +00:00
chartl 90212c643b more effective & efficient test for SecondBaseSkew 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2075 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 20:53:32 +00:00
ebanks 087e01a439 minor changes for --noSLOD 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2074 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 18:48:01 +00:00
ebanks a70cf2b763 A bunch of changes needed to make outputting pooled calls possible 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2073 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 18:42:57 +00:00
ebanks 0a35c8e0ba 1. The joint estimation model now constrains genotypes to be AA,AB,or BB only (i.e. to use a single alternate allele). Note that this doesn't work for the old models (point estimate or SSG) because calculations aren't divided by alternate allele. 
2. Allele frequency spectrum is not emitted for single samples (since it doesn't make sense).
3. If in pooled mode, throw an exception of pool size isn't set appropriately.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2072 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 17:43:15 +00:00
chartl 405c6bf2c1 VariantEval genotype concordance for pools! Integration test coming soon 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2071 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 17:24:54 +00:00
depristo 6fe1c337ff Pileup cleanup; pooled caller v1 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2070 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 17:03:48 +00:00
rpoplin f0a234ab29 TableRecalibration is now much smarter about hashing calculations, taking advantage of the sequential recalibration formulation. Instead of hashing RecalDatums it hashes the empirical quality score itself. This cuts the runtime by 20 percent. TableRecalibration also now skips over reads with zero mapping quality (outputs them to the new bam but doesn't touch their base quality scores). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2069 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 16:47:44 +00:00
chartl be31d7f4cc Added - a walker that outputs relevant information about false negatives given a bunch of hapmap individuals and corresponding integration tests for it. 
This will output for hapmap variant sites:

chromosome  position  ref allele   variant allele   number of variant alleles of the individuals   depth of coverage   power to detect singletons at lod 3   number of variant bases seen   whether or not variant was called




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2068 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 15:47:52 +00:00
chartl b68d6e06b7 Rollback of the previous "fix" and implementation of the real fix. 
We totally *do* want to annotate the call if called by another walker. Totally boneheaded misenterpretation of what the code was doing -- Eric, please forgive me for being an idiot.

Instead, change the StingException to what it really should be -- an IllegalStateException, which is not coincidentally already handled by the calling function. 



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2067 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 06:09:24 +00:00
chartl 95f1be94c0 Fix for the broken build: 
do **not** attempt to annotate if UnifiedGenotyper is called from another walker! Why this didn't break the build earlier I have no idea.

Ultimately, there should be a better way of interfacing UG with another walker -- what if some other walker wants the annotations from UG? But since we're calling map directly -- and the annotations don't get returned directly from map -- this needs to be handled differently, while the map function should ultimately return the LOD score or quality under the GCM alone.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2066 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 05:56:31 +00:00
ebanks 9fb50e9bd9 Further refactoring so that pooled calling will work. 
Okay, Mark, you should be all set.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2065 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 00:18:13 +00:00
chartl 539f6f15e5 Added -- 
Second base skew annotations and integration tests. Nothing need be given except -A SecondBaseSkew; the statistic it annotates calls with is a chi-square statistic given by the deviation of the observed proportion of reference second-best-bases from the expected 1/3. Future additions may be to ask that the deviation be instead from a given transition table.

A big note for all users: All IllegalStateExceptions from the variation ROD (e.g. the RodGeliText) are dealt with SILENTLY. I understand this isn't optimal, but I'd rather simply not annotate a non-bi-allelic site than fail completely (there are quite a few such sites even on the regions over which the integration test has been written).




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2064 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-18 00:11:13 +00:00
depristo 42a0bbaf46 Minor reformating for pooled calling 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2063 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-17 22:06:11 +00:00
rpoplin ec1a870905 Working with byte arrays is faster than working with Strings so the Covariates now take in byte arrays. None of the Covariates themselves used the reference base so I removed it. DinucCovariate now returns a Dinuc object which implements Comparable instead of returning a String because it was too slow. CountCovariates now uses a read filter to filter out unmapped reads and allows the user to specify -cov all which will use all of the available covariates, of which there are 7 now. If no covariates are specified it defaults to ReadGroup and QualityScore, the two required covariates. Initial code in place to leave SOLID bases alone if they have bad color space quality. TableRecalibration uses @Requires to tell the GATK to not give the reference bases since they weren't being used for anything. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2062 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-17 21:50:52 +00:00
ebanks 4d9c826766 Integration tests actually run on real data now. 
<tries to hide sheepish grin>


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2061 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-17 21:04:14 +00:00
ebanks 5e126875ea temporarily disable (tests are broken) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2060 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-17 20:45:52 +00:00
ebanks a048f5cdf1 -Refactored JointEstimation code so that pooled calling will work 
-Use phred-scale for fisher strand test
-Use only 2N allele frequency estimation points



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2059 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-17 20:21:15 +00:00
chartl 43bd4c8e8f Ignoring deletions in the primary pileup by default was causing the primary pileup to become shorter than the secondary pileup when building up the secondary base pileup string. This fix makes sure to include the primary Ds within the pileup so that not only are the pileups guaranteed to be the same size, the same offsets will truly correspond with the same read. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2058 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-17 17:20:13 +00:00
aaron aece7fa4c7 a convenience method to join a map into a single string, which I need for some VCF work. Added some documentation to the join method as well. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2057 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-17 16:50:01 +00:00
asivache 21729d9311 Do not print debug message when debug mode is not requested!! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2056 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-16 20:28:41 +00:00
rpoplin 967215066d The old CountCovariates now warns the user if they didn't supply a dbSNP rod file. Thanks Kiran for the use case. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2055 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-16 19:16:46 +00:00
rpoplin eb07c7f7f8 CountCovariates now warns the user if they didn't supply a dbSNP rod file. Thanks Kiran for the use case. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2054 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-16 18:44:54 +00:00
ebanks 4558375575 Stage 1 of the VariantFiltration refactoring is now complete. There now exists a parallel tool called VariantAnnotator which simply takes variant calls and annotates them with the same type of data that we used to use for filtering (e.g. DoC, allele balance). The output is a VCF with the INFO field appropriately annotated. 
VariantAnnotator can be called as a standalone walker or by another walker, as it is by the UnifiedGenotyper.  UG now no longer computes any of this meta data - it relegates the task completely to the annotator (assuming the output format accepts it).

This is a fairly all-encompassing check in.  It involves changes to all of the UG code, bug fixes to much of the VCF code as things popped up, and other changes throughout.  All integration tests pass and I've tediously confirmed that the annotation values are correct, but this framework could use some more rigorous testing.

Stage 2 of the process will happen later this week.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2053 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-16 02:41:20 +00:00
hanna ce5034dc5d Finally reinstate the iterator-style interface. Get rid of some scaffolding code. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2052 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-16 02:34:19 +00:00
kiran 103763fc84 An accessor for the VCF header 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2051 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-15 09:28:25 +00:00
kiran 97ed945797 Example code for a bug in the VCF implementation. See JIRA entry at http://jira.broadinstitute.org:8008/browse/GSA-225 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2050 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-15 09:27:12 +00:00
rpoplin 88fd762436 The -rf argument is now being used for read filter and is colliding with my walkers. Changed mine to -recalFile 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2048 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-14 19:37:46 +00:00
rpoplin b05119987c Clarified some of the comments in the individual covariates now that things have been moved around to speed up the code. In general most error checking and adjustments to the data are done per read instead of per base. This means that functionality was moved out of the covariate modules and into CovariateCounterWalker and TableRecalibrationWalker. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2047 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-14 18:44:05 +00:00
rpoplin 672472789e Added some documentation to the helper classes. Fixed an error case in TableRecalibrationWalker. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2046 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-14 18:13:43 +00:00
hanna 15c14add4d Repackage the aligner for better partitioning. The C aligner, for example, is now 
partitioned from the Java aligner, and both are partitioned from the more general-
purpose BWT reader.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2045 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 22:55:27 +00:00
rpoplin d1b525b428 Default window size for NQS covariate is 3 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2040 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 19:24:27 +00:00
rpoplin 394c839974 Implemented NQS covariate. Extended Cycle covariate to handle 454 and SOLID reads. Added a Primer Round covariate for SOLID reads. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2039 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 19:22:21 +00:00
ebanks bf451873ff 1. Bug fix: check that AF=0 doesn't contain more probability than 1-fraction 
2. Fix for Kiran: allow UG to call SNPs at deletion sites; we'll add an annotation to the VariantAnotator for deletions at the locus (next week).
3. Added integration tests for joint estimation model



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2038 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 18:02:18 +00:00
asivache 1be36ca959 Bug fix: when cleanedReadIterator is initialized, it gets immediately set to the contig of the first cleaned read; when the first uncleaned read coming in is on the lower contig, this would trigger 'readNextContig' with that lower contig as an argument. As the result, the whole cleaned reads file would be read through the end and no cleaned reads would be ever seen by the code afterwards. Now we do not call readNextContig if the (uncleaned) read's contig is lower than the current contig already loaded into cleanedReadIterator. the 'readNextContig' method now also throws an exception if requested contig is less than the currently loaded one 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2037 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 15:41:26 +00:00
rpoplin b1376e4216 structure refactored throughout for performance improvements 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2036 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 15:41:09 +00:00
depristo cff31f2d06 comments for eric 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2035 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 14:19:31 +00:00
aaron 234bb71747 changed the toVariation() method to take a reference base, instead of using the reference base loaded from the underlying data source (if it was reference aware). Also changed some isVariant() methods which weren't using the passed in ref base. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2034 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 06:54:38 +00:00
ebanks 902cf84448 Bug fix: if the most likely allele frequency is 0, don't make a variant call (even if the Qscore for AF=1/n > threshold) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2033 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 04:10:32 +00:00
ebanks 555fb975de 1. Print out allele frequency range (from joint estimation model only). 
2. Don't print verbose output from SLOD calculation (it's just a repeat of previous output).



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2032 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 03:59:13 +00:00
mmelgar 72825c4848 A walker that generates a table of secondary base counts in a bam file. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2031 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 02:11:23 +00:00
hanna 7c386fa428 Another case of reordering of read groups blowing up checksums. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2030 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-13 00:07:35 +00:00
hanna 8145ed4672 Take 2, updating picard with bug fix for bam files containing no reads. 
Just stomped on the existing md5s because that's what Eric told me to do.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2029 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-12 22:52:08 +00:00
ebanks 61b5fb82ce 2 major changes: 
1. Add dbsnp RS ID to VCF output from genotyper; to do this I needed to fix the dbsnp rod which did not correctly return this value.

2. Remove AlleleBalanceBacked and instead generalize the arbitrary info fields backing VCFs (and potentially others) in preparation for refactoring VariantFiltration next week.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2028 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-12 22:51:49 +00:00
mmelgar 3742a05760 Now can read E2 or SQ tag. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2027 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-12 15:18:21 +00:00
aaron c3c001e02e cleanup of the traversal output code 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2026 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-12 06:18:10 +00:00
ebanks 0922400ca9 Don't try to calculate ratios when DoC is zero (which happens when calls are made by an LD-aware genotyper) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2025 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-12 02:51:44 +00:00
ebanks 697d7e02c8 Remove the lazy initialize functionality. When no calls are made by the genotyper, we still want a vcf file to be output with valid header. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2024 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-12 02:14:50 +00:00
hanna 2ea85fb62b Fix some problematic command-line argument naming and descriptions. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2023 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-12 02:12:26 +00:00
hanna 0c2a957ae0 Better configuration support. Now supports everything that people have expressed interest in except edit distance. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2021 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-11 20:54:49 +00:00
depristo 6c9f86bb4d Removed unnecessary output and added debugging print() routine 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2020 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-11 18:37:36 +00:00
ebanks 578dcc54a4 Don't create a record if ref=N 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2018 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-11 04:32:17 +00:00
hanna 8406325247 New Picard is breaking one of the integration tests. 
Revert until we find out whether the cause is legit.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2017 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-11 03:59:32 +00:00
hanna 499e7d1d75 Push forward some more delicate merging routines. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2016 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-11 03:07:34 +00:00
hanna bae4d3f7ea Updated Picard with fix for Doug Voet. Thanks Alec. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2015 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-11 02:01:08 +00:00
hanna 2e4782f202 Command-line arguments for SamReadFilters. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2014 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 23:36:17 +00:00
rpoplin a13cbe1df0 The refactored recalibrator now passes the integration tests as well as my own validation tests. I'm ready to have other people start jamming on the files. I'll make an updated wiki page soon. The refactored recalibrator is currently a bit slower than the old one but there were a lot of great, easy ideas today for how to improve it. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2013 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 22:20:06 +00:00
hanna 2cf9670d1e Allow users to directly specify filters from the command-line, applicable to 
any walker.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2012 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 18:40:16 +00:00
ebanks 6a37090529 Output changes for VCF and UG: 
1. Don't cap q-scores at 99
2. Scale SLOD to allow more resolution in the output
3. UG outputs weighted allele balance (AB) and on-off genotype (OO) info fields for het genotype calls (works for joint estimation model and SSG)


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2011 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 16:31:31 +00:00
rpoplin 1e7ddd2d9f Added a validateOldRecalibrator option to CovariateCounterWalker which reorders the output to match the old recalibrator exactly. This facilitates direct comparison of output. Changed the -cov argument slightly to require the user to specify both ReadGroupCovariate and QualityScoreCovariate to make it more clear to the user which covariates are being used. Some speed up improvements throughout. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2010 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 15:55:56 +00:00
depristo 7e30fe230a oops, missing file 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2009 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 13:25:18 +00:00
depristo d316cbad4c VariantFilteration now accepts a VCF rod in addition to an input geli. It will then annotate this VCF file with filtering information in the INFO field too. --OnlyAnnotate will not write in filtering output 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2008 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 13:24:58 +00:00
aaron f9819d5f13 a little clean-up 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2007 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 06:18:34 +00:00
aaron 2ed423ed56 print the current location in read walkers (in addition to the number of reads processed), along with some refactoring to support the change. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2006 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 05:57:01 +00:00
ebanks c9c3cf477a Based on feedback from Kiran, we know uniquify sample names as sample.rodName (instead of sample.1, sample.2, ...) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2005 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-10 02:41:37 +00:00
ebanks 2fa2ae43ec Enough people have found this useful, so... 
Moving Callset Concordance tool to core and adding integration test.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2003 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 20:59:18 +00:00
ebanks 3793519bd4 -Added convenience method to VCF record to tell if it's a no call and have rodVCF use it before querying for info fields 
-Don't restrict info fields to 2-letter keys
[about to move these to core]


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2002 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 20:52:51 +00:00
rpoplin 740a5484c4 Added some documentation to the code, mostly especially to CovariateCounterWalker but various comments added throughout. Also changed the HashMap data structure to accept an estimated initial capacity. This had a very modest improvement to the speed. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2001 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 20:13:56 +00:00
ebanks 74751a8ed3 -Some minor fixes to get accurate vcf record merging done 
-Improvement to snp genotype concordance test

And with that, it looks like I get revision #2000.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2000 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 06:40:55 +00:00
ebanks ab705565cf Completely refactored the Callset Concordance code. Now, it takes in VCF rods and emits a single VCF file which has merged calls from all inputs and is annotated (in the INFO fields) with the appropriate concordance test(s). 
Still needs a bit of polish...


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1999 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 05:03:13 +00:00
ebanks bc6f24e88f Added VCFUtils which contains some useful VCF-related functions (e.g. ability to merge VCF records). 
Also, various minor improvements.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1998 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 04:53:32 +00:00
ebanks cff645e98b convenience method to deal with genotypes that are unsorted (e.g. CA vs. AC) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1997 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 04:45:49 +00:00
kiran 7fde6c0bf4 One more output tweak. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1996 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 04:42:55 +00:00
kiran 00a7113d7a Tweaks to formatting of output table. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1995 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 04:33:36 +00:00
ebanks 7ce0df76f8 Added accessors to the rod data sources so that walkers can access the name/file/type triplets for input rods. This is necessary if e.g. you want to create a vcf writer based on all of the samples being input. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1994 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 04:25:39 +00:00
ebanks d07f3bb6f6 Added methods to get strand bias and to test if record has allele freq or bias fields set. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1993 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-09 04:20:35 +00:00
kiran 3313b0ddb4 Fixed a minor bug where the lodThreshold wasn't being printed in the header. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1992 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-08 16:51:36 +00:00
kiran 95d381efe2 Optionally computes the error rate using the best base and a random base. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1991 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-08 16:47:34 +00:00
kiran 567f5758d2 Optionally lists read depths by read group. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1990 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-08 16:39:19 +00:00
kiran a679bdde18 FindContaminatingReadGroupsWalker lists read groups in a single-sample BAM file that appear to be contaminants by searching for evidence of systematic underperformance at likely homozygous-variant sites. 
Procedure:
1. Sites that are likely homozygous-variant but are called as heterozygous are identified.
2. For each site and read group, we compute the proportion of bases in the pileup supporting an alternate allele.
3. A one-sample, left-tailed t-test is performed with the null hypothesis being that the alternate allele distribution has a mean of 0.95 and the alternate hypothesis being that the true mean is statistically significantly less than expected (pValue < 1e-9).



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1989 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-08 16:36:39 +00:00
kiran 2225d8176e A convenience class for maintaining a dynamically growing table of values with access to the elements by named row and column identifiers. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1988 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-08 16:34:35 +00:00
hanna 21c5f543fa Fix sharding bug -- loci to which >100,000 (= 1 shard) reads are assigned an 
alignment start will confuse the sharding system and cause it to return duplicate reads.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1987 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-08 14:27:26 +00:00
rpoplin 84ba604611 Sequential quality score calculation is now in place in the refactored recalibrator and matches the quality scores calculated by the old recalibrator exactly; at least on the small sets of data used so far. Validation, documentation, and optimization work is on going. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1985 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-07 15:55:16 +00:00
depristo bf1bc94060 Fixes for PooledConcordance bugs and lack of safety checking 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1984 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-07 01:54:10 +00:00
rpoplin 66d4a995e6 Initial check in of refactored Recalibrator. The new walkers are called CountCovariatesRefactored and TableRecalibrationRefactored. More work is needed to finish up the sequential calculation and to document the code sufficiently. These files are not ready to be used by other people quite yet. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1982 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-06 22:33:55 +00:00
ebanks 6fdfc97db6 Added optional field DP to VCF output for Mark. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1981 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-06 20:03:22 +00:00
ebanks 0a55fa5bb1 Completely refactored the Genotype Concordance module(s). 
Now PooledConcordance and GenotypeConcordance inherit from the same super class (and can therefore share data structures and functionality).  Also, they now use ConcordanceTruthTable to keep track of necessary info.
GenotypeConcordance passes integration tests.
PooledConcordance needs to be finished by Chris.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1979 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-06 16:27:16 +00:00
ebanks d549347f25 Refactored GenotypeLikelihoods to use an underlying 4-base model. 
It needs to be modified a bit and then hooked up to a pooled model, but that is now possible.
At this point, there is no difference to the Unified Genotyper.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1978 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-05 21:59:25 +00:00
jmaguire 4d3871c655 don't flush anymore. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1977 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-05 19:11:51 +00:00
aaron aacd72854f a fix for a bug Andrey discovered: in read-based interval traversals we're dupplicating reads in rare cases. The problem was that to accomidate a bug in SAM JDK indexing, we were forced to add one to the stop of our QueryOverlapping() calls to ensure we always got all of the overlapping reads. 
Added a PlusOneFixIterator that wraps other iterators, and eliminates reads that start outside of our intended interval (interval stop - 1).  Updated and checked BamToFastqIntegrationTest MD5 sums.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1976 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-05 05:26:33 +00:00
hanna 43c3ee61d5 Fix minor mapping quality bug. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1973 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-04 14:33:23 +00:00
ebanks a545859c62 Joint Estimation model now emits a reasonable slod 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1969 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-03 21:12:42 +00:00
ebanks 11d950abe0 No longer allow the lod_threshold argument - use confidence instead. 
Have UG output qscores in all cases.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1968 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-03 16:18:51 +00:00
asivache 2fb45dbd73 Make window size a command line argument 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1967 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-03 16:13:35 +00:00
asivache 55f61b1f88 Bug fix in adjustment of the shift position. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1966 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-03 16:08:11 +00:00
depristo 5d5dc989e7 improvements to VCF and variant eval support of VCF -- now listens to the filter field 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1963 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-03 12:09:30 +00:00
hanna c63af32fc7 The BWA/C bindings were triggering the local aligner to repeatedly reload the 
ref genome.  Make sure the reference genome is cached.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1961 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-03 00:01:55 +00:00
ebanks 3a33401822 2nd stage of the genotyper output refactoring is complete. 
Now, all output is generalized and all of the intelligence lies where it is supposed to.
Next stage is syncing up old and new models and making sure we're outputting exactly what we should.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1960 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-02 22:43:08 +00:00
aaron ba67c7f02b added a warning for those using bed files; we properly convert bed to the internal representation but the user needs to be aware that any output will be one-based closed intervals 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1959 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-02 21:09:18 +00:00
aaron b71b66bd88 the underlying parameter is a float so we need to use Float.valueOf() instead; Noticed by external user Hou Huabin 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1958 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-02 20:22:25 +00:00
hanna 5a510e6d98 New PackageUtils interferes with the packaging utility. Revert until Aaron and 
I can get together to make this work.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1957 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-02 19:14:14 +00:00
aaron de6ae51f7e Scala walkers can now be build and run like any other walker in the GATK. Added the getUrlsForClasspath to PackageUtils, the Reflections package isn't getting the manifest files from jars in the classpath, and so we weren't seeing any walkers outside of the GenomeAnalysisTK.jar. 
A couple of notes:
-Commented out BaseTransitionTableCalculator.scala because it's won't build; Chris could you fix this one (or kill it if it's not needed).
-Removed the PrintReadsScala walker; moved the code over to a ScalaCountLoci walker (which is what the code was really doing).
-Added configurations items to the ivy xml file.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1956 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-02 06:02:41 +00:00
hanna 1896f334d9 Fixed collection of bugs in reads aligning to multiple locations. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1955 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-02 04:02:09 +00:00
ebanks af6d0003f8 -Generalized the GenotypeConcordance module to deal with any number of individuals (although it will default to its old behavior if the -samples argument is left out). 
-Make rods return the appropriate type of Genotype calls from getGenotype().



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1954 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-01 05:35:47 +00:00
hanna b95165e39c Make alignment (temporarily) part of main GenomeAnalysisTK.jar. Add some extra logging errors on failure. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1953 348d0f76-0448-11de-a6fe-93d51630548a
 2009-11-01 00:33:18 +00:00
asivache 4b0796ba58 After fixing a few glitches and bugs, this version finally works as intended 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1952 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-31 04:59:58 +00:00
depristo 7d0ac7c6f2 Fix for long-term VariantEval bug plus new intergration test to catch it 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1951 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-31 00:00:33 +00:00
asivache ea8d5c7077 Some internal refactoring. Now "safely" ignores duplicate records (NOT duplicate reads but rather malformed bam files!) resulting from the bug/feature in CleanedReadInjector. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1949 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-30 17:50:51 +00:00
hanna a3da475c88 Documentation and cleanup. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1946 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-30 15:40:28 +00:00
hanna 2d15891719 Created walkers for alignment, validation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1945 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-30 15:04:07 +00:00
ebanks 51fffc7f69 Comments for Ryan (which also apply to ReadQualityScoreWalker). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1944 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-30 14:44:04 +00:00
ebanks ccd7440730 We can actually make this a bit simpler (and faster) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1943 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-30 04:21:03 +00:00
ebanks 1b6333e4ab Enough people have asked for this that it just needed to get written. 
One can now split up any number of sets into an N-way Venn (although it doesn't check for discordance in the calls, so you'll still want to use SimpleVenn for 2-way comparisons).
Wiki docs are updated.

To do: update to use Ryan's generic hash map when it's ready for public use.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1942 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-30 04:08:45 +00:00
ebanks 4bdb5b03bd tell UnifiedGenotyper to return calls at all bases 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1941 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-30 03:10:44 +00:00
ebanks 4ee1d6f733 -Have the calculation models determine whether a call passes the lod/confidence thresholds (as opposed to returning everything and letting the UG decide); this way, walkers which call map() will get only the good calls. 
-Do the right thing in all models for all-base-mode (for Kiran).


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1940 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-30 02:35:51 +00:00
ebanks 64ac956885 Okay, I caved in: 
CallsetConcordance now gets possible concordance types by looking at classes that implement ConcordanceType instead of having them hard-coded in.
Thanks to Kiran this was pretty easy...


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1939 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-30 00:32:26 +00:00
hanna 1f0d852a48 Fix bug where alignments with indels would be busted because bwa reverses 
the read bases to undo a previous read base reverse that doesn't occur in the
libbwa codepath.
Also fixed some memory management issues.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1938 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-29 21:33:13 +00:00
asivache e3b4d4cbed Genotyper reimplemented. Does the same thing, at least for now, but internal data structures redesign enables collecting various statistics for indel-containing/reference-matching reads. The statistics are not yet used by the caller itself to make a better judgement w.r.t. the validity of the calls it makes, but they are now printed into the output stream (--verbose). The statistics (for both normal and tumor) include: indel observation count/total coverage, av. number of mismatches per indel-containing and per ref-matching read, av. mapping quality, av. mismatch rate and av. base quality within an NQS windoew around the indel, numbers of indel and ref observations per strand. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1936 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-29 19:09:16 +00:00
hanna f04b80d7db Fixed epic memory leak. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1934 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-29 16:32:43 +00:00
ebanks 2b96b2e4e7 better multi-sample integration test 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1933 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-29 13:51:51 +00:00
ebanks 1c4ca9d383 -Mark just reminded me: actually force the ref/loc to be immutable 
-VCF writer should be blind to the score/confidence/lod value - just print the thing out as is


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1932 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-29 13:41:53 +00:00
ebanks 5cdbdd9e5b now that the design is stable, pull the setReference and setLocation methods back out of Genotype and stick them into constructors of implementing classes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1931 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-29 13:27:37 +00:00
ebanks 3091443dc7 Sweeping changes to the genotype output system, as per several discussions with Matt & Aaron. 
Some things still need to be changed, but it will entail some more design decisions first (which means I get to bug M&A again tomorrow!).


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1930 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-29 03:46:41 +00:00
depristo 86573177d1 Reverting rod walkers to use underlying refwalker implementation while we work on ROD2 and reenable the system. Added some serious sparse file parsing to variant eval tests 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1929 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-29 01:04:37 +00:00
hanna c9a3707cfd Initial version of BWA/C bindings. Still lots of squirrels roaming the code. 
- Some cigar strings aren't right.
- Memory leaks.
- BWA codebase changes aren't committed to BWA tree.
- Aligner interface butchered to support BWA/C-style alignments.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1928 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-28 21:37:49 +00:00
chartl c4359bc340 Whoops. Forgot the implements. 
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 2009-10-28 19:59:57 +00:00
aaron 5a3bd50537 adding error log reporting to the GATK, and a stream based output method for the argument collection 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1926 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-28 19:56:05 +00:00
chartl 863d3023d5 IndelCounterWalker -- a new little walker that counts indels over a region (want to see what kind of havoc BWA may be resulting in). Don't know when BasicPileup.indelPileup() was written, but kudos to whoever wrote it. 
BTTJ - remove 'N's from previous base analysis -- even if both read and ref are 'N' (which does happen, occasionally)




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1925 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-28 19:50:50 +00:00
aaron 04e9a494e9 removed the GenotypesBacked interface, which is currently unused. Also cleaned up some documentation lines 
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 2009-10-28 18:08:14 +00:00
rpoplin 06ff81efe5 Added NeighborhoodQualityWalker.java and ReadQualityScoreWalker.java which are used to calculate a read quality score based on attributes of the read and the reads in the neighborhood. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1922 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-28 13:24:11 +00:00
depristo 68fa6da788 Initial graph-based reference implementation and alignment assessor. Not suitable for public use 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1921 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-27 21:54:47 +00:00
depristo 31d143a841 now only needs READS 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1920 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-27 21:54:14 +00:00
depristo ef2ea79994 code cleanup and containsStartPosition function 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1919 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-27 21:53:40 +00:00
depristo 186a8dd698 Trivial protection for null value 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1918 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-27 21:52:52 +00:00
depristo be333da9c0 charSeq2byteSeq -- convert a char[] to a byte[] for convenience 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1917 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-27 21:52:23 +00:00
chartl 4192b093b8 More robust error handling with parallelization + usePreviousBase. Added forceReadBasesToMatchRef to use in conjunction with nPreviousReadBases as a less stringent approximation of usePreviousBases (requiring previous pileups only had mismatches, and that read mapping quality be high was throwing everything away) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1916 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-27 17:20:44 +00:00
chartl 31d5df2859 Previous base now checks that the read matches the reference in the previous base window. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1915 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-27 15:58:20 +00:00
depristo 726378be8b Almost ready to stop doing eagar decoding; waiting on Eric 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1914 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-27 15:28:05 +00:00
ebanks e96b1791ab Need to check for biallelic snp or exception gets thrown. 
Also, update to new tracker calls.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1913 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-27 02:43:43 +00:00
aaron 3fb3773098 a fix for traverse dupplicates bug: GSA-202. Also removed some debugging output from FastaAltRef walker 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1912 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-26 20:18:55 +00:00
hanna a1e8a532ad Support for initialize() and onTraversalDone() output from parallelized walkers. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1911 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-26 20:18:31 +00:00
chartl 62c1001790 BTTJ is now correct. What a terrible waste of time, turns out I'd just reversed the header. Because of this the MD5 had to be updated in the tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1910 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-26 19:24:18 +00:00
sjia 24c7f694e6 Handles allele frequencies for any specified population, changed user input for mismatch filter options 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1909 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-25 22:51:56 +00:00
chartl db9419df49 @ Hack to allow output from onTraversalDone() 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1908 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-25 15:19:04 +00:00
ebanks 75ad6bbef7 Check that map isn't being called passing in null arguments. 
(This seems wrong; see JIRA entry GSA-211)


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1907 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-25 02:30:36 +00:00
depristo b4f55df600 Bugfix for Jason F 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1906 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-24 22:09:27 +00:00
hanna 65b98470f3 Temporary fix: have RodLocusView manage and close its RODs. Really the 
relationship between these two classes needs to be rethought; see JIRA
GSA-207.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1904 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-23 16:00:12 +00:00
aaron ad1fc511b1 intermediate commit for some changes in the Variation system, so Eric can go ahead with his changes. Everything is pretty set, but the Variation interface could use a convenience method that joins all the alternate alleles. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1903 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-23 06:31:15 +00:00
ebanks 6c338eccb8 Joint Estimation model now emits calls in all formats. 
The whole GenotypeCall framework needs to be changed, but this will work for the time being.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1902 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-23 03:07:28 +00:00
chartl a6dc8cd44e BTTC is now Tree Reducible allowing for parallelization. 
Integration test comment changed to reflect actual date of last md5 update.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1901 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-22 23:19:29 +00:00
hanna 2e552eb5a1 Validates intervals against sequence dictionary header bounds. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1900 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-22 19:31:15 +00:00
ebanks 54c61c663c -Cleanup of the Joint Estimation code 
-Don't print verbose/debugging output to logger, but instead specify a file in the argument collection (and then we only need to print conditionally)


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1899 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-22 15:25:29 +00:00
asivache 2cab4c68d4 Added method: isCodingExon(). Returns true if position is simultaneously within an exon AND within coding interval of any single transcript from the list. The old method of detecting coding positions as isExon() && isCoding() is buggy, as the position could be in the UTR part of one transcript (isExon() is true), and within coding region bounds (but not in the exon) of another transcript (isCoding() is true). As a result UTR positions would be erroneously annotated as coding. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1898 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-22 14:55:07 +00:00
chartl af761fb9bd Base transition table now forces epsilon/3 (three-state) model for the unified genotyper. Verified to be identical with changing the default model to being epsilon/3. This of course changes the observed counts, so the integration test has been updated. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1897 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-21 21:18:26 +00:00
ebanks 55fa1cfa06 -Renamed new calculation model and worked out some significant xhanges with Mark 
-Allow walkers calling the UG to pass in their own argument collections


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1896 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-21 20:49:36 +00:00
chartl 8e3f72ced9 BTTJ - Code refactoring (major) - passes integration test 
VariantEvalWalker - whoops, wrote PooledGenotypeAnalysis rather than PooledAnalysis, now passes tests again

- PooledFrequencyAnalysis - don't bother initializing matrices if this isn't a pool




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1895 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-21 19:04:51 +00:00
depristo 15a1849758 notes for chartl 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1894 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-21 18:31:31 +00:00
chartl 77863d4940 @PowerBelowFrequency 
+ Changes to doc

@ BasicPoolVariantAnalysis
    + use char rather than ReferenceContext
    + calculate # alleles

@ PooledFrequencyAnalysis
    + breakdown of call metrics by estimated number of alleles in pool

@ VariantEvalWalker
    + add PooledFrequencyAnalysis to analysis set

@ PooledGenotypeConcordance
    + correctly calculate maximal allele frequency for output




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1893 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-21 15:17:11 +00:00
chartl 967128035e Make command like args default to false. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1892 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-21 13:59:35 +00:00
ebanks 9b9744109c Mark's new unified calculation model is now officially implemented. 
Because it doesn't actually use EM, it's no longer a subclass of the EM model.

Note that you can't use it just yet because it doesn't actually emit calls (just prints to logger).  I need to deal with general UG output tomorrow.  Hold off until then, Mark, and then you can go wild.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1891 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-21 02:39:23 +00:00
depristo caa3187af8 Enabling correct high-performance ROD walker and moved VariantEval over to it. Performance improvements in variantEval in general. See wiki for full description 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1890 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 23:31:13 +00:00
chartl 4a8a6468be Use read group as a condition for confusion tables. With an integration test. 
Changed BaseTransitionTable to comparable objects for consistent ordering of output
( e.g. so the integration test doesn't yell so much )




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1889 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 19:39:32 +00:00
chartl b83df5616a Change for lower-case references (always compare upper case bases) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1888 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 17:36:31 +00:00
chartl 3b1fabeff0 Major code refactoring: 
@ Pooled utils & power
   - Removed two of the power walkers leaving only PowerBelowFrequency, added some additional
     flags on PowerBelowFrequency to give it some of the behavior that PowerAndCoverage had
   - Removed a number of PoolUtils variables and methods that were used in those walkers or simply
     not used
   - Removed AnalyzePowerWalker (un-necessary)
   - Changed the location of Quad/Squad/ReadOffsetQuad into poolseq

@NQS
   - Deleted all walkers but the minimum NQS walker, refactored not to use LocalMapType

@ BaseTransitionTable
   - Added a slew of new integration tests for different flaggable and integral parameters
   - (Scala) just a System.out that was added and commented out (no actual code change)
   - (Java) changed a < to <= and a boolean formula


Chris



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1887 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 14:58:04 +00:00
aaron 4be6bb8e92 added a check to ensure the eval track variation is bi-allelic. Also changed some string constants over to enums. For some reason my check-ins from home wouldn't work last night, so this is the actual changes for 1884. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1886 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 14:15:33 +00:00
depristo 449a6ba75a Deleting lots of code as part of my cleanup. More classes tagged for removal. Many more walkers have their days numbered. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1885 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 12:23:36 +00:00
aaron d749a5eb5f added a check to ensure the eval track variation is bi-allelic. Also changed some string constants over to enums 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1884 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 04:56:51 +00:00
ebanks b8ab77c91c Don't filter out reads without proper read groups. Instead, allow the user (or another walker calling UG) to specify an assumed sample to use (but then we assume single-sample mode). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1883 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 01:30:53 +00:00
depristo a8a2c1a2a1 Replaced SSG with UG in packaging utils. Minor performance and formatting improvements for ClipReads 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1882 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 01:19:58 +00:00
ebanks c29924e7cf Reverting previous change. 
Aaron, it's all yours...


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1881 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 00:55:24 +00:00
aaron d21b582b18 memory leak, where the Resource Pool was releasing based on the value and not the key, resulting in the resourceAssignments map growing with each additional shard 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1880 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 00:39:42 +00:00
ebanks 761a730758 assertBiAllelic -> assertMultiAllelic. 
Chris, if this breaks an integration test, you get it.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1879 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-20 00:09:46 +00:00
depristo 2a26bb42dd Softclipping support in clip reads walker. Minor improvement to WalkerTest -- now can specify file extensions for tmp files. Matt -- I couldn't easily create non-presorted SAM file. The softclipper has an impact on this. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1878 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-19 21:54:53 +00:00
chartl 055a99fb05 Change in ordering for a disjunctions. Walker will no longer try to calculate number of simple mismatches in the pileup if the pileup includes 'N's. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1877 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-19 18:24:14 +00:00
chartl 10bde9e77b Integration test for BTT calculator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1876 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-19 18:21:55 +00:00
aaron cfa86d52c2 ensure that in the indel case we don't allow identification as both an insertion and deletion at the same location in the VCF ROD 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1875 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-19 18:21:00 +00:00
chartl 3d50c72d74 Forgot a dumb little System.out.println. You will be flooded with "This read will not be used." statements until, overwhelmed, you give in to my demands. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1874 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-19 16:13:48 +00:00
chartl 225ef52973 Now produces same output as the Scala walker for unconditioned tables (no 2bb, no previous base, etc.) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1873 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-19 16:10:44 +00:00
ebanks bb180a23ef Updated MD5 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1871 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-18 05:30:38 +00:00
ebanks 51f9ec0a5c subtract largest posterior value from all values; this hopefully solves any precision issues 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1870 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-18 05:20:15 +00:00
ebanks b9e8867287 -push allele frequency and genotype likelihood variable definitions down into the subclasses so that they can use different data structures 
-use slightly more stringent stability metric
-better integration test



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1869 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-18 04:22:17 +00:00
depristo d6385e0d88 simpleComplement function() in BaseUtils. Generic framework for clipping reads along with tests. Support for Q score based clipping, sequence-specific clipping (not1), and clipping of ranges of bases (cycles 1-5, 10-15 for example). Can write out clipped bases as Ns, quality scores as 0s, or in the future will support softclipping the bases themselves. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1868 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 22:29:35 +00:00
chartl ad777a9c14 @BasicPileup - made the counts public so they can be used 
@PoolUtils - split reads by indel/simple base

@BaseTransitionTable - complete refactoring, nicer now

@UnifiedArgumentCollection - added PoolSize as an argument

@UnifiedGenotyper - checks to ensure pooled sequencing uses the appropriate model

@GenotypeCalculationModel - instantiates with the new PoolSize argument




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1867 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 21:56:56 +00:00
andrewk bdb34fcf38 Updated integration tests for VariantEval. Hooray for IT! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1866 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 20:00:29 +00:00
aaron 41a95cb3f0 fixing unified genotyper test for change: VCF output now emits no calls as ./. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1865 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 19:38:58 +00:00
hanna 85a4fbc256 Bumping version of Picard for firehose compatibility. 
Integration tests were validated against svn rev 1861, before the wonder
twins committed their changes.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1864 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 19:38:56 +00:00
aaron 8aacc43203 VCF output now emits no calls as ./. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1863 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 18:51:31 +00:00
andrewk d1a4cd2f73 Added ValidationData analysis type to VariantEvalWalker; this eval takes a GFF file with validated truth data positions (bound to "validation")and calculates the accuracy of the genotype calls bound to "eval". 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1862 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 15:39:08 +00:00
ebanks 07b134a124 Added some integration tests for multiple samples 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1861 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 15:22:10 +00:00
ebanks 418e007ca6 A cleaner interface: now everyone can use UG's initialize method 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1860 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 14:09:16 +00:00
aaron 96972c3a5c a fix for a bug Eric found: if your first call contains fewer samples than calls at other loci, your VCFHeader got setup incorrectly. 
Also moved a buch of Lists over to Sets for consistancy.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1859 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 04:57:50 +00:00
aaron a69ea9b57c Cleaning up the VCF code, adding lots of tests for a variety of edge cases. Two issues are still outstanding: updating the no call string with the standard 1000g decided on today, and fixing Eric's issue where not all the VCF sample names are present initially. 
also: their, I hope your happy Eric, from now on I'll try not to flout my awesomest grammer in the future accept when I need to illicit a strong response :-)

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1858 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 04:11:34 +00:00
ebanks b82c3b6040 Better error output (and fixed spelling mistakes) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1857 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 01:01:45 +00:00
ebanks 993c567bd8 I had to remove some of my more agressive optimizations, as they were causing us to get slightly different results as MSG. Results in only small cost to running time. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1856 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-16 00:59:32 +00:00
asivache 7d7ff09f54 throw an exception if read has no associated read group 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1855 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-15 18:11:32 +00:00
chartl b9544d3f89 Output formatting change (very slight) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1854 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-15 16:47:29 +00:00
hanna 839c5d66bc Read uints directly into longs. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1853 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-15 16:15:11 +00:00
hanna ce38fa7c81 Breaking the signed int glass ceiling; stage 1: convert critical ints to longs. Code cleanup and documentation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1852 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-15 15:28:56 +00:00
kcibul 79993be46c changed blank gene name to UNKNOWN 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1851 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-15 13:47:00 +00:00
depristo 0c2016c19a Improved error messages -- now easier to read, points to the GATK Error Messages wiki, and avoids double printing of stack traces 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1850 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-15 12:07:44 +00:00
aaron a9094c835c clean-up and fixes to the VCF input 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1849 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-15 04:53:59 +00:00
ebanks a32470cea1 Deal with the fact that walkers can call UG's init/map functions directly. 
We need to filter contexts in that case since the calling walkers don't get UG's traversal-level filters.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1848 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-15 02:31:45 +00:00
hanna 8dca236958 Base-packed reader cleanup. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1847 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-15 01:26:23 +00:00
hanna 316b30ee56 On the road to human: make sure the suffix array will fit in a Java array. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1846 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 21:45:35 +00:00
ebanks e740e7a7ce Because walkers call UG's map function, we need to move the actual writing out 
to UG's reduce function.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1845 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 20:49:26 +00:00
kcibul 825e6c7a4d added calculation for bases over 2x,10x,20x,30x plus gene name 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1844 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 20:32:26 +00:00
aaron 727b69fce0 catch null output destinations earlier 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1843 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 20:07:15 +00:00
chartl 1f66738c8e Fix a hashing function bug. Ignore reads with non-reference bases in the pileup. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1842 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 19:41:26 +00:00
hanna 72c34f11dd Bug fixing for BWA output formats. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1841 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 19:32:22 +00:00
aaron 60183229ab the oldest java mistake in the book... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1840 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 19:32:13 +00:00
ebanks 52d2e0ca07 All walkers now use read.getReadGroup() 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1839 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 19:27:40 +00:00
chartl 0a09fa4d5c Rename to distinguish this transition table calculator from the scala version. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1838 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 18:52:21 +00:00
chartl 1d055011bd Getting rid of this so I can rename it without the world blowing up. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1837 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 18:45:11 +00:00
aaron eb90e5c4d7 changes to VCF output, and updated MD5's in the integration tests 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1836 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 18:42:48 +00:00
ebanks 89771fef05 -Use read.getReadGroup() 
-Add another filter for read groups for Chris


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1835 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 18:08:32 +00:00
ebanks 311ab8da5a A helper class to create the masks for the sequenom design maker. 
This project is now officially done.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1834 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 17:28:51 +00:00
hanna 3553fc9ec0 Preparing for human -- support bwa output files directly rather than relying on a custom fixed sa interval. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1833 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 17:17:46 +00:00
ebanks d89bc2c796 This class no longer outputs in sequenom format 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1832 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 17:16:36 +00:00
ebanks 0c95d6906f Merge both versions of the Sequenom assay design maker: use Jared's base code and add in indels. [Jared, this still emits the same output for SNPs as your original version) 
Remove all sequenom stuff from the FastaAlternateReferenceMaker so it can just concentrate on making alternate references...


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1831 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 17:11:45 +00:00
ebanks 49af5269e5 Jared: feel free to change or revert, but until we move over to UG version... 
Only print out positions with at least one non-ref call


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1830 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 17:08:57 +00:00
chartl f5a2e6dd50 Fix! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1829 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 16:15:20 +00:00
ebanks f2886d88e0 We now emit genotype calls 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1828 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 02:49:56 +00:00
ebanks 1b214c0de5 Fixed logic: throw exception if contigs are NOT equal 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1827 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 02:48:44 +00:00
ebanks aeca14d052 On our side of 5CC, we spell multi M-U-L-T-I. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1826 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 01:41:25 +00:00
ebanks c9c8fd1fef Added the discovery LOD score to the meta data 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1825 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-14 01:24:06 +00:00
ebanks 0c06bf9dbc Explicitly set output to GELI now that default is VCF 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1824 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 22:12:03 +00:00
hanna a76fac4687 Cleanup existing speedups. Minor performance improvements. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1823 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 21:51:18 +00:00
hanna 837ae1d33a Optimization: from 22k reads/min - 30k reads/min. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1822 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 20:59:29 +00:00
ebanks 96b8499a31 Remodeled version of the UnifiedGenotyper. 
We currently get identical lods and slods as MultiSampleCaller (except slods for ref calls, as I discussed with Jared) and are a bit faster in my few test cases.  Single-sample mode still emulates SSG.
The remaining to do items:
1. more testing still needed
2. we currently only output lods/slods, but I need to emit actual calls
3. stubs are in place for Mark's proposed version of the EM calculation and now I need to add the actual code.
More check-ins coming soon...


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1821 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 20:27:01 +00:00
ebanks b28446acac Multi-sample calls now have associated meta-data (SLOD, allele freq), which wil 
l soon actually be used...


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1820 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 20:08:43 +00:00
hanna db642fd08b Optimization: from 10k reads/sec - 22k reads/sec.. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1819 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 18:07:15 +00:00
aaron 77499e35ac fixes for GSA-199: Need easier way to write binary outputs to standard output. GLF and VCF now have stream constructors, and can get dumped to standard out. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1818 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 15:50:20 +00:00
hanna f37564e63a Our BWA is now looking at roughly the same number of candidate alignments as BWA/C. Performance is now at 11k reads / min, still a long way from BWA/C. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1817 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 15:50:04 +00:00
chartl 8d0e057d83 I got bored today and decided to write the confusion matrix calculator. At present it is untested. I'm submitting it to subversion to make sure 
I have  previous revision to revert back to.


This is a calculator that will calculate:

P[ True base is X | read base mismatches, secondary base is Y, previous K bases are Z1,Z2,...ZK ]

where the number of pervious reference bases to take into account is user-defined. The secondary base is optional as well.

--usePreviousBases k

tells the walker to use the k previous reference bases in the transition table

--useSecondaryBase

tells the walker to use the secondary base at a locus in the transition table

these can be used together.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1816 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 02:55:29 +00:00
ebanks be92a1e603 Don't try to close if the lazy initialize hasn't triggered 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1815 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-13 01:20:25 +00:00
chartl ec83bc6ec5 This somehow didn't make it into subversion the last time. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1814 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-12 21:11:13 +00:00
chartl ecbb11e017 Modified PowerBelowFrequency to ignore reads below a user-defined mapping quality. Request from Jason Flannick. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1813 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-12 20:59:24 +00:00
chartl ec68ae3bc5 Added a filter that will split the read set by a threshold of mapping quality (Request from Jason Flannick) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1812 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-12 20:58:37 +00:00
chartl 0d73fe69e7 Recalibrator by NQS. Had this puppy running all afternoon. Thing had got through 100,000,000 reads before I decided to delete my sting tree. *sigh*, a little more delay. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1811 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-12 20:55:02 +00:00
chartl ee0afba0af Recalibration stuff... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1810 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-12 20:51:39 +00:00
ebanks caf689821f added method to get normalized posteriors 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1809 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-12 02:33:22 +00:00
ebanks cf7a26759d -use the getReadGroup() function that was added to picard for us 
-clean up some include lines


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1808 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-12 01:39:32 +00:00
hanna d844d1c496 SAMFileWriters specified as command-line arguments were sometimes incorrectly altering the default short name. Make sure short name is not specified if shortName is not specified but fullName is. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1807 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-09 19:16:46 +00:00
hanna da084357db Fixed minor typo in output message. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1806 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-09 18:56:54 +00:00
aaron 62c484b57a Fixes for GSA-201, where enumerated types in command line arguments had to be defined as all uppercase for the system to work. 
Also a little playground walker that changes the sort order flag of a BAM file.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1805 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-09 18:11:32 +00:00
hanna 32d55eb2ff Fix issue Eric was seeing with java.lang.Error in unmap0. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1804 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-09 17:46:56 +00:00
ebanks 9f3482ef11 VCF is both a multi- and single- sample format, so we shouldn't be throwing an exception when used for SS 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1803 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-09 17:43:26 +00:00
jmaguire d9f5a314ac avoid an out of memory error by no putting more than 5000 reads in the cache. on pilot1 at least those are crazy loci anyway. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1802 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-09 14:56:55 +00:00
hanna f4b6afb42c JVM issue id 5092131 (http://bugs.sun.com/bugdatabase/view_bug.do?bug_id=5092131) 
was causing OOM issues with the new mmapping fasta file reader during large jobs.
Temporarily reverting the reader until a workaround can be found.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1801 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-09 04:45:46 +00:00
chartl 6d7f4481e4 Changed traversal type slightly 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1800 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-09 04:11:48 +00:00
ebanks a9f3d46fa8 Your time has come, SSG. 
Fare thee well.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1799 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 20:27:56 +00:00
jmaguire 8fdb8922b8 now output in the exact format that works with sequenom software. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1798 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 20:06:27 +00:00
aaron 98e3a0bf1a VCF can now be emitted from SSG. The basic's are there (the genotype, read depth, our error estimate), but more fields need to be added for each record as nessasary. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1797 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 19:50:04 +00:00
hanna 95f24d671d Fixed 'visualization' of reads that didn't match bwa's alignments exactly. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1796 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 19:45:30 +00:00
kiran 29ad6cd876 Made redundant by BCMMarkDupes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1795 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 18:47:20 +00:00
kiran 94d82d1915 Matthew Bainbridge's duplicate removal utility for 454 data. This code should eventually be moved into a read walker. For now, it's being introduced into the repository as-is (well, with one minor change to make the handling of command-line arguments a little more straightforward). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1794 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 18:32:37 +00:00
ebanks 15bf014e0b logger.info -> logger.debug (don't want to risk filling up my log on genome-wide calls) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1792 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 17:53:11 +00:00
ebanks df8ea8f437 UG integration test. This was the old SSG test with MD5s updated. 
I'll need to add some multi-sample tests in a bit...


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1791 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 17:43:58 +00:00
ebanks 008455915a One way of making the integration test stop failing is to remove it... 
[waiting for Matt to cringe...]


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1789 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 17:08:41 +00:00
chartl f89a89ffe3 Use of AlleleFrequency as an input to PowerAndCoverage is deprecated by the new walker. Reverting to the standard "power at 1 allele" calculation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1788 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 16:07:45 +00:00
chartl ae05f5c7ad Fixin the header. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1787 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 15:49:28 +00:00
chartl 11ff1e09b8 A new power walker for the user to feed in a number of alleles. Call that number k. Output is: 
Locus Power_for_k_alleles  Power_for_k-2_alleles  Power_for_k-2_alleles ... Power_for_1_allele

This was a request from Jason Flannick & the T2DB group.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1786 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 15:35:35 +00:00
ebanks 04fe50cadd *** We no longer have a separate model for the single-sample case. *** 
For now, a single sample input will be special-cased in the EM model - but that will change when the EM model degenerates to the single sample output with a single sample as input.  For now, the EM code for multi-samples isn't finished; I'm planning on checking that in soon.

The SingleSampleIntegrationTest now uses the UnifiedCaller instead of SSG, and so should all of you.  More on that in a separate email.
Other minor cleanups added too.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1785 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 14:08:57 +00:00
jmaguire 32128e093a misc. changes to get the numbers back to the baseline while keeping the speedup. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1784 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 12:27:07 +00:00
jmaguire d38a0d04b9 fix a snp mask offset error. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1783 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 12:25:40 +00:00
kiran 829e99413b Rescores a variant after removing duplicates (defined very strictly as reads with the same start points). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1782 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 03:07:36 +00:00
hanna fcb6a992c8 Switched IndexedFastaSequenceFile over to use memory mapping to load data rather than 
the loop-with-small block size.  Performance improvements in loading refs are extreme;
segments can be loaded in <1ms.  chr1 in its entirety can be loaded in 1.5sec (down
from 30sec).


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1781 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-08 00:07:15 +00:00
jmaguire 02d2492d68 Simple tool for picking sequenom probes for SNPs. Can be extended to indels if necessary. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1780 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-07 23:46:41 +00:00
ebanks 1905b5defa Hash by chromosome for now to reduce memory. This is a temporary solution until we decide how to reture the Injector for good. 
Also, with Picard's latest changes, we need to make sure we don't double-close the sam writer.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1779 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-07 20:06:25 +00:00
ebanks f9a1598d75 Reformatting 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1778 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-07 20:03:34 +00:00
ebanks 203c626fc2 A wrapper around the GenotypeLikelihoods class for the UnifiedGenotyper. This wrapper incorporates both strand-based likelihoods and a combined likelihoods over both strands. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1777 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-07 19:57:37 +00:00
sjia 5bdcc2b4dc Included HLA class 2 genes in CreatePedFileWalker 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1776 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-07 18:46:51 +00:00
sjia 8f896b734f Included HLA class 2 genes in CreatePedFileWalker 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1775 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-07 18:28:01 +00:00
aaron f9a0eefe4b GELI_BINARY is now functional, and can be used as a variant type in SSG (-vf=GELI_BINARY). Also fixed the max mapping quality column in both GELI output formats, we haven't been correctly outputing up until now. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1774 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-07 18:20:34 +00:00
chartl 225b9bccc1 Modifications to NQSClusteredZScoreWalker to output empirical mismatch rates on bins by both Z-score and reported Q-score, rather than averaging over all Q-score bins for each Z-score. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1773 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-07 13:45:12 +00:00
depristo 8dd0924b37 Minor performance improvements to VariantEval -- now all of the CPU time is spent dealing with the ROD system... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1772 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-06 23:40:30 +00:00
aaron 4554ca1b28 more cleanup, depecaited the old genotype, corrected SNPCallsFromGenotypes' imports and two other classes that depend on it. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1771 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-06 19:09:27 +00:00
aaron 3aec76136f Removing the AllelicVariant interface, which is replaced by the Variation interface. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1770 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-06 17:44:24 +00:00
depristo 1bd0c3c145 variant eval allows non Variation rod objects 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1768 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-06 13:04:26 +00:00
aaron 66fc8ea444 GSA-182: Adding support for BED interval files. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1767 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-06 02:45:31 +00:00
hanna aec83b401d SSG multithreading doesn't play well with some I/O changes made since I last svn up'd. Reverting until I can find the reason. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1766 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-05 19:48:57 +00:00
hanna 8a503c86b6 Code supporting SSG proof-of-concept shared memory parallelism. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1765 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-05 18:56:16 +00:00
ebanks fb619bd593 -Refactoring: make GenotypeCalculationModel constructors empty so that they don't have to be updated every time we add a new parameter; instead put that logic in the super class's initialize method (making everything protected so that only the factory can access them) 
-Adding initial version of Multi-sample calculation model.  This still needs much work: it needs to be cleaned up and finished.  Right now, it (purposely) throws a RuntimeException after completing the EM loop.

Also:
-Fix logic in GenotypeLikelihoods.setPriors
-Add logger to the models for output






git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1764 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-05 18:10:36 +00:00
sjia 98076db6b4 Modified CreatePedFileWalker to output PED file given HLA allele names 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1763 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-05 03:06:42 +00:00
hanna 56bc4fa21a Fixed bug where not all alignments were returned if read aligned to multiple locations. Enhanced test suite to validate all alignments. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1762 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-04 18:20:20 +00:00
hanna 05aa928e3e Fix off-by-number-of-deletions issue with negative strand reads. Improved performance by factor of 2.5x. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1761 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-03 21:55:18 +00:00
chartl 7605ee500c Idiocy! All tests were being disabled because I forgot the instanceof 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1760 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-02 20:04:56 +00:00
chartl 88d0890cc3 Made PooledGenotypeConcordance a standard test in VariantEval 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1759 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-02 20:03:31 +00:00
aaron 7fc4472e6d A big fix for MergingSamRecordIterator, where we weren't correctly handling the comparisons of SAMRecords correctly (we weren't applying the new reference index first, so sometimes the MT contig would be ID 23, sometimes 24 in different records). 
Also a fix to the GLF tests, and a correction to PrintReadsWalker to remove the close() on the output source, the source handles that itself (and you get a double close).

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1758 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-02 19:35:35 +00:00
chartl 68cb2ee54b Tweaks to parameters for NQS analysis walkers; change to PowerAndCoverage for Jason Flannick (can input the number of alleles to compute power for - i.e. doubletons, tripletons; rather than statically checking singletons. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1757 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-02 19:11:27 +00:00
ebanks 7249fade05 updated 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1756 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-02 18:10:34 +00:00
ebanks 53a4bd7f51 A better understanding of what's going on means no need for clearing the cache 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1755 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-02 18:07:46 +00:00
aaron e885cc4b21 changes for corrected GLF likelihood output, along with better tests 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1754 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-01 20:45:05 +00:00
hanna 2309d19f6f Bug fix from Michael Ross: mark second read in sequence as second of pair. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1753 348d0f76-0448-11de-a6fe-93d51630548a
 2009-10-01 14:34:36 +00:00
aaron 2e4949c4d6 Rev'ing Picard, which includes the update to get all the reads in the query region (GSA-173). With it come a bunch of fixes, including retiring the FourBaseRecaller code, and updated md5 for some walker tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1751 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-30 20:37:59 +00:00
ebanks 303972aa4b Yup, I broke the build... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1750 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-30 20:20:43 +00:00
ebanks 841d25cc44 Added ability to set the priors after construction (and requiring a flushing of the likelihoods cache) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1749 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-30 19:55:49 +00:00
hanna 665951f9f0 Support negative strand alignments. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1748 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-30 18:10:26 +00:00
hanna d3b1732cca Start of refactoring effort. Make construction of alignment object simpler. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1747 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-30 15:19:31 +00:00
hanna 70e1aef550 Better integrate the @ArgumentCollection into the command-line argument parser. Walkers can now specify their own @ArgumentCollections. Also cleaned up a bit of the CommandLineProgram template method pattern to minimize duplicate code. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1746 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 22:23:19 +00:00
aaron b1c321f161 Adjusted Genotype concordance to more accurately use the new Genotyping code, fixed the VCF rod, and temp. fix the build by reintroducing Shermans ReadCigarFormatter 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1745 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 21:28:21 +00:00
sjia 9b78a789e2 HLA Caller 2.0 Walkers: 
CalculateBaseLikelihoodsWalker.java walks through reads calculates likelihoods using SSG at each base position
CalculateAlleleLikelihoodsWalker.java walks through HLA dictionary and calculates likelihoods for allele pairs given output of CalculateBaseLikelihoodsWalker.java
CalculatePhaseLikelihoodsWalker.java walks through reads and calculates likelihoods score for allele pairs given phase information

File Readers:
BaseLikelihoodsFileReader.java reads text file of likelihoods outputted by SSG
FrequencyFileReader.java reads text file of HLA allele frequencies
PolymorphicSitesFileReader.java reads text file of polymorphic sites in the HLA dictionary
SAMFileReader.java reads a sam file (used to read HLA dictionary when in another walker)
SimilarityFileReader.java reads a text file of how similar each read is to the closest HLA allele (used to filter misaligned reads)

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1744 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 20:45:55 +00:00
chartl 281a77c981 Bugfix. isMismatch() was actually computing isMatch(). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1743 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 20:04:59 +00:00
chartl e28b45688c More NQS Related Walkers to play with 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1742 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 20:01:04 +00:00
ebanks 9ef80e3c3c One minor addition: to incorporate Pooled calling (and to be as general as possible), we allow the genotype calculation model to use rods if it wants. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1741 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 17:05:59 +00:00
ebanks 19bfe43173 First pass at a unified caller, being checked in now so Mark can give feedback if he chooses and so Matt can debug issues with the ArgumentCollection class. 
Some notes:
1. This design should be flexible enough to include pooled calling (for now) after discussions with Chris.
2. Using the unified caller with the SingleSampleCalculationModel emits the exact same output as SSG over all of chr20 for NA12878.  Additionally, when we include the "max deletions allowed at a locus" argument (so we don't try to call SNPs at deletion sites), it removed 233 SNP calls in chr20 that were clearly indel artficts.
3. The MultiSampleEMCalculationModel is still a work in progress and will be checked in later this week.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1740 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 16:48:15 +00:00
ebanks 8bd345ba00 Generalized deletions in pileup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1739 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 15:58:43 +00:00
andrewk 6134f49e3c Convert de novo SNP caller to run using parent1 and parent2 BAM files (by splitting contexts by reader using getMergedReadGroupsByReaders) instead of geli files providing a large speed-up and obviating the need for large whole-genome geli files. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1738 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 06:42:21 +00:00
andrewk 5dab95aa5a Fix getMergedReadGroupsByReaders so that it provides read groups in the same way Picard does so that it works correctly when input read files have no clashes in their read groups and retain their original read group names. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1737 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-29 06:35:50 +00:00
andrewk 5662a88ee1 Cosmetic change to list sampling functions: the typical usage of n and k were reversed. No change in functionality of the classes has been made and unit tests still pass. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1736 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-28 18:12:32 +00:00
aaron 39598f1f0a switching the concordance walker over to the new Variation system 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1735 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-28 15:46:36 +00:00
asivache bce2f0d7cf Now instantiates the list of alternative consenses to evaluate as LinkedHashSet to guarantee iterator traversal order. Old implementation used HashSet and exhibited unstable behavior when two alt consenses turned out to be equally good: depending on the run conditions (including size of the interval set being cleaned??), either one could be seen first as selected as the 'best' one 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1734 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-28 06:15:46 +00:00
asivache 663175e868 Bug fix: when jumping onto next contig (chromosome), the walker was erasing last mismatch interval from the previous chr it was still holding without printing it; now it gets printed. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1733 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-25 22:24:34 +00:00
asivache 92c6efabb7 moving IndelGenotyper out of playground 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1732 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-25 19:44:49 +00:00
asivache aec61c558b moving IndelGenotyper out from playground 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1731 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-25 19:43:53 +00:00
chartl fe6d810515 Some basic commits that I've been sitting on for a while now: 
@ PooledGenotypeConcordance - changes to output, now also reports false-negatives and false-positives as interesting sites. It's been like this in my directory for ages, just never committed.

@NQSExtendedGroupsCovariantWalker - change for formatting.

@NQSTabularDistributionWalker - breaks out the full (window_size)-dimensional empirical error rate distribution by the window. So if you've got a window of size 3; the quality score sequences 22 25 23 and 22 25 24 have their own bins (each of the 40^3 sequences get one) for match and mismatch counts.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1730 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-25 19:35:50 +00:00
sjia f7684d9e1b ImputeAllelesWalker fills missing portions of HLA dictionary based on best allele matches 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1729 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-25 18:51:46 +00:00
sjia 235de38c2e Updates to FindClosestAlleleWalker and CreateHaplotypesWalker 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1728 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-25 16:41:58 +00:00
aaron 130a01a40a delete the integration test temp files when the test is over 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1727 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-25 16:34:08 +00:00
aaron 2b7d39035a switched over the FastaAlternateReferenceWalker to the Variation system 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1726 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-25 16:09:43 +00:00
aaron 7ffc1d97ef Cut DeNovoSNPWalker over to the new Variation system, some renaming of methods on the Variation interface, and some corrections on the interface. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1724 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-25 04:35:52 +00:00
depristo 392152f149 1000x performance improvements to MSG for crisis control 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1723 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 23:44:33 +00:00
hanna 44879c81b0 Add in weights. Massive performance improvements. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1722 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 23:19:15 +00:00
hanna 3b79f9eddc Support 'N's and other mismatch characters in the reference. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1721 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 21:41:30 +00:00
hanna 08e8d2183a Indels supported. Variable gap penalties are not yet taken into account. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1720 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 21:03:02 +00:00
aaron d2af26e81f Pooled EM SNP Rod converted over to the Variation interface 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1719 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 16:33:11 +00:00
ebanks 97105ac001 We need to return a null RODRecordList when the default value is null (as opposed to a list with a single null value), because that's what everyone is expecting. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1718 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 16:23:12 +00:00
ebanks d4b40bc06f Filter for reads with missing read groups so we can safely assume all reads have valid read groups 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1717 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 16:10:26 +00:00
ebanks 90de2e0cde Added ability to specify whether you want to use a point estimate or fair coin test calculation; for now you can use either but fair coin test is still experimental as it needs to be parametrized correctly. This job will hopefully be done by the future Bioinformatic Analyst... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1716 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 15:29:50 +00:00
aaron d262cbd41c changes to add VCF to the rod system, fix VCF output in VariantsToVCF, and some other minor changes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1715 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 15:16:11 +00:00
sjia 1ee8ba590c Reads cigar files 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1713 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 03:14:10 +00:00
sjia 9422156e09 Finds closest allele for each read in bam file 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1712 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 03:12:20 +00:00
sjia 5c5151c4e7 Creates ped file from reads 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1711 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-24 02:48:29 +00:00
hanna b0ec7fc144 More comprehensive testing of BWT (mismatches only) module, and lots of bug fixes. 
Limitations:
1) Can't handle RC alignments.
2) Can't handle indels.
3) Can't handle N's in reference bases.
4) Stops at first hit.

Ran BWT over a test suite of 800k Ecoli reads.  After removing alignments with indels / reads with Ns, the remaining reads were aligned with quality 'equal to' that of the alignment stored in the BAM file.  In this case 'equal' quality is <= mismatches to the reference as the existing alignment stored in the BAM file.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1710 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 23:44:59 +00:00
sjia b446b3f1b6 CreateHaplotypeWalker now gives correct output 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1709 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 21:13:52 +00:00
aaron eeb14ec717 a couple of light changes to GenomeLocSortedSet. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1708 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 20:38:53 +00:00
sjia 3916e165fb New walker to output haplotypes for each read (for SNP analysis or imputation, etc) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1707 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 20:26:43 +00:00
ebanks 423a3ee894 Added a sequenom rod to empower Carrie to convert 1KG validation SNPs to sequenom format 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1706 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 20:22:09 +00:00
chartl 63f3d45ca4 fixing the build 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1705 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 20:04:09 +00:00
chartl 540e1b971f And we fix one boneheaded mistake, which was actually causing the problem; though the last change was still correct. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1704 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 19:26:45 +00:00
chartl 124ca68fa8 And an IMMEDIATE minor fix (want neighborhood quality > base quality to be represented correctly) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1703 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 19:21:09 +00:00
chartl 8cdb78ebee More sophisticated version of the NQSCovariantWalker - modified to be more explicit about how much higher the 
quality score of a particular base is than the quality score of its neighbors. The granularity of the binning
jumps from 32 groups to 860 groups.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1702 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 19:18:24 +00:00
hanna 856bbd0320 Let Picard specify the default compression level. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1701 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 19:01:48 +00:00
aaron f783cb30e0 adding an interface so that the current @Requires with ROD annotations work in walkers like VariantEval 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1700 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 18:24:05 +00:00
hanna ebfbe56b43 Make sure compression level always gets pushed into SAMFileWriterFactory. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1699 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 18:20:26 +00:00
asivache fa87dd386d Now uses rodRefSeq in its new reincarnation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1698 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 18:19:36 +00:00
asivache bf7cd66d53 New, simpler rodRefSeq. Fully relies on the ROD system standard mechanisms. Multiple transcripts over a given location will be now returned by the ROD system itself as RodRecordList<rodRefSeq>; and yes, rodRefSeq does represent a single transcript record now and implements Transcript interface 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1697 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 18:18:25 +00:00
asivache 8fa4c93f5a Transcript is now simply an interface 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1696 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 18:13:31 +00:00
asivache fe36289e44 Noone needs this, probably... Old experimental code. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1695 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 18:11:50 +00:00
asivache 1bd4c0077c Now that ROD system supports overlapping RODs, we do not need rodRefSeq to be too smart and read in all the overlapping records (transcripts) on its own; leave it to the generic ROD mechanism. 
PARTIAL commit; new, simpler rodRefSeq will reappear in a seq.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1694 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 18:11:16 +00:00
sjia aa66074a0e Compares each read to the HLA dictionary and outputs closest allele, as well as other stats 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1693 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-23 16:17:23 +00:00
aaron 11c32b588f fixing VariantEvalWalkerIntegrationTest md5 sums, a couple comment changes, and a little bit of cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1690 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 20:54:47 +00:00
ebanks b0fa19a0b2 Fixed recal integration test 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1689 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 20:22:32 +00:00
ebanks 0748d80baa Added a convenience method in rodDbSNP to deal with Andrey's changes to the rod. Now you can just ask for the first real SNP rod from the list and not have to think about how it works. 
CountCovariates uses it.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1688 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 20:15:40 +00:00
ebanks 6780476fb5 updated to deal with new dbSNP rod 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1687 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 19:46:32 +00:00
hanna 14477bb48e Unidirectional alignments with mismatches now working. Significant refactoring will be required. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1686 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 19:05:10 +00:00
sjia 22932042ea Combined Scores, bug fixed for printing HLA-C 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1685 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 18:28:16 +00:00
ebanks 682b765536 bug: need to upper case chars so that == works throughout 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1684 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 18:20:43 +00:00
asivache d7d0b270d1 now supports blacklisting lanes (with -BL option will ignore reads from any of the specified lanes) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1682 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 16:46:57 +00:00
asivache 57d31b8e9b Filter that discards reads from specific lanes; and also its friend that helps blacklisting a set of lanes from GATK command line a one-liner. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1681 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 16:46:06 +00:00
aaron 83a9eebcc4 fixed a bug I checked in that Eric found, for intervals with no start or stop coordinate. Now I owe Eric a cookie, and Milk Street is so far away. Damn. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1679 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 04:34:18 +00:00
ebanks 5ce42cbab3 After thinking about this a bit more, it makes sense to pull this functionality out of my walker and into the GenomeLocParser where everyone else can benefit from it... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1677 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-22 01:32:35 +00:00
aaron 7bfb5fad27 fixing the dbSNP test. Also removing unnessasary comments from the GenomeLocParser, added some tests, and commented out the performance test 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1676 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 23:32:24 +00:00
aaron 39a47491a9 changes to make GenomeLoc string parsing 25% faster 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1675 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 22:37:47 +00:00
ebanks b1dc6d65e4 interval merging is now blazingly fast 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1674 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 21:15:04 +00:00
asivache 15135788ca OK, let's bite the bullet. Now rodDbSNP objects are 'isSNP()' only when they are annotated as 'exact', not a 'range'. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1673 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 19:25:16 +00:00
asivache 8ad181f46f Note to myself: do 'ant clean' now and then or old versions of the code that suddenly became invalid will stick around. The world is not perfect, and neither is automatic dependency resolution. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1672 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 17:40:52 +00:00
asivache fb09835ef8 Changed to accomodate new ROD system 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1671 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 17:10:56 +00:00
asivache d2d1354199 Now uses BrokenRODSimulator class to pass the test. CHANGE the code to use new ROD system directly and MODIFY MD5 in corresponding tests, since a few snps are seen differently now. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1670 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 17:03:49 +00:00
asivache f4d270cba4 These classes now use BrokenRODSimulator class to pass the test. CHANGE the code to use new ROD system directly and MODIFY MD5 in corresponding tests, since a few snps are seen differently now. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1669 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 17:03:15 +00:00
asivache 29adc0ca1c Little class that can be used to simulate the results returned by the old ROD system. This is needed to keep couple of tests from breaking. All the code that uses this class must be changed urgently to accomodate the data as returned by new ROD system, and the corresponding tests (MD5 sums) have to be modified as well since some data as seen through the new ROD system is indeed different. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1668 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 16:58:56 +00:00
asivache a6bd509593 Changing the carpet under your feet!! New incremental update to th eROD system has arrived. 
all the updated classes now make use of new SeekableRodIterator instead of RODIterator. RODIterator class deleted. This batch makes only trivial updates to tests dictated by the change in the ROD system interface. Few less trivial updates to follow. This is a partial commit; a few walkers also still need to be updated, hold on...

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1667 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 16:55:22 +00:00
asivache 4c67a49ccb Removed unused imports 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1666 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 16:45:22 +00:00
hanna e7f44ada98 Make unpackList public static so that Doug can use it in the scatter/gather framework. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1665 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 15:32:49 +00:00
ebanks 7b627fd622 Check for empty interval lists to merge 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1664 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-21 04:34:26 +00:00
hanna 7f5778c966 Update gsadevelopers -> gsahelp. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1663 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-20 23:36:54 +00:00
aaron 3a487dd64e little fixes; also fixed a tyPo 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1662 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 22:38:51 +00:00
aaron b6d7d6acc6 fix for the eval tests, and a change to the backedbygenotypes interface, more changes to come 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1661 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 22:25:16 +00:00
depristo 4318f75910 tiny cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1660 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 21:04:25 +00:00
depristo 3a341b2f06 Fixes for VariantEval for genotyping mode 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1659 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 21:01:43 +00:00
aaron 7b39aa4966 Adding the VCF ROD. Also changed the VCF objects to much more user friendly. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1658 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 20:19:34 +00:00
sjia 83e6e5a3e4 Calculates Probability for each allele combination (using likelihood score and allele frequencies only) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1656 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 18:46:38 +00:00
ebanks b19fd4d45c Damn unit tests have a null Toolkit()... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1654 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 17:10:49 +00:00
ebanks 90626c843d oops - we don't need reference bases, but we still need reference 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1653 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 16:24:45 +00:00
ebanks 2b2df4e1ba - Fix the CleanedReadInjector to deal with -L intervals correctly. 
- Some walkers don't use the ref base, so speed up traversals by not requiring it


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1652 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 16:17:58 +00:00
ebanks 7da9ff2a9e Put back the check that both chip and variant are not null. 
Also, sanity check that ref is not 'N'.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1651 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 16:03:54 +00:00
asivache 94618044e8 Starting an update of ROD system. These basic classes will completely replace old ones, but with this update they are not linked to anything, so this checkpoint should be safe. 
The main reason for the change is that there can be (and are!) multiple RODs overlapping with a single reference base position in a single track. There can be two "trivial" RODs at the same location (e.g. samtools pileup will have two point-like records at putative indel sites: one for the reference, the other one for the indel itself). Or there can be one or more "extended" RODs (length >1), eg. dbSNP can report an indel at Z:510-525 AND a SNP at Z:515.

The ReferenceOrderedDatum object (and children) will not be changed, but it is now explicitly interpreted as a single data *record*, possibly out of many available from a given track for the current site. As long as single data record occupies one line in a data file, the new ROD system will take care of loading and keeping multiple records, including extended (length > 1) ones, and will automatically drop the records when they finally go out of scope. For one-line-per-record, multiple-records-per-site RODs, there is no need anymore for the hack used so far that involved passing ROD's own implementation of iterator through reflection mechanism (though it will still work)

* RODRecordList: 
the ROD system (its iterators) will now always return a LIST of all RODs available at current position or at current query interval (see below). This class is a trivial wrapper for a list of ROD objects, with added location argument for the whole collection. The location of the RODRecordList is where the ROD system is currently sitting at: a single, current base on the reference (if next() traversal is performed), or the location of the query interval when returned by seekForward() (see below). The ROD objects themselves will have their locations set according to the original data in the file. Hence, perusing the above example of a dbSNP indel at Z:510-525 and SNP at Z:515, when moving to the position Z:515 the ROD system will return a RODRecorList with location Z:515, and with two ROD objects packaged inside, one with location Z:510-525, the other with Z:515.

*RODRecodIterator:
Almost identical to old SimpleRODIterator used by ReferenceOrderedData; this is a low-level iterator that walks over records in the data file (with a callback to ROD's ::parseLine() to parse real data)

*SeekableRODIterator:
a decorator class that wraps around Iterator<ROD> (such as RODRecordIterator) and makes the data traversable by reference position, rather than record by record. This is reimplementation of the old RODIterator.  SeekableRODIterator's ::next() moves to the next position on the ref and returns all RODs overlapping with that position (as a RODRecordList). This iterator also adds a seekForward(loc) operation, that allows fast forwarding to a specified position or interval. Length > 1 query arguments (extended intervals) are fully supported by seekForward(), the returned RODRecordList wil contain all RODs overlapping with the specified interval, and the location of the returned RODRecordList object will be set to that query interval. NOTE: it is ILLEGAL to perform next() after a seekForward() query with length > 1 interval. seekForward() with point-like (length=1) interval reenables next().


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1650 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 15:58:37 +00:00
ebanks 66a4de9a1d Genotype check should be case-insensitive 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1649 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-18 03:23:30 +00:00
hanna c186a49d55 Time for a reorganization. Repackage generally useful alignment classes lower in the package structure, and create a subpackage for bwa-specific code. Repackage BWA alignment code away from BWT representation. Isolate byte- and word-packing streams in another package that will ultimately be killed off en masse. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1648 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-17 23:28:47 +00:00
hanna b4df089b59 Putting some of the required data structures together for imperfect lookup. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1647 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-17 22:43:11 +00:00
hanna 355136928e Play nice with other jobs in this VM -- don't close stdout / stderr. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1646 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-17 18:55:08 +00:00
sjia 0e73b2ba8e Use population allele frequencies to distinguish between top candidates 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1645 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-17 15:49:19 +00:00
chartl 534486a254 Output formatting changed: 
- summary output now reported as a percentage rather than proportion; 2 sigfigs
  - fixed minor bug where FNR was calculated over total calls rather than total variant sites
  - column headers are_now_contiguous_strings
  - spacing fixed
  - "No Call" separated from "Ref Call" as its own column




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1644 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-17 14:00:25 +00:00
depristo 73bec6f36d Now uses expanding array list for coverage histograms. No hard limit on maximum depth now 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1643 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 23:27:25 +00:00
chartl 4ad46590a3 Changes to PooledGenotypeConcordance: 
Additional output & better output formatting. It has now undergone a good five hours of testing; and for pools of size 1 outputs exactly the same statistics as GenotypeConcordance (when GenotypeConcordance is modified to do nothing on reference='N'); and for pools of many sizes outputs close to the expected (by genetics) statistics. Looks like this is working properly.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1642 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 21:45:01 +00:00
chartl 386a6442ba Actually deleted now. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1641 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 20:28:06 +00:00
chartl 8fce376792 Changes: 
Deletion: PooledGenotypeConcordanceNew

Rewrite: PooledGenotypeConcordance. It works, and is blazing fast compared to the earlier version (1 order of magnitude speedup)! And is now entirely non-hackey, as opposed to before when there were some hacky bits.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1640 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 20:22:16 +00:00
asivache 3e289fcaa4 A little piece that PairMaker needs in order to compile ;) 
Iterates synchronously over two (name-ordered) single-end alignment SAM files with, possibly, multiple alignments per read and for each read name encountered returns pairs<all alignments for end1, all alignments for end2>

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1639 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 19:17:40 +00:00
asivache 2f29cf59ba Very early, half-baked version. All it can do right now is to take two SAM files with end1 and end2 individual single-end alignmnets from a pair-end run and spit out a "paired" BAM file that contains ONLY properly paired ends (both ends align uniquely && both ends align to the same chromosome && the ends align in proper orientation). Insert size is currently not used (and not set in the output). Unpaired/unmapped reads are NOT transferred into the output bam. For the pairs that do get written, the output is (should be) standard-conforming: all flags are properly set and mate pair information is correct. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1637 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 18:38:18 +00:00
ebanks 5d85bd9671 By default, VF should ask for deleted bases so that they show up in coverage. 
The Strand filter then needs to ignore those bases when determining bias.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1636 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 16:46:09 +00:00
ebanks a7c306f757 -deal with offsets that can be -1 
-added option to have "D"s inserted for deleted bases in pileup strings


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1635 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 16:44:57 +00:00
hanna 01a9b1c63b Fix for problem where err stream remapped to output stream in certain cases, (hopefully) completing Matt's hat trick of fail. Thanks, unit tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1634 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 08:33:56 +00:00
aaron eedf55e94d temp fix for a broken test, we'll fix the test tomorrow. We promise, we're engineers, we love our tests. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1633 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 04:36:42 +00:00
chartl f6bdb47bb6 Addition: 
@PooledGenotypeConcordanceNew - a new version of the pooled genotype concordance test for Variant Eval. Code altered to be more extensible, use a private class for handling the count tables so it doesn't gunk up the code in the test itself, and for easy debugging. The hackier methods from the original were rewritten properly. Currently computes more statistics that it outputs. Code compiles, is never called by anything, and breaks none of the tests.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1632 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-16 04:14:58 +00:00
aaron 542d817688 more cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1631 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-15 21:42:03 +00:00
hanna 9f7cf73411 Output stream management fixes. I completely screwed up the output stream management system, but cleverly masked this fact by breaking some other stream management functionality that masked the problem. 
Sigh.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1630 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-15 21:06:45 +00:00
hanna 17758b381c Properly initialize redirected output streams in case of out and err. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1629 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-15 19:47:43 +00:00
andrewk 00dfe014b7 Added option to FastaReferenceWalker to change output FASTA file format's line width and to remove header lines; allows dumping raw sequence using intervals 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1628 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-15 18:00:30 +00:00
hanna b69eb208a6 Always create output files, even if no output was written to them. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1627 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-15 17:58:14 +00:00
aaron b401929e41 incremental clean-up and changes for VariantEval, moved DiploidGenotype to a better home, and fixed a spelling error. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1624 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-15 04:48:42 +00:00
ebanks 6783fda42a Updated unit test to reflect changes to vcf output 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1623 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-15 01:56:08 +00:00
andrewk fb254759cb Trivial: Don't print reduce result 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1621 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-14 23:42:20 +00:00
hanna 118071cfd8 Proof-of-concept perfect read aligner, implemented as described in sec 2.4 of BWA paper. Has successfully aligned a handful of reads. Requires significant cleanup and refactoring. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1617 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-14 21:54:56 +00:00
ebanks 01e7b39c8d 1. Don't print out values in filter field of the VCF. 
2. Fix ratio printouts (for params file)
3. Rename ratio filter's get counts method to avoid confusion; more changes on the way this week.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1616 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-14 21:03:39 +00:00
ebanks 436f543b3b I owe Doug a beer for finding this: 
don't print out intervals to be merged if they're not within the global -L intervals


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1615 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-14 20:22:30 +00:00
chartl 7d6d114ab5 Additions: 
@NQSMismatchCovariantWalker - Walks along the gene calculating the table     
    # NQS
    # Q score
    # mismatches at non-dbsnp sites
    # total number of bases at non-dbsnp sites

And prints it out at the end.

Changes:

@PooledGenotypeConcordance now works. Takes a path to a file listing a bunch of hapmap IDs in whatever pool we want to check, reads those in, and checks for concordance by name.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1614 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-14 20:12:04 +00:00
sjia 9be1832d7b Phasing version 1 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1613 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-14 16:10:37 +00:00
asivache a009592662 the life in the magical kingdom of fully spec-conforming SAM files would be so... magical. For now, however, there are plenty of ways to end up with inconsistent SAM records. For instance, a SAM file with missing header will result in SAM records with ref. name set, but getReferenceIndex() returning null. This, in turn, was tripping isReadUnmapped(). The method is now fixed, so that it suffices to have *either* reference name *or* reference index set for the read to be considered mapped (the flag is still checked) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1612 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-14 16:04:19 +00:00
aaron e03fccb223 Changes to switch Variant Eval over to the new Variation system. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1611 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-14 05:34:33 +00:00
aaron 5b41ef5f70 rod DBSNP had a bug where the reference wasn't calculated correctly under certain conditions. Fixed getRefBasesFWD and getRefSnpFWD so that they were more in line with getAltBasesFWD and getAltSnpFWD. Also updated Variant Eval tests to reflect this change. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1609 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-13 23:48:58 +00:00
chartl 5cf1d6c104 Bugfix - this walker was never changed to work with the new PoolUtils methods after those methods were changed to return ReadOffsetQuad objects rather than nested pairs. This broke the build :(. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1608 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-13 19:39:23 +00:00
ebanks c669e8d5ad Use constant seed in the random generator so we can be stable (and thus unit tests will work) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1607 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-13 17:40:56 +00:00
ebanks 15178977e1 Naive tool to convert from vcf to geli text 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1606 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-13 17:25:02 +00:00
chartl 794bd26b20 Changed some ShortNames so they made more sense. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1604 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-13 01:32:12 +00:00
chartl b353bd6f81 Added a Quad toString() method. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1603 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-13 01:13:57 +00:00
chartl 2e237a12e9 This commit has a bunch to do with cleaning up the CoverageAndPowerWalker code: implementing some new printing options, 
but mostly altering the code so it's much more readable and understandable, and much less hacky-looking.

ADDED:

@Quad: This is just like Pair, except with four fields. In the original CoverageAndPowerWalker I often used
       a pair of pairs to hold things, which made the code nigh unreadable.

@SQuad: An extension of Quad for when you want to store objects of the same type. Let's you simply declare
       new SQuad<X> rather than new Quad<X,X,X,X>

@ReadOffsetQuad: An extension of Quad specifically for holding two lists of reads and two lists of offsets
                 Supports construction from AlignmentContexts and conversion to AlignmentContexts (given
                 a GenomeLoc). There are methods that make it very clear what the code is doing (getSecondRead()
                 rather than the cryptic getThird() )

@PowerAndCoverageWalker: The new version of CoverageAndPowerWalker. If the tests all go well, then I'll remove
                         the old version. New to this version is the ability to give an output file directly
                         to the walker, so that locus information prints to the file, while the final reduce
                         prints to standard out. Bootstrap iterations are now a command line argument rather
                         than a final int; and users can instruct the walker to print out the coverage/power
                         statistics for both the original reads, and those reads whose quality score exceeds
                         a user-defined threshold.

CHANGES:

@PoolUtils: Altered methods to accept as argumetns, and return, Quad objects. Added a random partition method
            for bootstrapping.

@CoverageAndPowerWalker: Altered methods to work with the new PoolUtils methods.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1602 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-13 01:00:04 +00:00
depristo 6c7a300664 Missing file 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1601 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-12 19:17:09 +00:00
depristo 6e13a36059 Framework for ROD walkers -- totally experiment and not working right now 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1600 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-12 19:13:15 +00:00
depristo bd75a8d168 Unused code has been removed 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1599 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-12 19:12:23 +00:00
depristo e8d544869d Alignment context now supports the idea of skipped bases -- not currently in use 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1598 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-12 19:11:38 +00:00
depristo 3ad97e4ab4 Easier to print GenomeLoc compareTo() 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1597 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-12 19:10:35 +00:00
depristo 3949b4ac72 commented out version of next() and hasNext() that appear to be correct but are causing testing problems 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1596 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-12 19:09:21 +00:00
depristo 58105636c8 getBoundRods() convenience method 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1595 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-12 19:07:57 +00:00
depristo 4e1eded389 Fixed bad compareTo operator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1594 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-12 19:07:10 +00:00
depristo 17ab1d8b25 General purpose merging iterator implementation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1593 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-12 19:06:15 +00:00
hanna 275707f5f6 Data structure for counts, to isolate the user from wonky 'sometimes counts are cumulative, other times base-by-base' gotchas. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1592 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-11 20:53:24 +00:00
depristo 7c8b17b456 fix for SSG with pl name 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1591 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-11 20:39:34 +00:00
andrewk 5354c1876c De Novo SNP caller as presented at 1KG meeting on 9/10/09 with min LOD 5 calls required from both parents and a LOD 5 call in the daugter gold standard concordant call set. All SNP calls must be present as bound RODs. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1590 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-11 19:30:23 +00:00
hanna 0f3049652a Start to build BWT abstractions, so we can present a reasonable facsimile of the BWT to the user no matter how it's represented on disk. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1589 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-11 18:23:15 +00:00
chartl c3f77acd5e Alteration to CoverageAndPowerWalker. It can now be flagged with -uc which will cause it to print not only the coverage on each strand that exceeds the quality score threshold, but also the total coverage on each strand as well. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1588 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-11 17:55:44 +00:00
chartl d6a0b65ac9 Changes: 
Rollback of Variant-related changes of r1585, additional PGC code




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1586 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-11 16:23:01 +00:00
chartl 0c54aba92a Changes: 
@VariantEvalWalker - added a command line option to input a file path to a pooled call file for pooled genotype concordance checking. This string is to be passed to the PooledGenotypeConcordance object.

@AllelicVariant - added a method isPooled() to distinguish pooled AllelicVariants from unpooled ones.

@ all the rest - implemented isPooled(); for everything other than PooledEMSNProd it simply returns false, for PooledEMSNProd it returns true.

Added:

@PooledGenotypeConcordance - takes in a filepath to a pool file with the names of hapmap individuals for concordance checking with pooled calls
 and does said concordance checking over all pools. Commented out as all the methods are as yet unwritten.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1585 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-11 15:01:50 +00:00
ebanks e24c8d00d5 So, the VCF spec allows for an optional meta field in the header representing the date. However, using this field means that integration tests run on the vcf file will fail the MD5 test (which is what happened to the VariantFiltration test this morning after working just fine yesterday). 
After consulting our resident expert (Aaron), we're going to (temporarily) remove the date from the vcf output until we can come up with a better solution.  However, this shouldn't cause any short-term problems because the data truly is optional.
VF test's MD5s are updated.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1580 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-10 14:28:43 +00:00
aaron 296878e8e3 adding a basic implementation of the Variation interface. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1578 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-10 04:41:13 +00:00
aaron 5a64a80ab5 changes to the variation class, updates to SSG, updated tests based on changes to the SSGenotypeCall, and added the ability to run a single integration test from using the build script. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1577 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-10 04:31:33 +00:00
depristo c988205884 Notes for Aaron in SSG 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1576 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-10 03:18:51 +00:00
ebanks 1362a56227 Added fasta tests and small fix to cleaner test 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1575 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-10 03:13:11 +00:00
ebanks 8ca89279aa Added a test for VariantFiltration and the VECs 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1574 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-10 02:21:14 +00:00
hanna 6de54dcd2a Higher-level readers and writers for BWTs and suffix arrays. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1573 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 22:45:32 +00:00
depristo 0093482c62 N reference base fix for SSG 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1572 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 21:19:36 +00:00
hanna bc9fe31cf5 Cleanup of int-packed file readers / writers. All primitive writers for BWTs and SAs are in place; time to move on to compound reader / writers. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1571 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 20:36:39 +00:00
asivache d9f3e9493f Does not return 0-length cigar elements anymore (used to do so when previous cigar element ended exactly at the segment boundary) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1570 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 20:05:55 +00:00
ebanks cb31d5a0ab VariantFiltration now outputs VCF. Important changes: 
1. VariantsToVCF can now be called statically to output VCF for a single ROD instance; this is temporary until we have a VCF ROD.
2. VariantFiltration now outputs only 2 files, both mandatory: all variants that pass filters in geli text, and all variants in VCF.
If there are any problems, go find Aaron.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1569 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 20:04:32 +00:00
asivache dd0085c428 1) now is tolerant to sloppy cigar strings with 0-length elements (at the price of extra recursive call) 
2) when reads with deletions are requested, adds to the pile just those: reads with 'D' over the current reference base, but not 'N'
3) next() now implements a loop: recursive forward iteration calls to next() until ref. position with non-zero coverage is encountered were OK for (short) deletions, but with long stretches of N's they end up with stack overflow

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1568 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 20:04:04 +00:00
ebanks 542af6402e output correct format for Sequenom SNPs 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1567 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 19:21:53 +00:00
hanna 43d1c6741c Cleanup. Separate common packing functionality into utils class. Make base packing utility as generic as possible. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1566 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 17:54:12 +00:00
kiran 3b1e966b4c Lowercases the sequencing platform so that a difference in case doesn't lead to the failure to look up an entry in the hash. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1565 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 17:35:45 +00:00
kiran d82d6c0665 Excludes variants that fall below a certain LOD that changes as a function of depth. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1564 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 17:34:16 +00:00
kiran 06eae52292 Throws an exception if you attempt to use a filter that doesn't exist. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1563 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 17:33:27 +00:00
asivache 1060b36288 Bug fix: 'N' cigar elements now treated properly; for all practical intents and purposes, N is the same as D and should be treated as such, the difference is only in logical interpretation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1562 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 17:08:35 +00:00
ebanks bed646e4f6 Adding cleaner test 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1561 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 16:05:56 +00:00
chartl 9c7f456510 Changed the short name on the PoolSize cmd line argument 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1560 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 15:53:22 +00:00
chartl 9d69bd2c84 Modifications: 
@CoverageAndPowerWalker - removed a hanging colon that was being printed after the reference position

@VariantEvalWalker - added a command line argument for pool size for eventual use in doing pooled caller evaluations. As now, the variable is unused.

@AlignmentContext - altered the scope of class variables from private to protected in order that child objects might have access to them


New Additions:

Filtered Contexts

Sometimes we want to filter or partition reads by some aspect (quality score, read direction, current base, whatever) and use only those reads as
part of the alignment context. Prior to this I've been doing the split externally and creating a new AlignmentContext object. This new approach makes
it a bit easier, as each of these objects are children of AlignmentContext, and can be instantiated from a "raw" AlignmentContext.

@FilteredAlignmentContext is an abstract class that defines the behavior. The abstract method 'filter' is called on the input AlignmentContext, filtering
those reads and offsets by whatever you can think of. The filtered reads/offsets are then maintained in the reads and offsets fields. These classes can
be passed around as AlignmentContexts themselves. Writing a new kind of read-filtered alignment context boils down to implementing the filter method.

@ReverseReadsContext - a FilteredAlignmentContext that takes only reads in the reverse direction

@ForwardReadsContext - a FilteredAlignmentContext that takes only reads in the forward direction

@QualityScoreThresholdContext - a FilteredAlignmentContext that takes only reads above a given quality score threshold (defaults to 22 if none provided).

A unit test bamfile and associated unit tests for these are in the works.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1559 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 15:49:52 +00:00
depristo d9588e6083 bug fixes to LIBS and LIBH following ultra-aggressive regression testing across 454, solid, and solexa 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1558 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 15:36:12 +00:00
asivache 0721c450c2 Bug fix: single unmapped read now keeps mapping qual 0 after remapping, not 37! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1557 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 15:29:34 +00:00
asivache df11618092 Set default value of useLocusIteratorByHanger to FALSE. Otherwise the -LIBH flag is useless and there'd be no wayto "unset" the 'true' value. Old version was (always) using LocusIteratorByHanger. Now default iterator is indeed LocusIteratorByState, and -LIBH will switch back to the old one 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1556 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 15:09:09 +00:00
aaron 0df6a9da5c -Seperating out normal (unit) tests and integration tests. From now on if your test are more of an integration test (i.e. you're testing a walker and all the subunits it relies on) please name the test "______IntegrationTest.java" instead of "______Test.java". 
-Bamboo will now run the integration tests once a day, and the normal units tests on each check-in.

-Also added a bunch of unit tests for VariantEval walker

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1555 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 15:01:40 +00:00
depristo eeb9b6eb13 GenotypeLikelhoods now support a cache per subclass, avoiding genotyping clashes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1554 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 10:39:14 +00:00
ebanks 0cc219c0df -Added unit test for walkers dealing with intervals for cleaning 
-I also uncovered a corner case in the cleaner that for some reason was commented out but shouldn't have been.  Hooray for unit tests!



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1553 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 02:35:17 +00:00
depristo ec0f6f23c7 LocusIterationByState is now the system deafult. Fixed Aaron's build problem 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1552 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 01:28:05 +00:00
aaron ea6ffd3796 initial VariantEvalWalker test. More to be added soon... 
Also fixed the case where MD5 sums had leading zero's clipped off

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1551 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-09 01:02:04 +00:00
hanna adce3bd536 My reference implementation is now generating a BWT which matches BWT-SW's. 
Note to self: never give project status in an svn log.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1550 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-08 22:11:03 +00:00
hanna f22f590192 Successfully writing .sa files. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1549 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-08 17:34:34 +00:00
sjia 600c234643 Starting code on phasing 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1548 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-08 15:20:38 +00:00
aaron 3276e01e5f fixing the build 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1546 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-08 13:13:55 +00:00
kiran f963cfcb21 Made enum listing header fields public. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1545 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-08 06:12:59 +00:00
kiran fd20f5c2e8 For a file or files backed by a ROD implementing AllelicVariant, outputs a VCF file summarizing the information. Metadata like Hapmap and dbSNP membership, genotype LOD, read depth, etc, are annotated appropriately. The results output by this program are equivalent to those given by Gelis2PopSNPs.py. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1544 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-08 06:12:18 +00:00
ebanks 4a95f2181d print out the right variant 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1543 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-08 01:37:35 +00:00
sjia 5791da17ae Updated to reference HLA database of unique 4 digit alleles 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1542 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-07 22:12:56 +00:00
ebanks 5dbba6711c Lots of changes: (I'll send email out in a sec) 
1) Moved various disparate concordance / set splitting functionalities to a new parent tool which works like VariantFiltration (i.e. people can write various modules that fit inside and can be run though it).
2) Fixed up argument parsing in VariantFiltration to use key=value format so we don't accidentally mox up values (like I had been doing).
3) Have indel rod print samples


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1540 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-07 01:12:09 +00:00
depristo 1c3d67f0f3 Improvements to the CountCovariates and TableRecablirator, as well as regression tests for SLX and 454 data 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1539 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 22:26:57 +00:00
depristo 2b0d1c52b2 General WalkerTest framework. Includes some minor changes to GATK core to enable creation of true command-line like GATK modules in the code. Extensive first-pass tests for SSG 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1538 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 19:13:37 +00:00
sjia 471ca8201e git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1537 348d0f76-0448-11de-a6fe-93d51630548a 2009-09-04 19:12:46 +00:00
aaron 0cc634ed5d -Renamed rodVariants to RodGeliText 
-Remove KGenomesSNPROD
-Remove rodFLT
-Renamed rodGFF to RodGenotypeChipAsGFF
-Fixed a problem in SSGenotypeCall
-Added basic SSGenotype Test class
-Make VCFHeader constructors public

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1536 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 18:40:43 +00:00
ebanks fd1c72c151 Fixed package name 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1535 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 15:40:06 +00:00
ebanks 6c476514f8 Moved to core. Wiki pages are going up; unit tests will be written soon. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1533 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 15:09:11 +00:00
ebanks 42c71b4382 Fix for Kris: now SNPs aren't masked by default (only when they come from a mask rod) and we can design Sequenom validation assays for them. 
I'll move this all to core in a bit...


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1532 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 14:52:06 +00:00
ebanks 849dce799d This rod was all wrong for generating the alternate snp alleles (it returned null or even the wrong value); fixed. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1531 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 14:21:46 +00:00
depristo a08c68362e Renaming error to getNegLog10PError(); added Cached clearing method to GL; SSG now has a CallResult that counts calls; No more Adding class to System.out, now to logger.info; First major testing piece (and general approach too) to unit testing of a walker -- SingleSampleGenotyper now knows how many calls to make on a particular 1mb region on NA12878 for each call type and counts the number of calls *AND* the compares the geli MD5 sum to the expected one! 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1530 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 12:39:06 +00:00
aaron 3c2ae55859 changes for the genotype overhaul. Lots of changes focusing on the output side, from single sample genotyper to the output file formats like GLF and geli. Of note the genotype formats are still emitting posteriors as likelihoods; this is the way we've been doing it but it may change soon. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1529 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 05:31:15 +00:00
ebanks 2241173fff In order to help learn python, I decided to convert Michael's DoC python script to Java; the CoverageHistogram now spits out standard deviations for a good Gaussian fit. 
This code eventually needs to end up in the VariantFiltration system - when we are ready to parameterize on the fly.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1528 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-04 02:23:57 +00:00
chartl 544900aa99 Migration of some core calculations (log-likelihood probabilties, etc.) from CoverageAndPowerWalker into static methods in PoolUtils 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1527 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 21:43:29 +00:00
chartl 93cedf4285 --------------- 
| Added items |
---------------

@/varianteval/PoolAnalysis

Interface to identify variant analyses that are pool-specific.

@/varianteval/BasicPoolVariantAnalysis

Nearly the same as BasicVariantAnalysis with the addition of a protected integer (numIndividualsInPool)
which holds the pool size. One soulcrushing change is that "protected String filename" needed to
become "protected String[] filename" since now multiple truth files may be looked at. It was tempting
to make the change in BasicVariantAnalysis with some default methods that would maintain usability of
the remainder of the VariantAnalysis objects, but I decided to hold off. We can always merge these
together later.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1526 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 21:26:04 +00:00
sjia ee06c7f29f git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1525 348d0f76-0448-11de-a6fe-93d51630548a 2009-09-03 19:41:12 +00:00
sjia 043c97eede git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1524 348d0f76-0448-11de-a6fe-93d51630548a 2009-09-03 19:34:42 +00:00
aaron c849282e44 reverting the HLA walker changes 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1523 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 19:11:57 +00:00
asivache 5202d959bf NM attribute changed in sam jdk (?) from Integer to Short, or maybe it is presented differently by the reader depending on whether SAM or BAM is processed; in any case, both Integer and Short are safe now 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1522 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 19:03:32 +00:00
sjia ada4c5a13c Small change to debug printing code 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1521 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 18:31:21 +00:00
kiran c3aaca1262 Improvements to make this work with uncompressed fastq files. Pulled the fastq parser out into it's own SAMFileReader-like entity. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1520 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 17:20:16 +00:00
asivache 499b3536a4 Changed to use AlignmentUtils.isReadUnmapped() for better consistency with SAM spec; also, it is now explicitly enforced that unmapped reads have <NO_...> values set for ref contig and start upon "remapping" 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1519 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 16:45:07 +00:00
ebanks 5bd99fc1c4 VariantFiltration moved to core. 
Another win for the team.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1517 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 15:41:41 +00:00
chartl 5130ca9b94 git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1516 348d0f76-0448-11de-a6fe-93d51630548a 2009-09-03 15:17:02 +00:00
depristo bdd0a6f9fa change to make build work 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1511 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 13:43:10 +00:00
depristo b01ac9de0c High performance LocusIterator implementation. Now with greatly reduced memory impact and 2x (and more potentially) speed ups of raw locus iteration. General performance improvements to SSG with empirical probs. You can enable high-performance locus iteration with the -LIBS arg. It's still testing but passes validing pileup. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1510 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 03:06:25 +00:00
jmaguire e2780c17af Checkin of the Multi-Sample SNP caller. 
Doesn't work yet; same command I used to use now causes GATK to throw an exception.

Will check with Matt & Aaron tomorrow, then do a regression test.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1509 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-03 00:23:28 +00:00
hanna e2a79c5cd9 Checkpoint. The BWT that we generate now matches the first 16% of the BWT that BWT-SW generates. Cleaned up output streams to separate the byte packing / word packing from the data structure generation. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1508 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-02 22:18:17 +00:00
ebanks 3dfc77dc89 Add an indel rod which represents the initial point of the indel only 
(useful for alternate reference making)


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1507 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-02 19:32:29 +00:00
asivache 58debd7e56 A convenience shortcut isReadUnmapped() added: thanks to SAM format specification, 'read unmapped' flag is not always required to be set for an unmapped read; this method checks both the flag and the alignment reference index/start (if those are set to '*' the flag is not required according to the spec!) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1506 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-02 17:00:39 +00:00
aaron 0e6feff8f2 fixed locus pile-up limiting problem 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1505 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-02 16:56:44 +00:00
hanna d8aff9a925 Bug fixes. Was ignoring the '$' character in a few places where I shouldn't have been. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1504 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-02 16:27:31 +00:00
ebanks 55013eff78 Re-revert back to point estimation for now. We need to do this right, just not yet. 
Also, it's safer to let colt do the log factorial calculations for us. 


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1503 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-02 15:33:18 +00:00
hanna 1ada085970 Cruddy implementation of BWT creation, for understanding and testing purposes. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1501 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-02 02:16:56 +00:00
ebanks 24d809133d Oops - comment out the printouts 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1500 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-02 01:45:56 +00:00
ebanks 91ccb0f8c5 Revert to having these filters use integration over binomial probs 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1499 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-02 01:40:22 +00:00
aaron 05c164ec69 changing the default behavior to allow any sized read pile-up (which may exceed the memory limit); the user can then select their own read limit. The default of 100K was arbitrary. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1498 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-01 14:46:00 +00:00
ebanks 54c0b6c430 Allow this ROD to consist of just the positions 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1497 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-01 12:43:18 +00:00
aaron 4a1d79cd7b added a flag, maximum_reads_at_locus, shortName "mrl", which limits the number of reads we add to the locusByHanger. In some bam files misalignment produces pile-ups of 750K or more reads. We now limit this to the default of 100K reads. 
The user is warned if a locus exceeds this threshold, and no more reads are added.

Also CombineDup walker had an incorrect package name.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1496 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-01 04:21:58 +00:00
ebanks 0addae967a IndelArtifact filter can now handle filtering false SNPs that occur within the span of an indel but after the first position 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1495 348d0f76-0448-11de-a6fe-93d51630548a
 2009-09-01 03:34:39 +00:00
hanna 85ca68fab6 Initial version: creates a packed file from a fasta, suitable for consumption by BWT-SW. Works with E coli fasta, but will not work at this moment with multi-chr fastas. 
Will be made into a utility routine when BWA comes together.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1494 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-31 18:39:19 +00:00
asivache 591f8eedbb Added setName() and getName() (however, not used anywhere yet). Now can set the name of the fasta record manually to whatever, however it will work only if done early enough. If the fasta record already started printing itself (i.e. the header line is already done), setName() will throw an exception. Could be too entangled, may reverse this back... 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1493 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-31 18:09:55 +00:00
asivache c9eb193c7f Now recognizes a special name for a bound rod track: snpmask. If a rod with this name is bound, then ONLY snps from that track will be used (to set alt reference bases to N's), but indels will be ignored. This helps when an alt. ref has to be created for a set of indel calls, and another rod (e.g. dbSNP) is used to put N's in (for sequenom). If dbSNP rod is not marked as "snpmask", the indels reported there will make their way into the alt. reference output and mess it up. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1492 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-31 18:05:57 +00:00
ebanks 8e3c3324fa Added filter for SNPs cleaned out by the realigner. 
It uses the realigner output for filtering; in addition, dbsnp indels partially work; IndelGenotyper calls don't yet work.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1489 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-31 04:32:32 +00:00
ebanks 8bc7afe781 Smarter SW penalties 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1488 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-31 04:29:19 +00:00
ebanks 463f80c03e Require each filter or feature to declare whether or not they want mapping quality zero reads in the alignment context 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1487 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-31 03:37:24 +00:00
ebanks 1a299dd459 Require each filter or feature to declare whether or not they want mapping quality zero reads in the alignment context 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1486 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-31 03:31:37 +00:00
ebanks e70101febc Add a VEC filter for clustered SNP calls that takes advantage of the new windowed approach; delete the old standalone walker. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1485 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-31 03:14:42 +00:00
ebanks 215e908a11 Reworking of the VariantFiltration system to allow for a windowed view of variants and inclusion of more data to the various filters. 
This now allows us to incorporate both the clustered SNP filter and a SNP-near-indels filter, which otherwise wasn't possible.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1484 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-31 02:16:39 +00:00
depristo 813a4e838f Removing old code 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1482 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-30 19:27:11 +00:00
depristo 49a7babb2c Better organization of Genotype likelihood calculations. NewHotness is now just GenotypeLikelihoods. There are 1, 3, and empirical base error models available as subclasses, along with a simple way to make this (see the factory). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1481 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-30 19:16:30 +00:00
depristo 522e4a77ae Caching support across multiple technologies 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1480 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-30 18:10:14 +00:00
depristo 5af4bb628b Intermediate checking before code reorganization. Full blown support for empirical transition probs in SSG for all platforms. Support for defaultPlatform arg in SSG. Renaming classes for final cleanup 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1479 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-30 17:34:43 +00:00
depristo 6ab9ddf9f5 Significant output formatting improvements. SNPs as indels analysis. heterozygosity rate calculations 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1478 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-29 21:49:09 +00:00
depristo bde67428fd Better formatting of the code 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1477 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-29 21:46:47 +00:00
aaron 8331c195fb changed the full name of maximum_reads to maximum_iterations for consistancy 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1475 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-28 16:03:46 +00:00
depristo 8e129d76fd Support for original quality scores OQ flag. pQ flag in TableRecalibation to preserve quality scores below a threshold (defaulting to 5) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1474 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-28 14:14:21 +00:00
depristo f0179109fa Removing min confidence for on/off genotype 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1473 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-28 01:04:13 +00:00
depristo 4f7ed69242 toString() implemented 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1472 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-28 01:03:58 +00:00
depristo dc9d40eb9a Now requires a minimum genotype LOD before applying tests 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1471 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-28 00:19:23 +00:00
depristo 37a9b84276 corresponding test 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1470 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-28 00:17:42 +00:00
depristo bf60980653 Experitmental support for empirical P(B_true | B_miscall). --useEmpiricalTransitions flag to SSG enables this support. Much better implementation of Genotype likelihoods -- the system should scream along now. Continuing progress towards deleting old model 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1469 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-28 00:17:24 +00:00
depristo 7cf9a54b64 change for new char/byte in BaseUtils 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1467 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-27 23:47:56 +00:00
depristo a639459112 Trival consistency change from char in to char out, not char in to byte out 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1466 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-27 23:37:37 +00:00
chartl 6012f7602b @ minor fixes to CoverageAndPowerWalker and AnalyzePowerWalker (switching to By Reference traversal, spitting out Syzygy position for sanity check) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1465 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-27 21:44:18 +00:00
chartl bd1e679bc5 @ Fixed issues with AnalyzePowerWalker which depended on CoverageAndPowerWalker. The latter was changed but not the former. Now fixed 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1464 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-27 20:23:41 +00:00
kiran a17dad5fa9 Converts from fastq.gz to unaligned BAM format. Accepts a single fastq (for single-end run) or two fastqs (for paired-end run). Also allows you to set certain BAM metadata (read groups, etc.). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1463 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-27 20:20:09 +00:00
chartl 8740124cda @ListUtils - Bugfix in getQScoreOrderStatistic: method would attempt to access an empty list fed into it. Now it checks for null pointers and returns 0. 
@MathUtils - added a new method: cumBinomialProbLog which calculates a cumulant from any start point to any end point using the BinomProbabilityLog calculation.

@PoolUtils - added a new utility class specifically for items related to pooled sequencing. A major part of the power calculation is now to calculate powers
             independently by read direction. The only method in this class (currently) takes your reads and offsets, and splits them into two groups
             by read direction.

@CoverageAndPowerWalker - completely rewritten to split coverage, median qualities, and power by read direction. Makes use of cumBinomialProbLog rather than
                          doing that calculation within the object itself.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1462 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-27 19:31:53 +00:00
chartl 1da45cffb3 New: 
Minor changes to CoverageAndPowerWalker bootstrapping (faster selection of indeces).

Entirely new Aritifical Pool Walker (ArtificialPoolWalkerMk2), will likely replace ArtificialPoolWalker on the next commit. Adapted the method of sampling, and added a helper context class: ArtificialPoolContext which carries much of the burden of calculation and data handling for the walker. The walker itself maps and reduces ArtificialPoolContexts.

Cheers!






git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1461 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-26 21:42:35 +00:00
chartl 92ea947c33 Added binomProbabilityLog(int k, int n, double p) to MathUtils: 
binomialProbabilityLog uses a log-space calculation of the
       binomial pmf to avoid the coefficient blowing up and thus
       returning Infinity or NaN (or in some very strange cases
       -Infinity). The log calculation compares very well, it seems
       with our current method. It's in MathUtils but could stand
       testing against rigorous truth data before becoming standard.

Added median calculator functions to ListUtils

getQScoreMedian is a new utility I wrote that given reads and
       offsets will find the median Q score. While I was at it, I wrote
       a similar method, getMedian, which will return the median of any
       list of Comparables, independent of initial order. These are in
       ListUtils.

Added a new poolseq directory and three walkers

CoverageAndPowerWalker is built on top of the PrintCoverage walker
       and prints out the power to detect a mutant allele in a pool of
       2*(number of individuals in the pool) alleles. It can be flagged
       either to do this by boostrapping, or by pure math with a
       probability of error based on the median Q-score. This walker
       compiles, runs, and gives quite reasonable outputs that compare
       visually well to the power calculation computed by Syzygy.

ArtificialPoolWalker is designed to take multiple single-sample
       .bam files and create a (random) artificial pool. The coverage of
       that pool is a user-defined proportion of the total coverage over
       all of the input files. The output is not only a new .bam file,
       but also an auxiliary file that has for each locus, the genotype
       of the individuals, the confidence of that call, and that person's
       representation in the artificial pool .bam at that locus. This
       walker compiles and, uhh, looks pretty. Needs some testing.

AnalyzePowerWalker extends CoverageAndPowerWalker so that it can read previous power
calcuations (e.g. from Syzygy) and print them to the output file as well for direct
downstream comparisons.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1460 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-25 21:27:50 +00:00
kiran 478f426727 Fixed a missing method implementation in these two files. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1459 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-25 21:21:58 +00:00
kiran f12ea3a27e Added ability for all filters to return a probability for a given variant - interpreted as the probability that the given variant should be included in the final set. The joint probability of all the filters is computed to determine whether a variant should stay or go. At the moment, this is only visible in verbose mode (specify -V). Also removed 'learning mode'; now, filters emit important stats no matter what. Various code cleanups. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1458 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-25 21:17:56 +00:00
hanna e5115409fa Force columnSpacing to be at least one. We need a general-purpose, working tool for outputting columnar data to a PrintStream; will add JIRA. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1457 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-25 19:54:54 +00:00
aaron 811503d67b vcf changes from Richards comments, fixed a test case 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1456 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-25 14:32:16 +00:00
hanna ccdb4a0313 General-purpose management of output streams. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1454 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-23 00:56:02 +00:00
aaron b316abd20f catch a malformed column header name more gracefully 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1453 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-21 21:05:28 +00:00
aaron 0364f8e989 added the ability of the VCFReader to take in compressed gzipped files natively, which is really useful for the validator 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1452 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-21 18:40:38 +00:00
aaron 647a367680 Made the size zero interval file checker emit a warnUser if we're not in unsafe mode. 
Also changed the default logger level from error to warn.  Does anyone object?  It makes sense for users to always get their warn user statements in the default logging level.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1451 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-21 14:40:57 +00:00
aaron df9133c90b the doc on File.length states it returns 0L if it doesn't exist, added a check to make sure it exists (and length < 1) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1450 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-21 05:55:17 +00:00
aaron cd711d7697 Added detection of interval files with zero length to the GATK, and removed it from the interval merger walker: this was a critical blocking emergency issue for Eric. 
also fixed some verbage in the GAEngine.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1449 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-21 05:35:49 +00:00
asivache 0bdecd8651 A most stupid bug. In cases when more than one indel variant was present in cleaned bam file, the "consensus" (max. # of occurences) call was computed incorrectly, and most of the times the call itself was not made at all. Fortunately, the locations where we see multiple indels are a minority, and many of them are suspicious anyway (manifestation of alignment problems?). Could change results of POOLED calls though. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1448 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-20 22:31:44 +00:00
aaron 6313c465fb we want the RMS of the reads qualities not the RMS of the RMS of the read qualities. 
Also the VCF version tag seems to be standardized as VCR.  Updated the VCF code.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1447 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-20 21:56:29 +00:00
kcibul 6c0adc9145 resuse fasta file reader 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1446 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-20 16:01:58 +00:00
aaron 0386e110cf some documentation changes, add a couple of simple checks 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1445 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-20 05:20:27 +00:00
ebanks 10c98c418b Walker to determine the concordance of 2 genotype call sets. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1443 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-20 01:32:44 +00:00
ebanks 1d74143ef4 A convenience argument - for Mark - so that you don't have to specify all the output file names 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1442 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-20 00:49:12 +00:00
aaron 5725de56dc fixes in VCF, some changes to get it ready to move out of the GATK 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1441 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-19 23:31:03 +00:00
aaron 0b927f44fa created a better seperation between instantiation of an VCF object and the object itself 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1440 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-19 20:32:50 +00:00
ebanks ed8c92a12a make isReference do the right thing 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1439 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-19 20:32:29 +00:00
hanna 21091b9839 Fix for invalid format error when outputting BAM files. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1438 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-19 19:42:39 +00:00
aaron 4cf9110468 Adding a lot of changes to the VCF code, plus a new basic validator. Also removing an extra copy of the Artificial SAM generator that got checked in at some point. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1437 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-19 05:08:28 +00:00
ebanks b3fe566c0c Fix descriptions of walker args 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1436 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-18 19:46:48 +00:00
ebanks 82e2b7017e Prevent array bounds errors 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1435 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-18 16:54:31 +00:00
ebanks 26a6f816c9 set default value for output format 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1434 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-18 16:17:09 +00:00
ebanks 53153fcd79 Allow RODs to specify that incomplete records are okay (i.e. that they allow optional fields) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1433 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-18 15:26:10 +00:00
ebanks 9b1d7921e8 added filter based on concordance to another call set 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1432 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-18 15:16:30 +00:00
ebanks b2a18a9d61 - first pass at a basic indel filter (for now, based on size and homopolymer runs) 
- fix simple indel rod printout


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1431 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-18 03:04:12 +00:00
ebanks 78439f7305 Modify Sequenom input format based on official documentation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1430 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-18 01:42:57 +00:00
aaron 63d90702d6 another iteration of the VCFReader and VCFRecord, introducing the VCFWriter 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1429 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-17 22:17:34 +00:00
jmaguire 1e8b97b560 quietly skip empty intervals files rather than crash. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1428 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-17 20:19:14 +00:00
jmaguire 92c63fb530 It's just "lod" not discovery_lod now. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1427 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-17 18:44:09 +00:00
ebanks df5744bcd3 update this walker so any variants can be passed in 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1426 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-17 16:30:39 +00:00
aaron 8403618846 the start to the VCF implementation 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1425 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-17 04:34:15 +00:00
ebanks d4808433a1 Added option to output the locations of indels in the alternate reference 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1424 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-16 03:46:36 +00:00
ebanks 4b6ddc55bd Merge our 2 fastq writers into 1: incorporate Kiran's secondary-base file writer into the fasta/fastq writers 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1423 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-14 20:55:23 +00:00
ebanks 0ec581080c Refactoring the code; also, now it prints continuously instead of potentially storing one long string. 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1421 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-13 01:32:46 +00:00
asivache 2a01e71277 A very simple standalone filter for fooling around with the data: can extract only mapped or only unmapped reads, only reads with mapping quals > X, reads with average base qual > Y, reads with min base qual > Z, reads with edit distance from the ref > MIN and/or < MAX 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1420 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-12 20:28:51 +00:00
asivache ebec0ec171 A standalone companion to BamToFastqWalker: does the same thing but without calling in gatk's heavy artillery (does not "require" a reference either). Extracts seqs and quals and places them into fastq; along the way it also reverse complements reads that align to the negative strand (so that fastq contains reads as they come from the machine). 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1419 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-12 20:24:37 +00:00
asivache 112a283f54 be nice, don't forget to close the reader when done 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1418 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-12 20:19:56 +00:00
asivache ba2a3d8a58 Reverse qualities when read seq. is reverse complemented 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1417 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-12 20:17:35 +00:00
asivache 144b424933 Added : String reverse(String s) - reverses a string 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1416 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-12 20:16:22 +00:00
ebanks 143f8eea4e option to output in sequenom input format 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1415 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-12 16:50:37 +00:00
ebanks 7f1159b6a9 Added option to mask out SNP sites with "N"s in the new reference. 
This is useful when producing Sequenom input files for validating indels...


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1414 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-12 15:17:45 +00:00
ebanks 43f63b7530 Added a walker to convert a bam file to fastq format (including the option to re-reverse the negative strand reads). 
Picard has such a tool but it is geared towards their pipeline and requires intimate knowledge of the lanes/flowcells,etc.  This is just easy.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1413 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-12 15:10:40 +00:00
aaron d101c20b30 added the ability to pass in a csv file of ROD triplets (one triplet per line) to the -B option 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1412 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-11 22:10:20 +00:00
asivache e4acd14675 Now GenomicMap maps (and RemapAlignment outputs) regions between intervals on the master reference as 'N' cigar elements, not 'D'. 'D' is now used only for bona fide deletions. 
Also: do not die if alignment record does not have NM tags (but mapping quality will not be recomputed after remapping/reducing for the lack of required data)

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1411 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-11 21:10:17 +00:00
ebanks 2c3f56cb8d fix length calculation (it was including +/- char when it shouldn't) 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1410 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-11 20:28:24 +00:00
ebanks 5fab934f4e - moved the reference maker to its own directory 
- added first version of a more complicated reference maker which takes in RODs and creates an alternative reference based on the variants (indels and/or SNPs)


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1409 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-11 18:01:06 +00:00
aaron d69ae60b69 fixed two tests affected by my previous commit 
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@1408 348d0f76-0448-11de-a6fe-93d51630548a
 2009-08-11 17:57:50 +00:00