Commit Graph

12674 Commits (6dfd17122f7002ec2a8c0af374496c428ca8a4d7)

Author SHA1 Message Date
Ryan Poplin 6dfd17122f Merge pull request #362 from broadinstitute/rp_single_sample_hc_pipeline
Adding single sample HC qscript for Mauricio.
2013-08-06 12:11:50 -07:00
Ryan Poplin ee0aba224c Adding single sample HC qscript for Mauricio. 2013-08-06 15:10:15 -04:00
Mark DePristo 81a74351fd Merge pull request #360 from broadinstitute/rp_vqsr_ordering_of_annotations_bug
Fix for the VQSR visualization script with the new ordering of annotatio...
2013-08-03 09:49:42 -07:00
Ryan Poplin a46f633bd6 Fix for the VQSR visualization script with the new ordering of annotations. 2013-08-02 19:10:45 -04:00
Eric Banks 08a7ef6620 Merge pull request #358 from broadinstitute/md_tribble_reuse_query_stream
Rev picard to get optimized tribble feature reads
2013-08-02 10:29:39 -07:00
Mark DePristo d5dd3b23db Rev picard to get optimized tribble feature reads
-- The previous version of TribbleIndexedFeatureReader.query() would open a RandomAccessFile each time the GATK crossed a shard boundary.  When running with -L wex.intervals (or any time there were lots of intervals) we'd be opening and closing enormous numbers of files, radically slowing down the GATK.  With these patched versions of Tribble we see something like the following performance improvements:

SelectVariants with -L wex.intervals on my local machine against non-local file

pre-patch => 3 hours
post-patch => 30 seconds
2013-08-02 10:31:36 -04:00
jmthibault79 9316a70d1e Merge pull request #355 from broadinstitute/eb_add_error_handling_to_kb
Added error handling to the newly added sites iterator so that it doesn't NPE when it encounters a bad record
2013-08-02 06:40:41 -07:00
Eric Banks ae5fc4c726 Merge pull request #356 from broadinstitute/mc_refbias
Reference bias walker
2013-08-02 06:30:56 -07:00
Eric Banks 8a1e2d58ef Merge pull request #357 from broadinstitute/mc_resort_haplotypes
Better caching for the HaplotypeCaller (significant speed up on NA12878 chr20!!)
2013-08-02 06:29:41 -07:00
Mauricio Carneiro 3e75262a3e Reference bias walker
Calculates reference bias based on the AD genotype field instead of AB. This is slightly more meaningful for indels and still a good estimator for snps.
2013-08-02 01:44:57 -04:00
Mauricio Carneiro 285ab2ac62 Better caching for the HaplotypeCaller
Problem
-------
Caching strategy is incompatible with the current sorting of the haplotypes, and is rendering the cache nearly useless.

Before the PairHMM updates, we realized that a lexicographically sorted list of haplotypes would optimize the use of the cache. This was only true until we've added the initial condition to the first row of the deletion matrix, which depends on the length of the haplotype. Because of that, every time the haplotypes differ in length, the cache has to be wiped. A lexicographic sorting of the haplotypes will put different lengths haplotypes clustered together therefore wasting *tons* of re-compute.

Solution
-------
Very simple. Sort the haplotypes by LENGTH and then in lexicographic order.
2013-08-02 01:27:29 -04:00
Eric Banks 0b062e7f22 Merge pull request #354 from broadinstitute/eb_fix_rr_count_encoding
Two reduce reads updates/fixes
2013-08-01 12:34:19 -07:00
Eric Banks e5be038f1a Added error handling to the newly added sites iterator so that it doesn't NPE when it encounters a bad record.
Added a unit test that exactly replicates the behavior.
2013-08-01 15:25:20 -04:00
Eric Banks 1e396af4d0 Two reduce reads updates/fixes:
1. Removing old legacy code that was capping the positional depth for reduced reads to 127.

Unfortunately this cap affectively performs biased down-sampling and throws off e.g. FS numbers.
Added end to end unit test that depth counts in RR can be higher than max byte.

Some md5s change in the RR tests because depths are now (correctly) no longer capped at 127.

2. Down-sampling in ReduceReads was not safe as it could remove het compressed consensus reads.

Refactored it so that it can only remove non-consensus reads.
2013-08-01 14:34:59 -04:00
Eric Banks ec3c885a25 Merge pull request #353 from broadinstitute/rp_HC_updates_for_1000G_and_WGS_calling
Max number of haplotypes to evaluate no longer grows unbounded with the ...
2013-07-31 08:29:06 -07:00
Ryan Poplin 4f3411f3d4 Max number of haplotypes to evaluate no longer grows unbounded with the number of samples. This is necessary for multi-sample calling projects with over 100 samples. 2013-07-31 10:48:55 -04:00
Yossi Farjoun 00cedd0bd3 Merge pull request #352 from broadinstitute/yf_SNPEFF_Stratifier
moved SnpEffUtilUnitTest to public tree
2013-07-30 14:52:33 -07:00
Yossi Farjoun 284176cd7b moved SnpEffUtilUnitTest to public tree 2013-07-30 17:51:40 -04:00
droazen b8709b1942 Merge pull request #332 from broadinstitute/st_fpga_hmm
FPGA support for PairHMM
2013-07-30 14:21:21 -07:00
Eric Banks ac06829194 Merge pull request #349 from broadinstitute/yf_SNPEFF_Stratifier
Adding a representation of the hierarchy of flags output by snpEff (Yoss...
2013-07-30 12:42:25 -07:00
Joseph Rose d2860a5486 Adding a representation of the hierarchy of flags output by snpEff (Yossi) and a stratifier whose output states are coding regions, genes, stop_gain, stop_lost and splice sites, all determined by the snpEff hierarchy (J. Rose) 2013-07-30 15:38:32 -04:00
Mauricio Carneiro 7b731dd596 Removed native method call
and fixed indentation.
2013-07-30 13:59:58 -04:00
chartl cf46256356 Merge pull request #350 from broadinstitute/chartl_genotypeconcordance_doc_cleanup
Add <pre> tags to the Genotype Concordance docs. Tables were not being d...
2013-07-29 16:17:26 -07:00
Chris Hartl 464a5b229d Add <pre> tags to the Genotype Concordance docs. Tables were not being displayed properly. 2013-07-29 15:48:17 -07:00
Eric Banks 678d038c76 Merge pull request #348 from broadinstitute/gg_gatkdoc_fixes
Gg gatkdoc fixes
2013-07-26 13:17:51 -07:00
Geraldine Van der Auwera 3063d82797 Fixed example in CallableLoci gatkdoc 2013-07-26 15:51:31 -04:00
Geraldine Van der Auwera fc4a8b1dd0 Fixed example in DoC gatkdoc 2013-07-26 15:51:30 -04:00
Geraldine Van der Auwera 660b075900 Added deprecation notice for SomaticIndelDetector 2013-07-26 15:51:30 -04:00
Geraldine Van der Auwera 5ad99c362d Added caveat to gatkdocs for MAPQ read transformers & cleaned up AB annotation gatkdocs 2013-07-26 15:51:30 -04:00
Geraldine Van der Auwera 0ea3f8ca58 Added function to gatkdocs to specify what VCF field an annotation goes in (INFO or FORMAT) 2013-07-26 15:51:30 -04:00
Geraldine Van der Auwera edbd17b8e0 Added note of caution to VQSR gatkdocs for option BOTH of recalibration mode 2013-07-26 15:51:29 -04:00
Ryan Poplin f52196496d Merge pull request #347 from broadinstitute/eb_more_dnagling_tail_improvements
More specific fix for the dangling tail edge case with a single leading deletion.
2013-07-26 07:25:47 -07:00
Ryan Poplin 66db412ad0 Merge pull request #345 from broadinstitute/rp_vqsr_sort_annotations
Automatically order the annotation dimensions in the VQSR by their stand...
2013-07-26 07:23:42 -07:00
Ryan Poplin 8c205dda1b Automatically order the annotation dimensions in the VQSR by their standard deviation instead of the order they were specified on the command line. 2013-07-26 10:22:43 -04:00
Eric Banks 924d9b7ef4 Merge pull request #344 from lbergelson/lb_library_read_filter
Adding LibraryReadFilter.
2013-07-26 06:44:53 -07:00
Louis Bergelson 7c43b5f26a Adding LibraryReadFilter.
--Moving LibraryReadFilter which has been part of Mutect into gatk public.
--Added an additional check for null values.
2013-07-26 09:32:14 -04:00
Eric Banks 9372c5ef41 Merge pull request #334 from broadinstitute/mc_generic_input_for_qualify_missing_intervals
QualifyMissingIntervals: support different formats
2013-07-25 12:39:26 -07:00
sathibault 71eb944e62 Adding CnyPairHMMUnitTest 2013-07-25 14:19:50 -05:00
Eric Banks 1b25cf471c Merge pull request #341 from broadinstitute/eb_make_all_rr_stranded
Eb make all rr stranded
2013-07-25 11:50:43 -07:00
Eric Banks 5dfa863caa Fully stranded implementation of RR (plus bug fix for insertions and het compression).
Now only filtered reads are unstranded.  All consensus reads have strand, so that we
emit 2 consensus reads in general now: one for each strand.

This involved some refactoring of the sliding window which cleaned it up a lot.

Also included is a bug fix:
insertions downstream of a variant region weren't triggering a stop to the compression.
2013-07-25 14:48:53 -04:00
Eric Banks 0a2b5ddadf More specific fix for the dangling tail edge case with a single leading deletion.
The previous fix was too general (and therefore incorrect) and caused the HC to exception out.
Added "unit" test for this exact case.
2013-07-25 12:24:46 -04:00
Mauricio Carneiro 31ab0824b1 quick indentation fixes to FPGA code 2013-07-24 14:09:49 -04:00
Ryan Poplin e5aab22680 Merge pull request #342 from broadinstitute/eb_fix_mq_in_rbp
Fixing ReadBackedPileup to represent mapping qualities as ints, not (signed) bytes.
2013-07-24 09:42:13 -07:00
Eric Banks 6df43f730a Fixing ReadBackedPileup to represent mapping qualities as ints, not (signed) bytes.
Having them as bytes caused problems for downstream programmers who had data with high MQs.
2013-07-23 23:47:15 -04:00
Eric Banks 71222bff45 Merge pull request #340 from broadinstitute/eb_fix_okaytomiss_arg
Various updates for KB, mostly so that reviews through IGV work properly...
2013-07-21 19:01:01 -07:00
Eric Banks 672fbe437e Various updates for KB, mostly so that reviews through IGV work properly.
1. Fix for the -okayToMiss argument for indels.
In cases where we make calls with different alleles, it wasn't allowing us to skip the site for FNs.

2. Need to add confidence and isComplexEvent attributes to the equality and duplicate checks in MVC.

3. Treat unknown confidences as reviewed for now.
We need this until IGV gets updated to use confidences for reviews.
2013-07-21 21:20:05 -04:00
David Roazen 224fec7379 parallel test runner: automount triggers
Try to reduce the number of tests failing with file not found
errors due to random automount failures by cd'ing into a
preset list of directories at the start of each job in an
effort to trigger automount.
2013-07-19 15:13:11 -04:00
David Roazen c72880f1d0 build.xml: make ant -p output only important build targets
ant -p outputs only targets that have description attributes.
Modify build.xml so only important targets that users might actually
want to use are output by ant -p.
2013-07-19 14:35:00 -04:00
Eric Banks c7c65502b4 Merge pull request #339 from broadinstitute/gda_1000g_calling
Committing staging/calling 1000g script to posterity
2013-07-19 09:47:39 -07:00
Guillermo del Angel b0e7ffb931 Committing staging/calling 1000g script to posterity 2013-07-19 12:16:53 -04:00