/* * 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.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.contexts.variantcontext.VariantContext; import org.broadinstitute.sting.gatk.contexts.variantcontext.Genotype; import org.broadinstitute.sting.gatk.contexts.variantcontext.Allele; import org.broadinstitute.sting.gatk.refdata.*; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.Requires; import org.broadinstitute.sting.gatk.walkers.DataSource; import org.broadinstitute.sting.gatk.walkers.RMD; import org.broadinstitute.sting.utils.*; import org.broadinstitute.sting.commandline.Argument; import org.broadinstitute.sting.gatk.walkers.varianteval.MendelianViolationEvaluator; import java.util.EnumSet; import java.util.Arrays; /** * Test routine for new VariantContext object */ @Requires(value={DataSource.REFERENCE},referenceMetaData={@RMD(name="variants",type=ReferenceOrderedDatum.class)}) public class VCFToBeagleWalker 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; private MendelianViolationEvaluator.TrioStructure trio = null; public class Result { int nVariants, nConverted; } public void initialize() { if ( TRIO_STRUCTURE != null ) { trio = MendelianViolationEvaluator.parseTrioDescription(TRIO_STRUCTURE); out.printf("I id %s%n", Utils.join(" ", Arrays.asList(trio.mom, trio.mom, trio.dad, trio.dad, trio.child, trio.child))); } } public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { if ( ref != null ) { EnumSet allowedTypes = EnumSet.of(VariantContext.Type.SNP); VariantContext vc = tracker.getVariantContext(ref, "variants", allowedTypes, context.getLocation(), false); if ( vc != null && vc.isBiallelic() && vc.isNotFiltered() ) { if ( trio != null ) { // we are emitting a trio file if ( ! vc.hasGenotypes() || vc.getGenotypes().size() != 3 ) throw new StingException("Convertion exception: Trio conversion requires exactly three genotypes at every locus: " + vc); if ( genotypesAreGood(vc) ) { if ( ! genotypesAreGoodForTrios(vc, trio) ) { logger.debug("VC excluded due to poor trio genotyping " + vc); } else { Genotype mom = vc.getGenotype(trio.mom); Genotype dad = vc.getGenotype(trio.dad); Genotype child = vc.getGenotype(trio.child); // beagle format looks like: // // I id 1001 1001 1002 1002 1003 1003 // A diabetes 1 1 2 2 2 2 // M rs2289311 A G G G A G String loc = "c" + vc.getLocation().getContig() + "_p" + vc.getLocation().getStart(); out.printf("M %s %s %s %s%n", loc, genotype2BeagleString(mom), genotype2BeagleString(dad), genotype2BeagleString(child)); return 1; } } } else { throw new IllegalArgumentException("VCFToBeagle currently only supports conversion of trios. Complain to mark"); } } } return 0; } private String genotype2BeagleString(Genotype g) { return allele2BeagleString(g.getAllele(0)) + " " + allele2BeagleString(g.getAllele(1)); } private String allele2BeagleString(Allele a) { return new String(a.getBases()); } private static boolean genotypesAreGood(VariantContext vc) { for ( Genotype g : vc.getGenotypes().values() ) { if ( g.isFiltered() ) return false; } return true; } private static boolean genotypesAreGoodForTrios(VariantContext vc, MendelianViolationEvaluator.TrioStructure trio) { return ! MendelianViolationEvaluator.isViolation(vc, vc.getGenotype(trio.mom), vc.getGenotype(trio.dad), vc.getGenotype(trio.child)); } public Result reduceInit() { return new Result(); } public Result reduce(Integer point, Result sum) { sum.nVariants++; sum.nConverted += point; return sum; } public void onTraversalDone(Result result) { logger.info(String.format("Saw %d raw SNPs", result.nVariants)); logger.info(String.format("Converted %d (%.2f%%) of these sites", result.nConverted, (100.0 * result.nConverted) / result.nVariants)); } }