Commit Graph

25 Commits (4f7a64a79853863473a0ea1e0912db08b327ad3c)

Author SHA1 Message Date
depristo 4c6d0e6143 Added stratification by discrete allele count, just like AF, but requiring genotypes so it can be exact. Added docs on wiki, and integrationtest using Kiran's very nice fundamental VCF
VariantEvalWalker now passes a pointer to itself to the Stratefication setVariantEvalWalker (and assoc. get method) so that stratefications can look at VEWalker variables to obtain information necessary for their calculations, like the list of eval samples.  This is a better interface, in my opinion, than the current approach of extending the base abstract Stratefication to include an initialize function that has all arguments necessarily for any Strat.  
JEXL expressions now provide access to the VariantContext vc object itself, so you can write JEXL's that directly use VariantContext and associated functions from the command line.
ExomePostQC Queue script now creates a byAC eval using the new strat, and no longer produces a byAF file (as this was not exact, and lead to strange punctile behavior when actual AF quantization was out of sync with fix quantization of AF strat.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6015 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-19 03:11:00 +00:00
depristo 27d4b317fc Simple program that calls indels in CEU trio exomes and WGS can compared the results. Overall the indel calls really look good to me, given reasonably good input BAM files.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6006 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-16 12:56:04 +00:00
depristo 43fdd31e20 Significant performance optimization for reduced reads due to better algorithm for including reads in the variable regions. Fixed a critical bug that actually produced multiple copies of the same read in the variable regions with this optimization as well. Scala exploration script updated as well.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6005 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-16 12:54:59 +00:00
depristo 38d7733989 Now accepts any number of VCFs to evaluate. Runs the standard (now three) variant eval commands and invokes the exomeQC R script. Has some annoying assumptions about paths encoded right now. Example usage below:
setenv DATA ~/Desktop/broadLocal/localData/
java -Djava.io.tmpdir=tmp -jar ../dist/Queue.jar -S ../scala/qscript/oneoffs/depristo/ExomePostQCEval.scala --gatkjarfile ../dist/GenomeAnalysisTK.jar -R $DATA/human_g1k_v37.fasta $* -eval $DATA/ESPGO_Gabriel_NHLBI_eomi_june_2011_batch1.vcf -intervals ~/Desktop/broadLocal/localData/whole_exome_agilent_1.1_refseq_plus_3_boosters.Homo_sapiens_assembly19.targets.interval_list -dbSNP ~/Desktop/broadLocal/localData/dbsnp_132_b37.vcf -eval $DATA/ESPGO_Gabriel_NHLBI_eomi_june_2011_batch2.vcf

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@6004 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-16 12:49:54 +00:00
depristo 165befd38a V1 of the post processing QC plotting scala script and R function. The scala script runs VariantEval on a VCF file, and computes QC metrics. The R script generates the report. Will discuss usage with data processing group. Ryan -- please add your additional plotting routines to this script, as you see fit.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5980 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-13 17:06:42 +00:00
depristo 44287ea8dc ReducedBAM changes to downsample to a fixed coverage over the variable regions. Evaluation script now has filters and eval. commands.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5965 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-08 19:36:08 +00:00
depristo cd293f145b More stable reduced reads representation. Bug fixes throughout. No diffs by <1% of sites in an exome, and the majority of these differences are filtered out, or are obvious artifacts. UnitTests for BaseCounts. BaseCounts extended to handle indels, but not yet enabled in the consensus reads.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5939 348d0f76-0448-11de-a6fe-93d51630548a
2011-06-03 20:11:31 +00:00
depristo 549172af10 removing dependance on jobQueue == gsa
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5889 348d0f76-0448-11de-a6fe-93d51630548a
2011-05-27 10:12:09 +00:00
depristo 9423652ad8 Computes how well a genotype chip covers a reference panel
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5806 348d0f76-0448-11de-a6fe-93d51630548a
2011-05-14 15:07:28 +00:00
depristo 122d5845d3 GATK Resource bundle, latest version (now with b37 -> b36 support). Oneoff scala script that assesses chip coverage of calls
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5703 348d0f76-0448-11de-a6fe-93d51630548a
2011-04-27 22:01:36 +00:00
depristo 349661b958 Renamed StratifyAlignmentContext to AlignmentContextUtils, and StatiefyContextType to ReadOrientation. Also, went through the system and deleted all references to second bases. That ship passed long ago.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5563 348d0f76-0448-11de-a6fe-93d51630548a
2011-04-03 15:35:09 +00:00
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