gatk-3.8/public/java/src/org/broadinstitute/sting/alignment/AlignmentValidation.java

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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.alignment;
import org.broadinstitute.sting.alignment.bwa.BWAConfiguration;
import org.broadinstitute.sting.alignment.bwa.BWTFiles;
import org.broadinstitute.sting.alignment.bwa.c.BWACAligner;
import org.broadinstitute.sting.commandline.Argument;
import org.broadinstitute.sting.gatk.CommandLineGATK;
import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.ReadMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.ReadWalker;
import org.broadinstitute.sting.utils.BaseUtils;
import org.broadinstitute.sting.utils.exceptions.ReviewedStingException;
import org.broadinstitute.sting.utils.help.DocumentedGATKFeature;
import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
import java.util.Iterator;
/**
* Validates consistency of the aligner interface by taking reads already aligned by BWA in a BAM file, stripping them
* of their alignment data, realigning them, and making sure one of the best resulting realignments matches the original
* alignment from the input file.
*
* @author mhanna
* @version 0.1
*/
@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} )
public class AlignmentValidation extends ReadWalker<Integer,Integer> {
/**
* The supporting BWT index generated using BWT.
*/
@Argument(fullName="BWTPrefix",shortName="BWT",doc="Index files generated by bwa index -d bwtsw",required=false)
private String prefix = null;
/**
* The instance used to generate alignments.
*/
private BWACAligner aligner = null;
/**
* Create an aligner object. The aligner object will load and hold the BWT until close() is called.
*/
@Override
public void initialize() {
if(prefix == null)
prefix = getToolkit().getArguments().referenceFile.getAbsolutePath();
BWTFiles bwtFiles = new BWTFiles(prefix);
BWAConfiguration configuration = new BWAConfiguration();
aligner = new BWACAligner(bwtFiles,configuration);
}
/**
* Aligns a read to the given reference.
*
* @param ref Reference over the read. Read will most likely be unmapped, so ref will be null.
* @param read Read to align.
* @return Number of reads aligned by this map (aka 1).
*/
@Override
public Integer map(ReferenceContext ref, GATKSAMRecord read, ReadMetaDataTracker metaDataTracker) {
//logger.info(String.format("examining read %s", read.getReadName()));
byte[] bases = read.getReadBases();
if(read.getReadNegativeStrandFlag()) bases = BaseUtils.simpleReverseComplement(bases);
boolean matches = true;
Iterable<Alignment[]> alignments = aligner.getAllAlignments(bases);
Iterator<Alignment[]> alignmentIterator = alignments.iterator();
if(!alignmentIterator.hasNext()) {
matches = read.getReadUnmappedFlag();
}
else {
Alignment[] alignmentsOfBestQuality = alignmentIterator.next();
for(Alignment alignment: alignmentsOfBestQuality) {
matches = (alignment.getContigIndex() == read.getReferenceIndex());
matches &= (alignment.getAlignmentStart() == read.getAlignmentStart());
matches &= (alignment.isNegativeStrand() == read.getReadNegativeStrandFlag());
matches &= (alignment.getCigar().equals(read.getCigar()));
matches &= (alignment.getMappingQuality() == read.getMappingQuality());
if(matches) break;
}
}
if(!matches) {
logger.error("Found mismatch!");
logger.error(String.format("Read %s:",read.getReadName()));
logger.error(String.format(" Contig index: %d",read.getReferenceIndex()));
logger.error(String.format(" Alignment start: %d", read.getAlignmentStart()));
logger.error(String.format(" Negative strand: %b", read.getReadNegativeStrandFlag()));
logger.error(String.format(" Cigar: %s%n", read.getCigarString()));
logger.error(String.format(" Mapping quality: %s%n", read.getMappingQuality()));
for(Alignment[] alignmentsByScore: alignments) {
for(int i = 0; i < alignmentsByScore.length; i++) {
logger.error(String.format("Alignment %d:",i));
logger.error(String.format(" Contig index: %d",alignmentsByScore[i].getContigIndex()));
logger.error(String.format(" Alignment start: %d", alignmentsByScore[i].getAlignmentStart()));
logger.error(String.format(" Negative strand: %b", alignmentsByScore[i].isNegativeStrand()));
logger.error(String.format(" Cigar: %s", alignmentsByScore[i].getCigarString()));
logger.error(String.format(" Mapping quality: %s%n", alignmentsByScore[i].getMappingQuality()));
}
}
throw new ReviewedStingException(String.format("Read %s mismatches!", read.getReadName()));
}
return 1;
}
/**
* Initial value for reduce. In this case, validated reads will be counted.
* @return 0, indicating no reads yet validated.
*/
@Override
public Integer reduceInit() { return 0; }
/**
* Calculates the number of reads processed.
* @param value Number of reads processed by this map.
* @param sum Number of reads processed before this map.
* @return Number of reads processed up to and including this map.
*/
@Override
public Integer reduce(Integer value, Integer sum) {
return value + sum;
}
/**
* Cleanup.
* @param result Number of reads processed.
*/
@Override
public void onTraversalDone(Integer result) {
aligner.close();
super.onTraversalDone(result);
}
}