Commit Graph

9413 Commits (1db2d1ba82dc84ec8e5c435ddeb89a6ca7af795f)

Author SHA1 Message Date
Mauricio Carneiro 1db2d1ba82 Do not add the first and last 4 cycles to the recalibration tables. 2012-04-27 15:18:07 -04:00
Mauricio Carneiro 08dbd756f3 Quick QC walkers to look at the error profile of indels in the read 2012-04-27 15:18:07 -04:00
Guillermo del Angel 24173d860a Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-27 14:41:38 -04:00
Guillermo del Angel 730208133b Several fixes and improvements to Pool caller with ancillary test functions (not done yet):
a) Utility class called Probability Vector that holds a log-probability vector and has the ability to clip ends that deviate largely from max value.
b) Used this class to hold site error model, since likelihoods of error model away from peak are so far down that it's not worth computing with them and just wastes time.
c) Expand unit tests and add an exhaustive test for ErrorModel class.
d) Corrected major math bug in ErrorModel uncovered by exhaustive test: log(e^x) is NOT x if log's base = 10.
e) Refactored utility functions that created artificial pileups for testing into separate class ArtificialPileupTestProvider. Right now functionality is limited (one artificial contig of 10 bp), can only specify pileups in one position with a given number of matches and mismatches to ref) but functionality will be expanded in future to cover more test cases.
f) Use this utility class for IndelGenotypeLikelihoods unit test and for PoolGenotypeLikelihoods unit test (the latter testing functionality still not done).
g) Linearized implementation of biallelic exact model (very simple approach, similar to diploid exact model, just abort if we're past the max value of AC distribution and below a threshold). Still need to add unit tests for this and to expand to multiallelic model.
h) Update integration test md5's due to minor differences stemming from linearized exact model and better error model math
2012-04-27 14:41:17 -04:00
Eric Banks da83076ab5 The name still sounds silly to me, but less silly than before 2012-04-27 14:39:47 -04:00
Eric Banks 959f5417f2 Handle complex multi-allelic events 2012-04-27 14:19:41 -04:00
Eric Banks 08bebcecbd Updating the status values 2012-04-27 14:07:48 -04:00
Eric Banks d8f6bc232b Adding support for non-haplotype-based comparison of multi-allelics (i.e. we do compare alleles and test for partial equality, but we don't construct haplotypes for this yet). 2012-04-27 13:43:52 -04:00
Eric Banks 1bbb156afa Fixing compile error 2012-04-27 12:52:39 -04:00
Eric Banks 0439047269 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-27 10:49:45 -04:00
Eric Banks 05b44dd017 The genotypeCounts array wasn't always being initialized before it was accessed, leading to a NPE (which got caught and thrown as a JEXL expression when used in selection). Added unit test to cover all genotype count methods. 2012-04-27 10:49:36 -04:00
Khalid Shakir 9801dd114f Bug fix for: https://getsatisfaction.com/gsa/topics/problem_with_indelrealigner_and_l_unmapped
The GATK -L unmapped is for GenomeLocs with SAMRecord.NO_ALIGNMENT_REFERENCE_NAME, not SAMRecord.getReadUnmappedFlag()
Previously unmapped flag reads in the last bin were being printed while also seeking for the reads without a reference contig.
2012-04-27 09:58:38 -04:00
Khalid Shakir 005cdcad5b Merge branch 'master' of ssh://gsa3.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-27 09:58:14 -04:00
Menachem Fromer 64077ec7c8 Add option to use XHMM to genotype all possible consecutive sub-segments of CNVs 2012-04-27 01:42:20 -04:00
Khalid Shakir 2ad1aa2a2c Merge branch 'master' of ssh://gsa3.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-26 19:31:47 -04:00
Eric Banks db41d10f54 First (very rough) version of a haplotype-based resolver of alleles from two provided VCF files. It works well on standard cases (e.g. MNP vs. 2 SNPs) but still needs to be tested more thoroughly and I need to add support for multi-allelics (although I know how to do that now). Being committed in private for Ryan's benefit, but no one else should be using it now. 2012-04-26 16:30:22 -04:00
Khalid Shakir b8c0405715 Updates to the WGP to only run eval on chr20.
PicardIntervals object now prints out a meaningful toString when HSP batches return multiple interval lists.
2012-04-26 16:28:45 -04:00
Guillermo del Angel 2f86ccb086 Correct md5's for previous code change 2012-04-26 16:20:41 -04:00
Guillermo del Angel 972d6531b6 Corner case fix for indel GL computation: sometimes (depending on surrounding context) reads which are not informative of two candidate haplotypes end up having marginally higher likelihoods with one haplotype as opposed to another, depending on uncertainty on alignments in surrounding regions. So, a sample whose GL is -0.0001,-0.0005,-0.001 may have its genotype set to 1/1 due to this statistical noise. We already have a tolerance comparing max(gl)-min(gl) to avoid genotyping, so this tolerance is now increased from 0.001 to 0.1 (equivalent to 1 PL unit) to avoid genotyping a sample if all PLs are within this threshold. Changed 2 integration test md5s that hit this case. 2012-04-26 10:15:26 -04:00
Laurent Francioli ab2a952ad1 PED support for Inbreeding Coefficient annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:56:47 -04:00
Laurent Francioli 219b0a128b PED support for ChromosomeCounts annotation
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:50:04 -04:00
Laurent Francioli 19d5213d5a Added function to get founders IDs in SampleDB
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:49:36 -04:00
Mark DePristo 120deaa010 Remove old licensing 2012-04-25 12:23:08 -04:00
Mark DePristo dab25afc88 Add warning message about ratios in variantQCreport, give ratio for MAF > 10% 2012-04-25 12:22:32 -04:00
Mauricio Carneiro 902277856e fix for RBP getPileupsForSamples()
do not differentiate per sample pileups from generic pileups. Do the same for both -- it's O(n) either way.
2012-04-24 17:20:30 -04:00
Mauricio Carneiro 82b4798913 CountBasesWalker -- a quick QC walker. 2012-04-24 17:20:30 -04:00
Mauricio Carneiro e440d0ce69 BQSR triage #4
* fixed queue script plot file names
   * updated the ReadGroupCovariate to use the platform unit instead of sample + lane.
   * fixed plotting of marginalized reported qualities
2012-04-24 17:19:54 -04:00
Eric Banks d6277b70d8 Forgot to consider the optimized case in hasAllele 2012-04-24 11:32:28 -04:00
Eric Banks 91bad244d5 Using a VCF whose ALT is the reference in GGA mode is a User Error 2012-04-24 11:08:37 -04:00
Eric Banks 74ad008163 Adding VariantContext.hasAlternateAllele functionality 2012-04-24 11:07:46 -04:00
Eric Banks 66f3315548 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-24 09:39:55 -04:00
Eric Banks bcb93dda5f Fixing docs (rank sum test values are not phred-scaled) 2012-04-24 09:39:42 -04:00
Mauricio Carneiro e39a59594a BQSR triage and test routines
* updated BQSR queue script for faster turnaround
   * implemented plot generation for scatter/gatherered runs
   * adjusted output file names to be cooperative with the queue script
   * added the recalibration report file to the argument table in the report
   * added ReadCovariates unit test -- guarantees that all the covariates are being generated for every base in the read
   * added RecalibrationReport unit test -- guarantees the integrity of the delta tables
2012-04-23 11:23:00 -04:00
Eric Banks a733723439 Merged bug fix from Stable into Unstable 2012-04-23 10:30:30 -04:00
Eric Banks 2761da975e Handle null VCs (which can arise when indels are present in the file) 2012-04-23 10:30:00 -04:00
Eric Banks cd63bcb1b8 Fixing unit tests to register the user exception being thrown (instead of the NumberFormatException) 2012-04-23 10:06:51 -04:00
Eric Banks 63aa79df82 Slightly better error message 2012-04-23 09:37:28 -04:00
Eric Banks 7b5fbf9567 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-23 09:34:08 -04:00
Eric Banks 4edb005411 Catch poorly formatted PL/GL fields 2012-04-23 09:33:50 -04:00
Ryan Poplin 35bb55f562 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-22 13:23:36 -04:00
Ryan Poplin 18e4532d10 Turning down the amount of assembly graph pruning slightly in the case of low coverage. 2012-04-22 13:23:24 -04:00
Menachem Fromer 10e0647347 Merge branch 'master' of ssh://copper.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-21 23:19:16 -04:00
Menachem Fromer 0630aa1cf0 Only build valid GenomeLoc loci; throw explicit exception when sample's BAM is not found 2012-04-21 23:18:41 -04:00
Eric Banks 1f23d99dfa If we are subsetting alleles in the UG (either because there were too many or because some were not polymorphic), then we may need to trim the alleles (because the original VariantContext may have had to pad at the end). Thanks to Ryan for reporting this. Only one of the integration tests had even partially covered this case, so I added one that did. 2012-04-20 17:00:05 -04:00
Eric Banks 4b81c75642 Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-20 14:30:19 -04:00
Eric Banks f1c5510ec0 When running SelectVariants with the excludeNonVariants option, remove alleles from the ALT field that are no longer polymorphic. 2012-04-20 14:30:04 -04:00
Ryan Poplin a1596791af Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable 2012-04-20 14:03:04 -04:00
Ryan Poplin a57295eb75 Fixing a bug when breaking up active regions where the resulting regions would overlap by one base. Adding quality score manipulation from the UG into the haplotype caller (qual capped by mapping quality, min qual threshold). 2012-04-20 14:02:55 -04:00
Menachem Fromer 40a247e860 Run HC and UG for comparison; run HC with genotypeFullActiveRegion to get phased genotypes 2012-04-20 13:33:09 -04:00
Ryan Poplin aa903de892 Hooking up the haplotype genotyping option requested by Menachem. 2012-04-20 11:46:37 -04:00