Small utility walker used for production of the Beagle data processing paper section. Walker will print out to output file, for every site common to a reference vcf and an eval vcf, a given sample's depth, hapmap AC and AF and pre/post Beagle genotype as well as corresponding reference (e.g. Hapmap) genotype.

git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3884 348d0f76-0448-11de-a6fe-93d51630548a
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delangel 2010-07-27 03:00:17 +00:00
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/*
* Copyright (c) 2010 The Broad Institute
*
* Permission is hereby granted, free of charge, to any person
* obtaining a copy of this software and associated documentation
* files (the "Software"), to deal in the Software without
* restriction, including without limitation the rights to use,
* copy, modify, merge, publish, distribute, sublicense, and/or sell
* copies of the Software, and to permit persons to whom the
* Software is furnished to do so, subject to the following
* conditions:
*
* The above copyright notice and this permission notice shall be
* included in all copies or substantial portions of the Software.
*
* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND,
* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES
* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND
* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT
* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY,
* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING
* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR
* THE USE OR OTHER DEALINGS IN THE SOFTWARE.
*/
package org.broadinstitute.sting.oneoffprojects.walkers;
import org.broad.tribble.vcf.VCFConstants;
import org.broad.tribble.vcf.VCFRecord;
import org.broad.tribble.vcf.VCFGenotypeRecord;
import org.broadinstitute.sting.commandline.Argument;
import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.contexts.variantcontext.Allele;
import org.broadinstitute.sting.gatk.contexts.variantcontext.Genotype;
import org.broadinstitute.sting.gatk.contexts.variantcontext.VariantContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.refdata.VariantContextAdaptors;
import org.broadinstitute.sting.gatk.walkers.RodWalker;
import org.broadinstitute.sting.gatk.walkers.RMD;
import org.broadinstitute.sting.gatk.walkers.Requires;
import org.broadinstitute.sting.utils.GenomeLoc;
import org.broadinstitute.sting.utils.StingException;
import java.io.PrintStream;
import java.util.*;
/**
* Produces an input file to Beagle imputation engine, listing genotype likelihoods for each sample in input VCF file
* @help.summary Produces an input file to Beagle imputation engine, listing genotype likelihoods for each sample in input VCF file
*/
//@Requires(value={},referenceMetaData=@RMD(name=BeagleOutputByDepthWalker.INPUT_EVAL_ROD_NAME,type= VCFRecord.class))
public class BeagleOutputByDepthWalker extends RodWalker<Integer, Integer> {
public static final String POSTBEAGLE_EVAL_ROD_NAME = "postbeaglevcf";
public static final String PREBEAGLE_EVAL_ROD_NAME = "prebeaglevcf";
public static final String INPUT_HAPMAP_ROD_NAME = "hapmap";
public static final String INPUT_COMP_ROD_NAME = "comp";
private boolean newLine = true;
@Argument(fullName = "output_file", shortName = "output", doc = "File to output results", required = true)
public PrintStream outputWriter = null;
public void initialize() {
}
public Integer map( RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context ) {
if( tracker != null ) {
GenomeLoc loc = context.getLocation();
VariantContext vc_postbgl = tracker.getVariantContext(ref,POSTBEAGLE_EVAL_ROD_NAME, null, loc, false);
VariantContext vc_prebgl = tracker.getVariantContext(ref,PREBEAGLE_EVAL_ROD_NAME, null, loc, false);
VariantContext vc_hapmap = tracker.getVariantContext(ref,INPUT_HAPMAP_ROD_NAME, null, loc, false);
VariantContext vc_comp = tracker.getVariantContext(ref,INPUT_COMP_ROD_NAME, null, loc, false);
if ( vc_postbgl == null || vc_prebgl == null || vc_comp == null)
return 0;
if (!vc_prebgl.hasGenotypes() || !vc_postbgl.hasGenotypes() )
return 0;
if (vc_postbgl.isFiltered())
return 0;
Map<String, Genotype> compGenotypes = vc_comp.getGenotypes();
Integer alleleCountH = 0, chrCountH = 0, alleleCountEmp=0, chrCountEmp=0;
// Get Hapmap AC and AF
if (vc_hapmap != null) {
Map<String, Genotype> hapmapGenotypes = vc_hapmap.getGenotypes();
for ( String sample : vc_postbgl.getSampleNames() ) {
// use sample as key into genotypes structure
if (vc_postbgl.getGenotypes().containsKey(sample) && hapmapGenotypes.containsKey(sample)) {
Genotype hapmapGenotype = hapmapGenotypes.get(sample);
if (hapmapGenotype.isCalled()){
chrCountH += 2;
if (hapmapGenotype.isHet()) {
alleleCountH += 1;
} else if (hapmapGenotype.isHomVar()) {
alleleCountH += 2;
}
}
}
}
}
else {
alleleCountH = -1;
chrCountH = -1;
}
chrCountEmp = vc_postbgl.getChromosomeCount();
//System.out.println(chrCountH);
if ( vc_postbgl.getAlternateAlleles().size() > 0 ) {
for ( Allele allele : vc_postbgl.getAlternateAlleles() ) {
alleleCountEmp = alleleCountEmp+vc_postbgl.getChromosomeCount(allele);
}
//System.out.println(alleleCountH);
}
for ( String sample : vc_postbgl.getSampleNames() ) {
if (sample.compareToIgnoreCase("NA12878")!=0)
continue;
// use sample as key into genotypes structure
Genotype postbglGenotype = vc_postbgl.getGenotype(sample);
Genotype prebglGenotype = vc_prebgl.getGenotype(sample);
Genotype compGenotype = compGenotypes.get(sample);
outputWriter.format("%d %d %d %d %d ", vc_postbgl.getLocation().getStart(), alleleCountH, chrCountH,
alleleCountEmp, chrCountEmp);
String dps = postbglGenotype.getAttributeAsString(VCFConstants.DEPTH_KEY);
int dp;
if (dps.compareTo(".")==0)
dp = -1;
else
dp = Integer.valueOf(dps);
int hg, bg, pg;
if (compGenotype.isNoCall())
hg = -1;
else if (compGenotype.isHomRef())
hg = 0;
else if (compGenotype.isHet())
hg = 1;
else if (compGenotype.isHomVar())
hg = 2;
else
throw new StingException("Bug! invalid genotype!");
if (postbglGenotype.isNoCall())
bg = -1;
else if (postbglGenotype.isHomRef())
bg = 0;
else if (postbglGenotype.isHet())
bg = 1;
else if (postbglGenotype.isHomVar())
bg = 2;
else
throw new StingException("Bug! invalid genotype!");
if (prebglGenotype.isNoCall())
pg = -1;
else if (prebglGenotype.isHomRef())
pg = 0;
else if (prebglGenotype.isHet())
pg = 1;
else if (prebglGenotype.isHomVar())
pg = 2;
else
throw new StingException("Bug! invalid genotype!");
outputWriter.format("%d %d %d %d\n",dp, hg, pg, bg);
}
return 1;
}
return 0;
}
public Integer reduceInit() {
return 0; // Nothing to do here
}
/**
* Increment the number of loci processed.
*
* @param value result of the map.
* @param sum accumulator for the reduce.
* @return the new number of loci processed.
*/
public Integer reduce(Integer value, Integer sum) {
return sum + value;
}
/**
* Tell the user the number of loci processed and close out the new variants file.
*
* @param result the number of loci seen.
*/
public void onTraversalDone(Integer result) {
out.printf("Processed %d loci.\n", result);
}
}