Merge branch 'master' of ssh://nickel.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable

This commit is contained in:
Eric Banks 2011-12-20 12:59:11 -05:00
commit 7204fcc2c3
14 changed files with 148 additions and 78 deletions

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@ -48,8 +48,16 @@ public class AlleleFrequencyCalculationResult {
double log10LikelihoodOfAFzero = 0.0; double log10LikelihoodOfAFzero = 0.0;
double log10PosteriorOfAFzero = 0.0; double log10PosteriorOfAFzero = 0.0;
AlleleFrequencyCalculationResult(int maxAltAlleles, int numChr) { public AlleleFrequencyCalculationResult(int maxAltAlleles, int numChr) {
log10AlleleFrequencyLikelihoods = new double[maxAltAlleles][numChr+1]; log10AlleleFrequencyLikelihoods = new double[maxAltAlleles][numChr+1];
log10AlleleFrequencyPosteriors = new double[maxAltAlleles][numChr+1]; log10AlleleFrequencyPosteriors = new double[maxAltAlleles][numChr+1];
} }
public double getLog10LikelihoodOfAFzero() {
return log10LikelihoodOfAFzero;
}
public double getLog10PosteriorOfAFzero() {
return log10PosteriorOfAFzero;
}
} }

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@ -38,10 +38,10 @@ public abstract class FrequencyModeSelector implements Cloneable{
protected FrequencyModeSelector(GenomeLocParser parser) { protected FrequencyModeSelector(GenomeLocParser parser) {
this.parser = parser; this.parser = parser;
} }
protected void logCurrentSiteData(VariantContext vc, VariantContext subVC) { protected void logCurrentSiteData(VariantContext vc, boolean passesCriteria) {
logCurrentSiteData(vc, subVC, false, false); logCurrentSiteData(vc, passesCriteria, false, false);
} }
protected abstract void logCurrentSiteData(VariantContext vc, VariantContext subVC, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC); protected abstract void logCurrentSiteData(VariantContext vc, boolean included, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC);
protected abstract ArrayList<VariantContext> selectValidationSites(int numValidationSites); protected abstract ArrayList<VariantContext> selectValidationSites(int numValidationSites);
} }

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@ -23,21 +23,52 @@
*/ */
package org.broadinstitute.sting.gatk.walkers.validation.validationsiteselector; package org.broadinstitute.sting.gatk.walkers.validation.validationsiteselector;
import org.broadinstitute.sting.gatk.walkers.genotyper.AlleleFrequencyCalculationResult;
import org.broadinstitute.sting.gatk.walkers.genotyper.ExactAFCalculationModel;
import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants;
import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException;
import org.broadinstitute.sting.utils.variantcontext.Allele;
import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContext;
import java.util.HashMap;
import java.util.List;
import java.util.Map;
import java.util.TreeSet; import java.util.TreeSet;
public class GLBasedSampleSelector extends SampleSelector { public class GLBasedSampleSelector extends SampleSelector {
public GLBasedSampleSelector(TreeSet<String> sm) { Map<Integer,double[][]> numAllelePriorMatrix = new HashMap<Integer,double[][]>();
double referenceLikelihood;
public GLBasedSampleSelector(TreeSet<String> sm, double refLik) {
super(sm); super(sm);
referenceLikelihood = refLik;
} }
public VariantContext subsetSiteToSamples(VariantContext vc) { public boolean selectSiteInSamples(VariantContext vc) {
/* todo - Look at sample array, and create a new vc with samples for which GL's indicate they should be included. if ( samples == null || samples.isEmpty() )
For example, include all samples (and corresponding genotypes) whose GL's are such that argmax(GL) = HET or HOMVAR. */ return true;
throw new ReviewedStingException("GLBasedSampleSelector not implemented yet!"); // want to include a site in the given samples if it is *likely* to be variant (via the EXACT model)
//return true; // first subset to the samples
VariantContext subContext = vc.subContextFromSamples(samples);
// now check to see (using EXACT model) whether this should be variant
// do we want to apply a prior? maybe user-spec?
double[][] flatPrior = createFlatPrior(vc.getAlleles());
AlleleFrequencyCalculationResult result = new AlleleFrequencyCalculationResult(vc.getAlternateAlleles().size(),2*samples.size());
ExactAFCalculationModel.linearExactMultiAllelic(subContext.getGenotypes(),vc.getAlternateAlleles().size(),flatPrior,result,true);
// do we want to let this qual go up or down?
if ( result.getLog10PosteriorOfAFzero() < referenceLikelihood ) {
return true;
}
return false;
}
private double[][] createFlatPrior(List<Allele> alleles) {
if ( ! numAllelePriorMatrix.containsKey(alleles.size()) ) {
numAllelePriorMatrix.put(alleles.size(), new double[alleles.size()][1+2*samples.size()]);
}
return numAllelePriorMatrix.get(alleles.size());
} }
} }

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@ -38,14 +38,18 @@ public class GTBasedSampleSelector extends SampleSelector{
super(sm); super(sm);
} }
public VariantContext subsetSiteToSamples(VariantContext vc) { public boolean selectSiteInSamples(VariantContext vc) {
// Super class already defined initialization which filled data structure "samples" with desired samples. // Super class already defined initialization which filled data structure "samples" with desired samples.
// We only need to check if current vc if polymorphic in that set of samples // We only need to check if current vc if polymorphic in that set of samples
if ( samples == null || samples.isEmpty() ) if ( samples == null || samples.isEmpty() )
return vc; return true;
return vc.subContextFromSamples(samples, vc.getAlleles()); VariantContext subContext = vc.subContextFromSamples(samples, vc.getAlleles());
if ( subContext.isPolymorphicInSamples() ) {
return true;
}
return false;
} }
} }

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@ -60,7 +60,7 @@ public class KeepAFSpectrumFrequencySelector extends FrequencyModeSelector {
postSampleSelectionHistogram = new int[NUM_BINS]; postSampleSelectionHistogram = new int[NUM_BINS];
} }
public void logCurrentSiteData(VariantContext vc, VariantContext subVC, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC) { public void logCurrentSiteData(VariantContext vc, boolean selectedInTargetSamples, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC) {
// this method is called for every variant of a selected type, regardless of whether it will be selectable or not // this method is called for every variant of a selected type, regardless of whether it will be selectable or not
// get AC,AF,AN attributes from vc // get AC,AF,AN attributes from vc
@ -107,7 +107,7 @@ public class KeepAFSpectrumFrequencySelector extends FrequencyModeSelector {
numTotalSites++; numTotalSites++;
// now process VC subsetted to samples of interest // now process VC subsetted to samples of interest
if (!subVC.isPolymorphicInSamples() && !IGNORE_POLYMORPHIC) if (! selectedInTargetSamples && !IGNORE_POLYMORPHIC)
return; return;
//System.out.format("Post:%4.4f %d\n",af0, binIndex); //System.out.format("Post:%4.4f %d\n",af0, binIndex);

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@ -33,8 +33,7 @@ public class NullSampleSelector extends SampleSelector{
super(sm); super(sm);
} }
public VariantContext subsetSiteToSamples(VariantContext vc) { public boolean selectSiteInSamples(VariantContext vc) {
return vc; return true;
} }
} }

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@ -34,7 +34,7 @@ public abstract class SampleSelector implements Cloneable {
samples = new TreeSet<String>(sm); samples = new TreeSet<String>(sm);
} }
protected abstract VariantContext subsetSiteToSamples(VariantContext vc); protected abstract boolean selectSiteInSamples(VariantContext vc);
} }

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@ -42,14 +42,14 @@ public class UniformSamplingFrequencySelector extends FrequencyModeSelector {
} }
public void logCurrentSiteData(VariantContext vc, VariantContext subVC, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC) { public void logCurrentSiteData(VariantContext vc, boolean selectedInTargetSamples, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC) {
HashMap<String, Object> attributes = new HashMap<String, Object>(); HashMap<String, Object> attributes = new HashMap<String, Object>();
if (vc.hasGenotypes() && !IGNORE_GENOTYPES) { if (vc.hasGenotypes() && !IGNORE_GENOTYPES) {
// recompute AF,AC,AN based on genotypes: // recompute AF,AC,AN based on genotypes:
VariantContextUtils.calculateChromosomeCounts(vc, attributes, false); VariantContextUtils.calculateChromosomeCounts(vc, attributes, false);
if (!subVC.isPolymorphicInSamples() && !IGNORE_POLYMORPHIC) if (! selectedInTargetSamples && !IGNORE_POLYMORPHIC)
return; return;
} else { } else {
if ( attributes.containsKey(VCFConstants.ALLELE_COUNT_KEY) ) { if ( attributes.containsKey(VCFConstants.ALLELE_COUNT_KEY) ) {

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@ -124,6 +124,10 @@ public class ValidationSiteSelectorWalker extends RodWalker<Integer, Integer> {
@Argument(fullName="sampleMode", shortName="sampleMode", doc="Sample selection mode", required=false) @Argument(fullName="sampleMode", shortName="sampleMode", doc="Sample selection mode", required=false)
private SAMPLE_SELECTION_MODE sampleMode = SAMPLE_SELECTION_MODE.NONE; private SAMPLE_SELECTION_MODE sampleMode = SAMPLE_SELECTION_MODE.NONE;
@Argument(shortName="samplePNonref",fullName="samplePNonref", doc="GL-based selection mode only: the probability" +
" that a site is non-reference in the samples for which to include the site",required=false)
private double samplePNonref = 0.99;
@Argument(fullName="numValidationSites", shortName="numSites", doc="Number of output validation sites", required=true) @Argument(fullName="numValidationSites", shortName="numSites", doc="Number of output validation sites", required=true)
private int numValidationSites; private int numValidationSites;
@ -231,13 +235,14 @@ public class ValidationSiteSelectorWalker extends RodWalker<Integer, Integer> {
continue; continue;
// do anything required by frequency selector before we select for samples // does this site pass the criteria for the samples we are interested in?
VariantContext subVC; boolean passesSampleSelectionCriteria;
if (samples.isEmpty()) if (samples.isEmpty())
subVC = vc; passesSampleSelectionCriteria = true;
else else
subVC = sampleSelector.subsetSiteToSamples(vc); passesSampleSelectionCriteria = sampleSelector.selectSiteInSamples(vc);
frequencyModeSelector.logCurrentSiteData(vc, subVC, IGNORE_GENOTYPES, IGNORE_POLYMORPHIC);
frequencyModeSelector.logCurrentSiteData(vc,passesSampleSelectionCriteria,IGNORE_GENOTYPES,IGNORE_POLYMORPHIC);
} }
return 1; return 1;
} }
@ -263,7 +268,7 @@ public class ValidationSiteSelectorWalker extends RodWalker<Integer, Integer> {
SampleSelector sm; SampleSelector sm;
switch ( sampleMode ) { switch ( sampleMode ) {
case POLY_BASED_ON_GL: case POLY_BASED_ON_GL:
sm = new GLBasedSampleSelector(samples); sm = new GLBasedSampleSelector(samples, Math.log10(1.0-samplePNonref));
break; break;
case POLY_BASED_ON_GT: case POLY_BASED_ON_GT:
sm = new GTBasedSampleSelector(samples); sm = new GTBasedSampleSelector(samples);

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@ -104,6 +104,10 @@ public class ClippingOp {
break; break;
case REVERT_SOFTCLIPPED_BASES:
read = revertSoftClippedBases(read);
break;
default: default:
throw new IllegalStateException("Unexpected Clipping operator type " + algorithm); throw new IllegalStateException("Unexpected Clipping operator type " + algorithm);
} }
@ -111,6 +115,38 @@ public class ClippingOp {
return read; return read;
} }
private GATKSAMRecord revertSoftClippedBases(GATKSAMRecord read) {
GATKSAMRecord unclipped;
// shallow copy of the read bases and quals should be fine here because they are immutable in the original read
try {
unclipped = (GATKSAMRecord) read.clone();
} catch (CloneNotSupportedException e) {
throw new ReviewedStingException("Where did the clone go?");
}
Cigar unclippedCigar = new Cigar();
int matchesCount = 0;
for (CigarElement element : read.getCigar().getCigarElements()) {
if (element.getOperator() == CigarOperator.SOFT_CLIP || element.getOperator() == CigarOperator.MATCH_OR_MISMATCH)
matchesCount += element.getLength();
else if (matchesCount > 0) {
unclippedCigar.add(new CigarElement(matchesCount, CigarOperator.MATCH_OR_MISMATCH));
matchesCount = 0;
unclippedCigar.add(element);
}
else
unclippedCigar.add(element);
}
if (matchesCount > 0)
unclippedCigar.add(new CigarElement(matchesCount, CigarOperator.MATCH_OR_MISMATCH));
unclipped.setCigar(unclippedCigar);
unclipped.setAlignmentStart(read.getAlignmentStart() + calculateAlignmentStartShift(read.getCigar(), unclippedCigar));
return unclipped;
}
/** /**
* Given a cigar string, get the number of bases hard or soft clipped at the start * Given a cigar string, get the number of bases hard or soft clipped at the start
*/ */
@ -472,7 +508,7 @@ public class ClippingOp {
for (CigarElement cigarElement : oldCigar.getCigarElements()) { for (CigarElement cigarElement : oldCigar.getCigarElements()) {
if (cigarElement.getOperator() == CigarOperator.HARD_CLIP || cigarElement.getOperator() == CigarOperator.SOFT_CLIP ) if (cigarElement.getOperator() == CigarOperator.HARD_CLIP || cigarElement.getOperator() == CigarOperator.SOFT_CLIP )
oldShift += Math.min(cigarElement.getLength(), newShift - oldShift); oldShift += cigarElement.getLength();
else if (readHasStarted) else if (readHasStarted)
break; break;
} }

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@ -29,5 +29,10 @@ public enum ClippingRepresentation {
* lossy) operation. Note that this can only be applied to cases where the clipped * lossy) operation. Note that this can only be applied to cases where the clipped
* bases occur at the start or end of a read. * bases occur at the start or end of a read.
*/ */
HARDCLIP_BASES HARDCLIP_BASES,
/**
* Turn all soft-clipped bases into matches
*/
REVERT_SOFTCLIPPED_BASES,
} }

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@ -213,4 +213,9 @@ public class ReadClipper {
} }
return clipRead(ClippingRepresentation.HARDCLIP_BASES); return clipRead(ClippingRepresentation.HARDCLIP_BASES);
} }
public GATKSAMRecord revertSoftClippedBases() {
this.addOp(new ClippingOp(0, 0)); // UNSOFTCLIP_BASES doesn't need coordinates
return this.clipRead(ClippingRepresentation.REVERT_SOFTCLIPPED_BASES);
}
} }

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@ -851,50 +851,6 @@ public class ReadUtils {
return new Pair<Integer, Boolean>(readBases, fallsInsideDeletion); return new Pair<Integer, Boolean>(readBases, fallsInsideDeletion);
} }
public static GATKSAMRecord unclipSoftClippedBases(GATKSAMRecord read) {
int newReadStart = read.getAlignmentStart();
int newReadEnd = read.getAlignmentEnd();
List<CigarElement> newCigarElements = new ArrayList<CigarElement>(read.getCigar().getCigarElements().size());
int heldOver = -1;
boolean sSeen = false;
for ( CigarElement e : read.getCigar().getCigarElements() ) {
if ( e.getOperator().equals(CigarOperator.S) ) {
newCigarElements.add(new CigarElement(e.getLength(),CigarOperator.M));
if ( sSeen ) {
newReadEnd += e.getLength();
sSeen = true;
} else {
newReadStart -= e.getLength();
}
} else {
newCigarElements.add(e);
}
}
// merge duplicate operators together
int idx = 0;
List<CigarElement> finalCigarElements = new ArrayList<CigarElement>(read.getCigar().getCigarElements().size());
while ( idx < newCigarElements.size() -1 ) {
if ( newCigarElements.get(idx).getOperator().equals(newCigarElements.get(idx+1).getOperator()) ) {
int combSize = newCigarElements.get(idx).getLength();
int offset = 0;
while ( idx + offset < newCigarElements.size()-1 && newCigarElements.get(idx+offset).getOperator().equals(newCigarElements.get(idx+1+offset).getOperator()) ) {
combSize += newCigarElements.get(idx+offset+1).getLength();
offset++;
}
finalCigarElements.add(new CigarElement(combSize,newCigarElements.get(idx).getOperator()));
idx = idx + offset -1;
} else {
finalCigarElements.add(newCigarElements.get(idx));
}
idx++;
}
read.setCigar(new Cigar(finalCigarElements));
read.setAlignmentStart(newReadStart);
return read;
}
/** /**
* Compares two SAMRecords only the basis on alignment start. Note that * Compares two SAMRecords only the basis on alignment start. Note that
* comparisons are performed ONLY on the basis of alignment start; any * comparisons are performed ONLY on the basis of alignment start; any

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@ -279,9 +279,9 @@ public class ReadClipperUnitTest extends BaseTest {
GATKSAMRecord read = ReadClipperTestUtils.makeReadFromCigar(cigar); GATKSAMRecord read = ReadClipperTestUtils.makeReadFromCigar(cigar);
GATKSAMRecord clippedRead = (new ReadClipper(read)).hardClipLeadingInsertions(); GATKSAMRecord clippedRead = (new ReadClipper(read)).hardClipLeadingInsertions();
int expectedLength = read.getReadLength() - leadingInsertionLength(read.getCigar()); int expectedLength = read.getReadLength() - leadingCigarElementLength(read.getCigar(), CigarOperator.INSERTION);
if (cigarHasElementsDifferentThanInsertionsAndHardClips(read.getCigar())) if (cigarHasElementsDifferentThanInsertionsAndHardClips(read.getCigar()))
expectedLength -= leadingInsertionLength(ReadClipperTestUtils.invertCigar(read.getCigar())); expectedLength -= leadingCigarElementLength(ReadClipperTestUtils.invertCigar(read.getCigar()), CigarOperator.INSERTION);
if (! clippedRead.isEmpty()) { if (! clippedRead.isEmpty()) {
Assert.assertEquals(expectedLength, clippedRead.getReadLength(), String.format("%s -> %s", read.getCigarString(), clippedRead.getCigarString())); // check that everything else is still there Assert.assertEquals(expectedLength, clippedRead.getReadLength(), String.format("%s -> %s", read.getCigarString(), clippedRead.getCigarString())); // check that everything else is still there
@ -293,6 +293,27 @@ public class ReadClipperUnitTest extends BaseTest {
} }
} }
@Test(enabled = true)
public void testRevertSoftClippedBases()
{
for (Cigar cigar: cigarList) {
final int leadingSoftClips = leadingCigarElementLength(cigar, CigarOperator.SOFT_CLIP);
final int tailSoftClips = leadingCigarElementLength(ReadClipperTestUtils.invertCigar(cigar), CigarOperator.SOFT_CLIP);
final GATKSAMRecord read = ReadClipperTestUtils.makeReadFromCigar(cigar);
final GATKSAMRecord unclipped = (new ReadClipper(read)).revertSoftClippedBases();
if ( leadingSoftClips > 0 || tailSoftClips > 0) {
final int expectedStart = read.getAlignmentStart() - leadingSoftClips;
final int expectedEnd = read.getAlignmentEnd() + tailSoftClips;
Assert.assertEquals(unclipped.getAlignmentStart(), expectedStart);
Assert.assertEquals(unclipped.getAlignmentEnd(), expectedEnd);
}
else
Assert.assertEquals(read.getCigarString(), unclipped.getCigarString());
}
}
private void assertNoLowQualBases(GATKSAMRecord read, byte low_qual) { private void assertNoLowQualBases(GATKSAMRecord read, byte low_qual) {
@ -304,12 +325,12 @@ public class ReadClipperUnitTest extends BaseTest {
} }
private boolean startsWithInsertion(Cigar cigar) { private boolean startsWithInsertion(Cigar cigar) {
return leadingInsertionLength(cigar) > 0; return leadingCigarElementLength(cigar, CigarOperator.INSERTION) > 0;
} }
private int leadingInsertionLength(Cigar cigar) { private int leadingCigarElementLength(Cigar cigar, CigarOperator operator) {
for (CigarElement cigarElement : cigar.getCigarElements()) { for (CigarElement cigarElement : cigar.getCigarElements()) {
if (cigarElement.getOperator() == CigarOperator.INSERTION) if (cigarElement.getOperator() == operator)
return cigarElement.getLength(); return cigarElement.getLength();
if (cigarElement.getOperator() != CigarOperator.HARD_CLIP) if (cigarElement.getOperator() != CigarOperator.HARD_CLIP)
break; break;