e313eeede8
Push command-line expansions, such as BAM list unpacking and -B tag parsing, out
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into the CommandLine* classes. This makes it easier for external functionality
(such as the VCF streamer) to use GenomeAnalysisEngine directly.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4897 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-22 19:00:17 +00:00
66cca7de0f
renamed genotypesArePhased to isPhased, as the previous name was incorrect for several reasons. Added setPhase() to MutableGenotype. Other classes changed to reflect renaming to isPhased(). CombineVariants now supports an experimental MASTER mode where it consumes -B:master,vcf and -B:xi,vcf for any number i and updates the master with phasing information in xi.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4896 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-22 17:42:05 +00:00
e7569cfe6f
Updated dbsnp version usage. Calling with 132, but still using 129 for eval to maintain consistant known/novel eval
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4895 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-22 17:37:27 +00:00
2235245af0
PrivatePermutations generalized to compute transition counts and average probabilities (and thus was renamed). Changes in some pipelines to reflect the change. Bugfix in the batch merging pipeline (it would halt because the allele VCF for genotyping batches could become off-spec).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4894 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-22 15:16:15 +00:00
a1653f0c83
Another major redo for indel genotyper: this time, add ability to do allele and variant discovery, and don't rely necessarily on external vcf's to provide candidate variants and alleles (e.g. by using IndelGenotyperV2). This has two major advantages: speed, and more fine-grained control of discovery process. Code is still under test and analysis but this version should be hopefully stable.
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Ability to genotype candidate variants from input vcf is retained and can be turned on by command line argument but is disabled by default.
Code, by default, will build a consensus of the most common indel event at a pileup. If that consensus allele has a count bigger than N (=5 by default), we proceed to genotype by computing probabilistic realigmment, AF distribution etc. and possibly emmiting a call.
Needed for this, also added ability to build haplotypes from list of alleles instead of from a variant context.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4893 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-22 02:38:06 +00:00
cd4883f4da
Be certain to include core GATK reference metadata features and codecs in the
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final package.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4892 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-21 21:30:07 +00:00
7185fcb47b
Committing my notes about the methods development pipeline so we stay synced up while I'm on vacation. Cheers.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4891 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-21 21:14:20 +00:00
cc909602c7
Vectorize() pDirectlyPhaseHetPairAtDistanceUsingDepth; deal with minor precision issues
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4890 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-21 17:18:26 +00:00
09c7ea879d
Merging GenomeAnalysisEngine and AbstractGenomeAnalysisEngine back together.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4889 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-21 02:09:46 +00:00
80770dc032
Expanded target pipeline complete. Stop trying to be clever about scatter-gather; wait until functional SG is built-in to Q. Til then, a lazy version of the fullCallingPipeline. Seems to take a long time to generate the graph though...
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4888 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-21 00:56:16 +00:00
758d14a261
Checking in scripts used for testing the linear index MAX_FEATURES_PER_BIN.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4887 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 21:25:36 +00:00
fc33901810
Graph structure must be known at compile time. Removing GroupIntervals until a future point where in-process-functions can predict their output based on inputs [though this is probably forever: the inputs may not exist at compile time!]
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4886 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 21:22:58 +00:00
61d5daa65c
EXTREME interval processing. Still undergoing testing.
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+ GroupIntervals allows user-defined scattering (e.g. take an interval list file, split it into k smaller interval list files by number of lines)
+ ExpandIntervals expands the intervals, either by widening them, or allowing the definition for nearby intervals (e.g. flanks starting 1bp before and after, ending 10bp after that)
+ IntersectIntervals takes n interval lists, writes 1 interval list that is the n-way intersection of all of them
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4885 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 19:42:50 +00:00
a829284d84
Return analyzed window sizes as well
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4884 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 17:00:17 +00:00
b3ac47812c
No longer emits records at filtered sites, in sub-sampling mode
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4883 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 16:43:50 +00:00
60880b925f
VC utils prune method now will keep genotype attributes as well as info keys. RBP now emits a far reduce (NO INFO, only GT:GQ:PG) records, further reducing size of phasing output
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4882 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 16:33:14 +00:00
8604335566
Minor improvements to further reduce debugging output. When running in -samplesToPhase mode, now only including the samples to phase in the output VCF, making it very much smaller.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4881 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 16:19:47 +00:00
ff90c24f28
RBP now supports operating on a subset of samples, outputting a much reduced VCF file appropriate for merging later. Also, general optimization to avoid printing enormous amounts of data to logger.debug by using a glocal static variable DEBUG that conditionally allows writing to the variable. Passes integration tests
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4880 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 16:03:28 +00:00
4ca1da1d07
Updating the NA12878.HiSeq bam file to be the correct bam file in the methods development qscript.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4879 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 14:53:10 +00:00
8fac346ac1
Misc cleanup in Methods Development Qscript
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4878 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-20 04:24:25 +00:00
34ab5b4889
Turning on BAQ in Methods Development pipeline. A new dataset is added: 363 EUR samples from the November 1000G release.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4877 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-19 21:13:25 +00:00
8118a439c0
Commit for Khalid
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4876 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-18 22:24:18 +00:00
15a33545f4
Updating Methods development pipeline qscript with the bam lists for all the data sets. It is ready for people to start running with it.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4875 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-18 22:19:14 +00:00
6db86ae0c6
PAC sets the refseq file to optional.
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Additional ipf for expanding interval lists. Either there's heavy latency on the toro -- or it's not working properly yet (e.g. the system print in the same scope as the file print outputs a line, but no file shows up on the system)
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4874 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-18 19:04:52 +00:00
f0ab7b849a
Adding a window size variable to avoid indel genotyper error
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4873 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-18 04:19:54 +00:00
a3729bd59c
Now I call BeforeMethod correctly
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4872 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 22:45:45 +00:00
bdef4e775a
Initial checkin of methods development pipeline qscript. It allows the methods dev team to run an overnight job which calls and recalibrates a variety of data sets and allows for an end-to-end sanity check of final results for potential changes to the methods. It isn't meant to be used by anybody quite yet, but shows the general structure and flow.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4871 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 22:14:02 +00:00
b7e4a015c0
static thread cache reset in UnitTest
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4870 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 21:53:10 +00:00
3bbc6a0540
Slightly more thread safe CachingIndexedFastaSequenceFile.java. Likely passes parallel testing
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4869 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 21:05:17 +00:00
6f29a9dbb4
Updated pipeline test to match Eric's changes in r4846.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4868 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 19:52:09 +00:00
5dd0e8388b
Fixed a bug in UnitTest
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4867 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 19:44:35 +00:00
095fc1922a
By popular demand I'm adding the qscript I used to do the 660 bamfile 1000G calling for ASHG. It does cleaning, BAQing, and merging in 3mb chunks genome-wide then calls SNPs on those temporary bams.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4866 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 18:49:03 +00:00
4a54f3f230
ThreadLocal version of CachingIndexedFastaSequenceFile. More efficient support for shared memory BAQ calculations
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4865 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 15:44:48 +00:00
32d5397c01
Experimental support for sided annotations. Currently not more/less valuable than two-tailed testing. Future experiments are needed
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4864 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 15:08:31 +00:00
21dc05138a
Bug fixes for the bwa aligner and changes to support compiling against newer releases of the bwa code base.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4863 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 14:49:15 +00:00
0d18bd1011
Now that addAll() is in the superclass, no longer need this definition (which, without override, prevents the script from compiling anyway)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4862 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-17 05:36:31 +00:00
fd1d817d45
Cryptic implementation of base-string entropy. I suspect this scales ~linearly with length, so I may choose to normalize in the future.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4861 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 22:25:05 +00:00
3a6d1dbcef
Fixed a class initializer crash on shutdown when the graph has nothing to run.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4860 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 18:56:55 +00:00
8101f8f301
Simplified the Queue package definition so that BCEL doesn't miss any dependent queue classes or those loaded via reflection.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4859 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 18:17:48 +00:00
2bd2667516
Another privately-owned class to add before re-checking out repository
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4858 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 18:14:51 +00:00
08710fc71e
A successor to the Design File Generator and GCContent walkers; allows for refseq/other metadata annotation of intervals, and calculates reference GC content and entropy of the interval. Compiles, but as yet untested and incomplete (but my repositories are kinda messed up so i'm committing this to blow 'em away and re checkout
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4857 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 18:14:03 +00:00
e406eb0f95
Adding a useful accessor method to TableFeature
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4856 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 18:11:51 +00:00
6310a524d9
Do not abort integration (over het-het distances) on errors, but warn about them
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4855 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 17:20:25 +00:00
8ab4704b4c
Adding a command-line argument to allow missing values to evaluate as false instead of true
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4854 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 05:18:12 +00:00
9f3e56e487
VariantAnnotator shouldn't die when multiple records occur at the same position
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4853 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 04:05:47 +00:00
b1f0df0047
Handle case where read lengths are longer than fragment size
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4852 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 02:19:55 +00:00
a5e1854b3a
Forgot to pass correct parameters to calcPhasingProbsForWindowDistances()
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4851 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 01:58:06 +00:00
2b0dc8625c
Updated RBP theoretical model as per Mark's insights regarding the correct understanding of insert sizes being calculated post-hoc from the distance between read lengths. The correct way to think of it is: 1) There's a fragment of length F. 2) Each of it's two ends are read for L bases. 3) The insert size = i = F - 2 * L, after the fragment's assumed identity is determined by mapping the read mates to a reference sequence. Therefore, the external user-defined distribution is on the FRAGMENT SIZES
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4850 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-16 01:45:20 +00:00
acfe83920b
'-L unmapped': adding integration tests for explicitly including (-L unmapped)
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unmapped reads and explicitly excluding (-XL unmapped) unmapped reads, augmenting
the suite of unit tests already put in place.
'-L unmapped' seems safe to use; go for it, but please validate results against
samtools flagstat when the process finishes.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4849 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-15 23:11:46 +00:00
aea481ae01
Trivial bug fix
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4848 348d0f76-0448-11de-a6fe-93d51630548a
2010-12-15 18:29:15 +00:00
hanna
depristo
corin
chartl
delangel
rpoplin
fromer
kshakir
handsake
ebanks