Commit Graph

297 Commits (7af003666d19227e02ac03c7d931fffece68d196)

Author SHA1 Message Date
aaron f4cfb0f990 The first step in integrating Jim's tree based index scheme:
- changed to a better method for getting headers from Codecs
- some removal of old commented out code in the GATKAgrumentCollection
- changes for the rename of FeatureReader to FeatureSource
- removed the old Beagle ROD
- cleaned up some of the code in SampleUtils

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3826 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-19 04:49:27 +00:00
delangel 55b756f1cc First step in major cleanup/redo of VCF functionality. Specifically, now:
a) VCF track name can work again with 3.3 or 4.0 VCF's when specifying -B name,VCF,file. Code will read header and parse automatically the version. 
b) Old VCF codec is deprecated. Reader goes now direct from parsing VCF lines into producing VariantContext objects, with no intermediate VCF records. If anyone can't resist the urge to still input files using the old method, a new VCF3Codec is in place with the old code, but it will be eventually deleted.
c) VCF headers and VCF info fields no longer keep track of the version. They are parsed into an internal representation and will be output only in VCF4.0 format.
d) As a consequence, the existing GATK bug where files are produced with VCF4 body but VCF3.3 headers is solved.
e) Several VCF 4.0 writer bugs are now solved.
f) Integration test MD5's are changed, mostly because of corrected VCF4.0 headers and because validation data mostly uses now VCF4.0.
g) Several VCF files in the ValidationData/ directory have been converted to VCF 4.0 format. I kept the old versions, and the new versions have a .vcf4 extension.

Pending issues:
a) We are still not dealing with indels consistently or correctly when representing them. This will be a second part of the changes.
b) The VCF writer doesn't use VCFRecord but it does still use a lot of leftovers like VCFGenotypeEncoding, VCFGenotypeRecord, etc. This needs to be simplified and cleaned.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3813 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-16 22:49:16 +00:00
chartl 75bea4881a Modified SampleFilter to allow for multiple samples to be given. AminoAcidTransition now turns on when you give VariantEval the right commands.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3812 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-16 21:27:32 +00:00
ebanks af23762778 Removing more references to VCFRecord
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3789 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-14 11:54:23 +00:00
ebanks 460283f6d2 No more manually converting VariantContexts to VCFRecords. You should be utilizing VCs and not VCFRecords.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3787 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-14 05:21:28 +00:00
ebanks 6b5c88d4d6 The GATK no longer writes vcf3.3; welcome to the world of vcf4.0. Needed to fix a few output bugs to get this to work, but it's looking great. Much more still to come. Guillermo: hopefully this doesn't break your local build too badly.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3786 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-14 04:56:58 +00:00
chartl 9d2a485532 Update to AminoAcidTransition eval module
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3783 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-13 17:12:03 +00:00
ebanks 6442dabf94 Deleting/archiving as instructed
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3779 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-13 15:23:50 +00:00
ebanks 221e01fb27 deleting/archiving as instructed
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3765 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-12 16:59:45 +00:00
aaron 3347d1ca7c part one of combining format and info header lines code into a single abstract class for Mark; plus some 'm' removals from access methods for Eric. Adding fixes for CombineVariants next.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3719 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-05 05:57:58 +00:00
delangel b6bdd61283 a) Fix bug when multi-base reference is homopolymeric when writing a VCF4.0 variant context: computation of number of trailing bases was incorrect and we ended up with incorrect position.
b) Updated VCF4WriterTestWalker to take either VCF3 or VCF4 as inputs (this walker can also be used to convert from 3.3 to 4.0).
 


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3711 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-02 15:19:42 +00:00
hanna 4995950d04 IndexedFastaSequenceFile is now in Picard; transitioning to that implementation.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3701 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-01 04:40:31 +00:00
hanna c9d5345150 Redo StratifiedAlignmentContext to use ReadBackedPileup's stratification options.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3699 348d0f76-0448-11de-a6fe-93d51630548a
2010-07-01 02:46:05 +00:00
chartl 610cc7ae2b Cool package trick Kiran showed me. VariantEvaluator no longer public, AAT specifies the core package even though it lives in oneoffs. Disabled so integration tests pass.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3677 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-29 22:42:04 +00:00
chartl 9ac13b8f5d Name and body change for this module to reflect local code.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3675 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-29 21:45:26 +00:00
aaron 844cb2ed33 fixing a bug that Eric found with RODs for reads, where some records could be omitted. Sorry Eric!
Also putting more tolerance into the timing on the tibble index tests (that check to make sure we're deleting out of date indexes, and not deleting perfectly good indexes).  It seems that some of the farm nodes aren't great with a stopwatch.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3674 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-29 21:38:55 +00:00
chartl 101c27294d Comment this guy out so we build again. (Hate it when my repository goes all funky.)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3673 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-29 21:16:33 +00:00
chartl 3017f82550 Initial commit of items for analyzing amino acid transitions in variant eval. Blew up my subversion by coding locally while i did not have internet. I hope this doesn't bust any integrationtests since I changed no existing code but...who knows. Crossing my fingers.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3672 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-29 20:57:18 +00:00
delangel 3ca2b7374b Fixes to better deal with the "Type" and "Number" field in the INFO and FORMAT header lines in VCF4.0. We now record these fields and provide appropriate conversions. This is the first version that passes fully the VCF validator.
Also, moved the flag indicating VCF4.0 to the VCFWriter constructor.

 


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3669 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-29 16:43:00 +00:00
delangel ed71e53dd4 1) Initial complete version of VCF4 writer. There are still issues (see below) but at least this version is fully functional. It incorporates getting rid of intermediate VCFRecord so we now operate from VariantContext objects directly to VCF 4.0 output.
See VCF4WriterTestWalker for usage example: it just amounts to adding
vcfWriter.add(vc,ref.getBases()) in walker.

add() method in VCFWriter is polymorphic and can also take a VCFRecord, lthough eventually this should be obsolete.
addRecord is still supported so all backward compatibility is maintained.

Resulting VCF4.0 are still not perfect, so additional changes are in progress. Specifically:
a) INFO codes of length 0 (e.g. HM, DB) are not emitted correctly (they should emit just "HM" but now they emit "HM=1").
b) Genotype values that are specified as Integer in header are ignored in type and are printed out as Doubles.

Both issues should be corrected with better header parsing.

2) Check in ability of Beagle to mask an additional percentage of genotype likelihoods (0 by default), for testing purposes.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3664 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-28 23:54:38 +00:00
chartl 20f5fdbcf7 Changes to MVC to make the the header of its output VCF compliant with spec (give expected # of values for info field annotations)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3660 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-28 18:33:23 +00:00
aaron 682f9b46c6 Two fixes together:
1) Some improvements to the VCF4 parsing, including disabling validation.
2) Reimplemented RefSeq in the new Tribble-style rod system.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3630 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-24 22:17:03 +00:00
chartl 75d4736600 Committing changes to comp overlap for indels. Passes all integration tests; minor changes to MVC walker.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3618 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-23 15:49:13 +00:00
aaron a6d3e4bd47 Add code to allow reference alleles with 'N' in VariantContext, but not in the alternate allele(s). Also more updates to the VCF 4 code (fixed parsing for files without genotypes).
This check-in will temperarly break the build (I need to see if Bamboo is correctly returning the log file for the failed builds).  

Will be fixed once Bamboo starts building.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3609 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-22 18:26:37 +00:00
aaron 32f324a009 incremental changes to the VCF4 codec, including allele clipping down to the minimum reference allele; adding unit testing for certain aspects of the parsing. Not ready for prime-time yet.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3604 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-22 06:31:05 +00:00
hanna f18ac069e2 A refactoring / unification of ReadBackedPileup and ReadBackedExtendedEventPileup.
Provides a cleaner interface with extended events inheriting all of the basic RBP
functionality.  Implementation is still slightly messy, but should allow users to
provide separate implementations of methods for sample split pileups and unsplit
pileups for efficiency's sake.
Methods not covered by unit/integration tests have not been sufficiently tested yet.
Unit tests will follow this week.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3597 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-20 04:42:26 +00:00
chartl f44d8b150f Mendelian Violation Classifier now filters violations on the fly via command line arguments; and closes unterminated homozygous regions at the end of a chromosome (so we see arms falling off in the file, rather than in the log)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3592 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-18 19:32:24 +00:00
ebanks b75ded61b8 Removing obsolete rod; no longer needed given previous addition to SampleUtils.
JIRA GSA-318


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3572 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-16 20:03:14 +00:00
weisburd 1e42984a16 Improved buffer-size arg handling
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3553 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-14 19:59:15 +00:00
kiran 804facb0cc Removing these utilities as part of a hostage negotation with Matt. Can I have my journal club paper now?!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3539 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-11 21:41:29 +00:00
weisburd 338bb9adf4 CommandLineProgram for measuring java I/O speeds for large plain-text or gzipped files.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3532 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-10 21:34:37 +00:00
chartl 20167fd411 Final changes to MVC -- associates variants with regions of homozygosity in child and parents, corrects for genotype errors, and prints out a separate file with informationf or each region of homozygosity.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3521 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-09 18:05:37 +00:00
ebanks 9b2fcc4711 Refactoring of the annotation system:
1. VA is now a ROD walker so it no longer requires reads (needs a little more testing)
2. Annotations can now represent multiple INFO fields (i.e. sets of key/value pairs)
3. The chromosome count annotations have been pulled out of UG and the VCF writer code and into VA where they belong.  Fixed the headers too.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3513 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-09 17:05:51 +00:00
chartl 8f9e3e8ad7 Commit for Kiran; but this is now working, barring little exceptions that I've yet to run across...
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3511 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-09 14:21:19 +00:00
chartl 736098b58d A quick commit before running home. This is a re-factored version of the OppositeHomozygoteClassifier which will work with deNovo violations as well. Some code still needs to be migrated from OHC which is wy that walker isn't yet deleted. This'll be up and running tonight.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3502 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-08 20:47:01 +00:00
chartl 933133ee28 Initial commit of the opposite homozygote classifier. Currently does the following, given a trio vcf:
+ Identifies opposite homozygote sites
 + Identifies the parent from whom it is expected that a null allele was inherited (or whether it was a putative genotype error; e.g. mom=homref, dad=homref, child=homvar)
 + Labels each opposite homozygote with its homozygous region in the child (e.g. region 1, region 2)
 + Labels each opposite homozygote with the size of the homozygous region in which it was found, the number of child homozygotes in the region, and the number of opposite homozygote violations within that region

To come:
 + Classification of sites as likely tri-allelic


Note that this is very experimental



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3498 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-08 03:56:07 +00:00
delangel ef47a69c50 a) First fully functional (sort of) version of walker that parses Beagle imputation output files and produce a vcf with imputed genotypes.
More doc/info to follow shortly. Issues still to be solved:
a) Walker changes all genotypes based on Beagle data, but annotations on the original VCF are unchanged. They should in theory be recomputed based on new genotypes.
b) Current implementation is ugly, dirty unwieldy and will necessitate a refactoring soon so I can keep my pride. Most aesthetically affronting issue right now is that we read the full Beagle files at initialization and keep them in memory, but a more delicate implementation would just read from files on a marker by marker basis. Issue that currently prevents this is that BufferedReader() instances don't seem to play nice when called from the map() function.



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3488 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-04 20:37:25 +00:00
depristo b811e61ae1 Optimized, nearly complete VCF4 reader 2-4x faster than the previous implementation, along with a VCF4 reader performance testing walker that can read 3/4 files, useful for benchmarking
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3487 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-04 18:11:38 +00:00
aaron 0b03e28b60 updating the tribble library to include the reference dictionary reading / writing. We now check the dictionaries of any tracks that have them against the reference (all new tribble tracks and out-of-date tracks will have this). Also renamed some classes to be more reflective of their function.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3485 348d0f76-0448-11de-a6fe-93d51630548a
2010-06-04 06:34:26 +00:00
ebanks ffeb3fd80d Thanks to Guillermo, I found a bug in the Unified Genotyper output: GL was posteriors instead of likelihoods. Not a huge deal because the
priors were flat, but fixed nonetheless.
Also, needed to update Tribble.
Minor updates to the Beagle input maker.


git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3461 348d0f76-0448-11de-a6fe-93d51630548a
2010-05-28 19:28:26 +00:00
aaron 871cf0f4f6 Call out ROD types by there record type, instead of the codec type (which was clumsy). So instead of:
@Requires(value={},referenceMetaData=@RMD(name="eval",type= VCFCodec.class))

you'd say:

@Requires(value={},referenceMetaData=@RMD(name="eval",type= VCFRecord.class))

Which is more in-line with what was done before.  All instances in the existing codebase should be switched over.



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2010-05-28 14:52:44 +00:00
chartl ff4a0764df Read error rate is now parallelizable
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3447 348d0f76-0448-11de-a6fe-93d51630548a
2010-05-27 19:00:09 +00:00
delangel 3873dccb35 First fully functional (though preliminary) version of walker that takes an input VCF and outputs a Beagle .bgl file that can be used for missing genotype calls/haplotype imputation. For now, only supported input format is likelihood format for unrelated individuals.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3444 348d0f76-0448-11de-a6fe-93d51630548a
2010-05-26 21:03:23 +00:00
chartl f9efc1248c VariantEvalWalker now takes indels if you throw the -dels flag. IndelLengthHistogram appears to be working properly, it is turned off by default (as it is experimental) but you can turn it on in your own repository.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3443 348d0f76-0448-11de-a6fe-93d51630548a
2010-05-26 20:03:14 +00:00
chartl 88a06ad81f Changes to Depth of Coverage:
- For speedup in large number of samples, base counts are done on a per read group level, then
   merged into counts on larger partitions (samples, libraries, etc)
   + passed all integration tests before next item
- Added additional summary item, a coverage threshold. Set by (possibly multiple) -ct flags,
   the summary outputs will have columns for "%_bases_covered_to_X"; both per sample, and
   per sample per interval summary files are effected (thus md5s changed for these)

NOTE:

This is the last revision that will include the per-gene summary files. Once DesignFileGenerator is sufficiently general, and has integration tests, it will be moved to core and the per-gene summary from Depth of Coverage will be retired.



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2010-05-26 03:39:22 +00:00
hanna a40e64e47b A downsampling validator. Compares the generated pileup passed in from the alignment context to the reads,
passed in as a Tribble SAM text feature.  If the generated pileup contains a valid set of reads according to
the downsampling rules, the test passes.


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2010-05-23 21:49:54 +00:00
delangel 355396109b Bug fix to avoid build failure (class changed under me??)
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2010-05-21 18:48:56 +00:00
delangel 1753d07b02 Added AnnotationByAlleleFrequencyWalker - walker takes an input vcf, a reference vcf and a list of annotations (with the -A argument). For each site present in both VCF's, it outputs the given annotations into the screen as well as allele frequency. Since HapMap vcf reference doesn't include AF in annotations, it computes it from Chromosome, Het and HomVar counts.
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2010-05-21 18:31:34 +00:00
depristo a10fca0d5c Genotyper now is using bytes not chars. Passes all tests.
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2010-05-20 21:02:44 +00:00
depristo 1ab00e5895 Retiring multi-sample genotyper
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2010-05-20 14:10:56 +00:00
depristo 727822adb4 BaseUtils has more clear distinction between byte and char routines. All char routines are @Depreciated now. Please use bytes. Better organization of reverse(), now in Utils not BaseUtils.
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2010-05-20 14:05:13 +00:00
depristo 8a725b6c93 Restructuring of ReferenceContext and ReadWalkers to accept a ReferenceContext. Now ReferenceContext is byte[] backed not char[]. Please no more chars for the reference. All of the tests pass now. Coming check-ins are going to clean up the char / byte problems in the GATK
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2010-05-19 23:27:55 +00:00
aaron 02cc1afdc8 remove RodBed and all it's dependencies.
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2010-05-19 19:12:30 +00:00
chartl ffb1b46166 Added a GCCalculatorWalker for a oneoff analysis for Mark Daly (GC content of agilent 1.1 targets)
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2010-05-19 18:49:51 +00:00
chartl b7d21627ab Changes to DepthOfCoverage (JIRA items) and added back an integration test to cover it. Alterations to the design file generator to output all transcripts (rather than choosing one at random).
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2010-05-17 17:23:00 +00:00
aaron 2c55ac1374 fixes for parallel processing problems with Tribble, a small bug in the resource pool, and some more documentation.
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2010-05-12 06:13:26 +00:00
kiran aec5f7b630 Can now threshold results based on minimum base and/or mapping quality.
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2010-05-10 19:58:07 +00:00
kiran 13fd182b7c For dealing with slightly malformatted BAMs - mark every alignment as primary, or in the case of some BAM files from UWash, supply the sample information for each read group.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3340 348d0f76-0448-11de-a6fe-93d51630548a
2010-05-10 15:17:05 +00:00
kiran 98718d0faa Computes the error rate per cycle
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2010-05-10 14:50:22 +00:00
aaron 7d2df3f511 example windowed ROD walker for Kristian, and updates to Tribble
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2010-05-07 17:12:50 +00:00
aaron a68f3b2e9c VCF moved over to tribble.
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2010-05-05 17:28:48 +00:00
chartl 617542853f Walker that can be used with refGene and a TCGA bed file to annotate intervals in an interval list with the genes and exons they overlap.
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2010-05-05 02:55:01 +00:00
aaron f497213933 DbSNP moved over to tribble
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2010-05-03 06:02:35 +00:00
ebanks 1714c322c2 Reorg of UG args; checking in first before upcoming changes that will break integration tests.
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2010-04-30 14:48:46 +00:00
aaron 7fbfd34315 adding the GELI ROD validation
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2010-04-29 21:43:00 +00:00
aaron 68bdac254b a utility walker for validating changes made to the underlying ROD system in the transistion to Tribble.
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2010-04-26 05:21:24 +00:00
chartl 121163dd49 interim commit
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2010-04-22 13:44:45 +00:00
ebanks 84ebceb9a6 Fix for Chris: need to use the appropriate conversion method. Added a warning to the adaptor.
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2010-04-22 02:05:10 +00:00
chartl e7334ec11f Checkin for Eric (IndelDBRateWalker is a prelude to a VariantEval module for comparisons for indels)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3234 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-22 00:40:27 +00:00
chartl 84f1ccd6ac Two dumb oneoff walkers written to fix & annotate the Baylor indel calls (which came in sans reference, and without coding/intron annotations).
ERIC -- does the IndelAnnotator (the RefSeq lookup code I stole from IndelGentoyperV2) want to be its own Annotation inside VariantAnnotator? Is Andrey already doing this as part of adding indel calling to UG?



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2010-04-21 14:04:10 +00:00
hanna c1e53d407d The copyright tag that I copied/pasted from a LaTeX document into IntelliJ had
unicode quote characters embedded in it.  These characters were invisible inside
IntelliJ but cause compile warnings for Ryan and Aaron, who for whatever reason
have a different default charset.  Fixed.


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2010-04-20 15:26:32 +00:00
aaron b5f6f54968 Almost done removing any trace of the old Variation and Genotype interfaces.
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2010-04-20 14:52:15 +00:00
hanna 1bc26f69e9 An attempt to cleanup the Utils directory. Email to follow.
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2010-04-19 23:00:08 +00:00
ebanks d73c63a99a Redoing the conversion to VariantContext: instead of walkers passing in a ref allele, they pass in the ref context and the adaptors create the allele. This is the right way of doing it.
Also, adding some more useful integration tests.



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2010-04-19 05:47:17 +00:00
aaron e11ca74eb5 removing some outdated ROD classes (PooledEMSNPROD and SangerSNPROD), removing an out-of-date interface (VariantBackedByBenotype), and moving AnalyzeAnnotationWalker over to VariationContext.
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2010-04-16 18:59:29 +00:00
ebanks d5e5589b8f No longer used
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2010-04-16 17:57:39 +00:00
ebanks e702bea99f Moving VE2 to core; calling it "VariantEval" (one more checkin coming)
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2010-04-15 20:25:47 +00:00
ebanks ac9dc0b4b4 Removing VariantEval (v1); everyone should be using VE2 now. Docs coming ASAP.
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2010-04-15 19:53:02 +00:00
ebanks 3330e254a9 Standardize the dbsnp track name in preparation for case-sensitivity
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2010-04-15 19:41:57 +00:00
ebanks 5f7564bf0a Better naming of output columns
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2010-04-15 18:08:07 +00:00
ebanks 04909fa6ad Removing arbitrary selects
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2010-04-14 17:46:39 +00:00
ebanks f1189bac5a Bug fix: final map call wasn't being triggered (because we returned when ref==null before applying update0)
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2010-04-14 16:58:55 +00:00
ebanks dde092fb61 Added the ability in VE2 to select which eval modules to run, so that you aren't forced to use all of them. You can use --list to list all of the possible modules to run.
Heads up everyone: by default, *no* modules are run.  Please add "-all" to your scripts to maintain the previous behavior.



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2010-04-13 22:15:58 +00:00
ebanks 0b575596f8 Fix for concordance: samples found only in truth no longer kill it.
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2010-04-13 21:33:49 +00:00
rpoplin c2a37e4b5c Variant Quality Score modules in VariantEval2 no longer create huge lists which hold all of the quality scores encountered and instead cast the quality score to an integer and use hash tables. Bug fix for files in which all the quality scores are set to -1.
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2010-04-09 18:36:06 +00:00
chartl 7025f5b51d Added an auxiliary table to DepthOfCoverage, which is the cumulative equivalent of the locus table (got tired of doing the calculation by hand). Also took care of a trailing tab in the per-locus output table.
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2010-04-08 19:37:17 +00:00
aaron 20cc2a85a4 removed the hashmap from Genotype Concordance, moved it into a table
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2010-04-07 21:24:48 +00:00
aaron e55f27b3b1 forgot a file
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2010-04-07 20:51:13 +00:00
depristo 918b746798 More detailed validation output. Fixes for genotyping overflow -- these are temporary and need to be properly resolved
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2010-04-07 16:38:28 +00:00
rpoplin 7b44e6bd55 ApplyVariantClusters now outputs interesting threshold points based on hitting the target novel TiTv
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2010-04-06 19:47:29 +00:00
rpoplin 60c227d67f Added new VE2 module to create a plot of titv ratio by variant quality score
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2010-04-06 15:19:27 +00:00
rpoplin 2d002c56c3 Added histogram of variant quality scores broken out by true positive and false positive calls to the GenotypeConcordance module of VariantEval2
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3123 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-06 13:48:31 +00:00
chartl f7d1b8f5de CoverageStatistics has now replaced DepthOfCoverage -- old DoC is in the archive.
Also, I can't be bothered to fix the spelling of "oldepthofcoverage" to contain the necessary number of D's. Be content that it does, however, contain the requisite number of O's.



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2010-04-01 16:27:23 +00:00
aaron 585cc880a2 changed jexl expressions to jexl names in the VariantEval2 output, fixed integration test, and fixed a problem where a line was getting dropped in CSV output
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3108 348d0f76-0448-11de-a6fe-93d51630548a
2010-04-01 16:23:14 +00:00
aaron 3d3d19a6a7 the last-mile commit for Tribble integration. The system is now ready for Tribble to be turned on, as soon as we've removed any dependencies in the ROD code on interfaces that aren't in the Tribble library (i.e. the Variation or Genotype interface on RODs). All of the walkers should be up to date.
a caveat: for anyone asking for all of the ROD's back from the RefMetaDataTracker (if your not using the facilities to get the track by name), you'll now be getting back a collection of GATKFeature objects.  This object will contain the track name, and a method for getting the underlying object (getUnderlyingObject()), which will be the traditional RodVCF, rodDbSNP, etc.  This layer is needed so we can integrate Tribble tracks (which don't natively have names).  Calls that ask for RODs by name will still get back the traditional reference ordered data objects (RodVCF, rodDbSNP, etc).

Sorry for the inconvenience!  More changes to come, but this is by far the largest (as has the greatest effect on end users).


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2010-03-31 22:39:56 +00:00
chartl dc802aa26f Moved CoverageStatistics to core. This will be (soon) renamed DepthOfCoverage; so please use CoverageStatistics
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3090 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-29 13:32:00 +00:00
aaron 074ec77dcc First go of the new output system for VE2. There are three different report types supported right now (Table, Grep, CSV), which can be
specified with the reportType command line option in VE2.



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2010-03-27 03:59:32 +00:00
ebanks 2373a4618f bug caused by a misprint: context != contexts
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3073 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-25 03:08:24 +00:00
aaron 60dfba997b added some sample annotations to VariantEval2 analysis modules, and some changes to the report system.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3067 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-24 05:40:10 +00:00
depristo 076d21d394 Minor bug workaround in GenotypeConcordance module (see todo). General platform read filter. You can say -rl Platform illumina to remove all SLX reads
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3054 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-22 02:47:09 +00:00
depristo 7b17bcd0af Refactoring a few useful routines for detecting mendelian violations
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3043 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-19 13:19:01 +00:00
ebanks b8e8852b4f Better interface for the Annotator in how it interacts with VariantContext.
Also, added a proof of concept genotype-level annotation (not working yet, almost there).



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2010-03-18 20:41:57 +00:00
ebanks ee0e833616 Some significant changes to the annotator:
1. Annotations can now be "decorated" with any arbitrary interface description - not just standard or experimental.
2. Users can now not only specify specific annotations to use, but also the interface names from #1.  Any number of them can be specified, e.g. -G Standard -G Experimental -A RankSumTest.
3. These same arguments can be used with the Unified Genotyper for when it calls into the Annotator.
4. There are now two types of annotations: those that are applied to the INFO field and those that are applied to specific genotypes (the FORMAT field) in the VCF (however, I haven't implemented any of these latter annotations just yet; coming soon).



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2010-03-18 05:38:32 +00:00
ebanks e367a50e9b Added genotype concordance module. Not at all finished, but needed to give something to Aaron to look at for help in printing the output nicely.
Also misc cleanup and fixes (e.g. perform evalulation even when no comp tracks are provided).



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2010-03-14 19:02:24 +00:00
depristo b39b5edca8 Bug fix in variant eval 2. Preliminary (slow and buggy) support for -XL exclude lists.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2991 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-12 19:23:12 +00:00
depristo 18ba9929f9 notes for eric
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2983 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-11 20:34:54 +00:00
depristo 4f4555c80f PPV and Sensitivity added to validation tool output; support for arbitrary -sample arguments to subset variant contexts by sample
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2978 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-10 22:28:31 +00:00
depristo 486bef9318 Support for validationRate calculation in variant eval 2; better error messages for failed genome loc parsing; tolerance to odd whitespace in plinkrod, and fix for monomorphic sites in vcf2variantcontext.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2976 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-10 16:25:16 +00:00
chartl 0a49dffa8f Row/Column names are now R-friendly
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2966 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-09 19:01:03 +00:00
ebanks 9f3b99c11b Moving UnifiedGenotyper and VariantAnnotator over to VariantContext system.
Removing obsolete genotyping classes.
First stage of removing dependence on old Genotype class.
More changes to come.



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2010-03-09 03:41:07 +00:00
chartl 21bf8b4b93 Odd, what I saw on IntelliJ hadn't saved to sting before committing. Here's the actual change.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2956 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-08 15:54:41 +00:00
chartl cc6a714c09 Handle excess coverage in interval output
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2954 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-08 14:40:05 +00:00
chartl 037ac9c9af Actually calculate base counts by read group when "both" is specified. Modified integration test to cement the now-correct "both" behavior.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2941 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-05 18:31:48 +00:00
chartl 8738c544f1 Minor refactoring of CoverageStatistics to allow simultaneous output of per-sample and per-read group statistics.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2940 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-05 17:06:52 +00:00
depristo 33cefddf55 Better INFO field annotation for Mendel violations
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2937 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-05 15:22:04 +00:00
chartl 706d49d84c Commit for Aaron
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2932 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-04 21:29:07 +00:00
ebanks 0dd65461a1 Various improvements to plink, variant context, and VCF code.
We almost completely support indels. Not yet done with plink stuff.


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2010-03-04 17:58:01 +00:00
chartl 6759acbdef Coverage statistics now fully implements DepthOfCoverage functionality, including the ability to print base counts. Minor changes to BaseUtils to support 'N' and 'D' characters. PickSequenomProbes now has the option to not print the whole window as part of the probe name (e.g. you just see PROJECT_NAME|CHR_POS and not PROJECT_NAME|CHR_POS_CHR_PROBESTART-PROBEND). Full integration tests for CoverageStatistics are forthcoming.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2924 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-04 15:00:02 +00:00
aaron 790d2a7776 adding the initial ROD for Reads support; more convenience methods in ReadMetaDataTracker to come.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2918 348d0f76-0448-11de-a6fe-93d51630548a
2010-03-03 15:56:44 +00:00
chartl cfff486338 This commit is for Kiran
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2898 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 18:18:38 +00:00
chartl 87f8fb7282 Quick commit in advance of Aaron's. Just a bunch of refactoring (private classes separated out, put in proper package). Also support added for coverage by read group rather than sample.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2897 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 16:39:47 +00:00
chartl 496ecc8186 Change in how overall coverage and means are stored in the DOCS object; change from keeping track of sample mean coverage to keeping track of sample total coverage (calculate means at the end)
This is a mid-way commit for Aaron



git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2895 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 15:51:12 +00:00
depristo 9a6b384adb Support for no qual fields in VCF; better support for Mendelian violation calculations
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2893 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-26 00:29:17 +00:00
aaron 246fa28386 RODs for reads phase 2: modified RODRecordList to implement List<ReferenceOrderedDatum> so I could stub it out for testing, added a FlashBackIterator which is needed to prevent the ResourcePool from opening infinity+1 iterators, and some other interfaces to make unit testing much smoother.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2892 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 22:48:55 +00:00
chartl 591102a841 Don't close the output stream if we're printing to stdout
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2891 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 21:50:58 +00:00
chartl 10cc71ceb0 Another midway commit for teh engineerz
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2890 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 21:24:02 +00:00
chartl 3d92e5a737 Initial commit of integration test(s) for CoverageStatistics, currently in progress [midway commit is for Matt]
Modifications to CoverageStatistics - now includes and extends much of the behavior of DepthOfCoverage (per-base output, per-target output).

Additional functionality (coverage without deletions, base counts, by read group instead of by sample) is upcoming.




git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2888 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-25 20:25:07 +00:00
aaron fef1154fc8 starting on RODs for Reads: made RODRecordList implement list<RODatum> (so we can sub in fake lists during testing), and removed unnecessary generic-ness. Removed BrokenRODSimulator, which isn't being used.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2884 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-24 22:11:53 +00:00
chartl 5df37968de Simplification of code segments; slight alteration to per-locus tabulation; added to-do items for cosmetic changes (mostly binning options and settigns)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2882 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-24 05:20:18 +00:00
chartl 1f673e9fab Float the bins with the given lower bound
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2878 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-23 20:48:53 +00:00
chartl 119d449b46 Formatting changes
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2877 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-23 20:43:15 +00:00
chartl 173956927b Summaries generated for firehose from DoC output have been migrated to its own walker to calculate aggregate coverage statistics in a parallelizable and fast way. This is an initial commit, bug-fixing and testing is upcoming.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2876 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-23 18:41:02 +00:00
chartl 0e05a3acb0 Adding depth of coverage features to firehose summary tools
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2860 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-19 19:47:16 +00:00
aaron b1a4e6d840 removing non-ascii characters from my Copyright and from VariantEval2Walker
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2856 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-18 18:54:36 +00:00
depristo a1a3d5fcb0 Support for reading in table of rsIDs -> dbSNP builds to back generate a dbSNP build X from a single file. Very useful indeed. dbSNP -> VC now captures the rsID in the context
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2837 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 22:40:55 +00:00
chartl 04a2784bf7 Initial commit of tools under development for data QC through firehose.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2834 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 19:13:24 +00:00
depristo 5f74fffa02 Massive improvements to VE2 infrastructure. Now supports VCF writing of interesting sites; multiple comp and eval tracks. Eric will be taking it over and expanding functionality over the next few weeks until it's ready to replace VE1
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2832 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-12 15:26:52 +00:00
depristo c66861746a improvements to ve2, including more meaningful mendelian violation counting. Support for VCF emitted interesting sites, annotated according to the evaluations themselves. Basic intergration test for VE2 started
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2819 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-10 16:12:29 +00:00
depristo 934d4b93a2 VariantContext to VCF converter. BeagleROD, and phasing of VCF calls. Integration tests galore :-)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2814 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-09 19:02:25 +00:00
depristo 94f892ad42 VCF->beagle and VCF phasing using beagle input. Appears to work fairly well. VariantContexts now support phased genotypes.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2812 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-09 01:22:05 +00:00
chartl 935e76daa1 Minor changes to oneoff walkers. PlinkRod altered but still commented.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2808 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-08 18:49:56 +00:00
depristo 3b1ab86d11 Added generic interfaces to RefMetaDataTracker to obtain VariantContext objects. More docs. Integration tests for VariantContexts using dbSNP and VCF. At this stage if you use dbSNP or VCF files only in your walkers, please move them over to the VariantContext, it's just nicer. If you've got RODs that implemented the old variation/genotype interfaces, and you want them to work in new walkers, please add an adaptor to VariantContextAdaptors in refdata package. It should be easy and will reduce burden in the long term when those interfaces are retired.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2803 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-06 16:26:06 +00:00
depristo 995d55da81 now uses the new RMDT getVariantContext() functions instead of doing the work itself.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2802 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-06 16:23:06 +00:00
depristo af8c47fc2f Fixing up testVariantContext for integration tests for variant context. Printing of VCs and genotypes now stable using sorting. Cleaned up comments in quality score by strand. RefMetaDataTracker now directly allows walkers to obtain VariantContexts using the simple Collection<VariantContext> getAllVariantContexts(GenomeLoc curLocation, EnumSet<VariantContext.Type> allowedTypes, boolean requireStartHere, boolean takeFirstOnly) function. VCF and dbSNP VariantContexts now officially supported. Other importan types can be added to the adapator system in refdata package. Integration tests later today
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2791 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 15:42:54 +00:00
depristo c6d86da4b8 almost managed to move things around perfectly in move go
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2788 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 14:18:26 +00:00
depristo e0af3bf761 updating back names
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2786 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 13:53:45 +00:00
depristo 777617b6c7 managed to actually move the files too! Damn you svn
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2785 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 13:47:19 +00:00
depristo 8938a4146d moving varianteval2 to it's own dir
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2784 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 13:37:04 +00:00
depristo 69132c81aa Documentation. Plus nicer structure to adaptors. Intermediate checkin before move into core
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2783 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-05 13:33:27 +00:00
depristo 1d86dd7fd1 Interface changes following Matt's advice. VariantContexts are now immutable, and there are special mutable versions, in case you need to change things. AttributedObject now a InferredGeneticContext and package protected. VariantContexts are now named, which makes them easier to use with the rod system
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2780 348d0f76-0448-11de-a6fe-93d51630548a
2010-02-04 20:55:49 +00:00