/* * 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.vcftools; import org.broad.tribble.vcf.VCFRecord; 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.*; import org.broadinstitute.sting.gatk.walkers.DataSource; import org.broadinstitute.sting.gatk.walkers.RMD; import org.broadinstitute.sting.gatk.walkers.Requires; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.varianteval.MendelianViolationEvaluator; import org.broadinstitute.sting.commandline.Argument; import org.broadinstitute.sting.utils.genotype.vcf.VCFWriter; import java.util.Arrays; import java.util.List; import java.util.Map; /** * Test routine for new VariantContext object */ @Requires(value={DataSource.REFERENCE},referenceMetaData={@RMD(name="variants",type=ReferenceOrderedDatum.class), @RMD(name="beagle",type=BeagleROD.class)}) public class BeagleTrioToVCFWalker extends RodWalker { @Argument(shortName="trio", doc="If provide, treats the input VCF as a single record containing genotypes for a single trio; String formatted as dad+mom=child", required=false) protected String TRIO_STRUCTURE; @Argument(shortName="eth", fullName="excludeTripleHets", doc="If provide, sites that are triple hets calls will not be phased, regardless of Beagle's value", required=false) protected boolean dontPhaseTripleHets = false; int nTripletHets = 0; private MendelianViolationEvaluator.TrioStructure trio = null; private VCFWriter writer; private boolean headerWritten = false; private final static String TRACK_NAME = "variants"; private final static String BEAGLE_NAME = "beagle"; public void initialize() { trio = MendelianViolationEvaluator.parseTrioDescription(TRIO_STRUCTURE); writer = new VCFWriter(out); } public VariantContext map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { VariantContext vc = null; if ( ref != null ) { vc = tracker.getVariantContext(ref, TRACK_NAME, null, context.getLocation(), false); BeagleROD beagle = tracker.lookup(BEAGLE_NAME,BeagleROD.class); if ( vc != null ) { if ( ! headerWritten ) { VCFRecord vcfrod = tracker.lookup(TRACK_NAME,VCFRecord.class); writer.writeHeader(vcfrod.getHeader()); headerWritten = true; } //System.out.printf("VCF: %s%n", tracker.lookup(TRACK_NAME, null)); vc = maybePhaseVC(vc, beagle); } } if ( vc != null ) writer.addRecord(VariantContextAdaptors.toVCF(vc, ref.getBase())); return vc; } private VariantContext maybePhaseVC(VariantContext unphased, BeagleROD beagle) { if ( beagle == null ) { return unphased; } else { Map> bglData = beagle.getGenotypes(); List momBgl = bglData.get(trio.mom); List dadBgl = bglData.get(trio.dad); Genotype unphasedMom = unphased.getGenotype(trio.mom); Genotype unphasedDad = unphased.getGenotype(trio.dad); Genotype unphasedKid = unphased.getGenotype(trio.child); if ( dontPhaseTripleHets && unphasedMom.isHet() && unphasedDad.isHet() && unphasedKid.isHet() ) { nTripletHets++; return unphased; } else { Allele momTrans = unphased.getAllele(momBgl.get(0)); Allele momUntrans = unphased.getAllele(momBgl.get(1)); Allele dadTrans = unphased.getAllele(dadBgl.get(0)); Allele dadUntrans = unphased.getAllele(dadBgl.get(1)); Genotype momG = phaseGenotype(unphasedMom, Arrays.asList(momTrans, momUntrans)); Genotype dadG = phaseGenotype(unphasedDad, Arrays.asList(dadTrans, dadUntrans)); Genotype kidG = phaseGenotype(unphasedKid, Arrays.asList(momTrans, dadTrans)); return new VariantContext(unphased.getName(), unphased.getLocation(), unphased.getAlleles(), Arrays.asList(momG, dadG, kidG), unphased.getNegLog10PError(), unphased.getFilters(), unphased.getAttributes()); } } } private Genotype phaseGenotype(Genotype base, List alleles) { return new Genotype(base.getSampleName(), alleles, base.getNegLog10PError(), base.getFilters(), base.getAttributes(), true); } public Long reduceInit() { return 0L; } public Integer reduce(VariantContext point, Integer sum) { return sum; } public void onTraversalDone(Long result) { logger.info(String.format("Ignored phasing of %d het/het/het genotypes", nTripletHets)); //logger.info(String.format("Converted %d (%.2f%%) of these sites", result.nConverted, (100.0 * result.nConverted) / result.nVariants)); } public Long reduce(VariantContext vc, Long prevReduce) { return ( vc == null ? prevReduce : prevReduce+1); } }