1-10mb of chromosome one, from NA12878 HiSeq 64x data set on hg18:
Full BAM
Write time: 8.6 m
Size: 866M
CountReads time: 2.9 m
UG time: 11.3 m
Simplified BAM:
Write time: 6.2
Size: 458M
CountReads time: 85.7 s
UG time: 10.1 m
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5517 348d0f76-0448-11de-a6fe-93d51630548a
Fixed escaping expressions that have more than one space between arguments.
Updated example to match the wiki.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5516 348d0f76-0448-11de-a6fe-93d51630548a
VCF gathering passes on the no_header and sites_only flags to CombineVariants.
Fixed deletion of gathered log files. Although they are intermediate and do not need to be re-run if not present, they should not be deleted.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5508 348d0f76-0448-11de-a6fe-93d51630548a
JavaCommandLineFunctions can now specify the classpath+mainclass as an alternative to specifying a path to an executable jar.
JCLF by default pass on the current classpath and only require the mainclass be specified by the developer extending the JCLF, relieving the QScript author from having to explicitly specify the jar.
Like the Picard MergeSamFiles, GATK engine by default is now run from the current classpath. The GATK can still be overridden via .jarFile or .javaClasspath.
Walkers from the GATK package are now also embedded into the Queue package.
Updated AnalyzeCovariates to make it easier to guess the main class, AnalyzeCovariates instead of AnalyzeCovariatesCLP.
Removed the GATK jar argument from the example QScripts.
Removed one of the most FAQ when getting started with Scala/Queue, the use of Option[_] in QScripts:
1) Fixed mistaken assumption with java enums. In java enums can be null so they don't need nullable wrappers.
2) Added syntactic sugar for Nullable primitives to the QScript trait. Any variable defined as Option[Int] can just be assigned an Int value or None, ex: myFunc.memoryLimit = 3
Removed other unused code.
Re-fixed dry run function ordering.
Re-ordered the QCommandline companion object so that IntelliJ doesn't complain about missing main methods.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5504 348d0f76-0448-11de-a6fe-93d51630548a
schedule file infrastructure has been restored, and is now a single file.
Only the exact bins required for the traversal are stored in the schedule.
Very close to being able to merge schedule entries.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5497 348d0f76-0448-11de-a6fe-93d51630548a
- now it differentiates between confident REF calls and not confident calls.
- you can now use a BAM file as the truth set.
- output is much clearer now
dataProcessingPipeline version 2, ready to be used.
- All the processing is now done at the sample level
- Reads the input bam file headers to combine all lanes of the same sample.
- Cleaning is now scattered/gathered. Inteligently breaks down in as many intervals as possible, given the dataset.
- Outputs one processed bam file per sample (and a .list file with all processed files listed)
- Much faster, low pass (read Papuans) can run in the hour queue.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5493 348d0f76-0448-11de-a6fe-93d51630548a
ProduceBeagleInputWalker can optionally emit a beagle markers file, necessary to use the beagled reference panel for imputation. Also supports the VQSR calibration curve idea that a site can be flagged as a certain FP, based on the VQSLOD field. This allows us to have both continuous quality in the refinement of sites as well as hard filtering at some threshold so we don't end up with lots of sites with all 1/3 1/3 1/3 likelihoods for all samples (i.e., a definite FP site where we don't know anything about the samples).
Added a new VariantsToBeagleUnphased walker that writes out a marker drive hard-call unphased genotypes file suitable for imputating missing genotypes with a reference panel with beagle. Can optionally keep back a fraction of sites, marked as missing in the genotypes file, for assessment of imputation accuracy and power. The bootstrap sites can be written to a separate VCF for assessment as well.
Finally, my general Queue script for creating and evaluating reference panels from VCF files. Supports explicitly genotyping a BAM file at each panel SNP site, for assessment of imputation accuracy of a reference panel. Lots of options for exploring the impact of the VQS likelihooods, multiple VCFs for constructing the reference panel, as well as fraction of sites left out in assessing the panel's power.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5467 348d0f76-0448-11de-a6fe-93d51630548a
a) Scrapped the way in which we constructed candidate haplotypes because it wasnt fully correct and yielded corner conditions with incorrect genotyping and likelihood computation. Ideally, a haplotype should "cover" the read and the most likely alignments should be such that the ends of the read are inside the ends of the haplotype. This wasn't happening, and if you have a "dangling read off a haplotype" the probabilistic alignment model may prefer to shift a read instead of scoring it correctly - this is especially bad with tandem repeat insertions.
So now, we build haplotypes based on the reference context and adaptively change them based on read alignment positions, plus some padding and uncertainty in the alignment.
b) Changed the way soft clipped based are dealt with. Instead of either ignoring them or using them, we only use them if the read start or end position (after soft clipping) are within eventDistance of the current location. This is done because it's very common that BWA's strictly local SW implementation will soft clip every single read at an insertion position because it couldn't place that end of the read without too many mismatches, but the read is legit and the bases are good quality. If we don't take these bases into consideration, reads which are informative of an insertion event are essentially discarded because the informative part is clipped away.
c) Several cleanups and fixes to the context-dependent gap penalty model based on length of HRun.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5464 348d0f76-0448-11de-a6fe-93d51630548a
indexes'. Not yet elegant, but proves that it circumvents the performance
issues associated with the meta-index.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5454 348d0f76-0448-11de-a6fe-93d51630548a
depristo
kshakir
chartl
hanna
delangel
carneiro
ebanks
kiran
asivache
fromer
corin