Commit Graph

13583 Commits (9ee9da36bb206d57b07987bdc10c9bbda69f3516)

Author SHA1 Message Date
Valentin Ruano-Rubio 9ee9da36bb Generalize the calculation of the genotype likelihoods in HC to cope with haploid and multiploidy
Changes in several walker to use new sample, allele closed lists and new GenotypingEngine constructors signatures

Rebase adoption of new calculation system in walkers
2014-08-19 11:53:06 -04:00
Valentin Ruano-Rubio f08dcbc160 Added the genotype likelihoods model interface and implementation for the random speciment sample from an infinite population with homogeneous ploidy accross samples. 2014-08-19 11:50:13 -04:00
Valentin Ruano-Rubio 4f993e8dbe Added read-likelihoods array base structure to substitute existing Map-of-Map-of-Maps. 2014-08-19 11:50:12 -04:00
Valentin Ruano-Rubio 242cd0e58f Added genotype allele counts and likelihood calculator utilities for arbitrary ploidy and number of alleles 2014-08-19 11:50:12 -04:00
Valentin Ruano-Rubio b0a4cb9f0c Added close sample and allele list data-structures and utility classes 2014-08-19 11:50:12 -04:00
Eric Banks 1af78f707e Merge pull request #707 from broadinstitute/eb_improve_physical_phasing
Updated the physical phasing in the Haplotype Caller to address requests...
2014-08-18 16:27:40 -04:00
Eric Banks d3f06024f8 Updated the physical phasing in the Haplotype Caller to address requests from ATGU.
1. It is now turned on by default
2. It now phases homozygous variants
3. Most importantly, it also phases variants that are always on opposite haplotypes

Changed the INFO keys to be PID and PGT, as described in the header.
2014-08-18 14:38:29 -04:00
Eric Banks 7e0c326e1c Merge pull request #706 from broadinstitute/vrr_reduce_hc_integration_test_time
Reduce intervals of integration tests in HaplotypeCallerIntegrationTest ...
2014-08-15 17:37:57 -04:00
Eric Banks cab02f8401 Merge pull request #703 from broadinstitute/eb_keep_original_ac_for_multiallelics
Update the --keepOriginalAC functionality in SelectVariants to work for ...
2014-08-15 17:36:32 -04:00
Valentin Ruano-Rubio 2f79042dee Reduce intervals of integration tests in HaplotypeCallerIntegrationTest class
Story:

   https://www.pivotaltracker.com/story/show/74858854

Changes:

    Intervals have been shrunk so that the test run in 15s or less.
2014-08-15 14:20:10 -04:00
Eric Banks eb84091702 Update the --keepOriginalAC functionality in SelectVariants to work for sites that lose alleles in the selection. 2014-08-14 15:34:09 -04:00
Ryan Poplin 20f72e1d0c Merge pull request #702 from broadinstitute/rp_fix_genotypeGVCFs_AD_ordering
Removing an assumption that ADs were in the same order if the number of ...
2014-08-13 15:00:48 -04:00
Ryan Poplin 3a9a78c785 Removing an assumption that ADs were in the same order if the number of alleles matched. This happens for example when one sample is C->T and another sample is C->G. 2014-08-13 13:26:40 -04:00
Eric Banks c6a96c3958 Merge pull request #688 from broadinstitute/ks_na12878kb_utils_sting_to_gatk_updates
Updated na12878kb-utils with classes from old ant StingUtils.jar.
2014-08-13 12:30:54 -04:00
Eric Banks 27193c5048 Merge pull request #700 from broadinstitute/eb_phase_HC_variants_PT74816060
Initial implementation of functionality to add physical phasing informat...
2014-08-13 12:30:32 -04:00
Eric Banks 4512940e87 Initial implementation of functionality to add physical phasing information to the output of the HaplotypeCaller.
If any pair of variants occurs on all used haplotypes together, then we propagate that information into the gVCF.
Can be enabled with the --tryPhysicalPhasing argument.
2014-08-13 12:25:31 -04:00
Eric Banks 149f98e28a Merge pull request #701 from broadinstitute/gg_amend_ET_doc_76823436
Clarified Phone Home system details re: privacy
2014-08-12 17:40:46 -04:00
Geraldine Van der Auwera 49702dc695 Clarified Phone Home system details re: privacy 2014-08-12 17:23:35 -04:00
jmthibault79 6d7201a7f8 Merge pull request #698 from broadinstitute/pd_printreads_subset
Improvements to read-group filtering in PrintReads
2014-08-12 14:13:07 -04:00
Valentin Ruano Rubio 1558f9c49a Merge pull request #628 from broadinstitute/vrr_per_read_allele_likelihoods
ReadLikelihoods container using arrays rather than Maps of Maps of Maps
2014-08-11 20:32:37 -04:00
Phillip Dexheimer 7e77875c81 Improvements to read-group filtering in PrintReads
- Read groups that are excluded by sample_name, platform, or read_group arguments no longer appear in the header
 - The performance penalty associated with filtering by read group has been essentially eliminated
 - Partial fulfillment of PT 73075482
2014-08-11 20:08:16 -04:00
Valentin Ruano-Rubio b39508cd15 ReadLikelihoods class introduction final changes before merging
Stories:

        https://www.pivotaltracker.com/story/show/70222086
        https://www.pivotaltracker.com/story/show/67961652

Changes:

  Done some changes that I missed in relation with making sure that all PairHMM implentations use the same interface; as a consequence we were running always the standard PairHMM.
  Fixed some additional bugs detected when running it on full wgs single sample and exom multi sample data set.
  Updated some integration test md5s.
2014-08-11 17:47:25 -04:00
Valentin Ruano-Rubio 9a9a68409e ReadLikelihoods class introduction final changes before merging
Stories:

        https://www.pivotaltracker.com/story/show/70222086
        https://www.pivotaltracker.com/story/show/67961652

Changes:

  Done some changes that I missed in relation with making sure that all PairHMM implentations use the same interface; as a consequence we were running always the standard PairHMM.
  Fixed some additional bugs detected when running it on full wgs single sample and exom multi sample data set.
  Updated some integration test md5s.

Fixing GraphBased bugs with new master code
Fixed ReadLikelihoods.changeReads difficult to spot bug.
Changed PairHMM interface to fix a bug
Fixed missing changes for various PairHMM implementations to get them to use the new structure.
Fixed various bugs only detectable when running with full sample(s).
Believe to have fixed the lack of annotations in UG runs
Fixed integrationt test MD5s
Updating some md5s
Fixed yet another md5 probably left out by mistake
2014-08-11 17:46:28 -04:00
Valentin Ruano-Rubio 0b472f6bff Added new test to verify the functionality of ReadLikelihoods.java and its use in HC. Updated existing integration test md5s.
Stories:

    https://www.pivotaltracker.com/story/show/70222086
    https://www.pivotaltracker.com/story/show/67961652
2014-08-11 17:46:28 -04:00
Valentin Ruano-Rubio 2914ecb585 Change the Map-of-maps-of-maps for an array based implementation ReadLikelihoods to hold read likelihoods.
The array structure should be faster to populate and query (no properly benchmarked) and reduce memory footprint considerably.
    Nevertheless removing PairHMM factor (using likelihoodEngine Random) it only achieves a speed up of 15% in some example WGS dataset
    i.e. there are other bigger bottle necks in the system. Bamboo tests also seem to run significantly faster with this change.

    Stories:

      https://www.pivotaltracker.com/story/show/70222086
      https://www.pivotaltracker.com/story/show/67961652

    Changes:

       - ReadLikelihoods added to substitute  Map<String,PerSampleReadLikelihoods>
       - Operation that involve changes in full sets of ReadLikelihoods have been moved into that class.
       - Simplified a bit the code that handles the downsampling of reads based on contamination

    Caveats:

       - Still we keep Map<String,PerReadAlleleLikelihoodsMap> around to pass to annotators..., didn't feel like change the interface of so many public classes in this pull-request.
2014-08-11 17:46:28 -04:00
Valentin Ruano-Rubio 09ac3779d6 Added ReadLikelihoods component to substitute Map<String,PerReadAlleleLikelihoodMap>.
It uses a more efficient java array[] based implementation and encapsulates operations perform with such a
read-likelihood collection such as marginalization, filtering by position, poor modeling or capping
worst likelihoods and so forth.

Stories:

          https://www.pivotaltracker.com/story/show/70222086
          https://www.pivotaltracker.com/story/show/67961652
2014-08-11 17:46:28 -04:00
Ryan Poplin c56e493f98 Merge pull request #622 from broadinstitute/ldg_SORanalysis
Add StrandOddsRatio to default annotations produced by GenotypeGVCFs
2014-08-11 09:45:27 -04:00
Eric Banks abcaba4bc3 Merge pull request #699 from broadinstitute/tf_hc_block_ranges
Changed the default GVCF Q Bands from 5,20,60 to be 1..60 by 1s, 60...90...
2014-08-08 16:10:23 -04:00
Tim Fennell 5695f22da8 Changed the default GVCF Q Bands from 5,20,60 to be 1..60 by 1s, 60...90 by 10s and 99 in order to give finer resolution
for homref PLs and ADs at lower confidences and somewhat higher resolution at higher confidences.
2014-08-08 14:31:35 -04:00
Laura Gauthier 35de598e4b Modify StrandOddsRatio calculation to take on lower values in cases where reference +/- reads are skewed but alt reads are not. Add SOR to default annotations produced by GenotypeGVCFs. Add jitter to minimum SOR values 2014-08-07 12:09:19 -04:00
ldgauthier 683baff375 Merge pull request #697 from broadinstitute/ldg_inbreedingCoeffForMultiallelics
Fix nullPointerException
2014-08-07 11:57:39 -04:00
Laura Gauthier f532f1f843 Fix nullPointerException 2014-08-07 10:13:17 -04:00
Eric Banks 0b72f7a16d Merge pull request #685 from broadinstitute/ldg_inbreedingCoeffForMultiallelics
Update inbreeding coefficient calculation to give a better estimate for ...
2014-08-07 09:00:09 -04:00
Laura Gauthier 74affcc077 Update inbreeding coefficient calculation to give a better estimate for multialleleic sites
Add unit test for compound het and for multiallelic hets
2014-08-07 08:12:47 -04:00
Eric Banks b9486f5b4d Merge pull request #693 from broadinstitute/ldg_SORfromHC
Allow SOR to be calculated from HC
2014-08-06 21:48:09 -04:00
Eric Banks 5f31e54d67 Merge pull request #696 from broadinstitute/pd_DoC_sorting
Fix sample sort order bug in DepthOfCoverage
2014-08-06 08:35:35 -04:00
Eric Banks 6fa4764fc1 Merge pull request #694 from broadinstitute/pd_check_missing_arg_values
Improved detection of missing argument values
2014-08-06 08:32:22 -04:00
Phillip Dexheimer b0c026e671 Fix sample sort order bug in DepthOfCoverage
Rare bug triggered by hash collision between sample names
 PT 66183936
2014-08-05 21:55:34 -04:00
Phillip Dexheimer 593663d9b6 Improved detection of missing argument values
In particular, it was possible to specify arguments for Files or Compound types without values
 Added a special "none" value for annotations, since a bare "-A" is no longer allowed
 Delivers PT 71792842 and 59360374
2014-08-05 20:31:31 -04:00
Eric Banks 03e7ee6e9c Merge pull request #695 from broadinstitute/pd_genotype_concordance_doc
Documentation fix (closed HTML tag)
2014-08-05 07:15:40 -04:00
Phillip Dexheimer 359fe150c9 Documentation fix (closed HTML tag) 2014-08-04 23:19:16 -04:00
Laura Gauthier 5533199402 Allow SOR to be calculated from HC
Refactor StrandBiasTest classes
2014-08-01 20:47:58 -04:00
Ryan Poplin e69b0d6316 Merge pull request #692 from broadinstitute/rp_typo_analyze_covariates
Fixing typos in AnalyzeCovariates
2014-07-31 10:39:31 -04:00
Ryan Poplin 63b3f7dfd3 Fixing typos in AnalyzeCovariates 2014-07-31 10:36:18 -04:00
Eric Banks 66ccc636b8 Merge pull request #691 from broadinstitute/ldg_update_htsjdk
Update GATK to work with latest htsjdk
2014-07-30 14:32:23 -04:00
Laura Gauthier 4373922ee6 Update GATK to work with latest htsjdk
ValidationStringency was moved from htsjdk.samtools.SAMFileReader to htsjdk.samtools
samtools find BAM index file method was also moved (and made public!)
2014-07-30 12:05:14 -04:00
Valentin Ruano Rubio d69af637bf Merge pull request #690 from broadinstitute/vrr_fix_non_diploid_unsupproted_message_in_haplotype_caller
Add diploid only support message to HaplotypeCaller
2014-07-29 22:50:00 -04:00
Valentin Ruano-Rubio 750eb4b5a6 Add diploid only support message to HaplotypeCaller
Story:

  https://www.pivotaltracker.com/story/show/73440292

Changes:

  - Just add the conditional in HaplotypeCaller#initialize

Testing:

  - Nothing added, checked locally, trivial change that would eventually be removed anyway.
2014-07-29 17:05:36 -04:00
Eric Banks 43bd6b4436 Merge pull request #689 from broadinstitute/eb_fix_samrecord_test_constructor
The copy constructor for a GATKSAMRecord (used for testing only) should ...
2014-07-23 23:03:30 -04:00
Eric Banks 84af1fc75f The copy constructor for a GATKSAMRecord (used for testing only) should use the actual read's contig index, not its mate's. 2014-07-23 15:31:03 -04:00