The second pass of the contrastive VQSRv2.
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/*
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* Copyright (c) 2010 The Broad Institute
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*
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* Permission is hereby granted, free of charge, to any person
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* obtaining a copy of this software and associated documentation
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* files (the "Software"), to deal in the Software without
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* restriction, including without limitation the rights to use,
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* copy, modify, merge, publish, distribute, sublicense, and/or sell
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* copies of the Software, and to permit persons to whom the
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* Software is furnished to do so, subject to the following
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* conditions:
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*
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* The above copyright notice and this permission notice shall be
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* included in all copies or substantial portions of the Software.
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*
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* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND,
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* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES
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* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND
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* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT
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* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY,
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* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING
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* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR
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* THE USE OR OTHER DEALINGS IN THE SOFTWARE.
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*/
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package org.broadinstitute.sting.playground.gatk.walkers.variantrecalibration;
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import org.broad.tribble.util.variantcontext.VariantContext;
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import org.broad.tribble.vcf.*;
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import org.broadinstitute.sting.commandline.*;
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import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
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import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
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import org.broadinstitute.sting.gatk.datasources.rmd.ReferenceOrderedDataSource;
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import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
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import org.broadinstitute.sting.gatk.walkers.RodWalker;
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import org.broadinstitute.sting.utils.*;
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import org.broadinstitute.sting.utils.collections.NestedHashMap;
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import org.broadinstitute.sting.utils.exceptions.UserException;
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import org.broadinstitute.sting.utils.text.XReadLines;
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import org.broadinstitute.sting.utils.vcf.VCFUtils;
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import java.io.File;
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import java.io.FileNotFoundException;
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import java.lang.Double;
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import java.util.*;
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/**
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* Applies cuts to the input vcf file (by adding filter lines) to achieve the desired novel FDR levels which were specified during VariantRecalibration
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*
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* @author rpoplin
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* @since Mar 14, 2011
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*
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* @help.summary Applies cuts to the input vcf file (by adding filter lines) to achieve the desired novel FDR levels which were specified during VariantRecalibration
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*/
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public class ApplyRecalibration extends RodWalker<Integer, Integer> {
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/////////////////////////////
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// Inputs
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/////////////////////////////
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@Output(fullName="recal_file", shortName="recalFile", doc="The output recal file used by ApplyRecalibration", required=true)
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private File RECAL_FILE;
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@Input(fullName="tranches_file", shortName="tranchesFile", doc="The input tranches file describing where to cut the data", required=true)
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private File TRANCHES_FILE;
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/////////////////////////////
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// Outputs
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/////////////////////////////
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@Output( doc="The output filtered, recalibrated VCF file", required=true)
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private VCFWriter vcfWriter = null;
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/////////////////////////////
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// Command Line Arguments
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/////////////////////////////
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@Argument(fullName="fdr_filter_level", shortName="fdr_filter_level", doc="The FDR level at which to start filtering.", required=false)
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private double FDR_FILTER_LEVEL = 1.0;
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/////////////////////////////
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// Private Member Variables
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/////////////////////////////
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final private List<Tranche> tranches = new ArrayList<Tranche>();
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final private Set<String> inputNames = new HashSet<String>();
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final private NestedHashMap lodMap = new NestedHashMap();
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//---------------------------------------------------------------------------------------------------------------
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//
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// initialize
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//
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//---------------------------------------------------------------------------------------------------------------
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public void initialize() {
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for ( Tranche t : Tranche.readTranches(TRANCHES_FILE) ) {
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if ( t.fdr >= FDR_FILTER_LEVEL) {
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tranches.add(t);
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//statusMsg = "Keeping, above FDR threshold";
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}
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logger.info(String.format("Read tranche " + t));
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}
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Collections.reverse(tranches); // this algorithm wants the tranches ordered from worst to best
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for( ReferenceOrderedDataSource d : this.getToolkit().getRodDataSources() ) {
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if( d.getName().startsWith("input") ) {
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inputNames.add(d.getName());
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logger.info("Found input variant track with name " + d.getName());
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} else {
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logger.info("Not evaluating ROD binding " + d.getName());
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}
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}
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if( inputNames.size() == 0 ) {
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throw new UserException.BadInput( "No input variant tracks found. Input variant binding names must begin with 'input'." );
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}
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// setup the header fields
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final Set<VCFHeaderLine> hInfo = new HashSet<VCFHeaderLine>();
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hInfo.addAll(VCFUtils.getHeaderFields(getToolkit(), inputNames));
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final TreeSet<String> samples = new TreeSet<String>();
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samples.addAll(SampleUtils.getUniqueSamplesFromRods(getToolkit(), inputNames));
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if( tranches.size() >= 2 ) {
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for( int iii = 0; iii < tranches.size() - 1; iii++ ) {
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Tranche t = tranches.get(iii);
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hInfo.add(new VCFFilterHeaderLine(t.name, String.format("FDR tranche level at VSQ Lod: " + t.minVQSLod + " <= x < " + tranches.get(iii+1).minVQSLod)));
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}
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}
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if( tranches.size() >= 1 ) {
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hInfo.add(new VCFFilterHeaderLine(tranches.get(0).name + "+", String.format("FDR tranche level at VQS Lod < " + tranches.get(0).minVQSLod)));
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} else {
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throw new UserException("No tranches were found in the file or were above the FDR Filter level " + FDR_FILTER_LEVEL);
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}
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logger.info("Keeping all variants in tranche " + tranches.get(tranches.size()-1));
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final VCFHeader vcfHeader = new VCFHeader(hInfo, samples);
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vcfWriter.writeHeader(vcfHeader);
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try {
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logger.info("Reading in recalibration table...");
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for ( final String line : new XReadLines( RECAL_FILE ) ) {
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final String[] vals = line.split(",");
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lodMap.put( Double.parseDouble(vals[2]), vals[0], Integer.parseInt(vals[1]));
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}
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} catch ( FileNotFoundException e ) {
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throw new UserException.CouldNotReadInputFile(RECAL_FILE, e);
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}
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}
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//---------------------------------------------------------------------------------------------------------------
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//
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// map
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//
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//---------------------------------------------------------------------------------------------------------------
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public Integer map( RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context ) {
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if( tracker == null ) { // For some reason RodWalkers get map calls with null trackers
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return 1;
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}
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for( VariantContext vc : tracker.getVariantContexts(ref, inputNames, null, context.getLocation(), true, false) ) {
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if( vc != null ) {
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String filterString = null;
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final Double lod = (Double) lodMap.get( ref.getLocus().getContig(), ref.getLocus().getStart() );
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if( !vc.isFiltered() ) {
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try {
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for( int i = tranches.size() - 1; i >= 0; i-- ) {
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Tranche tranche = tranches.get(i);
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if( lod >= tranche.minVQSLod ) {
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if (i == tranches.size() - 1) {
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filterString = VCFConstants.PASSES_FILTERS_v4;
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} else {
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filterString = tranche.name;
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}
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break;
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}
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}
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if( filterString == null ) {
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filterString = tranches.get(0).name+"+";
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}
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if ( !filterString.equals(VCFConstants.PASSES_FILTERS_v4) ) {
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Set<String> filters = new HashSet<String>();
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filters.add(filterString);
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vc = VariantContext.modifyFilters(vc, filters);
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}
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} catch ( Exception e ) {
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throw new UserException.MalformedFile(vc.getSource(), "Invalid value for VQS key " + ContrastiveRecalibrator.VQS_LOD_KEY + " at variant " + vc, e);
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}
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}
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final Map<String, Object> attrs = new HashMap<String, Object>(vc.getAttributes());
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if(lod != null) {
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attrs.put(ContrastiveRecalibrator.VQS_LOD_KEY, String.format("%.4f", lod));
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}
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VariantContext newVC = VariantContext.modifyPErrorFiltersAndAttributes(vc, vc.getNegLog10PError(), new HashSet<String>(), attrs);
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vcfWriter.add( newVC, ref.getBase() );
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}
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}
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return 1; // This value isn't used for anything
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}
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//---------------------------------------------------------------------------------------------------------------
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//
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// reduce
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//
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//---------------------------------------------------------------------------------------------------------------
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public Integer reduceInit() {
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return 1; // This value isn't used for anything
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}
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public Integer reduce( final Integer mapValue, final Integer reduceSum ) {
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return 1; // This value isn't used for anything
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}
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public void onTraversalDone( Integer reduceSum ) {
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}
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}
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