af84462f3e
The dev team has decided to change the filter that is added to records that are set to monomorphic by Beagle. It no longer lists the reference allele. Added those filters to the header of the output VCF file. Finally, we no longer use R2=NaN values coming from Beagle.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4757 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 17:19:54 +00:00
21256909bb
Not supported. I'm checking this in for Ryan only.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4756 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 16:59:18 +00:00
e21a66d876
Updated the Queue GATK generator and packaging to include more dependencies for fullCallingPipeline.q.
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Set the -bigMemQueue in the FullCallingPipelineTest to GSA to avoid waiting for the week queue when it is busy.
Fixed the package definition of PipelineTest so that scalac won't recompile it every time.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4755 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 15:29:40 +00:00
7f2ded0706
belated special case fix for Menachem; if the results of a BTI and BTIMR produce an empty interval list, exception out. This would be solved long term with better handling or empty and / or null interval lists. I'll add a JIRA
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4754 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 05:49:20 +00:00
a181680814
We no longer require dbSNP files to be of the dbsnp rod-type; VCFs will do (provided they are bound to the name 'dbsnp')
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4753 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 03:25:18 +00:00
4413208c45
Removing unnecessary and incorrect includes
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4752 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 02:06:48 +00:00
8ffea42b75
about 10% improvement in SW alignment (and hence IndelRealigner!) speed by using c-style linearized array representation for matrices instead of java 2D arrays...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4751 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 00:06:50 +00:00
b03ac61e9d
consolidating the checking of the RMD sequence dictionary against the reference into a single function, and adding an integration test to test that empty VCFs pass (both the indexing and the seq dictionary validation).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4750 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-30 00:01:56 +00:00
abc13d0a90
Temporary hack: force abort with an intelligent message suggesting that users
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specify -B:dbsnp,vcf <filename> if the filename passed if the --DBSNP argument
value contains 'vcf'. We'll replace this functionality once dbSNP 132 starts
playing nicely with the tagging system.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4749 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-29 23:37:30 +00:00
73946716ac
cleanup
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4748 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-29 21:54:22 +00:00
d89e17ec8c
Fare thee well, UGv1. Here come the days UGv2.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4747 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-29 21:51:19 +00:00
727dac7b7a
Added MNP annotation of the number of AA changes occuring in the SAME RefSeq entry (numAAchanges), and if this number is > 1 for any of the alt alleles (alleleHasMultAAchanges)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4746 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-29 21:24:30 +00:00
222cd42ceb
Have the UG engine take care of the GL to PL conversion. Note that we still use GLs for calling (since we are losing precision in high-pass and, even worse, it can affect QD), but we emit PLs in all cases. This means that calculating the GLs, emitting them to VCF, and then calling off of them (a la samtools) is absolutely, positively not ideal.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4745 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-29 20:28:16 +00:00
102c8b1f59
Large refactoring of the UGv2 engine so that it is now truly separated into 2 distict phases: GL calculation and AF calculation, where each can be done independently. This is not yet enabled in UGv2 itself though because I need to work out one last issue or two. Tested on 1Mb of 1000G Aug allPops low-pass and results are identical as before. Also, making BQ capping by MQ mandatory.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4744 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-28 21:36:33 +00:00
ce051e4e9a
Write to sdout when no -o is provided
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4743 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-28 06:19:26 +00:00
9cca14acc5
Changed VCF subsetting procedure.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4742 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-28 00:46:29 +00:00
f8a3bd7243
A helper script to merge two VCFs, run VariantEval, and the VariantReport.R script.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4741 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-28 00:45:21 +00:00
c40c9aa5ef
Had these changes regarding memory cutoffs for a while. Committing them so I can be running a clean codebase, but people shouldn't use this. Queue is way better.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4740 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-27 23:31:31 +00:00
ecd496cf51
Modifications to reflect changes to gsalib. Smarter about figuring out the names of the filtered parts of the callset.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4739 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-27 23:26:03 +00:00
247f33a553
Prefixed all the functions with gsa. in order to distinguish the methods from other possible methods of the same name in the namespace.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4738 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-27 23:24:42 +00:00
6f8cd97673
Added a ten sample 1000G whole exome test along with SimpleMetricsBySample to the pipeline validation.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4737 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-26 23:17:23 +00:00
e3e6d176df
Looking over the daily error log email made me realize that there were 2 implementations of vc.modifyLocation() - the correct one in VC that didn't require lazy loading the genotype data and the bad one in VCUtils that did. Removing the implementation in VCUtils and updating the code accordingly. Also, removing createPotentiallyInvalidGenomeLoc() since no one uses it anymore.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4736 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-26 18:40:34 +00:00
35b90d2295
Don't compute SB for ref calls
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4735 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-26 03:54:26 +00:00
6934f83cc7
Two changes to CombineVariants.
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1. Fix: VCs were padded before the merge, but they were never unpadded afterwards. This leaves us with a VC that doesn't meet our spec.
2. Update: instead of running the merged VC through every standard annotation (which seems really wrong, since this isn't the annotator tool), just update the chromosome count annotations (AC,AF,AN) through VCUtils.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4734 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-25 04:52:12 +00:00
d775192631
Check if MNP annotation of amino acid is dependent on the MNP, or could it be obtained through some single-base variant?
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4733 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 22:38:33 +00:00
0dd40c3684
Updating doc text
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4732 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 21:34:14 +00:00
ed08899abc
Overwhelming evidence that maxQ = 50 is now a better default than maxQ = 40 in the base quality score recalibrator, especially when combined with dbsnp build 132. Also, added option in ProduceBeagleInputWalker for Beagle-ing chromosome X calls with male samples which sets the genotype likelihood for the AB allele to zero for those samples.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4731 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 21:32:26 +00:00
ca70ed611c
Totally revamped the MNP annotation and put it in its own walker: AnnotateMNPsWalker
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4730 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 18:05:10 +00:00
6b70cde0b9
Adding a forgotten quote mark
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4729 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 16:38:27 +00:00
8768e1a240
Useful profiling tool that reads in a single rod and evalutes the time it takes to read the file by byte, by line, into pieces, just the sites of the vcf, and finally the full vcf. Emits a useful table for plotting with the associated R script that can be run like Rscript R/analyzeRodProfile.R table.txt table.pdf titleString
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4728 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 14:59:16 +00:00
7a8b85dd15
Catch the JEXL exception when trying to match a variable that's not in the context - and don't filter in these cases. Now everyone can happily go back to using the stupid (and hopefully temporary) AlleleBalance filter.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4727 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 05:00:41 +00:00
caf2c21f61
Must close the writer to flush the cache
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4726 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 04:33:08 +00:00
816c33c821
indel-related fixes to the strict validator
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4725 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 04:08:34 +00:00
9cdc341be5
Trivial update for data processing paper: change syntax of output argument for Beagle by depth walker to update to new GATK format.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4724 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-24 01:45:44 +00:00
e15d18129c
Adding by sample metrics. Not sure why we didn't have this in here in the first place
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4723 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-23 21:36:03 +00:00
ea6e2218c1
1. dbsnp has some massive indels which my left-aligner was barfing on because there isn't enough reference context; fixed. 2. Lower default calling threshold to Q30 for UGv2.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4722 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-23 19:28:33 +00:00
fe28f8da9c
Removing Uniquify from main pipeline indel merge, since the pipeline isn't merging from samples with the same name anyway.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4721 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-23 17:25:22 +00:00
53672361cc
capture more details when something IO-related goes wrong in writing a Tribble index
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4720 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-23 17:06:28 +00:00
082073ca3c
Stop RBP.getPileupBySample() from throwing a NullPointerException if the
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sample doesn't exist -- now returns null.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4719 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-23 05:17:06 +00:00
d2fc30d188
Added a debugging statement to plot.venn
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4718 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-23 01:19:31 +00:00
787e5d85e9
Added the ability to test pipelines in dry or live mode via 'ant pipelinetest' and 'ant pipelinetest -Dpipeline.run=run'.
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Added an initial test for genotyping chr20 on ten 1000G bams.
Since tribble needs logging support too, for now setting the logging level and appending the console logger to the root logger, not just to "org.broadinstitute.sting".
Updated IntervalUtilsUnitTest to output to a temp directory and not the SVN controlled testdata directory.
Added refseq tables and dbsnps to validation data in BaseTest.
Now waiting up to two minutes for gather parts to propagate over NFS before attempting to merge the files.
Setting scatter/gather directories relative to the -run directory instead of the current directory that queue is running.
Fixed a bug where escaping test expressions didn't handle delimiters at the beginning or end of the String.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4717 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-22 22:59:42 +00:00
187b464ded
calling pipeline for v13 of the paper calls -- the final version
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4716 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-22 21:57:12 +00:00
28805d17ca
Commenting out allele-balance for now.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4715 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-22 16:48:08 +00:00
8ca5edf89f
Fix issue where non-required file inputs can throw a NullPointerException
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rather than a UserException when an the input argument is specified without
an argument value.
The magnitude of code required to fix this points to a need to give the
command-line argument system a good spring cleaning.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4714 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-22 01:49:17 +00:00
b9a59ea54f
Adding Het/Hom ratio to the temp per sample metrics. Because I'm in a generous mood tonight, I'm going ahead and fixing the paths for the classes I'm touching...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4713 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-21 04:24:42 +00:00
cff7c6ddce
These are user exceptions
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4712 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-21 02:08:11 +00:00
374c0deba2
Updating the core LocusWalker tools to include the Sample infrastructure that I added last month. This commit touches a lot of files, but only significantly changes a few: LocusIteratorByState and ReadBackedPileup and associated classes.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4711 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-19 19:59:05 +00:00
c723db1f4b
Added a -summary jexl argument to VariantEval similar to -validate.
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Updated the package of ValidationGenotyper to match the file location.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4710 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-19 04:42:46 +00:00
8dca5bd861
Putting the annotation back in, both to the filters and to UG
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4709 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-18 21:02:15 +00:00
da1fe5bb37
Removing the AB filter given that we don't have that in the VCF anymore
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4708 348d0f76-0448-11de-a6fe-93d51630548a
2010-11-18 20:22:05 +00:00
rpoplin
ebanks
kshakir
aaron
asivache
hanna
fromer
kiran
corin
depristo
delangel
bthomas