0c8e801021
Removing public to private dependency
2012-05-01 11:04:11 -04:00
462450c3e3
disabling all BQSR unit tests
...
with the changes to the cycle covariate, some tests need updates, others need to be completely re-written.
2012-04-30 14:39:55 -04:00
e185632013
Exhaustive unit tests for Pool SNP genotype likelihoods:
...
a) Add ability for ErrorModel to be specified by external log-probability vector for testing.
b) For a given depth and ploidy(=2*samples/pool), create artificial high quality pileup testing from AC=0 to AC=ploidy, and test that pool GL's have expected content.Misc. refactorings and cleanups
c) Misc. cleanups and beautification.
2012-04-30 14:29:46 -04:00
7d029b9a28
Merge branch 'master' of ssh://ni.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-30 12:16:30 -04:00
944a7d815e
Bringing VQSRV3 up to date. Lots of new features (un-classifying the worst-performing training sites, treating the x% best/worst sites as postive/negative points, ability to pass in a monomorphic track to see ROC curves output). Minor changes to AlleleBalance: weighted average was incorrectly specified (using logscale actually biased the average towards the AB of low-quality genotypes), and breaking out AB by het, hom, and diploid to bring it in line with some (private) changes to the indel likelihood model that (correctly) computes these values for indels.
2012-04-28 11:31:03 -04:00
54a9bc2da2
Bug fix in reverse trim alleles for the case of mixed records that become non-mixed after subsetting the alleles.
2012-04-28 09:12:26 -04:00
e332aeaf70
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-27 16:21:21 -04:00
2b5dd28550
Bug fix in reverse trim alleles for the case of mixed records.
2012-04-27 16:21:02 -04:00
1db2d1ba82
Do not add the first and last 4 cycles to the recalibration tables.
2012-04-27 15:18:07 -04:00
08dbd756f3
Quick QC walkers to look at the error profile of indels in the read
2012-04-27 15:18:07 -04:00
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
0439047269
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-27 10:49:45 -04:00
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
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
2f86ccb086
Correct md5's for previous code change
2012-04-26 16:20:41 -04:00
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
ab2a952ad1
PED support for Inbreeding Coefficient annotation
...
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:56:47 -04:00
219b0a128b
PED support for ChromosomeCounts annotation
...
Signed-off-by: Eric Banks <ebanks@broadinstitute.org>
2012-04-25 12:50:04 -04:00
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
dab25afc88
Add warning message about ratios in variantQCreport, give ratio for MAF > 10%
2012-04-25 12:22:32 -04:00
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
82b4798913
CountBasesWalker -- a quick QC walker.
2012-04-24 17:20:30 -04:00
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
d6277b70d8
Forgot to consider the optimized case in hasAllele
2012-04-24 11:32:28 -04:00
91bad244d5
Using a VCF whose ALT is the reference in GGA mode is a User Error
2012-04-24 11:08:37 -04:00
74ad008163
Adding VariantContext.hasAlternateAllele functionality
2012-04-24 11:07:46 -04:00
66f3315548
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-24 09:39:55 -04:00
bcb93dda5f
Fixing docs (rank sum test values are not phred-scaled)
2012-04-24 09:39:42 -04:00
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
a733723439
Merged bug fix from Stable into Unstable
2012-04-23 10:30:30 -04:00
2761da975e
Handle null VCs (which can arise when indels are present in the file)
2012-04-23 10:30:00 -04:00
cd63bcb1b8
Fixing unit tests to register the user exception being thrown (instead of the NumberFormatException)
2012-04-23 10:06:51 -04:00
63aa79df82
Slightly better error message
2012-04-23 09:37:28 -04:00
7b5fbf9567
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-23 09:34:08 -04:00
4edb005411
Catch poorly formatted PL/GL fields
2012-04-23 09:33:50 -04:00
35bb55f562
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-22 13:23:36 -04:00
18e4532d10
Turning down the amount of assembly graph pruning slightly in the case of low coverage.
2012-04-22 13:23:24 -04:00
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
4b81c75642
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-20 14:30:19 -04:00
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
a1596791af
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-20 14:03:04 -04:00
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
de68363c23
Removed experimental feature (aka hack) that was meant for 1000G consensus but remained in VQSR data manager - QD was being scaled by indel length. There's no evidence any more that QD is length-dependent, neither in CEU trio data nor in latest 1000G P2 calls
2012-04-20 10:58:34 -04:00
d2488dfb81
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-19 19:40:03 -04:00
c44c7b9a97
Restored optimization in Pair HMM only to compute HMM matrices starting in index where haplotypes start to diverge - saves about 15-20% of runtime which is what we lost by disabling banding in latest version, so runtime should be now about the same as what it was before refactoring. Output is bit-true to previous commit
2012-04-19 19:39:43 -04:00
0f8c77391d
BQSR bug triage #3
...
* fixed context covariate famous "off by one" error
* reduced maximum quality score to Q50 (following Eric/Ryan's suggestion)
* remove context downsampling in BQSR R script
2012-04-19 17:31:04 -04:00
df5dd841af
AC strat now checks if evals will be merged before throwing an error on multiple eval files.
...
Minor tweaks to WGP script based on new recal VCF format.
2012-04-19 16:08:55 -04:00
1ae2ab5b63
Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
2012-04-19 12:50:29 -04:00
0e6e0cb907
Merging bug fixes
2012-04-19 12:49:30 -04:00
79272c5e15
Thanks to Menachem for pointing out that the docs for genotyping_mode and output_mode were the same (and unclear). Fixed.
2012-04-19 12:48:09 -04:00
Eric Banks
Mauricio Carneiro
Guillermo del Angel
Christopher Hartl
Ryan Poplin
Khalid Shakir
Laurent Francioli
Mark DePristo