/* * Copyright (c) 2009 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 net.sf.samtools.SAMRecord; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.walkers.DuplicateWalker; import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.Pair; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.cmdLine.Argument; import org.broadinstitute.sting.utils.duplicates.DupUtils; import org.broadinstitute.sting.utils.duplicates.DuplicateComp; import java.io.PrintStream; import java.util.ArrayList; import java.util.List; import java.util.Set; class MismatchCounter { long nObs = 0; long nMismatches = 0; public void inc(long incNObs, long incNMismatches) { nObs += incNObs; nMismatches += incNMismatches; } public void inc(boolean mismatchP) { inc(1, mismatchP ? 1 : 0); } public double mismatchRate() { return (double)nMismatches / nObs; } public byte empiricalQualScore() { return QualityUtils.probToQual(1 - mismatchRate(), 0); } public String headerString() { return "mismatchRate\tempiricalQ\tnObs\tnMismatches"; } public String toString() { return String.format("%.10f\t%d\t%d\t%6d", mismatchRate(), empiricalQualScore(), nObs, nMismatches); } } class QualityTracker { final private int MAX_QUAL_SCORE = 100; MismatchCounter[][] mismatchesByQ = new MismatchCounter[MAX_QUAL_SCORE][MAX_QUAL_SCORE]; public QualityTracker() { for ( int i = 0; i < MAX_QUAL_SCORE; i++ ) { for ( int j = 0; j < MAX_QUAL_SCORE; j++ ) { mismatchesByQ[i][j] = new MismatchCounter(); } } } public void inc(int b1Qi, int b2Qi, boolean mismatchP, boolean orderDependent) { int b1Q = orderDependent ? b1Qi : Math.max(b1Qi, b2Qi); int b2Q = orderDependent ? b2Qi : Math.min(b1Qi, b2Qi); if ( b1Q > MAX_QUAL_SCORE ) throw new RuntimeException("Unexpectedly large base quality " + b1Q); if ( b2Q > MAX_QUAL_SCORE ) throw new RuntimeException("Unexpectedly large base quality " + b2Q); mismatchesByQ[b1Q][b2Q].inc(mismatchP); } public void inc(DuplicateComp dc, boolean orderDependent) { inc(dc.getQLarger(), dc.getQSmaller(), dc.isMismatchP(), orderDependent); } public int probMismatchQ1Q2(int q1, int q2) { double e1 = 1 - QualityUtils.qualToProb(q1); double e2 = 1 - QualityUtils.qualToProb(q2); double eMM = e1 * (1 - e2) + (1 - e1) * e2 - 1/3 * e1 * e2; return QualityUtils.probToQual(1 - eMM, 0.0); } public void printToStream(PrintStream out, boolean filterUnobserved) { out.printf("Q1\tQ2\tQmin\t%s%n", mismatchesByQ[0][0].headerString()); for ( int i = 0; i < MAX_QUAL_SCORE; i++ ) { for ( int j = 0; j < MAX_QUAL_SCORE; j++ ) { MismatchCounter mc = mismatchesByQ[i][j]; //System.out.printf("MC = %s%n", mc); if ( filterUnobserved && mc.nObs == 0 ) continue; out.printf("%d\t%d\t%d\t%s\t%n", i, j, probMismatchQ1Q2(i,j), mc.toString()); } } } } public class DuplicateQualsWalker extends DuplicateWalker, QualityTracker> { @Argument(fullName="filterUnobservedQuals", required=false, doc="Show only quality bins with at least one observation in the data") public boolean FILTER_UNOBSERVED_QUALS = false; @Argument(fullName="maxPairwiseCompsPerDupSet", required=false, doc="Maximumize number of pairwise comparisons to perform among duplicate read sets") public int MAX_PAIRSIZE_COMPS_PER_DUPLICATE_SET = 100; @Argument(fullName="combinedQuals", required=false, doc="Combine and assess pairwise base qualities") public boolean COMBINE_QUALS = false; @Argument(fullName="combineAllDups", required=false, doc="Combine and assess pairwise base qualities") public boolean COMBINE_ALL_DUPS = false; @Argument(fullName="orderDependent", required=false, doc="") public boolean orderDependent = false; @Argument(fullName="compareToUniqueReads", required=false, doc="If true, then we will compare only to unique (i.e., non-duplicated molecules) at the same duplicate site") public boolean compareToUniqueReads = false; @Argument(fullName="comparePairToSingleton", required=false, doc="If true, then we will compare a combined dup to a random other read in the duplicate set, not a combined pair itself") public boolean comparePairToSingleton = false; final boolean DEBUG = false; final private boolean ACTUALLY_DO_WORK = true; public void onTraversalDone(QualityTracker result) { result.printToStream(out, FILTER_UNOBSERVED_QUALS); } public QualityTracker reduceInit() { return new QualityTracker(); } public QualityTracker reduce(List dupComps, QualityTracker tracker) { for ( DuplicateComp dc : dupComps ) { tracker.inc(dc, orderDependent); } return tracker; } // Print out data for regression public List map(GenomeLoc loc, AlignmentContext context, Set> readSets ) { //logger.info(String.format("%s has %d duplicates and %d non-duplicates", loc, duplicateReads.size(), uniqueReads.size())); List pairwiseComps = new ArrayList(); // todo -- fixme -- the logic here is all wrong given new interface // if ( ! ACTUALLY_DO_WORK ) // return pairwiseComps; // // if ( COMBINE_QUALS ) { // Pair combinedReads = DupUtils.combinedReadPair( duplicateReads ); // if ( combinedReads != null ) { // SAMRecord combined1 = combinedReads.first; // SAMRecord combined2 = combinedReads.second; // // if ( comparePairToSingleton ) // pairwiseComps = addPairwiseMatches( pairwiseComps, combined1, duplicateReads.get(2), uniqueReads ); // else // pairwiseComps = addPairwiseMatches( pairwiseComps, combined1, combined2, uniqueReads ); // } // } else { // int nComparisons = 0; // for ( SAMRecord read1 : duplicateReads ) { // for ( SAMRecord read2 : duplicateReads ) { // if ( read1.hashCode() < read2.hashCode() && DupUtils.usableDuplicate(read1, read2) ) { // // the hashcode insures we don't do A vs. B and B vs. A // //System.out.printf("Comparing %s against %s%n", read1, read2); // nComparisons++; // pairwiseComps = addPairwiseMatches( pairwiseComps, read1, read2, uniqueReads ); // if ( nComparisons > MAX_PAIRSIZE_COMPS_PER_DUPLICATE_SET ) // break; // } // } // } // } return pairwiseComps; } private List addPairwiseMatches(List comps, SAMRecord read1, SAMRecord read2, List uniqueReads ) { if ( compareToUniqueReads ) { // we want to compare to a read in the unique read set if ( uniqueReads.size() > 0 ) { // there's actually something to compare to SAMRecord uniqueRead = uniqueReads.get(0); // might as well get the first one return pairwiseMatches(comps, read1, uniqueRead); } else { return comps; } } else { // default, just do read1 vs. read2 return pairwiseMatches(comps, read1, read2); } } /** * Calculates the pairwise mismatches between reads read1 and read2 and adds the result to the comps list. * Doesn't contain any logic deciding what to compare, just does read1 and read2 * * @param comps * @param read1 * @param read2 * @return */ private List pairwiseMatches(List comps, SAMRecord read1, SAMRecord read2 ) { byte[] read1Bases = read1.getReadBases(); byte[] read1Quals = read1.getBaseQualities(); byte[] read2Bases = read2.getReadBases(); byte[] read2Quals = read2.getBaseQualities(); for ( int i = 0; i < read1Bases.length; i++) { byte qual1 = read1Quals[i]; byte qual2 = read2Quals[i]; boolean mismatchP = ! BaseUtils.basesAreEqual(read1Bases[i], read2Bases[i]); DuplicateComp dc = new DuplicateComp(qual1, qual2, mismatchP); comps.add(dc); } return comps; } }