AFCR made public (for use in VSS)
Minor changes to ValidationSiteSelector logic (SampleSelectors determine whether a site is valid for output, no actual subset context need be operated on beyond that determination). Implementation of GL-based site selection. Minor changes to EJG.
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339ef92eac
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67298f8a11
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@ -48,8 +48,16 @@ public class AlleleFrequencyCalculationResult {
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double log10LikelihoodOfAFzero = 0.0;
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double log10LikelihoodOfAFzero = 0.0;
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double log10PosteriorOfAFzero = 0.0;
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double log10PosteriorOfAFzero = 0.0;
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AlleleFrequencyCalculationResult(int maxAltAlleles, int numChr) {
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public AlleleFrequencyCalculationResult(int maxAltAlleles, int numChr) {
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log10AlleleFrequencyLikelihoods = new double[maxAltAlleles][numChr+1];
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log10AlleleFrequencyLikelihoods = new double[maxAltAlleles][numChr+1];
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log10AlleleFrequencyPosteriors = new double[maxAltAlleles][numChr+1];
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log10AlleleFrequencyPosteriors = new double[maxAltAlleles][numChr+1];
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}
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}
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public double getLog10LikelihoodOfAFzero() {
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return log10LikelihoodOfAFzero;
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}
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public double getLog10PosteriorOfAFzero() {
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return log10PosteriorOfAFzero;
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}
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}
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}
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@ -38,10 +38,10 @@ public abstract class FrequencyModeSelector implements Cloneable{
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protected FrequencyModeSelector(GenomeLocParser parser) {
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protected FrequencyModeSelector(GenomeLocParser parser) {
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this.parser = parser;
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this.parser = parser;
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}
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}
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protected void logCurrentSiteData(VariantContext vc, VariantContext subVC) {
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protected void logCurrentSiteData(VariantContext vc, boolean passesCriteria) {
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logCurrentSiteData(vc, subVC, false, false);
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logCurrentSiteData(vc, passesCriteria, false, false);
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}
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}
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protected abstract void logCurrentSiteData(VariantContext vc, VariantContext subVC, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC);
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protected abstract void logCurrentSiteData(VariantContext vc, boolean included, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC);
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protected abstract ArrayList<VariantContext> selectValidationSites(int numValidationSites);
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protected abstract ArrayList<VariantContext> selectValidationSites(int numValidationSites);
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}
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}
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@ -23,21 +23,52 @@
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*/
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*/
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package org.broadinstitute.sting.gatk.walkers.validation.validationsiteselector;
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package org.broadinstitute.sting.gatk.walkers.validation.validationsiteselector;
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import org.broadinstitute.sting.gatk.walkers.genotyper.AlleleFrequencyCalculationResult;
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import org.broadinstitute.sting.gatk.walkers.genotyper.ExactAFCalculationModel;
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import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants;
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import org.broadinstitute.sting.utils.exceptions.ReviewedStingException;
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import org.broadinstitute.sting.utils.exceptions.ReviewedStingException;
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import org.broadinstitute.sting.utils.variantcontext.Allele;
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import org.broadinstitute.sting.utils.variantcontext.VariantContext;
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import org.broadinstitute.sting.utils.variantcontext.VariantContext;
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import java.util.HashMap;
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import java.util.List;
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import java.util.Map;
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import java.util.TreeSet;
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import java.util.TreeSet;
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public class GLBasedSampleSelector extends SampleSelector {
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public class GLBasedSampleSelector extends SampleSelector {
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public GLBasedSampleSelector(TreeSet<String> sm) {
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Map<Integer,double[][]> numAllelePriorMatrix = new HashMap<Integer,double[][]>();
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double referenceLikelihood;
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public GLBasedSampleSelector(TreeSet<String> sm, double refLik) {
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super(sm);
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super(sm);
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referenceLikelihood = refLik;
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}
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}
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public VariantContext subsetSiteToSamples(VariantContext vc) {
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public boolean selectSiteInSamples(VariantContext vc) {
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/* todo - Look at sample array, and create a new vc with samples for which GL's indicate they should be included.
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if ( samples == null || samples.isEmpty() )
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For example, include all samples (and corresponding genotypes) whose GL's are such that argmax(GL) = HET or HOMVAR. */
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return true;
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throw new ReviewedStingException("GLBasedSampleSelector not implemented yet!");
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// want to include a site in the given samples if it is *likely* to be variant (via the EXACT model)
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//return true;
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// first subset to the samples
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VariantContext subContext = vc.subContextFromSamples(samples);
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// now check to see (using EXACT model) whether this should be variant
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// do we want to apply a prior? maybe user-spec?
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double[][] flatPrior = createFlatPrior(vc.getAlleles());
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AlleleFrequencyCalculationResult result = new AlleleFrequencyCalculationResult(vc.getAlternateAlleles().size(),2*samples.size());
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ExactAFCalculationModel.linearExactMultiAllelic(subContext.getGenotypes(),vc.getAlternateAlleles().size(),flatPrior,result,true);
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// do we want to let this qual go up or down?
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if ( result.getLog10PosteriorOfAFzero() < referenceLikelihood ) {
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return true;
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}
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return false;
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}
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private double[][] createFlatPrior(List<Allele> alleles) {
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if ( ! numAllelePriorMatrix.containsKey(alleles.size()) ) {
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numAllelePriorMatrix.put(alleles.size(), new double[alleles.size()][1+2*samples.size()]);
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}
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return numAllelePriorMatrix.get(alleles.size());
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}
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}
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}
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}
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@ -38,14 +38,18 @@ public class GTBasedSampleSelector extends SampleSelector{
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super(sm);
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super(sm);
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}
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}
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public VariantContext subsetSiteToSamples(VariantContext vc) {
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public boolean selectSiteInSamples(VariantContext vc) {
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// Super class already defined initialization which filled data structure "samples" with desired samples.
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// Super class already defined initialization which filled data structure "samples" with desired samples.
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// We only need to check if current vc if polymorphic in that set of samples
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// We only need to check if current vc if polymorphic in that set of samples
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if ( samples == null || samples.isEmpty() )
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if ( samples == null || samples.isEmpty() )
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return vc;
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return true;
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return vc.subContextFromSamples(samples, vc.getAlleles());
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VariantContext subContext = vc.subContextFromSamples(samples, vc.getAlleles());
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if ( subContext.isPolymorphicInSamples() ) {
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return true;
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}
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return false;
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}
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}
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}
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}
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@ -60,7 +60,7 @@ public class KeepAFSpectrumFrequencySelector extends FrequencyModeSelector {
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postSampleSelectionHistogram = new int[NUM_BINS];
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postSampleSelectionHistogram = new int[NUM_BINS];
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}
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}
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public void logCurrentSiteData(VariantContext vc, VariantContext subVC, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC) {
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public void logCurrentSiteData(VariantContext vc, boolean selectedInTargetSamples, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC) {
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// this method is called for every variant of a selected type, regardless of whether it will be selectable or not
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// this method is called for every variant of a selected type, regardless of whether it will be selectable or not
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// get AC,AF,AN attributes from vc
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// get AC,AF,AN attributes from vc
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@ -107,7 +107,7 @@ public class KeepAFSpectrumFrequencySelector extends FrequencyModeSelector {
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numTotalSites++;
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numTotalSites++;
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// now process VC subsetted to samples of interest
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// now process VC subsetted to samples of interest
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if (!subVC.isPolymorphicInSamples() && !IGNORE_POLYMORPHIC)
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if (! selectedInTargetSamples && !IGNORE_POLYMORPHIC)
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return;
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return;
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//System.out.format("Post:%4.4f %d\n",af0, binIndex);
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//System.out.format("Post:%4.4f %d\n",af0, binIndex);
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@ -33,8 +33,7 @@ public class NullSampleSelector extends SampleSelector{
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super(sm);
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super(sm);
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}
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}
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public VariantContext subsetSiteToSamples(VariantContext vc) {
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public boolean selectSiteInSamples(VariantContext vc) {
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return vc;
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return true;
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}
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}
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}
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}
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@ -34,7 +34,7 @@ public abstract class SampleSelector implements Cloneable {
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samples = new TreeSet<String>(sm);
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samples = new TreeSet<String>(sm);
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}
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}
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protected abstract VariantContext subsetSiteToSamples(VariantContext vc);
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protected abstract boolean selectSiteInSamples(VariantContext vc);
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}
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}
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@ -42,14 +42,14 @@ public class UniformSamplingFrequencySelector extends FrequencyModeSelector {
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}
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}
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public void logCurrentSiteData(VariantContext vc, VariantContext subVC, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC) {
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public void logCurrentSiteData(VariantContext vc, boolean selectedInTargetSamples, boolean IGNORE_GENOTYPES, boolean IGNORE_POLYMORPHIC) {
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HashMap<String, Object> attributes = new HashMap<String, Object>();
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HashMap<String, Object> attributes = new HashMap<String, Object>();
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if (vc.hasGenotypes() && !IGNORE_GENOTYPES) {
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if (vc.hasGenotypes() && !IGNORE_GENOTYPES) {
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// recompute AF,AC,AN based on genotypes:
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// recompute AF,AC,AN based on genotypes:
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VariantContextUtils.calculateChromosomeCounts(vc, attributes, false);
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VariantContextUtils.calculateChromosomeCounts(vc, attributes, false);
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if (!subVC.isPolymorphicInSamples() && !IGNORE_POLYMORPHIC)
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if (! selectedInTargetSamples && !IGNORE_POLYMORPHIC)
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return;
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return;
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} else {
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} else {
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if ( attributes.containsKey(VCFConstants.ALLELE_COUNT_KEY) ) {
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if ( attributes.containsKey(VCFConstants.ALLELE_COUNT_KEY) ) {
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@ -124,6 +124,10 @@ public class ValidationSiteSelectorWalker extends RodWalker<Integer, Integer> {
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@Argument(fullName="sampleMode", shortName="sampleMode", doc="Sample selection mode", required=false)
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@Argument(fullName="sampleMode", shortName="sampleMode", doc="Sample selection mode", required=false)
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private SAMPLE_SELECTION_MODE sampleMode = SAMPLE_SELECTION_MODE.NONE;
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private SAMPLE_SELECTION_MODE sampleMode = SAMPLE_SELECTION_MODE.NONE;
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@Argument(shortName="samplePNonref",fullName="samplePNonref", doc="GL-based selection mode only: the probability" +
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" that a site is non-reference in the samples for which to include the site",required=false)
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private double samplePNonref = 0.99;
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@Argument(fullName="numValidationSites", shortName="numSites", doc="Number of output validation sites", required=true)
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@Argument(fullName="numValidationSites", shortName="numSites", doc="Number of output validation sites", required=true)
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private int numValidationSites;
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private int numValidationSites;
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@ -231,13 +235,14 @@ public class ValidationSiteSelectorWalker extends RodWalker<Integer, Integer> {
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continue;
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continue;
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// do anything required by frequency selector before we select for samples
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// does this site pass the criteria for the samples we are interested in?
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VariantContext subVC;
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boolean passesSampleSelectionCriteria;
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if (samples.isEmpty())
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if (samples.isEmpty())
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subVC = vc;
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passesSampleSelectionCriteria = true;
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else
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else
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subVC = sampleSelector.subsetSiteToSamples(vc);
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passesSampleSelectionCriteria = sampleSelector.selectSiteInSamples(vc);
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frequencyModeSelector.logCurrentSiteData(vc, subVC, IGNORE_GENOTYPES, IGNORE_POLYMORPHIC);
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frequencyModeSelector.logCurrentSiteData(vc,passesSampleSelectionCriteria,IGNORE_GENOTYPES,IGNORE_POLYMORPHIC);
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}
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}
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return 1;
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return 1;
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}
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}
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@ -263,7 +268,7 @@ public class ValidationSiteSelectorWalker extends RodWalker<Integer, Integer> {
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SampleSelector sm;
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SampleSelector sm;
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switch ( sampleMode ) {
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switch ( sampleMode ) {
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case POLY_BASED_ON_GL:
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case POLY_BASED_ON_GL:
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sm = new GLBasedSampleSelector(samples);
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sm = new GLBasedSampleSelector(samples, Math.log10(1.0-samplePNonref));
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break;
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break;
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case POLY_BASED_ON_GT:
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case POLY_BASED_ON_GT:
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sm = new GTBasedSampleSelector(samples);
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sm = new GTBasedSampleSelector(samples);
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