Merge branch 'master' of ssh://gsa1/humgen/gsa-scr1/gsa-engineering/git/unstable

public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotator.java

@@ -68,8 +68,9 @@ import java.util.*;
  *   -T VariantAnnotator \
  *   -I input.bam \
  *   -o output.vcf \
- *   -A DepthOfCoverage
+ *   -A DepthOfCoverage \
  *   --variant input.vcf \
+ *   -L input.vcf \
  *   --dbsnp dbsnp.vcf
  * </pre>
  *
@@ -221,8 +222,33 @@ public class VariantAnnotator extends RodWalker<Integer, Integer> implements Ann
             if ( isUniqueHeaderLine(line, hInfo) )
                 hInfo.add(line);
         }
-        for ( String expression : expressionsToUse )
+        // for the expressions, pull the info header line from the header of the resource rod
-            hInfo.add(new VCFInfoHeaderLine(expression, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Value transferred from another external VCF resource"));
+        for ( VariantAnnotatorEngine.VAExpression expression : engine.getRequestedExpressions() ) {
+            // special case the ID field
+            if ( expression.fieldName.equals("ID") ) {
+                hInfo.add(new VCFInfoHeaderLine(expression.fullName, 1, VCFHeaderLineType.String, "ID field transferred from external VCF resource"));
+                continue;
+            }
+            VCFInfoHeaderLine targetHeaderLine = null;
+            for ( VCFHeaderLine line : VCFUtils.getHeaderFields(getToolkit(), Arrays.asList(expression.binding.getName())) ) {
+                if ( line instanceof VCFInfoHeaderLine ) {
+                    VCFInfoHeaderLine infoline = (VCFInfoHeaderLine)line;
+                    if ( infoline.getName().equals(expression.fieldName) ) {
+                        targetHeaderLine = infoline;
+                        break;
+                    }
+                }
+            }
+
+            if ( targetHeaderLine != null ) {
+                if ( targetHeaderLine.getCountType() == VCFHeaderLineCount.INTEGER )
+                    hInfo.add(new VCFInfoHeaderLine(expression.fullName, targetHeaderLine.getCount(), targetHeaderLine.getType(), targetHeaderLine.getDescription()));
+                else
+                    hInfo.add(new VCFInfoHeaderLine(expression.fullName, targetHeaderLine.getCountType(), targetHeaderLine.getType(), targetHeaderLine.getDescription()));
+            } else {
+                hInfo.add(new VCFInfoHeaderLine(expression.fullName, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Value transferred from another external VCF resource"));
+            }
+        }
 
         engine.invokeAnnotationInitializationMethods(hInfo);
 

public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java

@@ -50,20 +50,20 @@ public class VariantAnnotatorEngine {
     private AnnotatorCompatibleWalker walker;
     private GenomeAnalysisEngine toolkit;
 
-    private static class VAExpression {
+    protected static class VAExpression {
 
         public String fullName, fieldName;
         public RodBinding<VariantContext> binding;
 
-        public VAExpression(String fullEpression, List<RodBinding<VariantContext>> bindings) {
+        public VAExpression(String fullExpression, List<RodBinding<VariantContext>> bindings) {
-            int indexOfDot = fullEpression.lastIndexOf(".");
+            int indexOfDot = fullExpression.lastIndexOf(".");
             if ( indexOfDot == -1 )
-                throw new UserException.BadArgumentValue(fullEpression, "it should be in rodname.value format");
+                throw new UserException.BadArgumentValue(fullExpression, "it should be in rodname.value format");
 
-            fullName = fullEpression;
+            fullName = fullExpression;
-            fieldName = fullEpression.substring(indexOfDot+1);
+            fieldName = fullExpression.substring(indexOfDot+1);
 
-            String bindingName = fullEpression.substring(0, indexOfDot);
+            String bindingName = fullExpression.substring(0, indexOfDot);
             for ( RodBinding<VariantContext> rod : bindings ) {
                 if ( rod.getName().equals(bindingName) ) {
                     binding = rod;
@@ -98,6 +98,8 @@ public class VariantAnnotatorEngine {
             requestedExpressions.add(new VAExpression(expression, walker.getResourceRodBindings()));
     }
 
+    protected List<VAExpression> getRequestedExpressions() { return requestedExpressions; }
+
     private void initializeAnnotations(List<String> annotationGroupsToUse, List<String> annotationsToUse, List<String> annotationsToExclude) {
         AnnotationInterfaceManager.validateAnnotations(annotationGroupsToUse, annotationsToUse);
         requestedInfoAnnotations = AnnotationInterfaceManager.createInfoFieldAnnotations(annotationGroupsToUse, annotationsToUse);
@@ -212,8 +214,13 @@ public class VariantAnnotatorEngine {
                 continue;
 
             VariantContext vc = VCs.iterator().next();
-            if ( vc.hasAttribute(expression.fieldName) )
+            // special-case the ID field
+            if ( expression.fieldName.equals("ID") ) {
+                if ( vc.hasID() )
+                    infoAnnotations.put(expression.fullName, vc.getID());
+            } else if ( vc.hasAttribute(expression.fieldName) ) {
                 infoAnnotations.put(expression.fullName, vc.getAttribute(expression.fieldName));
+            }
         }
     }
 

public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CycleCovariate.java

@@ -6,9 +6,7 @@ import org.broadinstitute.sting.utils.NGSPlatform;
 import org.broadinstitute.sting.utils.exceptions.UserException;
 import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
 
-import java.util.Arrays;
 import java.util.EnumSet;
-import java.util.List;
 
 /*
  * Copyright (c) 2009 The Broad Institute

public/java/src/org/broadinstitute/sting/gatk/walkers/validation/ValidationAmplicons.java

@@ -7,10 +7,7 @@ import org.broadinstitute.sting.alignment.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.commandline.*;
-import org.broadinstitute.sting.commandline.Input;
-import org.broadinstitute.sting.commandline.Output;
-import org.broadinstitute.sting.commandline.RodBinding;
 import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
 import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
 import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
@@ -126,6 +123,11 @@ public class ValidationAmplicons extends RodWalker<Integer,Integer> {
     @Argument(doc="Do not use BWA, lower-case repeats only",fullName="doNotUseBWA",required=false)
     boolean doNotUseBWA = false;
 
+    @Hidden
+    @Argument(doc="Use Sequenom output format instead of regular FASTA",fullName="sqnm",required=false)
+     boolean sequenomOutput = false;
+
+
     GenomeLoc prevInterval;
     GenomeLoc allelePos;
     String probeName;
@@ -485,6 +487,13 @@ public class ValidationAmplicons extends RodWalker<Integer,Integer> {
         }
 
         String seqIdentity = sequence.toString().replace('n', 'N').replace('i', 'I').replace('d', 'D');
-        out.printf(">%s %s %s%n%s%n", allelePos != null ? allelePos.toString() : "multiple", valid, probeName, seqIdentity);
+
+        if (!sequenomOutput)
+            out.printf(">%s %s %s%n%s%n", allelePos != null ? allelePos.toString() : "multiple", valid, probeName, seqIdentity);
+        else {
+            seqIdentity = seqIdentity.replace("*",""); // identifier < 20 letters long, no * in ref allele, one line per record
+            probeName = probeName.replace("amplicon_","a");
+            out.printf("%s_%s %s%n", allelePos != null ? allelePos.toString() : "multiple", probeName, seqIdentity);
+        }
     }
 }

public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/GaussianMixtureModel.java

@@ -52,6 +52,7 @@ public class GaussianMixtureModel {
     private final double[] empiricalMu;
     private final Matrix empiricalSigma;
     public boolean isModelReadyForEvaluation;
+    public boolean failedToConverge = false;
 
     public GaussianMixtureModel( final int numGaussians, final int numAnnotations,
                                  final double shrinkage, final double dirichletParameter, final double priorCounts ) {

public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java

@@ -309,8 +309,23 @@ public class VariantRecalibrator extends RodWalker<ExpandingArrayList<VariantDat
         engine.evaluateData( dataManager.getData(), goodModel, false );
 
         // Generate the negative model using the worst performing data and evaluate each variant contrastively
-        final GaussianMixtureModel badModel = engine.generateModel( dataManager.selectWorstVariants( VRAC.PERCENT_BAD_VARIANTS, VRAC.MIN_NUM_BAD_VARIANTS ) );
+        final ExpandingArrayList<VariantDatum> negativeTrainingData = dataManager.selectWorstVariants( VRAC.PERCENT_BAD_VARIANTS, VRAC.MIN_NUM_BAD_VARIANTS );
+        GaussianMixtureModel badModel = engine.generateModel( negativeTrainingData );
         engine.evaluateData( dataManager.getData(), badModel, true );
+
+        // Detect if the negative model failed to converge because of too few points and/or too many Gaussians and try again
+        while( badModel.failedToConverge && VRAC.MAX_GAUSSIANS > 4 ) {
+            logger.info("Negative model failed to converge. Retrying...");
+            VRAC.MAX_GAUSSIANS--;
+            badModel = engine.generateModel( negativeTrainingData );
+            engine.evaluateData( dataManager.getData(), goodModel, false );
+            engine.evaluateData( dataManager.getData(), badModel, true );
+        }
+
+        if( badModel.failedToConverge || goodModel.failedToConverge ) {
+            throw new UserException("NaN LOD value assigned. Clustering with this few variants and these annotations is unsafe. Please consider raising the number of variants used to train the negative model (via --percentBadVariants 0.05, for example) or lowering the maximum number of Gaussians to use in the model (via --maxGaussians 4, for example)");
+        }
+
         engine.calculateWorstPerformingAnnotation( dataManager.getData(), goodModel, badModel );
 
         // Find the VQSLOD cutoff values which correspond to the various tranches of calls requested by the user

public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibratorEngine.java

@@ -67,14 +67,20 @@ public class VariantRecalibratorEngine {
 
     public void evaluateData( final List<VariantDatum> data, final GaussianMixtureModel model, final boolean evaluateContrastively ) {
         if( !model.isModelReadyForEvaluation ) {
-            model.precomputeDenominatorForEvaluation();
+            try {
+                model.precomputeDenominatorForEvaluation();
+            } catch( Exception e ) {
+                model.failedToConverge = true;
+                return;
+            }
         }
         
         logger.info("Evaluating full set of " + data.size() + " variants...");
         for( final VariantDatum datum : data ) {
             final double thisLod = evaluateDatum( datum, model );
             if( Double.isNaN(thisLod) ) {
-                throw new UserException("NaN LOD value assigned. Clustering with this few variants and these annotations is unsafe. Please consider raising the number of variants used to train the negative model (via --percentBadVariants 0.05, for example) or lowering the maximum number of Gaussians to use in the model (via --maxGaussians 4, for example)");
+                model.failedToConverge = true;
+                return;
             }
 
             datum.lod = ( evaluateContrastively ?

public/java/src/org/broadinstitute/sting/utils/pileup/PileupElement.java

@@ -95,11 +95,12 @@ public class PileupElement implements Comparable<PileupElement> {
     // --------------------------------------------------------------------------
 
     public boolean isReducedRead() {
-        return ((GATKSAMRecord)read).isReducedRead();
+        return read.isReducedRead();
     }
 
     public int getRepresentativeCount() {
-        return isReducedRead() ? ((GATKSAMRecord)read).getReducedCount(offset) : 1;
+        // TODO -- if we ever decide to reduce the representation of deletions then this will need to be fixed
+        return (!isDeletion() && isReducedRead()) ? read.getReducedCount(offset) : 1;
     }
 
 }

public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java

@@ -243,7 +243,7 @@ public class ReadUtils {
     public static GATKSAMRecord hardClipAdaptorSequence(final GATKSAMRecord read, int adaptorLength) {
 
         Pair<Integer, Integer> adaptorBoundaries = getAdaptorBoundaries(read, adaptorLength);
-        GATKSAMRecord result = (GATKSAMRecord)read;
+        GATKSAMRecord result = read;
 
         if ( adaptorBoundaries != null ) {
             if ( read.getReadNegativeStrandFlag() && adaptorBoundaries.second >= read.getAlignmentStart() && adaptorBoundaries.first < read.getAlignmentEnd() )

public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java

@@ -128,7 +128,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
     public void testUsingExpressionWithID() {
         WalkerTestSpec spec = new WalkerTestSpec(
                 baseTestString() + " --resource:foo " + validationDataLocation + "targetAnnotations.vcf -G Standard --variant:VCF3 " + validationDataLocation + "vcfexample3empty.vcf -E foo.ID -L " + validationDataLocation + "vcfexample3empty.vcf", 1,
-                Arrays.asList("4a6f0675242f685e9072c1da5ad9e715"));
+                Arrays.asList("1b4921085b26cbfe07d53b7c947de1e5"));
         executeTest("using expression with ID", spec);
     }