d03425df2f
TODO optimization targets
2011-12-12 17:39:51 -05:00
025bdfe2cc
Merge branch 'master' of ssh://copper.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2011-12-12 12:19:44 +01:00
7b6338c742
Merge branch 'master' into trialleles
2011-12-11 00:28:46 -05:00
7c4b9338ad
The old bi-allelic implementation of the Exact model has been completely deprecated - you can only use the multi-allelic implementation now.
2011-12-11 00:23:33 -05:00
044f211a30
Don't collapse likelihoods over all alt alleles - that's just not right. For now, the QUAL is calculated for just the most likely of the alt alleles; I need to think about the right way to handle this properly.
2011-12-10 23:57:14 -05:00
364f1a030b
Plumbing added so that the UG engine can handle multiple alleles and they can successfully be genotyped. Alleles that aren't likely are not allowed to be used when assigning genotypes, but otherwise the greedy PL-based approach is what is used. Moved assign genotypes code to UG engine since it has nothing to do with the Exact model. Still have some TODOs in here before I can push this out to everyone.
2011-12-09 14:25:28 -05:00
64dad13e2d
Don't carry around an extra copy of the code for the Haplotype Caller
2011-12-09 11:09:40 -05:00
442ceb6ad9
The Exact model now computes both the likelihoods and posteriors (in separate arrays); likelihoods are used for assigning genotypes, not the posteriors.
2011-12-09 10:16:44 -05:00
a79144f7db
Merge branch 'master' of ssh://copper.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2011-12-09 15:57:24 +01:00
5a06170804
Corrected bug causing getChildrenWithParents() to not take the last family member into consideration.
2011-12-09 14:51:34 +01:00
aa4a8c5303
No dynamic programming solution for assignning genotypes; just done greedily now. Fixed QualByDepth to skip no-call genotypes. No-calls are no longer given annotations (attributes).
2011-12-09 02:25:06 -05:00
8777288a9f
Don't throw a UserException if too many alt alleles are trying to be genotyped. Instead, I've added an argument that allows the user to set the max number of alt alleles to genotype and the UG warns and skips any sites with more than that number.
2011-12-09 00:00:20 -05:00
3e7714629f
Scrapped the whole idea of an int/long as an index into the ACset: with lots of alternate alleles we run into overflow issues. Instead, simply use the ACcounts array as the hash key since it is unique for each AC conformation. To do this, it needed to be wrapped inside an object so hashcode() would work.
2011-12-08 23:50:54 -05:00
4aebe99445
Need to use longs for the set index (because we can run out of ints when there are too many alternate alleles). Integration tests now use the multiallelic implementation.
2011-12-08 15:31:02 -05:00
7750bafb12
Fixed bug where last dependent set index wasn't properly being transferred for sites with many alleles. Adding debugging output.
2011-12-08 13:50:50 -05:00
252e0f3d0a
Merged bug fix from Stable into Unstable
2011-12-08 13:11:39 -05:00
1bfe28067f
Don't try to genotype an indel even bigger than the reference window size, or else we'll be out of bounds. Necessary to handle Phase 1 integrated callset with large deletions. Better error indication when validating a GenomeLoc.
2011-12-08 12:54:08 -05:00
9def841275
Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable
2011-12-07 13:36:16 -05:00
4055877708
Prints 0.0 TiTv not NaN when there are no variants
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-- Updated md5
2011-12-07 12:07:54 -05:00
15533e08df
Fixed issue with RODWalker parallelization.
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Turns out that someone previously upped the declared size of a ROD shard to 100M bases, making
each ROD shard larger than the size of chr20. Why didn't we see this in Stable? Because the
ShardStrategy/ShardStrategyFactory mechanism was dutifully ignoring the shard size specification.
When I rolled the ShardStrategy/ShardStrategyFactory mechanics back into the DataSources as part
of the async I/O project, I inadvertently reenabled this specifier.
2011-12-07 11:55:42 -05:00
5d2212bc8e
Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable
2011-12-07 09:03:17 -05:00
6bf18899df
Fix for variant summary -- now treats all 50 bp deletions or insertions as CNVs
2011-12-07 09:02:49 -05:00
c9b2cd8ba5
Fix for chartl's stale null representation issue.
2011-12-06 18:05:17 -05:00
79d18dc078
Fixing indexing bug on the ACsets. Added unit tests for the Exact model code.
2011-12-06 16:17:18 -05:00
f5b977fc88
Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable
2011-12-06 10:11:35 -05:00
4001c22a11
Better file count / buffering variation in test suite. Parameterized read shard buffering. Misc cleanup.
2011-12-06 10:10:38 -05:00
677bea0abd
Right aligning GATKReport numeric columns and updated MD5s in tests.
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PreQC parses file with spaces in sample names by using tabs only.
PostQC allows passing the file names for the evals so that flanks can be evaled.
BaseTest's network temp dir now adds the user name to the path so files aren't created in the root.
HybridSelectionPipeline:
- Updated to latest versions of reference data.
- Refactored Picard parsing code replacing YAML.
2011-12-05 23:22:15 -05:00
7a0f6feda4
Make sure that too many alternate alleles aren't being passed to the genotyper (10 for now) and exit with a UserError if there are.
2011-12-05 16:18:52 -05:00
7fac4afab3
Fixed priors (now initialized upon engine startup in a multi-dimensional array) and cell coefficients (properly handles the generalized closed form representation for multiple alleles).
2011-12-05 15:57:25 -05:00
a7cb941417
The posteriors vector is now 2 dimensional so that it supports multiple alleles (although the UG is still hard-coded to use only array[0] for now); the exact model now collapses probabilities for all conformations over a given AC into the posteriors array (in the appropriate dimension). Fixed a bug where the priors and posteriors were being passed in swapped.
2011-12-04 13:02:53 -05:00
eab2b76c9b
Added loads of comments for future reference
2011-12-03 23:54:42 -05:00
29662be3d7
Fixed bug where k=2N case wasn't properly being computed. Added optimization for BB genotype case not in old model. At this point, integration tests pass except for 1 case where QUALs differ by 0.01 (this is okay because I occasionally need to compute extra cells in the matrix which affects the approximations) and 2 cases where multi-allelic indels are being genotyped (some work still needs to be done to support them).
2011-12-03 23:12:04 -05:00
71f793b71b
First partially working version of the multi-allelic version of the Exact AF calculation
2011-12-02 14:13:14 -05:00
3060a4a15e
Support for list of known CNVs in VariantEval
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-- VariantSummary now includes novelty of CNVs by reciprocal overlap detection using the standard variant eval -knownCNVs argument
-- Genericizes loading for intervals into interval tree by chromosome
-- GenomeLoc methods for reciprocal overlap detection, with unit tests
2011-11-30 17:05:16 -05:00
b65db6a854
First draft of a test script for I/O performance with the new asynchronous I/O processing.
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Also includes convenience parameters for specifying the IO/CPU threading balance outside of a tag. Will be killed when
Queue gets better support for tagged arguments (hopefully soon).
2011-11-30 13:13:16 -05:00
28b286ad39
Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable
2011-11-30 09:11:53 -05:00
20bffe0430
Adapted for the new version of MendelianViolation
2011-11-30 14:46:38 +01:00
1cb5e9e149
Removed outdated (and unused) -familyStr commandline argument
2011-11-30 14:45:04 +01:00
f49dc5c067
Added functionality to get all children that have both parents (useful when trios are needed)
2011-11-30 14:43:37 +01:00
a4606f9cfe
Merge branch 'MendelianViolation'
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Conflicts:
public/java/src/org/broadinstitute/sting/utils/MendelianViolation.java
2011-11-30 11:13:15 +01:00
b279ae4ead
Merge branch 'master' of ssh://copper.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2011-11-30 10:10:21 +01:00
91413cf0d9
Merged bug fix from Stable into Unstable
2011-11-29 14:01:23 -05:00
cb284eebde
Further updating VQSR tutorial wiki docs to reflect the bundle
2011-11-29 14:00:57 -05:00
dcb889665d
Merged bug fix from Stable into Unstable
2011-11-29 09:58:49 -05:00
447e9bff9e
Updating VQSR tutorial wiki docs to reflect the bundle
2011-11-29 09:57:45 -05:00
110298322c
Adding Transmission Disequilibrium Test annotation to VariantAnnotator and integration test to test it.
2011-11-29 09:29:18 -05:00
ab67011791
Corrected bug introduced in the last update and causing no families to be returned by getFamilies in case the samples were not specified
2011-11-29 11:18:15 +01:00
d7d8b8e380
Tribble v42 changes the Codec.canDecode method to take in a String instead of a File; this is something that Jim was adamant about (because Tribble can handle streams other than files). I didn't want the next person who needed to rev Tribble to deal with this change additionally, so I took care of updating the GATK now.
2011-11-28 14:18:28 -05:00
a09c01fcec
Removed walker argument FamilyStructure as this is now supported by the engine (ped file)
2011-11-28 17:18:11 +01:00
795c99d693
Adapted MendelianViolation to the new ped family representation. Adapted all classes using MendelianViolation too.
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MendelianViolationEvaluator was added a number of useful metrics on allele transmission and MVs
2011-11-28 17:13:14 +01:00
Mark DePristo
Laurent Francioli
Eric Banks
Guillermo del Angel
Matt Hanna
Khalid Shakir
Ryan Poplin