Commit Graph

14 Commits (7b452ea2b9ad2d2f3e8bbfcbfb0e818f0a87f18d)

Author SHA1 Message Date
depristo cdb0bde952 Bringing script up to date
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5526 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-27 20:49:07 +00:00
depristo bae0b6cba8 A script for playing with BEAGLE refinement parameters. Supports construction of reference panels from NGS data sets with varying niteration and calibration curve parameters, as well as imputing missing genotypes in a VCF with this reference panel, and comparison to a deeply sequenced individual.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5523 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-27 12:44:25 +00:00
kshakir f3e94ef2be Walkers can now specify a class extending from Gatherer to merge custom output formats. Add @Gather(MyGatherer.class) to the walker @Output.
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
2011-03-24 14:03:51 +00:00
depristo abc7d1aef9 BeagleOutputToVCF now accepts an option to keep monomorphic sites. This is useful to genotype a single sample, where having AC=0 just means that the sample is hom-ref at the site.
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
2011-03-18 03:08:38 +00:00
depristo d01d4fdeb5 Optimized version of produce beagle tool, along with experimental (hidden) support for combining likelihoods depending on estimate false positive rate.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5430 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-12 02:06:28 +00:00
depristo bf2e02f472 Generic, easy-to-use variant evaluation Queue script that tests indel and SNP call sets against standard evaluation data sets for sensitivity and specificity
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5391 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-07 18:03:29 +00:00
depristo 5c979633f0 Due to a problem in the way that dynamic type selection works, I've added an explicit (temporary) ability to restrict VE to specific variant types (SNPs, INDELs, etc), so that calculations will work when a site has a SNP in dbSNP but is called as an indel, causing the SNP site to mysteriously disappear from the comp track, a huge problem for validation report. VEU updated to allow both dynamic type (old) and just returning everything in the track.
Also, created a standard Queue script that calculates a suite of standard indel and SNP assessment results.  Will be the basis for a general evaluation Queue script with standardized data files for SNPs and Indels.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5385 348d0f76-0448-11de-a6fe-93d51630548a
2011-03-06 19:31:12 +00:00
depristo 146756de79 Class name to reflect actual file name. manySampleUGPerformance now operates on 1000 samples!
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5326 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-26 23:36:04 +00:00
depristo fe4aa58d35 Removing unused class
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5197 348d0f76-0448-11de-a6fe-93d51630548a
2011-02-04 22:22:28 +00:00
fromer 6c99dc4dab Take (partial) ownership of phasing 1000G chr20 calls
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5147 348d0f76-0448-11de-a6fe-93d51630548a
2011-01-31 21:49:41 +00:00
depristo 94b64ec54a Moving scala script into analysis directory
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5047 348d0f76-0448-11de-a6fe-93d51630548a
2011-01-21 18:42:18 +00:00
depristo b45566760e intermediate checkin
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5045 348d0f76-0448-11de-a6fe-93d51630548a
2011-01-21 18:39:25 +00:00
depristo 41c8552d0a Added implements HasGenomeLocation to all revelant classes. It's not possible to write generic code for working with objects that support the getLocation() function in HasGenomeLocation. Please, if you have an object that has a location, implement this interface and start using / writing generic functions to sort, compare, etc. these objects.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5031 348d0f76-0448-11de-a6fe-93d51630548a
2011-01-20 12:54:03 +00:00
chartl a463dbcda1 Refactoring the qscript directory; oneoffs, playground, and core
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5017 348d0f76-0448-11de-a6fe-93d51630548a
2011-01-19 15:23:40 +00:00