ff6386c29b
binomial coefficient was in log2, changed to log10.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6052 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:54:55 +00:00
082abfd84f
implementation of the truth allele, different cases for REF , HOMVAR, FILTERED and HET.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6051 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:54:51 +00:00
3f974c62e6
Reorganized init() to check for RODs (reference / truth)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6050 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:54:48 +00:00
6f5a08ddc6
Simple walker to look at SNPs near indels. Didn't need to make this a walker and commit it, but used it as an opportunity to play with GIT in unstable.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6049 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:54:44 +00:00
2e3d6754cd
First implementation of the Error Model.
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Added stratification by lane to ReadBackedPileup.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6046 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:54:33 +00:00
27b1418b84
PSP2 output much better. Good masking of repetitive regions. Flagging of invalid amplicons rather than omission of them, reasons properly given. Kiran doesn't like the trailing comma, but the trailing comma also doesn't like Kiran.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6045 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:54:27 +00:00
9a00d81d57
Is git commit -a different than git commit?
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6043 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:54:19 +00:00
84dd72e6cb
Adding in some read filters, updating MathUtils.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6042 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:54:15 +00:00
4f7a64a798
Fixing broken walker as per GS; adding integration test to cover it.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6040 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:54:04 +00:00
0e057276ae
Changing the default behavior of the IndelRealigner to run without Smith-Waterman. Changed around the integration tests accordingly.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6039 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:53:58 +00:00
df71d5b965
bye bye
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6035 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:53:42 +00:00
9b90e9385d
Putting new association files, some qscripts, and the new pick sequenom probes file under local version control. I notice some dumb emacs backup files, I'll kill those off momentarily. Also minor changes to GenomeLoc (getStartLoc() and getEndLoc() convenience methods)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6034 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:53:37 +00:00
53c089949e
Added integration test for -n parameter
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6032 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 22:53:22 +00:00
745935ffc2
No longer used - instead see the ConstrainedMateFixingManager class
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6030 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 19:38:17 +00:00
b35df9a0f7
Removing unnecessary String.format calls
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6028 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 15:30:52 +00:00
b7a1beff3c
Bug fixes and rewrite of logic of several parts in SelectVariants:
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a) If we were selecting SNPs or Indels and there was one of each at the same location, only whichever one was pulled first was processed.
b) Fixed logic error when selecting Mendelian Violations: if that option was used it wasn't possible to combine with other options.
c) Fixed logic error when using -disc option: you shouldn't parse genotypes to check whether a site is present or not because a vcf can be sites-only and this is slow.
d) Made -disc option work in the same way as other options: variants are now selected from "variant" track all the time, and variants which are not in disc track are kept. Inverse logic (keep disc variants not present in "variant") is confusing and prevents users from combining with different options.
With these changes it is now possible to ask for example "Give me all indels which are Mendelian Violations, not in dbsnp and present in these samples" which was not possible before.
Integration tests covering the above are forthcoming.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6027 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-22 14:05:00 +00:00
a1f8aa90c0
Added an integration test showing how to use LSF C API to get LSF parameters.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6025 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-21 22:54:55 +00:00
8e149cc52f
Fixing a silly bug of mine: when a realignment target begins at position 1 of a contig, it was possible to have some reads get emitted out of order (triggering an exception in the SAMFileWriter). This is fixed by moving around some parentheses. Tim, if you are reading this: feel free to take this fix in whenever it's convenient. I.e. it's not critical as the only user who has been hit by it has a reference with over 130K short contigs. Committing in SVN so that it gets incorporated immediately (and I can respond on GS now).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6024 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-21 21:42:38 +00:00
6dd41c8489
Nway writer takes another argument: whether to create index on the fly. Realigner in NWayOut mode currently will ALWAYS create index on the fly as there seems to be no clean way to extract the requested value from argument collection in the presence of a different @Output stream.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6023 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-21 17:26:04 +00:00
78461bac1e
Default logic (and name) has changed. Now somatic mode is default one. In order to run in single-sample (unpaired) mode, one has to use (hidden) --unpaired option.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6022 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-21 17:08:41 +00:00
c5de06a641
Fixing up the RefSeqCodec so a bad entry in RefSeq (some transcripts are odd and have a negative length which may signify something special (?) ) doesn't cause failure, but issues a warning instead. Integration tests pass.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6021 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-21 14:07:58 +00:00
7c322780d3
Nway out fixed: in this mode a special nwayout sam writer is instantiated and passed to constrained manager. All the dispatching of the reads into separate output sam streams is taken care by that writer, so no other special processing is needed at the realigner/manager level.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6020 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-20 19:35:26 +00:00
600a6a43a6
Reverting previous commit, as promised.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6019 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-20 16:30:19 +00:00
ee18c9b0c2
Temporary commit to please those in 320: re-support the -knownsOnly argument (@Hidden). This will be reverted in a sec.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6018 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-20 16:28:58 +00:00
e8738f95c5
This warning message scares too many people.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6016 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-20 13:43:16 +00:00
4c6d0e6143
Added stratification by discrete allele count, just like AF, but requiring genotypes so it can be exact. Added docs on wiki, and integrationtest using Kiran's very nice fundamental VCF
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VariantEvalWalker now passes a pointer to itself to the Stratefication setVariantEvalWalker (and assoc. get method) so that stratefications can look at VEWalker variables to obtain information necessary for their calculations, like the list of eval samples. This is a better interface, in my opinion, than the current approach of extending the base abstract Stratefication to include an initialize function that has all arguments necessarily for any Strat.
JEXL expressions now provide access to the VariantContext vc object itself, so you can write JEXL's that directly use VariantContext and associated functions from the command line.
ExomePostQC Queue script now creates a byAC eval using the new strat, and no longer produces a byAF file (as this was not exact, and lead to strange punctile behavior when actual AF quantization was out of sync with fix quantization of AF strat.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6015 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-19 03:11:00 +00:00
64196b6c7a
Writer implementation that can dispatch reads to maltiple underlying bam files
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6013 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-17 20:44:17 +00:00
1afd24c831
SliceBams now handles properly the case where multiple read groups clash in the input BAM files
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6012 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-17 20:19:19 +00:00
dd1d9cd76f
Forgot to deprecate the old args
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6009 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-16 17:54:44 +00:00
4e85416af1
[Foiled yet again when trying to do this in git] Slight modifications in the argument structure for the IndelRealigner. Instead of boolean flags -knownsOnly and -doNotUseSW, we now have an enum --consensusDeterminationModel which lets you specify knowns only, also use indels in reads, or also use SW. Please note that the default behavior of IR has not changed at all (and won't for a few more days) - that'll be done in GIT (fingers crossed).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6008 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-16 17:35:37 +00:00
4304fc4862
Fixed up md5s
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6007 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-16 16:20:41 +00:00
43fdd31e20
Significant performance optimization for reduced reads due to better algorithm for including reads in the variable regions. Fixed a critical bug that actually produced multiple copies of the same read in the variable regions with this optimization as well. Scala exploration script updated as well.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6005 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-16 12:54:59 +00:00
d7430c23f8
Bringing VQSR up to date with the 1000G v2b changes
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6000 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-14 20:23:43 +00:00
04ecbf10ab
Fixes the constraint-generated error about stop being less than start in GenomeLocParser.createGenomeLoc.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5999 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-14 17:44:11 +00:00
5be4f31515
Surprisingly, the TileCovariate was indeed covered in integration tests. Updated.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5997 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-14 17:40:23 +00:00
d00d4fd4d6
Obsolete covariate class
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5993 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-14 14:11:47 +00:00
db43e3f1ab
Fixing an apparent parenthesis matching problem
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5986 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-13 18:52:14 +00:00
3534f412c9
Better error message for the case of input variants found in ApplyRecalibration that were never seen during VariantRecalibrator.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5979 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-13 14:45:28 +00:00
6231bba288
Bug fix for mergeInfoWithMaxAC
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5978 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-12 20:10:16 +00:00
1f4469976e
Made into UserException with better error message
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5977 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-12 03:38:52 +00:00
0d6ce91614
When running CombineVariants with -mergeInfoWithMaxAC the set field will be added appropriately
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5974 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-10 14:35:48 +00:00
f8ffda6835
a) Hidden, experimental argument to UnifiedGenotyper that makes code, when in GenotypeGivenAlleles mode, ignore SNP alleles mixed in with indels in complex records - theory is that SNP sites behave statistically differently when doing VQSR so those alleles/sites should be treated separately.
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b) Bug fix: multiallelic indel records where not being treated properly by VQSR because vc.isIndel() returns false with them. Correct general treatment for now is to do (vc.isIndel()||vc.isMixed()).
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5973 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-09 19:19:23 +00:00
17e17d3c3c
Misc cleanup in VQSR.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5972 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-09 18:37:37 +00:00
ac3620839c
Very basic intergration tests for ReducedReads, to allow safe optimization of the code
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5970 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-09 17:06:32 +00:00
895e86c544
Annotations used to build the 1000G consensus callsets are now standard annotations
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5969 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-09 17:03:39 +00:00
93d6e17762
Final, documented version of CalibrateGenotypeLikelihoods.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5966 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-08 20:22:28 +00:00
44287ea8dc
ReducedBAM changes to downsample to a fixed coverage over the variable regions. Evaluation script now has filters and eval. commands.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5965 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-08 19:36:08 +00:00
49b021d435
Changed the definition of degeneracy (it's at the site level - degeneracy of a position in a codon, not degeneracy of the amino acid itself like I initially thought. Added the ability to supply an ancestral allele track (available in /humgen/gsa-hpprojects/GATK/data/Ancestor/).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5963 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-08 15:07:31 +00:00
a331e13721
Slightly more extensive test includes a 0/0 site to genotype
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5961 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-08 14:48:55 +00:00
0f43b10c39
Optimization in CombineVariants when merging into a sites_only VCF
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VariantContextUtils now was a utility function that creates a sitesOnlyVariantContext from an input VC
Add complex merge test of SNPs and indels from the new batch merge wiki in :
http://www.broadinstitute.org/gsa/wiki/index.php/Merging_batched_call_sets
with multiple alleles for an indel. Created a BatchMergeIntegrationTest that uses GGA with the complex merged input alleles to genotype SNPs and Indels with multiple alleles simultaneously in NA12878. Looks great.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5959 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-08 14:31:46 +00:00
droazen
ebanks
delangel
kshakir
asivache
chartl
rpoplin
depristo
kiran