Commit Graph

1836 Commits (c8ed0bfc4cf49c5edd27ef2e0f9e92593cfa375c)

Author SHA1 Message Date
Eric Banks b4999d14c1 updating docs 2012-05-08 10:58:46 -04:00
Guillermo del Angel 33a1dd2048 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-08 10:42:12 -04:00
Eric Banks 5cf4fd63c2 Catch malformed base qualities and throw as a User Error 2012-05-08 09:34:57 -04:00
Guillermo del Angel a4f4b5007b Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-08 09:34:33 -04:00
Guillermo del Angel 605984353f Pool Caller improvements: a) New non-standard private annotation Heteroplasmy which measures mean heteroplasmy (pool AF) across called samples, meant for easier mtDNA calling. Pure homoplasmic variants (pool AF = 1 or 0) would have heteroplasmy=1. b) Don't output pool genotypes by default for large pool sizes because it makes file sizes explode and they're unreadable. c) Refactored classes ExactACCounts and ExactACSet and moved to superclass AlleleFrequencyCalculationModel because both Pool and Exact AF calculation models will use it. d) Initial refactorings and skeleton for linearized multi-allelic exact model (not done yet). e) Unit test for Pool AF calculation model. 2012-05-08 09:33:38 -04:00
Eric Banks c40cda7e3c Nope, loads of integration tests had to be changed. 2012-05-07 14:30:42 -04:00
Eric Banks 66838a073e Very annoying: we have been emitting an extra TAB in the header of the VCF (which breaks some parsers) for sites-only file. Hopefully not too many integration tests will need to be fixed... 2012-05-07 12:20:11 -04:00
David Roazen 6b769e91d8 BCF2: third checkpoint
* writer mostly implemented
* walkers to convert BCF2 <-> VCF
* almost working for sites-only files; genotypes still need work
* initial performance tests this afternoon will be on sites-only files
2012-05-04 13:00:15 -04:00
Eric Banks f3433201b1 Merged bug fix from Stable into Unstable 2012-05-03 11:11:00 -04:00
Eric Banks 557da77a1a Don't compute QD if there is no QUAL; added integration test for this 2012-05-03 11:02:37 -04:00
Eric Banks 1fc7b5d58b Merged bug fix from Stable into Unstable 2012-05-03 10:37:58 -04:00
Laurent Francioli 567d01cee8 - Added option to output the father's allele first in phased child haplotypes - BUG corrected causing wrong phasing of child/father pairs
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-05-03 10:36:49 -04:00
Laurent Francioli 96e5a26223 PED support for Inbreeding Coefficient annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-05-03 10:36:20 -04:00
Mark DePristo 43d97c2e00 Rev Tribble to r97, adding binary feature support
From tribble logs:

Binary feature support in tribble

-- Massive refactoring and cleanup
-- Many bug fixes throughout
-- FeatureCodec is now general, with decode etc. taking a PositionBufferedStream
as an argument not a String
-- See ExampleBinaryCodec for an example binary codec
-- AbstractAsciiFeatureCodec provides to its subclass the same String decode,
readHeader functionality before.  Old ASCII codecs should inherit from this base
class, and will work without additional modifications
-- Split AsciiLineReader into a position tracking stream
(PositionalBufferedStream).  The new AsciiLineReader takes as an argument a
PositionalBufferedStream and provides the readLine() functionality of before.
Could potentially use optimizations (its a TODO in the code)
-- The Positional interface includes some more functionality that's now
necessary to support the more general decoding of binary features
-- FeatureReaders now work using the general FeatureCodec interface, so they can
index binary features
-- Bugfixes to LinearIndexCreator off by 1 error in setting the end block
position
-- Deleted VariantType, since this wasn't used anywhere and it's a particularly
clean why of thinking about the problem
-- Moved DiploidGenotype, which is specific to Gelitext, to the gelitext package
-- TabixReader requires an AsciiFeatureCodec as it's currently only implemented
to handle line oriented records
-- Renamed AsciiFeatureReader to TribbleIndexedFeatureReader now that it handles
Ascii and binary features
-- Removed unused functions here and there as encountered
-- Fixed build.xml to be truly headless
-- FeatureCodec readHeader returns a FeatureCodecHeader obtain that contains a
value and the position in the file where the header ends (not inclusive).
TribbleReaders now skip the header if the position is set, so its no longer
necessary, if one implements the general readHeader(PositionalBufferedStream)
version to see header lines in the decode functions.  Necessary for binary
codecs but a nice side benefit for ascii codecs as well
-- Cleaned up the IndexFactory interface so there's a truly general createIndex
function that takes the enumerated index type.  Added a writeIndex() function
that writes an index to disk.
-- Vastly expanded the index unit tests and reader tests to really test linear,
interval, and tabix indexed files.  Updated test.bed, and created a tabix
version of it as well.
-- Significant BinaryFeaturesTest suite.
-- Some test files have indent changes
2012-05-03 07:31:48 -04:00
Mark DePristo 58c470a6c5 Rev'ing Tribble from 53 to 94
-- Other tribble contributors did major refactoring / simplification of tribble, which required some changes to GATK code
-- Integrationtests pass without modification, though some very old index files (callable loci beds) were apparently corrupt and no longer tolerated by the newer tribble codebase
2012-05-03 07:31:47 -04:00
Khalid Shakir b8b7f28aa9 Revving Picard to pick up new SamFileHeaderMerger.
Updated ReadFilter abstract class to implement (via UnsupportedOperationException) the new SamRecordFilter.filterOut().
In IndelRealignerIntegrationTest updates for Picard fixes to SAMRecord.getInferredInsertSize() in svn r1115 & r1124.
- Ran FixMates to create new input BAM since running IR with variable maxReadsInMemory means all reads weren't realigned leading to different outputs.
- Updated md5s to match new expectations after looking at TLEN diff engine output.
2012-05-02 16:47:28 -04:00
Mauricio Carneiro f51a1d0d61 Better error message to the BAMScheduler
In the case where the BAM file was aligned using a reference but analysis is being attempted with a different reference.
2012-05-02 16:10:00 -04:00
Mauricio Carneiro 940029fa5d Fixing on-the-fly recalibration (caught by Ryan)
low quality bases in the tails were being turned to N's in the final read.
2012-05-02 16:06:04 -04:00
Eric Banks 623b36fbc4 Add header lines for AC,AF, and AN tags 2012-05-02 15:33:34 -04:00
Guillermo del Angel 429800a192 Fix corner case rounding issue in MathUtils unit test: 10^logFactorial(4)) was 23.999999... which if cast directly yielded 23 - so, do pre-rounding to ensure correct integer result if caller will cast value. 2012-05-02 09:57:06 -04:00
Guillermo del Angel 76a95fdedf Full implementation of multiallelic exact model for pools. Still super-linear so not useable at scale but it should be a gold standard to compare to. Unit tests are not exhaustive yet, will be expanded to provide better test coverage. Small inconsequential optimization in MathUtils: we're already caching log10(factorial(n)) for large n, so might as well use the cached values to compute binomial and multinomial coefficients instead of the log-gamma approximation which is more expensive (doesn't seem to save much time either in PoolCaller nor in UG though). 2012-05-02 09:24:28 -04:00
Joel Thibault 4d732fa586 Move all MongoDB files into private/java/src/org/broadinstitute/sting/mongodb 2012-05-01 18:23:51 -04:00
Eric Banks 619a69a5f1 As promised in the release notes for 1.6, I am removing the old deprecated genotyping framework revolving around the misordering of alleles and have moved the fixed version in its place in preparation for release 1.7 (or 2.0?). 2012-05-01 16:18:24 -04:00
Joel Thibault c255dd5917 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-01 16:10:38 -04:00
Ryan Poplin 51af61b5d7 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-05-01 16:07:23 -04:00
Ryan Poplin fc55dcec3c Unfortunately the reverse trimming of alleles still doesn't work with mixed records in some corner cases. Turning it off for now. 2012-05-01 16:02:36 -04:00
Ryan Poplin 20a0078f23 Merging active regions across shard boundries if they are contiguous, have the same active status and don't grow too big. 2012-05-01 15:51:36 -04:00
Eric Banks 0f3af9555b Adding an option to SelectVariants which allows the user to re-genotype through the exact model (if PLs are present) the samples in order to recalculate the QUAL and genotypes. This is really the correct way to select a subset of samples, especially when originally called from low coverage data. Also added integration test to cover this case. 2012-05-01 14:58:06 -04:00
Joel Thibault aa4d41cce0 Minor cleanup before push 2012-05-01 14:16:44 -04:00
Joel Thibault b101b9c30b Add Mongo switch 2012-05-01 14:00:48 -04:00
Joel Thibault 1b609e9075 Move Mongo to server couchdb 2012-05-01 13:59:47 -04:00
Joel Thibault fd57d27f45 Move MongoDB connection handling to a separate class 2012-05-01 13:59:37 -04:00
Joel Thibault db3cd1abd5 Use 2 MongoDB collections (tables): one for INFO/attributes, one for samples/genotypes. 2012-05-01 13:57:23 -04:00
Joel Thibault 04e1be9106 Better handling of Mongo errors + exceptions 2012-05-01 13:57:23 -04:00
Joel Thibault ca737479cf Query for stop locations because we don't have that information in the reference 2012-05-01 13:57:23 -04:00
Joel Thibault 1cda87a4ad Set ROD priority list to input 2012-05-01 13:57:23 -04:00
Joel Thibault a7fe847faf Set the priority list and don't bother combining if not needed 2012-05-01 13:57:23 -04:00
Joel Thibault f739305f43 Combine the variants found at a location 2012-05-01 13:57:23 -04:00
Joel Thibault 020f884d5a Use new key of source ROD plus alleles 2012-05-01 13:57:23 -04:00
Joel Thibault 221ce9c3d6 Add alleles to the primary key 2012-05-01 13:57:23 -04:00
Joel Thibault 3198ce5471 Can have multiple variants at a location 2012-05-01 13:57:22 -04:00
Joel Thibault 11ed8e61c9 Add referenceBaseForIndel to the Mongo VariantContext objects 2012-05-01 13:53:44 -04:00
Joel Thibault 7ed0ee7ed0 Skip locations with no genotypes instead of throwing a NPE 2012-05-01 13:53:44 -04:00
Joel Thibault 4bdfeacdaa Handle multiple samples/genotypes per location
TODO: sample selection
2012-05-01 13:53:43 -04:00
Joel Thibault 1f7c628796 Insert the ROD filename into MongoDB as part of the primary key 2012-05-01 13:53:43 -04:00
Joel Thibault bb8a6e9b0a Initial test of write and read from MongoDB 2012-05-01 13:53:43 -04:00
David Roazen c0084c741b Pilot BCF2 Implementation: Checkpointing the code
* Not working yet, still very much a work-in-progress with lots of placeholders
* Needed to check this in to enable possible collaboration, since it's
  going slower than anticipated and the conference deadline looms.
2012-05-01 12:23:10 -04:00
Christopher Hartl 7d029b9a28 Merge branch 'master' of ssh://ni.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-30 12:16:30 -04:00
Christopher Hartl 944a7d815e Bringing VQSRV3 up to date. Lots of new features (un-classifying the worst-performing training sites, treating the x% best/worst sites as postive/negative points, ability to pass in a monomorphic track to see ROC curves output). Minor changes to AlleleBalance: weighted average was incorrectly specified (using logscale actually biased the average towards the AB of low-quality genotypes), and breaking out AB by het, hom, and diploid to bring it in line with some (private) changes to the indel likelihood model that (correctly) computes these values for indels. 2012-04-28 11:31:03 -04:00
Ryan Poplin 54a9bc2da2 Bug fix in reverse trim alleles for the case of mixed records that become non-mixed after subsetting the alleles. 2012-04-28 09:12:26 -04:00
Ryan Poplin e332aeaf70 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-27 16:21:21 -04:00
Ryan Poplin 2b5dd28550 Bug fix in reverse trim alleles for the case of mixed records. 2012-04-27 16:21:02 -04:00
Mauricio Carneiro 1db2d1ba82 Do not add the first and last 4 cycles to the recalibration tables. 2012-04-27 15:18:07 -04:00
Mauricio Carneiro 08dbd756f3 Quick QC walkers to look at the error profile of indels in the read 2012-04-27 15:18:07 -04:00
Guillermo del Angel 730208133b Several fixes and improvements to Pool caller with ancillary test functions (not done yet):
a) Utility class called Probability Vector that holds a log-probability vector and has the ability to clip ends that deviate largely from max value.
b) Used this class to hold site error model, since likelihoods of error model away from peak are so far down that it's not worth computing with them and just wastes time.
c) Expand unit tests and add an exhaustive test for ErrorModel class.
d) Corrected major math bug in ErrorModel uncovered by exhaustive test: log(e^x) is NOT x if log's base = 10.
e) Refactored utility functions that created artificial pileups for testing into separate class ArtificialPileupTestProvider. Right now functionality is limited (one artificial contig of 10 bp), can only specify pileups in one position with a given number of matches and mismatches to ref) but functionality will be expanded in future to cover more test cases.
f) Use this utility class for IndelGenotypeLikelihoods unit test and for PoolGenotypeLikelihoods unit test (the latter testing functionality still not done).
g) Linearized implementation of biallelic exact model (very simple approach, similar to diploid exact model, just abort if we're past the max value of AC distribution and below a threshold). Still need to add unit tests for this and to expand to multiallelic model.
h) Update integration test md5's due to minor differences stemming from linearized exact model and better error model math
2012-04-27 14:41:17 -04:00
Eric Banks 0439047269 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-27 10:49:45 -04:00
Eric Banks 05b44dd017 The genotypeCounts array wasn't always being initialized before it was accessed, leading to a NPE (which got caught and thrown as a JEXL expression when used in selection). Added unit test to cover all genotype count methods. 2012-04-27 10:49:36 -04:00
Khalid Shakir 9801dd114f Bug fix for: https://getsatisfaction.com/gsa/topics/problem_with_indelrealigner_and_l_unmapped
The GATK -L unmapped is for GenomeLocs with SAMRecord.NO_ALIGNMENT_REFERENCE_NAME, not SAMRecord.getReadUnmappedFlag()
Previously unmapped flag reads in the last bin were being printed while also seeking for the reads without a reference contig.
2012-04-27 09:58:38 -04:00
Guillermo del Angel 972d6531b6 Corner case fix for indel GL computation: sometimes (depending on surrounding context) reads which are not informative of two candidate haplotypes end up having marginally higher likelihoods with one haplotype as opposed to another, depending on uncertainty on alignments in surrounding regions. So, a sample whose GL is -0.0001,-0.0005,-0.001 may have its genotype set to 1/1 due to this statistical noise. We already have a tolerance comparing max(gl)-min(gl) to avoid genotyping, so this tolerance is now increased from 0.001 to 0.1 (equivalent to 1 PL unit) to avoid genotyping a sample if all PLs are within this threshold. Changed 2 integration test md5s that hit this case. 2012-04-26 10:15:26 -04:00
Laurent Francioli 219b0a128b PED support for ChromosomeCounts annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:50:04 -04:00
Laurent Francioli 19d5213d5a Added function to get founders IDs in SampleDB
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:49:36 -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
Mauricio Carneiro 82b4798913 CountBasesWalker -- a quick QC walker. 2012-04-24 17:20:30 -04:00
Mauricio Carneiro e440d0ce69 BQSR triage #4
* fixed queue script plot file names
   * updated the ReadGroupCovariate to use the platform unit instead of sample + lane.
   * fixed plotting of marginalized reported qualities
2012-04-24 17:19:54 -04:00
Eric Banks d6277b70d8 Forgot to consider the optimized case in hasAllele 2012-04-24 11:32:28 -04:00
Eric Banks 91bad244d5 Using a VCF whose ALT is the reference in GGA mode is a User Error 2012-04-24 11:08:37 -04:00
Eric Banks 74ad008163 Adding VariantContext.hasAlternateAllele functionality 2012-04-24 11:07:46 -04:00
Eric Banks 66f3315548 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-24 09:39:55 -04:00
Eric Banks bcb93dda5f Fixing docs (rank sum test values are not phred-scaled) 2012-04-24 09:39:42 -04:00
Mauricio Carneiro e39a59594a BQSR triage and test routines
* updated BQSR queue script for faster turnaround
   * implemented plot generation for scatter/gatherered runs
   * adjusted output file names to be cooperative with the queue script
   * added the recalibration report file to the argument table in the report
   * added ReadCovariates unit test -- guarantees that all the covariates are being generated for every base in the read
   * added RecalibrationReport unit test -- guarantees the integrity of the delta tables
2012-04-23 11:23:00 -04:00
Eric Banks a733723439 Merged bug fix from Stable into Unstable 2012-04-23 10:30:30 -04:00
Eric Banks 2761da975e Handle null VCs (which can arise when indels are present in the file) 2012-04-23 10:30:00 -04:00
Eric Banks 63aa79df82 Slightly better error message 2012-04-23 09:37:28 -04:00
Eric Banks 7b5fbf9567 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-23 09:34:08 -04:00
Eric Banks 4edb005411 Catch poorly formatted PL/GL fields 2012-04-23 09:33:50 -04:00
Ryan Poplin 35bb55f562 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-22 13:23:36 -04:00
Ryan Poplin 18e4532d10 Turning down the amount of assembly graph pruning slightly in the case of low coverage. 2012-04-22 13:23:24 -04:00
Eric Banks 1f23d99dfa If we are subsetting alleles in the UG (either because there were too many or because some were not polymorphic), then we may need to trim the alleles (because the original VariantContext may have had to pad at the end). Thanks to Ryan for reporting this. Only one of the integration tests had even partially covered this case, so I added one that did. 2012-04-20 17:00:05 -04:00
Eric Banks 4b81c75642 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-20 14:30:19 -04:00
Eric Banks f1c5510ec0 When running SelectVariants with the excludeNonVariants option, remove alleles from the ALT field that are no longer polymorphic. 2012-04-20 14:30:04 -04:00
Ryan Poplin a1596791af Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-20 14:03:04 -04:00
Ryan Poplin a57295eb75 Fixing a bug when breaking up active regions where the resulting regions would overlap by one base. Adding quality score manipulation from the UG into the haplotype caller (qual capped by mapping quality, min qual threshold). 2012-04-20 14:02:55 -04:00
Guillermo del Angel de68363c23 Removed experimental feature (aka hack) that was meant for 1000G consensus but remained in VQSR data manager - QD was being scaled by indel length. There's no evidence any more that QD is length-dependent, neither in CEU trio data nor in latest 1000G P2 calls 2012-04-20 10:58:34 -04:00
Guillermo del Angel d2488dfb81 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-19 19:40:03 -04:00
Guillermo del Angel c44c7b9a97 Restored optimization in Pair HMM only to compute HMM matrices starting in index where haplotypes start to diverge - saves about 15-20% of runtime which is what we lost by disabling banding in latest version, so runtime should be now about the same as what it was before refactoring. Output is bit-true to previous commit 2012-04-19 19:39:43 -04:00
Mauricio Carneiro 0f8c77391d BQSR bug triage #3
* fixed context covariate famous "off by one" error
   * reduced maximum quality score to Q50 (following Eric/Ryan's suggestion)
   * remove context downsampling in BQSR R script
2012-04-19 17:31:04 -04:00
Khalid Shakir df5dd841af AC strat now checks if evals will be merged before throwing an error on multiple eval files.
Minor tweaks to WGP script based on new recal VCF format.
2012-04-19 16:08:55 -04:00
Guillermo del Angel 1ae2ab5b63 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-19 12:50:29 -04:00
Guillermo del Angel 0e6e0cb907 Merging bug fixes 2012-04-19 12:49:30 -04:00
Eric Banks 79272c5e15 Thanks to Menachem for pointing out that the docs for genotyping_mode and output_mode were the same (and unclear). Fixed. 2012-04-19 12:48:09 -04:00
Guillermo del Angel 02ff930f6a My changes 2012-04-19 12:45:18 -04:00
Eric Banks 2485cef5b8 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-19 11:46:06 -04:00
Eric Banks 76a6e37f4f Don't output callability metrics by default anymore; one can still have them output to the 'metrics' file (which is now @Hidden because they are really for GSA use). Added a TODO to move UG from @By reference to reads and rods once LIBS is cleaned up. 2012-04-19 11:45:56 -04:00
Ryan Poplin 1ea4e48a27 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-19 11:32:32 -04:00
Ryan Poplin 11001ab9a2 Adding option to HaplotypeCaller to genotype the events on the chosen haplotypes as independent events. The filtered reads are now kept around so they can be passed to the variant annotations. Unfortunately the filtered reads aren't assigned a likelihood yet so they are all thrown in the Allele.NO_CALL bin. 2012-04-19 11:32:10 -04:00
Mauricio Carneiro eb22cd7222 Unit test to guarantee BQSR sequential calculation accuracy
This test brings together the old and the new BQSR, building a recalibration table using the two separate frameworks and performing the recalibration calculation using the two different frameworks for 10,000+ bases and asserting that the calculations match in every case.
2012-04-19 09:33:40 -04:00
Mauricio Carneiro 68d0211fa1 Improved BQSR plotting and some new parameters
* Refactored CycleCovariate to be a fragment covariate instead of a per read covariate
   * Refactored the CycleCovariateUnitTest to test the pairing information
   * Updated BQSR Integration tests accordingly
   * Made quantization levels parameter not hidden anymore
   * Added hidden option to keep intermediate plotting files for debug purposes (they're automatically deleted)
   * Added hidden option not to generate the plots automatically (important for scatter/gathering)
2012-04-19 09:31:41 -04:00
Guillermo del Angel 143e92b797 Rebasing 2012-04-18 20:05:43 -04:00
Guillermo del Angel 82efd4457e Revert some bad merge changes 2012-04-18 16:35:09 -04:00
Guillermo del Angel 31c394d588 Resolve merge conflicts 2012-04-18 16:25:03 -04:00