-- Assembly graph building now returns an object that describes whether the graph was successfully built and has variation, was succesfully built but didn't have variation, or truly failed in construction. Fixing an annoying bug where you'd prefectly assembly the sequence into the reference graph, but then return a null graph because of this, and you'd increase your kmer because it null was also used to indicate assembly failure
--
-- Output format looks like:
20 10026072 . T <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:3,0:3:9:0,9,120
20 10026073 . A <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:3,0:3:9:0,9,119
20 10026074 . T <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:3,0:3:9:0,9,121
20 10026075 . T <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:3,0:3:9:0,9,119
20 10026076 . T <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:3,0:3:9:0,9,120
20 10026077 . T <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:3,0:3:9:0,9,120
20 10026078 . C <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:5,0:5:15:0,15,217
20 10026079 . A <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:6,0:6:18:0,18,240
20 10026080 . G <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:6,0:6:18:0,18,268
20 10026081 . T <NON_REF> . . . GT:AD:DP:GQ:PL 0/0:7,0:7:21:0,21,267
We use a symbolic allele to indicate that the site is hom-ref, and because we have an ALT allele we can provide AD and PL field values. Currently these are calculated as ref vs. any non-ref value (mismatch or insertion) but doesn't yet account properly for alignment uncertainty.
-- Can we enabled for single samples with --emitRefConfidence (-ERC).
-- This is accomplished by realigning the each read to its most likley haplotype, and then evaluting the resulting pileups over the active region interval. The realignment is done by the HaplotypeBAMWriter, which now has a generalized interface that lets us provide a ReadDestination object so we can capture the realigned reads
-- Provide access to the more raw LocusIteratorByState constructor so we can more easily make them programmatically without constructing lots of misc. GATK data structures. Moved the NO_DOWNSAMPLING constant from LIBSDownsamplingInfo to LocusIteratorByState so clients can use it without making LIBSDownsamplingInfo a public class.
-- Includes GVCF writer
-- Add 1 mb of WEx data to private/testdata
-- Integration tests for reference model output for WGS and WEx data
-- Emit GQ block information into VCF header for GVCF mode
-- OutputMode from StandardCallerArgumentCollection moved to UnifiedArgumentCollection as its no longer relevant for HC
-- Control max indel size for the reference confidence model from the command line. Increase default to 10
-- Don't use out_mode in HaplotypeCallerComplexAndSymbolicVariantsIntegrationTest
-- Unittests for ReferenceConfidenceModel
-- Unittests for new MathUtils functions
-- The previous code would adapter clip before reverting soft clips, so because we only clip the adapter when it's actually aligned (i.e., not in the soft clips) we were actually not removing bases in the adapter unless at least 1 bp of the adapter was aligned to the reference. Terrible.
-- Removed the broken logic of determining whether a read adaptor is too long.
-- Doesn't require isProperPairFlag to be set for a read to be adapter clipped
-- Update integration tests for new adapter clipping code
-Explicitly state that -dcov does not produce an unbiased random sampling from all available reads
at each locus, and that instead it tries to maintain an even representation of reads from
all alignment start positions (which, of course, is a form of bias)
-Recommend -dfrac for users who want a true across-the-board unbiased random sampling
There are a few pipeline test classes that do not run Queue, but are
classified as pipeline tests because they submit farm jobs. Make these
unconventional pipeline tests respect the pipeline test dry run setting.
This is used in conjunction with the -BAM argument in AssessNA12878 and is necessary for the
Jenkins assessment to work properly (Ryan's commit wasn't enough).
I "fixed" this once before but instead of testing with unit tests I used integration tests.
Bad decision.
The proper fix is in now, with a bonafide unit test included.
1. MergeIntervalLists should take the global interval padding into account when merging.
2. Update the name of the imported callsets in the setup script because of renaming for expanded intervals.
3. If there are too many intervals to process, MongoDB falls apart. Refactored the site selection code so
that in such cases we pull out all records from the DB and the GATK itself does the interval filtering.
4. Add isComplex to callset summary for the consensus summarizer.
5. Remove the check for out of order records in the SiteIterator since records now do come out of order
(since contigs are sorted lexicographically in MongoDB).
Results:
Iteration over the gencode intervals (90 MB) in AssessNA12878 now takes 90 seconds. I can't tell you how
much time it took before because it kept crashing Mongo (but it was a long, long time).
Previous fixes and tests only covered trailing soft-clips. Now that up front
hard-clipping is working properly though, we were failing on those in the tool.
Added a patch for this as well as a separate test independent of the soft-clips
to make sure that it's working properly.
* Increase the memory limit for HTSLIB - Bam shuffling just eats up a ton of memory.
* Concurrent HTSLIB processes need unique temp files the bam shuffling step was messing up with the temporary files and failing without returning zero. Fixed it by giving a unique name to each process.
This time we don't accidentally drop reads (phew), but this bug does cause us not to
update the alignment start of the mate. Fixed and added unit test to cover it.
-- Added experimental LikelihoodRankSum, which required slightly more detailed access to the information managed by the base class, so added an overloaded getElementForRead also provides access to the MostLikelyAllele class
-- Added base class default implementation of getElementForPileupElement() which returns null, indicating that the pileup version isn't supported.
-- Added @Override to many of the RankSum classes for safety's sake
-- Updates to GeneralCallingPipeline: annotate sites with dbSNP IDs,
-- R script to assess the value of annotations for VQSR
-- The VR, when the model is bad, may evaluate log10sumlog10 where some of the values in the vector are NaN. This case is now trapped in VR and handled as previously -- indicating that the model has failed and evaluation continues.
-- Currently we don't support writing a BAM file from the haplotype caller when nct is enabled. Check in initialize if this is the case, and throw a UserException
Github was intermittently rejecting large pushes that were in fact
fast-forward updates as being non-fast-forward. Try to prevent this
by ensuring that all refs are up-to-date and properly checked out
after branch filtering and before doing a source release.
Mark DePristo
droazen
Khalid Shakir
Francesco
Mauricio Carneiro
Ryan Poplin
Eric Banks
Jacob Silterra
Valentin Ruano-Rubio
Yossi Farjoun