8a7f5aba4b
First more or less sort of functional framework for statistical Indel error caller. Current implementation computes Pr(read|haplotype) based on Dindel's error model. A simple walker that takes an existing vcf, generates haplotypes around calls and computes genotype likelihoods is used to test this as first example. No attempt yet to use prior information on indel AF, nor to use multi-sample caller abilities.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4197 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-03 00:25:34 +00:00
a1cf3398a5
Added basic version of phasing evaluation: GenotypePhasingEvaluator
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4196 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-02 22:09:50 +00:00
fd5970fdd4
At chartl's superb suggestion, command line files are now all Files instead of old method of sometimes "has a File". Should be easier when reassigning them.
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No longer generating deprecated GATK arguments on the Queue extensions.
Emitting deprecation warnings to Queue compile to help debugging issues.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4195 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-02 21:30:48 +00:00
0bb05fb472
Bug fix in VariantRecalibrator. Only add sample names from the input rod bindings, not from all rod bindings.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4194 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-02 21:12:09 +00:00
3a4844ebde
Additional partition types into DepthOfCoverage:
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- Sequencing Center
- Platform
- Sample by Center
- Sample by Platform
- Sample by Platform by Center <---- needed for analysis I'm doing
The fact that the latter three needed their own partition types, rather than being dictatable from the command line, combined with the new hierarchical traversal types, and new output formatting engine, suggest that DepthOfCoverageV3 is about ready to be retired in favor of a newer, sleeker version.
For now, this will do.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4193 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-02 19:30:03 +00:00
590bb50d16
Test for missing read group
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4192 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-02 14:22:13 +00:00
acd6bd2430
Experimental tool to annotates indels that are provided in a VCF file based on RefGene. Specifies gene, transcript, strand, type (Non-frameshift, frameshift, 5'-UTR, 3'-UTR, SpliceSiteDisruption, Intron, or Unknown).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4191 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 23:30:28 +00:00
dc5f858d29
Replaced placeholder support for splitting by read group with read support (sorry everyone), and added relatively comprehensive unit tests to ensure that splitting by read group works.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4190 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 22:24:50 +00:00
b28f63a948
Base recalibrator now uses -o and deprecates -outputBam
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4189 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 22:13:50 +00:00
33400074fa
Updated tribble BED parsing code to use the official UCSC spec, and updated tests to match expected results.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4188 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 21:49:06 +00:00
995cfe34fe
You can have an error so early that some engine fields are uninitialized. Commit protects RunReport from these errors
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4185 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 19:00:25 +00:00
a975db2c2e
Bug fix for the case of reads with no read bases!
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4184 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 16:58:54 +00:00
469bbaa240
Added more integration tests for the variant quality score recalibrator
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4181 348d0f76-0448-11de-a6fe-93d51630548a
2010-09-01 15:31:24 +00:00
8c4009ee18
Oops, don't enable reporting in integration tests
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4179 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 22:56:18 +00:00
5b94c926c8
More precise language.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4178 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 21:44:22 +00:00
96040726ac
Better exception text for the common error of providing only dbsnp but giving dbsnp sites zero clustering weight.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4177 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 21:36:43 +00:00
32c6b48106
Proper memory metrics in the file. Please use -et if at all possible
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4175 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 20:30:09 +00:00
63c7cbd89b
Forgot to commit this long ago, change so the tables are correctly propagated
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4174 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 19:06:52 +00:00
db4ff7317f
allowing empty RMD files (we need to not validate their sequence dictionaries against the reference in this case)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4173 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 17:45:33 +00:00
3d6c4fc55f
Removing the obsolete --hapmap and --hapmap_chip options
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4172 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 16:57:05 +00:00
b33873206a
GATKRunReport now has an ID (random 32 char string) that uniquely identifies the JOB run and can be used to find a run in the run repository
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4171 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 16:18:57 +00:00
3c956110f3
Fixing up the VCFWriter storage code: instead of assuming all samples are coming from the input bam file (they're not), just use the original VCF header for writing the temporary thread files. Now parallelization in e.g. the Genomic Annotator works.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4168 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-31 02:16:07 +00:00
69d92fab4f
adding the ability to get iterators from Tribble without having an index, and updating the Tabix code to the latest Samtools SVN version (this still doesn't fix the outstanding tabix bugs, waiting for Heng on that).
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4167 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-30 21:49:23 +00:00
50f7f18cbd
Changed ReadBackedPhasing default PQ threshold to 10
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4166 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-30 21:26:15 +00:00
e64d1be475
Check if VC is null before trying to subset it (can happen with indels)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4165 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-30 20:43:37 +00:00
1ddb5d17c9
hostname now fully qualified and working
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4163 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 17:04:37 +00:00
4c28fc3a39
Clear documentation for GATKRunReport
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4161 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 15:59:25 +00:00
16b75e3b9a
A new version of the ErrorRateByReadPosition walker, using the GATKReport functionality to store and emit its output. This version of the walker is roughly half the number of lines as the previous version, owing simply to the removal of all of the output formatting that's now handled by GATKReport.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4160 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 05:41:13 +00:00
fd19c63aaf
A data structure that allows data to be collected over the course of a walker's computation, then have that data written to a PrintStream such that it's human-readable, AWK-able, and R-friendly (given that you load it using the GATKReport loader module).
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This object designed to be both the structure that holds data during the execution of the walker, as well as the object that properly formats and emits the data so that it can be easily loaded into R. In the end, you get a table that looks like this:
##:GATKReport.v0.1 ErrorRatePerCycle : The error rate per sequenced position in the reads
cycle errorrate.61PA8.7 qualavg.61PA8.7
0 0.007451835696110506 25.474613284804366
1 0.002362777171937477 29.844949954504095
2 9.087604507451836E-4 32.87590975254731
3 5.452562704471102E-4 34.498999090081895
4 9.087604507451836E-4 35.14831665150137
5 5.452562704471102E-4 36.07223435225619
6 5.452562704471102E-4 36.1217248908297
7 5.452562704471102E-4 36.1910480349345
8 5.452562704471102E-4 36.00345705967977
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A GATKReport object can hold multiple tables, and the write() method will emit all tables in succession. Each table starts with its own ##:GATKReport.v0.1 table header, so each table can stand alone. This allows for tables to be mixed and matched in a single file, or for the output from different walkers to be combined into a single file with no ill effect.
The display property of individual columns can be turned off. This is useful when a column is used to store intermediate results, necesary for the computation of some later value, but the contents of the intermediate column itself are not required in the final output file.
Finally, the GATKReportTable allows for some simple, mathematical, element-wise and column-wise operations. For instance, two whole columns can be divided, the results of the operation being stored in a third column. This mimics the most basic of R operations, where whole vectors can be added, subtracted, multiplied or divided without requiring the developer to explicitly write a loop.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4159 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 05:39:24 +00:00
df76474b34
Proper filtering when indels are being lifted over
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4158 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-29 04:48:31 +00:00
3fd2392090
Improved interface to getting command line options. Now fully traverses all objects to get all internal argument collections. Preliminary (but disabled version) of phoning home (see -et argument for more information). Captures correct and erroring out runs and writes out gzipped, xml report with lots of useful information. Needs a bit more information but is approximately working. Reports going to /humgen/gsa-hpprojects/GATK/reports/ in submitted directory that will be collated by some external tool. Only operating if -et STANDARD or -et STDOUT are provided currently and REPORT_DIR contains a file called ENABLE. WalkerTest now adds -et NO_ET to tests to avoid populating the reports with tests.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4155 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-28 22:53:32 +00:00
9c3f403307
Add the calculated lod value to the info field of each recalibrated VCF record.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4153 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 21:33:58 +00:00
fe19539188
Small bug fix: if a read falls at the edge of an indel event (but is not part of it), don't count it towards consistency computation.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4152 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 20:37:27 +00:00
54355b1864
In variant quality score recalibrator Preserve the definition of known and novel to be presence in dbSNP or not even when training with 1KG project calls.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4151 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 19:07:59 +00:00
7a5f297083
actually modify the vcf when a sample has been down-sampled
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4150 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 19:03:21 +00:00
9860db64a3
Fix up liftover to enable lifting over indels
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4148 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 17:55:27 +00:00
fb177c4fee
If only dcov is specified, assume that selected downsample type is BY_SAMPLE.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4147 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 17:35:41 +00:00
9584cbc05e
UG now downsamples to 250x by default
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4146 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 16:53:15 +00:00
431392330e
Re-enable the max records in ram argument, which I accidentally removed
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4145 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 16:42:49 +00:00
de5ccfb0b1
Moved hasPileupBeenDownsampled() based on Eric's request. Also eliminated
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@Deprecated constructors from AlignmentContext.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4142 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 16:12:05 +00:00
427a2f85e9
The Indel Realigner now lets the engine do all of the setup for args affecting the SAM writer. Thanks, Matt!
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4141 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 15:19:47 +00:00
a3d9d23b0f
Now prints het genotype with GQ=0 for each indel; in two-sample (normal-tumor) mode, prints both genotypes (N and T) as hets for germline events or hom ref for N and het for T for somatic events (all genotypes still have GQ=0)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4140 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 15:06:42 +00:00
dda84a0e54
Re-enabling indels for the Genomic Annotator as per Steve's patch. Steve assures me that he will test this out really well.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4139 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 15:01:25 +00:00
6f4af47aac
setMaxRecordsInRam now a member of StingSAMFileWriter.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4138 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 14:50:41 +00:00
bfcac33e80
Cleaning up playground utils and tests
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4136 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 01:25:47 +00:00
4979dcc9a7
Finishing up the playground cleanup (for now)
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4135 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 01:19:37 +00:00
0452b1ab68
archiving, removing, or promoting to core from playground
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4134 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-27 01:07:42 +00:00
d773b3264b
Eliminated -mrl option.
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Eliminated -fmq0 option.
Eliminated read group hallucination.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4133 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 21:38:03 +00:00
f384d4a5d6
A java reimplementation of vcf2table in python; supports getting more useful information about genotypes (HET, e.g.) than was possible in python.
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4130 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 17:50:33 +00:00
1e193e4c20
prinring '\n' at the end of line leads to some aesthetical advantages
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git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@4129 348d0f76-0448-11de-a6fe-93d51630548a
2010-08-26 16:29:42 +00:00
delangel
fromer
kshakir
rpoplin
chartl
kiran
hanna
depristo
aaron
ebanks
asivache