Commit Graph

44 Commits (7dadbae06850d9f1642751e59f1689725aff5ba5)

Author SHA1 Message Date
David Roazen cb84a6473f Downsampling: experimental engine integration
-Off by default; engine fork isolates new code paths from old code paths,
so no integration tests change yet

-Experimental implementation is currently BROKEN due to a serious issue
involving file spans. No one can/should use the experimental features
until I've patched this issue.

-There are temporarily two independent versions of LocusIteratorByState.
Anyone changing one version should port the change to the other (if possible),
and anyone adding unit tests for one version should add the same unit tests
for the other (again, if possible). This situation will hopefully be extremely
temporary, and last only until the experimental implementation is proven.
2012-09-06 15:03:27 -04:00
Eric Banks ded0e11b45 Killing off some FindBugs 'Realiability' issues 2012-08-16 14:00:48 -04:00
Eric Banks 40f0320a1c When adding a unit test to LIBS for X and = CIGAR operators, I uncovered a bug with the implementation of the ReadBackedPileup.depthOfCoverage() method. 2012-08-10 14:58:29 -04:00
Eric Banks 677babf546 Officially removing all code associated with extended events. Note that I still have a longer term project on my plate to refactor the ReadBackedPileup, but that's a much larger effort. 2012-06-15 15:55:03 -04:00
Roger Zurawicki b8b139841d DiagnoseTargets with working Q1,Median,Q3
- Merged Roger's metrics with Mauricio's optimizations
 - Added Stats for DiagnoseTargets
     - now has functions to find the median depth, and upper/lower quartile
     - the REF_N callable status is implemented
 - The walker now runs efficiently
 - Diagnose Targets accepts overlapping intervals
 - Diagnose Targets now checks for bad mates
 - The read mates are checked in a memory efficient manner
 - The statistics thresholds have been consolidated and moved outside of the statistics classes and into the walker.
 - Fixed some bugs
 - Removed rod binding

Added more Unit tests

 - Test callable statuses on the locus level
 - Test bad mates

 - Changed NO_COVERAGE -> COVERAGE_GAPS to avoid confusion

Signed-off-by: Mauricio Carneiro <carneiro@broadinstitute.org>
2012-05-29 10:16:45 -04:00
Mauricio Carneiro 902277856e fix for RBP getPileupsForSamples()
do not differentiate per sample pileups from generic pileups. Do the same for both -- it's O(n) either way.
2012-04-24 17:20:30 -04:00
Ryan Poplin cf705f6c62 Adding read position rank sum test to the list of annotations that get produced with the HaplotypeCaller 2012-04-17 17:00:00 -04:00
Mauricio Carneiro cd842b650e Optimizing DiagnoseTargets
* Fixed output format to get a valid vcf
   * Optimzed the per sample pileup routine O(n^2) => O(n) pileup for samples
   * Added support to overlapping intervals
   * Removed expand target functionality (for now)
   * Removed total depth (pointless metric)
2012-04-10 17:43:59 -04:00
Ryan Poplin a4634624b7 There are now three triggering options in the HaplotypeCaller. The default (mismatches, insertions, deletions, high quality soft clips), an external alleles file (from the UG for example), or extended triggers which include low quality soft clips, bad mates and unmapped mates. Added better algorithm for band pass filtering an ActivityProfile and breaking them apart when they get too big. Greatly increased the specificity of the caller by battening down the hatches on things like base quality and mapping quality thresholds for both the assembler and the likelihood function. 2012-04-10 14:48:23 -04:00
Eric Banks c2e27729c7 Renaming PileupElement.isBeforeDeletion() to PileupElement.isBeforeDeletedBase() so that it's more clear that it can still be true while inside a deletion. Added PileupElement.isBeforeDeletionStart() to cover the case that I want where we only trigger before the actual deletion event. Similarly for after a deletion. Updated counting code in ConsensusAlleleCounter accordingly. 2012-03-29 17:08:25 -04:00
Guillermo del Angel e0ab4e4b30 Refactoring so that ConsensusAlleleCounter can use regular pileups and can operate correctly. This involved adding utility functions to ReadBackedPileup to count # of insertions/deletions right after current position. Added unit test for IndelGenotypeLikelihoods, esp. ConsensusAlleleCounter logic 2012-03-28 21:01:31 -04:00
Mauricio Carneiro 3bfca0ccfd BitSet implementation of the on-the-fly recalibration using the CSV format file.
Infrastructure:
   * Added static interface to all different clipping algorithms of low quality tail clipping
   * Added reverse direction pileup element event lookup (indels) to the PileupElement and LocusIteratorByState
   * Complete refactor of the KeyManager. Much cleaner implementation that handles keys with no optional covariates (necessary for on-the-fly recalibration)
   * EventType is now an independent enum with added capabilities. All functionality is now centralized.

 BQSR and RecalibrateBases:
   * On-the-fly recalibration is now generic and uses the same bit set structure as BQSR for a reduced memory footprint
   * Refactored the object creation to take advantage of the compact key structure
   * Replaced nested hash maps with single hash maps indexed by bitsets
   * Eliminated low quality tails from the context covariate (using ReadClipper's write N's algorithm).
   * Excluded contexts with N's from the output file.
   * Fixed cycle covariate for discrete platforms (need to check flow cycle platforms now!)
   * Redfined error for indels to look at the previous base in negative strand reads (using new PE functionality)
   * Added the covariate ID (for optional covariates) to the output for disambiguation purposes
   * Refactored CovariateKeySet -- eventType functionality is now handled by the EventType enum.
   * Reduced memory usage of the BQSR script to 4

 Tests:
   * Refactored BQSRKeyManagerUnitTest to handle the new implementation of the key manager
   * Added tests for keys without optional covariates
   * Added tests for on-the-fly recalibration (but more tests are necessary)
2012-03-16 13:02:15 -04:00
Guillermo del Angel c9a4c74f7a a) Bug fixes for last commit related to PileupElements (unit tests are forthcoming). b) Changes needed to make pool caller work in GENOTYPE_GIVEN_ALLELES mode c) Bug fix (yet again) for UG when GENOTYPE_GIVEN_ALLELES and EMIT_ALL_SITES are on, when there's no coverage at site and when input vcf has genotypes: output vcf would still inherit genotypes from input vcf. Now, we just build vc from scratch instead of initializing from input vc. We just take location and alleles from vc 2012-02-24 10:27:59 -05:00
Guillermo del Angel 6866a41914 Added functionality in pileups to not only determine whether there's an insertion or deletion following the current position, but to also get the indel length and involved bases - definitely needed for extended event removal, and needed for pool caller indel functionality. 2012-02-23 09:45:47 -05:00
Mauricio Carneiro 5af373a3a1 BQSR with indels integrated!
* added support to base before deletion in the pileup
   * refactored covariates to operate on mismatches, insertions and deletions at the same time
   * all code is in private so original BQSR is still working as usual in public
   * outputs a molten CSV with mismatches, insertions and deletions, time to play!
   * barely tested, passes my very simple tests... haven't tested edge cases.
2012-02-09 18:46:45 -05:00
Ryan Poplin 5343f8ba67 Initial version of on-the-fly, lazy loading base quality score recalibration. It isn't completely hooked up yet but I'm committing so Mauricio and Mark can see how I envision it will fit together. Look it over and give any feedback. With the exception of the Solid specific code we are very very close to being able to remove TableRecalibrationWalker from the code base and just replace it with PrintReads -BQSR recal.csv 2012-02-05 13:09:03 -05:00
Mauricio Carneiro 45da892ecc Better exceptions to catch malformed reads
* throw exceptions in LocusIteratorByState when hitting reads starting or ending with deletions
2012-02-01 11:56:19 -05:00
Ryan Poplin febc634557 Changing PileupElement's isSoftClipped to isNextToSoftClip since soft clipped bases aren't actually added to pileups, oops. Removing the intrinsic clustered variants filter from the HaplotypeCaller 2012-01-31 16:06:14 -05:00
Ryan Poplin cdff23269d HaplotypeCaller now uses insertions and softclipped bases as possible triggers. LocusIteratorByState tags pileup elements with the required info to make this calculation efficient. The days of the extended event pileup are coming to a close. 2012-01-26 15:56:33 -05:00
Mauricio Carneiro ffd61f4c1c Refactor the Pileup Element with regards to indels
Eric reported this bug due to the reduced reads failing with an index out of bounds on what we thought was a deletion, but turned out to be a read starting with insertion.

   * Refactored PileupElement to distinguish clearly between deletions and read starting with insertion
   * Modified ExtendedEventPileup to correctly distinguish elements with deletion when creating new pileups
   * Refactored most of the lazyLoadNextAlignment() function of the LocusIteratorByState for clarity and to create clear separation between what is a pileup with a deletion and what's not one. Got rid of many useless if statements.
   * Changed the way LocusIteratorByState creates extended event pileups to differentiate between insertions in the beginning of the read and deletions.
   * Every deletion now has an offset (start of the event)
   * Fixed bug when LocusITeratorByState found a read starting with insertion that happened to be a reduced read.
   * Separated the definitions of deletion/insertion (in the beginning of the read) in all UG annotations (and the annotator engine).
   * Pileup depth of coverage for a deleted base will now return the average coverage around the deletion.
   * Indel ReadPositionRankSum test now uses the deletion true offset from the read, changed all appropriate md5's
   * The extra pileup elements now properly read by the Indel mode of the UG made any subsequent call have a different random number and therefore all RankSum tests have slightly different values (in the 10^-3 range). Updated all appropriate md5s after extremely careful inspection -- Thanks Ryan!

 phew!
2012-01-24 16:07:21 -05:00
Mauricio Carneiro 3d4bf273de Added getPileupForReadGroups to ReadBackPileup
* returns a pileup for all the read groups provided.
   * saves us from multiple calls to getPileup (which is very inefficient)
2012-01-03 09:35:11 -05:00
Eric Banks 7aee80cd3b Fix to deal with reduced reads containing a deletion 2011-11-14 12:23:46 -05:00
Eric Banks 3d2970453b Misc minor cleanup 2011-11-14 09:41:54 -05:00
Mauricio Carneiro e89ff063fc GATKSAMRecord refactor
The GATK engine will now provide a GATKSAMRecord to all tools which incorporates the functionality used by the GATK to the bam file (ReadGroups, Reduced Reads, ...).

* No tools should create SAMRecord anymore, use GATKSAMRecord instead *
2011-11-03 15:43:26 -04:00
Eric Banks 54331b44e9 New way of looking at the size of a pileup: there's a physical number of elements in the data structure and there's a representative depth of coverage (since a reduced read represents depth >= 1). The size() method has been removed because its meaning is ambiguous. Updated several annotations and the UG engine to make use of the representative depths. 2011-11-02 12:47:30 -04:00
Mark DePristo 034a997d07 Generalized Reads -> Fragment calculation
-- Supports ReadBackedPileup -> FragmentCollection as before
-- Added support for List<SAMRecord> -> FragmentCollection for Ryan's haplotype caller
-- General cleanup, renaming, move to separate package, more extensive unit tests, etc.
-- Added toFragment() function to ReadBackedPileup interface
2011-10-26 15:54:38 -04:00
Mark DePristo 7fa943aef1 Renamed FragmentPileup to FragmentUtils 2011-10-26 14:01:45 -04:00
Mark DePristo 502592671d Cleanup FragmentPileup before main repo commit
-- removed intermiate functions.  Now only original version and best optimized new version remain
-- Moved general artificial read backed pileup creation code into ArtificialSamUtils
2011-10-24 14:40:05 -04:00
Mark DePristo 166174a551 Google caliper example execution script
-- FragmentPileup with final performance testing
2011-10-24 14:04:53 -04:00
Mark DePristo 42bf9adede Initial version of "fast" FragmentPileup code
-- Uses mayOverlapRoutine in ReadUtils
-- Attempts to be smart when doing overlap calculation, to avoid unnecessary allocations
-- PileupElement now comparable (sorts on offset than on start)
-- Caliper microbenchmark to assess performance
2011-10-22 21:36:37 -04:00
Mark DePristo b863390cb1 Moving reduced read functionality into GATKSAMRecord
-- More functions take / produce GATKSAMRecords instead of SAMRecord
2011-10-21 13:28:05 -04:00
Mark DePristo 30d23942b1 Renamed ReadBackedPileup getXSampleName() functions to getXSample
-- now that we don't have Sample objects floating around we don't have to have all of the Name extensions on our functions
2011-09-30 10:02:57 -04:00
Mark DePristo 3289a325fc Removed final use of Sample in RBP 2011-09-30 09:57:39 -04:00
Mark DePristo 1765fbeb6b Merge branch 'master' into ped 2011-09-29 17:18:51 -04:00
Mark DePristo 98ecaf8aa0 Support for ReducedReads with reduced counts and average quals
-- ReadUtils and UnitTest updated to support new byte[] style
-- Removed unnecessary read transformer in PairHMM
2011-09-29 17:18:39 -04:00
Mark DePristo 625ffb6a07 LocusIteratorByState and ReadBackedPileups no long use Sample 2011-09-29 14:52:11 -04:00
Mark DePristo 68761a6e28 Removed sample from header 2011-09-29 14:13:05 -04:00
Mark DePristo 5c9227cf5e Further cleanup of Sample database
-- Removing more and more unnecessary code
-- Partial removal of type safe Sample usage.  On the road to SampleDB only
2011-09-29 11:50:05 -04:00
Mark DePristo 2a0cd556d3 Further cleanup of Sample
-- Cleaned up interface functions in GAE
-- Added Walker.getSampleDB() function which is an easier option for tools to get the samples db
2011-09-29 10:34:51 -04:00
Mark DePristo e76f381628 Moved sample package from DataSources to gatk, and renamed it samples
-- All associated changes to the codebase are just header updates
2011-09-29 09:57:15 -04:00
Mark DePristo 4f09453470 Refactored reduced read utilities
-- UnitTests for key functions on reduced reads
-- PileupElement calls static functions in ReadUtils
-- Simple routine that takes a reduced read and fills in its quals with its reduced qual
2011-09-26 12:58:31 -04:00
Mark DePristo 3db7ecb920 ReducedRead flag cached in GATKSAMRecord. 20% performance improvement 2011-09-06 15:11:38 -04:00
Mark DePristo 9992c373be Optimize imports run on the whole project, public and private. I just got too tired of all of the unused imports floating around. Confirmed that the system builds after the changes. 2011-07-17 20:29:58 -04:00
David Roazen 3c9497788e Reorganized the codebase beneath top-level public and private directories,
removing the playground and oneoffprojects directories in the process. Updated
build.xml accordingly.
2011-06-28 06:55:19 -04:00