Commit Graph

2536 Commits (fa018762555d53ee270b4e1d4edea8e613953aa0)

Author SHA1 Message Date
rpoplin f2e539c52f As per discussions with Tim we are reverting the previous change regarding PairedReadOrderCovariate. The CycleCovariate now differentiates between first and second of pair by multiplying the cycle by -1. PairedReadOrderCovariate has been removed completely.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2592 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-15 18:18:59 +00:00
asivache eae1b73945 Fixed a bug in left-adjusting the indels introduced in previous commit :-/
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2591 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-15 17:41:23 +00:00
rpoplin df998041a8 Minor change to solid warning message. Added note for a future solid recalibration integration test when we get the required data file.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2590 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-15 16:31:25 +00:00
rpoplin 70df30fc1b Added method to AlignmentUtils which takes a read's cigar and the refBases char array given to a ReadWalker and returns the aligned reference char array. Bug fix in solid_recal_modes to use this aligned reference array. Recalibrator version number is no longer separate for each of the two walkers.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2589 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-15 15:36:59 +00:00
ebanks 2a116bb5d6 Made the VCF validator a simple rod walker instead of having it be in a separate package.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2588 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-15 06:39:06 +00:00
hanna b19bb19f3d First successful test of new sharding system prototype. Can traverse over reads from a single
BAM file.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2587 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-15 03:35:55 +00:00
aaron db9570ae29 Looks bigger than it is:
* Moved GATKArgumentCollection into gatk.arguments folder to clean up the main folder, also added some associated argument classes (most of the changes).
* Added code the argument parsing system for default enums, we needed this so we could preserve the current unsafe flag, and at the same time allow finer grained control of unsafe operations.  You can now specify:

"-U" (for all unsafe operations), "-U ALLOW_UNINDEXED_BAM" (only allow unindexed BAMs), "-U NO_READ_ORDER_VERIFICATION", etc.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2586 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-15 00:14:35 +00:00
kiran 04fdbbfa65 This is the beginning of a new version of VariantEval that can cut VCF files up in a variety of ways with JEXL expressions, select one sample out of a multi-sample VCF, and can load analysis modules dynamically.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2584 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-14 17:45:58 +00:00
asivache df63f51253 No changes, just sync-ing; only some commented out debugging prints are added...
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2583 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-14 17:45:15 +00:00
asivache d85461c463 MergingIterator completely re-done. Now it is not a generic class (sorry guys), but rather it is tailored for merging ROD tracks. This implementation peeks the locations of next ROD annotations in each track, but does not actually read these RODs from underlying streams until the location is reached and it is time to actually return the object. Now underlying ROD track iterators (registered in the resource pool!) are not advanced prematurely past the current position and all the way to the next ROD record wherever it is, so that the sharding system can reuse them.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2582 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-14 17:43:36 +00:00
asivache c0891d512f added: peekNextLocation(); it's quite hard (and probably unnecessary, ever) to make seekable iterator a peekable one, but it is quite easy and useful to be able to peek just the next location the iterator will jump to after next call to next()
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2581 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-14 17:38:19 +00:00
ebanks a082b948a3 Support throughout for S and N cigar elements.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2579 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-14 03:45:42 +00:00
chartl 424d1b57f7 Sequenom to VCF now allows user to specify filters for QC, and they will appear in the filter field of the output VCF
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2577 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-13 23:22:37 +00:00
rpoplin 49c44e7b36 PairedReadOrderCovariate is now a standard covariate and because of this CycleCovariate no longer multiplies by negative one for second of pair reads. Added PairedReadOrderCovariate to some of the integration tests.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2574 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-13 20:09:10 +00:00
hanna 05575e2e56 Better bounding for the locus window. Don't make the locus window calculation blow up if the GenomeLoc ends
up being outside the reference.  Force the blowup elsewhere.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2573 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-13 17:03:54 +00:00
ebanks 8ca5bba738 We emit genotype data in the VCF record if the format string instructs us to (regardless of whether or not genotypes are provided - this was the wrong test).
SequenomToVCF now correctly has no-calls when probes fail.
Re-enabled SequenomToVCF integration test.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2572 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-13 15:40:27 +00:00
chartl 6d1107a4ed Update to SequenomToVCF
Output changing slightly so integration test disabled temporarily



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2571 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-13 15:32:05 +00:00
ebanks f99586f91b Added integration test for beagle and verbose output in UG.
Minor cleanup of VCFRecord code.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2570 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-13 03:55:24 +00:00
hanna 02e23e2d9c Threading support for beagle output files.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2569 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-13 02:42:16 +00:00
aaron 0513690416 two fixes in the new cached DbSNP code:
-isBiallelic would incorrectly say triallelic sites are biallelic.
-getAlternateAlleleList was broken, since the new cached list is immutable, we couldn’t remove list items.

Also added a dbSNP validating walker to the one-offs, for testing the new b37 130 dbSNP rod.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2568 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-13 00:27:34 +00:00
asivache a138bad95a A rare but not-so-subtle bug fixed: a funky alignment (a kind that should not have been generated in the first place) could make the indel left-adjusting method to overshoot read start and build a cigar like -3M6I...
also, few minor fix-ups.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2567 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-12 21:29:50 +00:00
rpoplin b51f4aae11 Updating the recalibrator to make use of StingSAMFileWriter.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2566 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-12 20:58:27 +00:00
rpoplin c8ad025ad0 cleaning up unused import statements
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2565 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-12 18:52:37 +00:00
rpoplin 189829841b The recalibrator now uses all input RODs when looking for known polymorphic sites not just the one named dbsnp. Added an integration test which uses both dbsnp and an input vcf file and skips over the union of the two.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2564 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-12 18:50:39 +00:00
aaron 16777e3875 more fixes for the empty interval list problem; you can now run LocusWindow traversals with an empty interval list, but the GATK will give you a warning (unless you're running in unsafe mode).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2563 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-12 18:47:43 +00:00
hanna 35a4fcc481 Additional sanity checking: make sure the user can't alter the header / compression level / presorted state of a file to which SAMRecords have already been written.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2562 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-12 18:39:41 +00:00
ebanks 03b7d5f5c7 1. Fixed small but embarrassing bug in weighted Allele Balance annotation calculation.
2. Made RankSumTest abstract; added 2 subclasses: BaseQualityRST and MappingQualityRST (the latter based on a suggestion from Mark Daly).  Untested so they're still experimental.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2561 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-12 18:33:53 +00:00
hanna 58999a8e9d Enhance the I/O management system to support custom headers and set the presorted flag
from the initialize() method (or at any time before the first SAM record is written).


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2560 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-12 18:21:42 +00:00
aaron 3c5f5177b1 check to see if the parsed interval list is empty, since we now allow interval files that are empty. If so, make sure we default to a non-interval based traversal.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2559 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-12 17:52:27 +00:00
ebanks 040fdfee61 Cleaned up the interface to VCFRecord. It's now possible (and easy) to create records and then write them with a VCFWriter.
I've updated HapMap2VCF to use the new interface; Chris agreed to take care of Sequenom2VCF.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2558 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-11 21:42:12 +00:00
ebanks 42aff1d2c3 Annotator in general should be able to annotate monomorphic or tri-allelic sites.
It's up to the individual annotations to decide whether they want to annotate or not.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2556 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-11 19:52:18 +00:00
rpoplin 11f91b3c95 Reverting Eric's previous change because it killed the PG tag in the output bam file header. Added a new -compress command line argument to set the compression level of the output bam file.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2555 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-11 19:02:56 +00:00
chartl dfa3c3b875 Added:
SequenomToVCF - Takes a sequenom ped file and converts it to a VCF file with the proper metrics for QC. It's currently a rough draft,
but is working as expected on a test ped file, which is included as an integration test.

Modified:

VCFGenotypeCall -- added a cloneCall() method that returns a clone of the call

Hapmap2VCF -- removed a VCFGenotypeCall object that gets instantiated and modified but never used
(caused me all kinds of confusion when I was basing SequenomToVCF off of it)



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2554 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-11 17:17:21 +00:00
rpoplin 62dd2fa5be Fixing another bug in solid recal regarding negative strand reads. The isInconsistentColorSpace method incorrectly used the inconsistent tag added by parseColorSpace, the inconsistent tag is in the direction of the read like the color space tag, and not in the direction of the reference like everything else. This affects the recalibrated quality scores but the improvment in SNP calling performance is minor when using the default UG settings (min base quality 10).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2553 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-11 14:28:52 +00:00
ebanks 971834ca90 Added a walker to the vcf tools compilation: one that combines vcf records. Both merges and unions are supported (see documentation... when it gets written this week).
Also, moved some code that pulls samples out of rods from VCFUtils into SampleUtils.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2552 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-10 06:45:11 +00:00
ebanks 80af0f2f54 Changed the OUTPUT_BAM_FILE argument from String to SAMFileWriter and removed the call to close().
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2551 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-10 03:45:54 +00:00
hanna 7893aaefe9 Updates to chunk iteration. Includes the return of the dreaded *2.java files;
hopefully I can find a way to kill these off before the Picard patch is ready.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2550 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-08 20:20:56 +00:00
ebanks fcce77c245 Added -beagle option to emit likelihoods file for use with the BEAGLE imputation engine; still experimental.
(Also converted getPileup -> getBasePileup)


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2549 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-08 18:41:04 +00:00
rpoplin 9cbae53ee1 Bug fixes for both SET_Q_ZERO and REMOVE_REF_BIAS solid recal modes regarding proper handling of negative strand reads. These changes yield a minor improvment in HapMap sensitivity.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2548 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-08 15:19:22 +00:00
ebanks d5ab002449 Curiously, it seems I never set the default base quality used by the Genotyper to 10. It's done now.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2546 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-08 06:02:01 +00:00
ebanks b468369dfa -UG's call into VariantAnnotator now uses the full alignment context (as opposed to the filtered one)
-MQ0 annotation is now standard again
-Added AC and AN annotations to VCF output



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2545 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-08 05:40:42 +00:00
rpoplin f587ff46af Tile is now a standard covariate. By default the TileCovariate returns -1 if tile can't be derived from the read's name. Added a new command line option -throwTileException which will force TileCovariate to throw an exception if tile can't be derived for a read. Singleton covariates, such as any read group without tile info, must be skipped over in TableRecalibration so that the sequential formulation doesn't apply the same correction more than once. TileCovariate class has been added to the Early Access package.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2544 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 22:51:41 +00:00
asivache d01bde36a4 Make sure that reference view holds enough bases to pass full-length deleted sequence to the walker's map() function in extended event mode (this addresses the problem of a deletion crossing the shard's boundary, so that an attempt to extract deleted bases results in a crash)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2543 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 22:37:22 +00:00
asivache e9bc85c188 Now has methods that allow to 1) check if a location is within the bounds of the reference view; 2) expand reference view (i.e. expand the bounds and reload the reference sequence) in order to accomodate specified location. The second method can be called directly since it performs a check and if the location is already within the bounds, then returns immediately. The costly ref sequence reloading occurs only when the location is not fully contained within the current bounds.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2542 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 22:35:17 +00:00
asivache 7f91b4d824 Bug fix. It would be nice if we could extract ROD annotations for the whole length of an extended event (indel), and we tried... But alas, it does not work with the current ROD system (after extracting length on ref > 1 ROD data for a deletion, rod iterator crashes on the attempt to re-load annotations for next reference base)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2541 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 21:30:55 +00:00
rpoplin 5f58492401 A rogue QualityUtils.MAX_REASONABLE_Q_SCORE managed to get through my previous bug fix. It should instead check the command line -maxQ argument.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2540 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 21:17:39 +00:00
ebanks c7a8dffa89 Check for division by 0 in annotations
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2539 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 19:27:15 +00:00
ebanks 9a658e6b18 -Fixed VCF header line bug
-Added useful trim() method for Strings for characters other than whitespace


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2538 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 17:51:41 +00:00
ebanks b643a513bb Minor interface change for VCFGenotypeRecord.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2537 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 16:48:09 +00:00
andrewk 431e9c2c8b Add dbSNP ID to VCF output records
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2536 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 15:30:04 +00:00
depristo 076481f786 Fixes to mergeVCF -- now correctly supports merging of filter fields. Also removed incorrect hasFilteringCodes() function. Updated intergration tests
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2535 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 14:50:13 +00:00
rpoplin cea544871d Fixed an issue with recalibrating original quality scores above Q40. There is a new option -maxQ which sets the maximum quality score possible for when a RecalDatum tries to compute its quality score from the mismatch rate. The same option was added to AnalyzeCovariates to help with plotting q scores above Q40. Added an integration test which makes use of this new -maxQ option.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2534 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 13:50:30 +00:00
ebanks 6c739e30e0 1. Removing an old version of the Genotype interface which is no longer being used. Needed to do this now so that the naming conflicts would cease.
2. Adding a preliminary version of the new Genotype/Allele interface (putting it into refdata/ as the VariantContext really only applies to rods) with updates to VariantContext.  This is by no means complete - further updates coming tomorrow.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2533 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 05:51:10 +00:00
depristo a9245a58e2 Fix for incorrect exception throwing in VCFRecord. It is reasonable to ask for the non-ref allele freq at all ref sites. Was only passing in tests because isReference was broken
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2532 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 01:18:30 +00:00
depristo 7215526810 Fix to isReference() in VCFRecord. Change to VariantCounter to correctly counter only non-genotype variants, as well as update to VariantEvalWalker
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2531 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-07 00:03:29 +00:00
andrewk 6c4ac9e663 Updated HapMap2VCF to use the VCFGenotypeWriterAdapter interface; fixed bug in VCFParameters that affects VariantsToVCF and HapMap2VCF when reference is lower-cased; added integration test for HapMap2VCF that checks for the lower-case issue by testing against Hg18 region that has lower-cased bases
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2530 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 21:27:11 +00:00
aaron 576594eda2 clean-up of the GATK paper genotyper, and better output formatting for the simple call format we emit.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2529 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 20:54:56 +00:00
chartl 7e3e714d3c Moving experimental annotations from core to oneoffs
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2528 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 19:34:10 +00:00
chartl a32245f7d2 Modifications:
QualityUtils - Stole the BaseUtils code for flipping reads around and applied it to quality scores
SecondBaseSkew - Nothing's really different, just a commented line

Additions (experimental annotations for future development of second-base annotation)
** I DO NOT INTEND FOR ANYONE TO USE THESE **
- ProportionOfNonrefBasesSupportingSNP
- ProportionOfSNPSecondBasesSupportingRef
- ProportionOfRefSecondBasesSupportingSNP
  + I hope these are self-explanatory
- QualityAdjustedSecondBaseLod
  + Adjust lod-score by 10*log10[P[second bases are as observed]]

Added walker:

QualityScoreByStrand - oneoff project that's being saved if i ever need it



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2527 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 19:18:07 +00:00
asivache eb899741e1 reverting last changes. no cacheing
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2526 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 18:59:37 +00:00
asivache a17d725c35 Cache pileup bases and mapping quals after first call to getBases() and getMappingQuals(), respectively. Subsequent calls to these method will return cached arrays.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2525 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 18:05:00 +00:00
ebanks d6fb19bb67 Don't hard-code base qual max
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2010-01-06 17:21:44 +00:00
rpoplin 75809100c6 Use inheritance so that shared code isn't duplicated between the RecalDatums
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2523 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 16:45:16 +00:00
ebanks fdd14e1a01 Proposed interface for VariantContext. It's currently an interface so it doesn't break the build...
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2521 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 16:31:39 +00:00
rpoplin e011a1b6f8 Cut the memory footprint of the RecalDatum in half to improve performance of CountCovariates when run with many covariates.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2520 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 16:12:27 +00:00
rpoplin 370a365147 Small runtime improvement in TableRecalibration.
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2010-01-06 15:51:12 +00:00
ebanks b745c2f8d7 Fix for Jared: don't blow up if there are no samples in the input (since that's allowed) - but warn the user just in case.
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2010-01-06 15:37:06 +00:00
depristo 1e462419da trivial code restructuing, and commented out failed attempt to support sample selection with VCF. VariantEval2 go go go
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2010-01-06 15:04:27 +00:00
depristo f857159343 useful convenience function to get a genotype associated with a particular sample
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2515 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 15:03:07 +00:00
depristo 34519b3e3b Better printing support for false positives and false negatives in concordance tables
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2010-01-06 15:02:40 +00:00
depristo 592749a7c1 isNBase method
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2513 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 15:01:51 +00:00
depristo 5ce11c3dad toString method
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2010-01-06 15:01:20 +00:00
rpoplin 1c90e6a954 More informative error message in AnalyzeCovariates and cleanup
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2511 348d0f76-0448-11de-a6fe-93d51630548a
2010-01-06 14:56:29 +00:00
depristo bca3d1b943 useful convenience function to get a genotype associated with a particular sample
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2010-01-06 14:53:56 +00:00
depristo ec774f62be Some checking to protect the BasicGenotype
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2010-01-06 14:53:24 +00:00
rpoplin 71ecbe75d7 AnalyzeCovariates would crash with 'too many open files' exception when spawning Rscript jobs for every read group at once. It now waits for some to finish before spawning the rest.
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2010-01-06 14:19:02 +00:00
depristo 21a50eedb5 Simple extension to VariantEval: --includeFilteredRecords will now keep filtered VCF records so you can see what the entire call set looks like. Looking forward to VariantEval v2 from Kiran.
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2010-01-06 12:59:09 +00:00
depristo 8d13597a27 Temporary command-line support to enable rod walkers, if you know what you are doing this is safe.
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2010-01-06 12:15:36 +00:00
ebanks d8351cb9fc Give Annotations access to rod data.
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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.



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2010-01-05 17:07:19 +00:00
hanna a4b69d0adf Misc bug fixes.
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2010-01-05 14:48:19 +00:00
depristo c209ba55aa More informative error message
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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.
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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.


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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.


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2010-01-02 20:19:14 +00:00
asivache 46362ce532 In extended event lines, now prints deletions in verbose format as well (e.g. "-AAT")
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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().
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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 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 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
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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.
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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
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.
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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!
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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
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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
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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.


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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.



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2009-12-29 15:33:53 +00:00
rpoplin 29a3d9b47a AnalyzeCovariates also has to skip over NO_DINUC
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2009-12-29 14:36:05 +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 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.


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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
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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...
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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.


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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.



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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.



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2009-12-24 03:06:46 +00:00
ebanks 6df40876a3 Un-reverted Matt's previous changes and fixed integration tests.
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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.


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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.


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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


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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.
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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.


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2009-12-23 21:35:08 +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



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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.



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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.


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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).
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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.
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2009-12-22 20:43:44 +00:00
ebanks 03bf75e335 Now implements TreeReducible
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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.


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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
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2009-12-21 21:01:55 +00:00
ebanks cf303810d3 VCF reader now creates the correct type of header line for each header type
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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
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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.



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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.


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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.


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2009-12-21 00:39:36 +00:00
hanna 9e53c06328 First revision of command-line argument support for GenotypeWriter. Also, fixed the damn build.
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2009-12-20 19:19:23 +00:00
ebanks 4ff61097cf Trivial change: < -> <=
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2009-12-20 03:35:27 +00:00
ebanks 566b556b50 Give user ability to turn off max allowed interval size
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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.
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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
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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.
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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.
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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.
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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.
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2009-12-18 22:39:51 +00:00
aaron c39675d2c1 VCFTool.java got left off of the last commit
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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.
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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
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2009-12-18 18:51:21 +00:00
chartl 79b997f43d Minor fix to getValue (thanks Ryan!)
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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.
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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.
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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...



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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.



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2009-12-18 07:20:23 +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.



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2009-12-18 04:14:14 +00:00
jmaguire 98839193b7 compatibility with VCF lib's switch to GenomeLoc.
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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.
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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.
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2009-12-17 20:07:26 +00:00
ebanks c75ec67f84 When called as a standalone, VariantAnnotator now emits samples in sorted (as opposed to random) order in VCFs.
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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.
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2009-12-17 18:25:09 +00:00
hanna 9143822822 Fix half-hearted attempt to try to move classes from package to package.
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2009-12-17 17:41:42 +00:00
asivache acb4d477da sync...
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2009-12-17 01:03:01 +00:00
asivache ba86508854 remove debug print command
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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?
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2009-12-16 23:29:07 +00:00
hanna 5b78354efd Fixed NPE in index check with RefWalkers.
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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.


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2009-12-16 21:55:42 +00:00
ebanks bef1c50b3b Some cleanup
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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)


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2009-12-16 21:39:58 +00:00
andrewk 36875fca89 Update documentation in the new help system
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2009-12-16 21:33:12 +00:00
hanna ee47eb4367 Make filters used available to the walker via getToolkit().
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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.



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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())
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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.



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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.

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2009-12-15 23:04:40 +00:00
andrewk 1035abc85f Add minimum base quality thresholding to depth of coverage via getBaseAndMappingFilteredPileup
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2009-12-15 22:58:30 +00:00
sjia 2deae95df9 Updated documentation
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2009-12-15 21:31:47 +00:00
hanna 555976d575 One more walker with formatting to fix.
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2009-12-15 21:23:13 +00:00
hanna cf46472419 Fix up Sherman's new docs in compliance with javadoc specs.
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2009-12-15 21:20:38 +00:00
sjia df79ed8db1 Updated documentation
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2009-12-15 20:53:41 +00:00
sjia a80a5f1036 Updated documentation
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2009-12-15 20:52:08 +00:00
sjia 18f61d2586 Updated documentation
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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.
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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.


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2009-12-15 19:02:23 +00:00
depristo a810586418 Check-in without javadoc = smackdown
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2009-12-15 15:32:39 +00:00
ebanks b234019cf5 Readded locus printing suppression to DoC walker
(and removed unused import from UG)


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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
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2009-12-15 14:38:39 +00:00
ebanks bf7bab754e Made getPileupWithoutMappingQualityZeroReads() and getPileupWithoutDeletions() more efficient, per Mark's cue.
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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]



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2009-12-15 04:29:28 +00:00
depristo 2cbc85cc7a min mapping quality and min base quality arguments for UG
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2009-12-15 03:57:27 +00:00
depristo faa638532a Correct location
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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
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2009-12-15 02:40:15 +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)



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2009-12-14 21:57:20 +00:00
rpoplin 8e44bfd2ef CycleCovariate and PrimerRoundCovariate now correctly handle negative strand 454 and SOLID reads.
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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.
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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)
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2009-12-14 00:15:44 +00:00
ebanks 97618663ef Refactored and generalized the VCF header info code.
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2009-12-13 21:02:45 +00:00
depristo 05b8782d5f Documentation updates. Moved CountX.java walkers to QC
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2009-12-13 18:40:22 +00:00
depristo 92307361a4 In preparation for move
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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.
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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



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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.
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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.
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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.
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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.


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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).


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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.
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2009-12-11 21:57:18 +00:00
kiran 38d9f7b903 Renamed ReferenceContext's getSimpleBase() method to getBaseIndex()
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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.
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2009-12-11 19:51:05 +00:00
hanna 0da2105e3c Moving DuplicateQualsWalker to oneoffprojects.
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2009-12-11 19:22:32 +00:00
rpoplin 60c3eb4b60 Added help.description to the recalibration walkers.
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2009-12-11 19:02:29 +00:00
ebanks 2ea7632b76 The SNP genotype concordance module is now more comprehensive.
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2009-12-11 18:34:33 +00:00
hanna 590aeee7d2 Documentation for more basic walkers.
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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.
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2009-12-11 18:02:33 +00:00
hanna 956c36a2c8 Help for the qc package.
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2009-12-11 17:32:47 +00:00
hanna 450ea233a5 Docs for the basic walkers: CountLoci, CountReads.
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2009-12-11 17:17:34 +00:00
hanna f97ac939fa Punch up the help documentation for CombineDuplicates.
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2009-12-11 17:09:35 +00:00
aaron 86dc98bfb5 update the documentation for CombineDuplicates for the new help system.
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2009-12-11 17:01:42 +00:00
aaron 420725441a documentation updates for the new help system.
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2009-12-11 16:15:44 +00:00
hanna 23d96b1d43 Help system content for the alignment module.
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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.



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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
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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.
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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.
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2009-12-10 22:14:44 +00:00
ebanks 2869270c11 Fixed deletion depth calculation plus mis-spelling in ReadBackedPileup method.
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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.
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2009-12-10 19:50:06 +00:00
hanna 0c396f04a2 Fix obvious cut/paste error in output stream management code.
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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.



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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.
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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.


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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.


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2009-12-10 16:43:06 +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).



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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.
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2009-12-10 04:16:21 +00:00
ebanks 78d5ac9bc2 Don't check het count when there are multiple Genotypes per Variation.
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2009-12-10 04:07:47 +00:00
ebanks f7c44ad019 - Read in arguments for the header based on reflection
- Hook up Variation and Genotype in SSG



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2009-12-09 21:35:33 +00:00
hanna 408f6f3dee Refactoring of prior commit: better handling of unnamed package within the help system.
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2009-12-09 20:12:35 +00:00
hanna 1d2151adcf Better handling of nulls output by
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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.
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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 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.)



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2009-12-08 21:43:28 +00:00
hanna 9e2f831206 A bit of cleanup in preparation for Picard patch.
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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.


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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).


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2009-12-07 21:33:11 +00:00
hanna a3e88c0b1c Cleanup results of bad merge.
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2009-12-07 19:30:49 +00:00
hanna 10be5a5de9 Move some files around to reflect our growing help infrastructure.
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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.
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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.



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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.
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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).



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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.


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2009-12-04 23:24:29 +00:00
depristo 07b88621c5 Improved RankSum calculations and RankSum annotation. Much more meaningful
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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.


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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.



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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.
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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).
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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



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2009-12-04 02:15:43 +00:00
ebanks aef4be5610 Moved CoarseCoverageWalker to core and packaged both coverage walkers in coverage/
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2009-12-03 17:53:36 +00:00
ebanks df4e001a07 Renamed to more accurately describe its function.
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2009-12-03 17:34:49 +00:00
ebanks c2017cc91b PrintCoverageWalker functionality moved to DepthOfCoverageWalker. Added integration tests.
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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



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2009-12-03 17:01:53 +00:00
ebanks 44b9f60735 PercentOfBasesCovered functionality moved to DepthOfCoverageWalker. Added integration tests.
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2009-12-03 16:11:09 +00:00
ebanks 126d1eca35 Move to core (qc/)
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2009-12-03 15:45:58 +00:00
ebanks 9da5cc25ad More archiving (with permission from Andrey) plus a move to core.
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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
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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.



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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)



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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.
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2009-12-02 23:15:52 +00:00
depristo c776f9fb90 Simple utilities for dealing with Complete Genomics data
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2009-12-02 22:51:41 +00:00
ebanks a09fee2b5e Moved some more walkers to oneoffprojects and killed an old indel-related walker that isn't being used.
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2009-12-02 20:28:07 +00:00
depristo dec0a781c2 Un-reinventing the wheel. --sleep argument removed.
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2009-12-02 20:19:28 +00:00
ebanks a3343c75db Move and rename a hybrid-selection-specific coverage calculation to hybridselection/
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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).
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2009-12-02 20:04:22 +00:00
chartl 6a9e7bea05 Removing experimental annotations
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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.



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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.



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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
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2009-12-02 15:41:35 +00:00
aaron d487428468 remove incorrect parentheses
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2009-12-02 06:46:32 +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



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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?



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2009-12-02 01:59:03 +00:00
ebanks 3303808a8f Yet more walkers moved to oneoffprojects.
Made hybridselection subdir in playground.


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2009-12-01 21:29:12 +00:00
ebanks 05923f7fba Started transition to oneoffprojects.
Moved/killed a few other walkers (with permission).



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2009-12-01 21:19:02 +00:00
ebanks c36069355e Trivial change to verbose
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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).




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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.




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2009-12-01 17:25:00 +00:00
ebanks e581cceab6 Got Kris's permission to delete these walkers.
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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.
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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




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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.



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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.
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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.
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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.



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2009-12-01 04:50:47 +00:00
rpoplin 6bb864da2a More misc cleanup.
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2009-11-30 22:29:07 +00:00
rpoplin b89b9adb2c misc code cleanup
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2009-11-30 21:16:00 +00:00
depristo e793e62fc9 minor code cleanup
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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.
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2009-11-30 20:35:40 +00:00
ebanks add2fa7ab4 more use of new ReadBackedPileup optimizations
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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.
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2009-11-30 19:59:17 +00:00
ebanks e9a8156cfb Use new optimized ReadBackedPileup
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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.
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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.



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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().
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2009-11-30 01:39:01 +00:00
chartl 27651d8dc2 Oops. numReads is now called size
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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.


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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
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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.
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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...
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2009-11-25 23:30:39 +00:00
alecw ac1b289d55 Add tile to ReadHashDatum, and implement TileCovariate
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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
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2009-11-25 20:54:44 +00:00
rpoplin b44363d20a Removed silly casts from Integer to int.
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2009-11-25 19:59:21 +00:00
ebanks d0f673f0c0 Use Math.abs so we don't get (inconsistent) -0's
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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.
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2009-11-25 15:41:12 +00:00
aaron cfbd9332b0 small cleanups for the GATK paper genotyper; switched to the managed output system.
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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
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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.
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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



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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
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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.
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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
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2009-11-24 19:19:47 +00:00
andrewk 3fca23cd16 Added a stub treeReduce function for debugging multi-threaded execution.
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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 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
ebanks ed4cf3de57 Check that we're biallelic before calling isSNP()
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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 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.
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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



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2009-11-23 02:55:43 +00:00
ebanks 753cb100a3 Add checks for weird situations
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2009-11-23 02:14:25 +00:00
ebanks 04d6ac940c Always print out VCF header - not just when there is genotype data present.
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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.



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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).
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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.


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2009-11-22 15:26:07 +00:00
depristo 9c206abb97 removing unnecessary printing
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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.



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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]


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2009-11-20 16:13:18 +00:00
hanna 38a030f2ba Finishing off data transfer conduits for single alignment generator.
Misc bug fixes elsewhere.


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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
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2009-11-20 03:12:20 +00:00
depristo 82fd824c4d Continuing improvements to unified genotyper
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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).

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2009-11-19 23:06:49 +00:00
rpoplin 22aaf8c5e0 Added the old recalibrator integration tests to the refactored recalibrator sitting in playground.
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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.


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2009-11-19 21:20:03 +00:00
hanna a972b2769f Checkpoint. Add first phase of single alignment interface.
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2009-11-19 19:03:43 +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.

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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)
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2009-11-19 17:46:10 +00:00
alecw 7623b39927 Add rodPicardDbSNP
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2009-11-19 17:27:46 +00:00
alecw b2b4ff7eca Cache SAMReadGroup rather than get it twice
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2009-11-19 17:27:18 +00:00
depristo eeb3a3fffb comments for Aaron
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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.
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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.


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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.
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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


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2009-11-18 22:01:32 +00:00
ebanks 087e01a439 minor changes for --noSLOD
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2009-11-18 18:48:01 +00:00
ebanks a70cf2b763 A bunch of changes needed to make outputting pooled calls possible
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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.


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2009-11-18 17:43:15 +00:00
chartl 405c6bf2c1 VariantEval genotype concordance for pools! Integration test coming soon
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2009-11-18 17:24:54 +00:00
depristo 6fe1c337ff Pileup cleanup; pooled caller v1
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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).
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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




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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. 



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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.




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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.


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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).




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2009-11-18 00:11:13 +00:00
depristo 42a0bbaf46 Minor reformating for pooled calling
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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.
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2009-11-17 21:50:52 +00:00
ebanks 4d9c826766 Integration tests actually run on real data now.
<tries to hide sheepish grin>


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2009-11-17 21:04:14 +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



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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.
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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.
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2009-11-17 16:50:01 +00:00
asivache 21729d9311 Do not print debug message when debug mode is not requested!!
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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.
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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.
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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.



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2009-11-16 02:41:20 +00:00
hanna ce5034dc5d Finally reinstate the iterator-style interface. Get rid of some scaffolding code.
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2009-11-16 02:34:19 +00:00
kiran 103763fc84 An accessor for the VCF header
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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
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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
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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.
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2009-11-14 18:44:05 +00:00
rpoplin 672472789e Added some documentation to the helper classes. Fixed an error case in TableRecalibrationWalker.
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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.


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2009-11-13 22:55:27 +00:00
rpoplin d1b525b428 Default window size for NQS covariate is 3
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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.
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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



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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
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2009-11-13 15:41:26 +00:00
rpoplin b1376e4216 structure refactored throughout for performance improvements
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2009-11-13 15:41:09 +00:00
depristo cff31f2d06 comments for eric
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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.
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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).



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2009-11-13 03:59:13 +00:00
mmelgar 72825c4848 A walker that generates a table of secondary base counts in a bam file.
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2009-11-13 02:11:23 +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.


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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.



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2009-11-12 22:51:49 +00:00
mmelgar 3742a05760 Now can read E2 or SQ tag.
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2009-11-12 15:18:21 +00:00
aaron c3c001e02e cleanup of the traversal output code
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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)
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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.
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2009-11-12 02:14:50 +00:00
hanna 2ea85fb62b Fix some problematic command-line argument naming and descriptions.
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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.
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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
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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.


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2009-11-11 03:59:32 +00:00
hanna 499e7d1d75 Push forward some more delicate merging routines.
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2009-11-11 03:07:34 +00:00
hanna bae4d3f7ea Updated Picard with fix for Doug Voet. Thanks Alec.
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2009-11-11 02:01:08 +00:00
hanna 2e4782f202 Command-line arguments for SamReadFilters.
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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