respond to review comments

This commit is contained in:
Samuel Friedman 2017-05-05 16:29:01 -04:00
parent 68bdb93c8c
commit ed440f1684
3 changed files with 80 additions and 86 deletions

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@ -278,7 +278,7 @@ public class VariantRecalibrator extends RodWalker<ExpandingArrayList<VariantDat
* to help describe the normalization. The model fit report can be read in with our R gsalib package. Individual * to help describe the normalization. The model fit report can be read in with our R gsalib package. Individual
* model Gaussians can be subset by the value in the "Gaussian" column if desired. * model Gaussians can be subset by the value in the "Gaussian" column if desired.
*/ */
@Argument(fullName="output_model", shortName = "outputModel", doc="If specified, the variant recalibrator will output the VQSR model fit to the file specified by -modelFile or to stdout", required=false) @Argument(fullName="output_model", shortName = "outputModel", doc="If specified, the variant recalibrator will output the VQSR model to this file path.", required=false)
private String outputModel = null; private String outputModel = null;
@Argument(fullName="input_model", shortName = "inputModel", doc="If specified, the variant recalibrator will read the VQSR model from this file path.", required=false) @Argument(fullName="input_model", shortName = "inputModel", doc="If specified, the variant recalibrator will read the VQSR model from this file path.", required=false)
private String inputModel = ""; private String inputModel = "";

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@ -51,21 +51,21 @@
package org.broadinstitute.gatk.tools.walkers.variantrecalibration; package org.broadinstitute.gatk.tools.walkers.variantrecalibration;
import static org.testng.Assert.*;
import Jama.Matrix;
import org.apache.commons.lang.StringUtils;
import org.apache.log4j.Logger; import org.apache.log4j.Logger;
import org.broadinstitute.gatk.utils.BaseTest;
import org.broadinstitute.gatk.utils.report.GATKReport; import org.broadinstitute.gatk.utils.report.GATKReport;
import org.broadinstitute.gatk.utils.report.GATKReportTable; import org.broadinstitute.gatk.utils.report.GATKReportTable;
import org.testng.Assert; import org.testng.Assert;
import org.testng.annotations.Test; import org.testng.annotations.Test;
import java.io.File;
import java.io.FileNotFoundException;
import java.io.PrintStream;
import java.util.ArrayList; import java.util.ArrayList;
import java.util.List; import java.util.List;
import java.util.Random; import java.util.Random;
public class VariantRecalibratorModelOutputUnitTest { public class VariantRecalibratorModelOutputUnitTest extends BaseTest {
protected final static Logger logger = Logger.getLogger(VariantRecalibratorModelOutputUnitTest.class); protected final static Logger logger = Logger.getLogger(VariantRecalibratorModelOutputUnitTest.class);
private final boolean printTables = true; private final boolean printTables = true;
private final int numAnnotations = 6; private final int numAnnotations = 6;
@ -73,98 +73,78 @@ public class VariantRecalibratorModelOutputUnitTest {
private final double dirichlet = 0.001; private final double dirichlet = 0.001;
private final double priorCounts = 20.0; private final double priorCounts = 20.0;
private final double epsilon = 1e-6; private final double epsilon = 1e-6;
private final String modelReportName = "vqsr_model.report";
@Test @Test
public void testVQSRModelOutput() { public void testVQSRModelOutput() {
Random rand = new Random(12878); GaussianMixtureModel goodModel = getGoodGMM();
MultivariateGaussian goodGaussian1 = new MultivariateGaussian(numAnnotations); GaussianMixtureModel badModel = getBadGMM();
goodGaussian1.initializeRandomMu(rand);
goodGaussian1.initializeRandomSigma(rand);
MultivariateGaussian goodGaussian2 = new MultivariateGaussian(numAnnotations);
goodGaussian2.initializeRandomMu(rand);
goodGaussian2.initializeRandomSigma(rand);
MultivariateGaussian badGaussian1 = new MultivariateGaussian(numAnnotations);
badGaussian1.initializeRandomMu(rand);
badGaussian1.initializeRandomSigma(rand);
List<MultivariateGaussian> goodGaussianList = new ArrayList<>();
goodGaussianList.add(goodGaussian1);
goodGaussianList.add(goodGaussian2);
List<MultivariateGaussian> badGaussianList = new ArrayList<>();
badGaussianList.add(badGaussian1);
GaussianMixtureModel goodModel = new GaussianMixtureModel(goodGaussianList, shrinkage, dirichlet, priorCounts);
GaussianMixtureModel badModel = new GaussianMixtureModel(badGaussianList, shrinkage, dirichlet, priorCounts);
if (printTables) { if (printTables) {
System.out.println("Good model mean matrix:"); System.out.println("Good model mean matrix:");
System.out.println(vectorToString(goodGaussian1.mu)); System.out.println(vectorToString(goodModel.getModelGaussians().get(0).mu));
System.out.println(vectorToString(goodGaussian2.mu)); System.out.println(vectorToString(goodModel.getModelGaussians().get(1).mu));
System.out.println("\n\n"); System.out.println("\n\n");
System.out.println("Good model covariance matrices:"); System.out.println("Good model covariance matrices:");
goodGaussian1.sigma.print(10, 3); goodModel.getModelGaussians().get(0).sigma.print(10, 3);
goodGaussian2.sigma.print(10, 3); goodModel.getModelGaussians().get(1).sigma.print(10, 3);
System.out.println("\n\n"); System.out.println("\n\n");
System.out.println("Bad model mean matrix:\n"); System.out.println("Bad model mean matrix:\n");
System.out.println(vectorToString(badGaussian1.mu)); System.out.println(vectorToString(badModel.getModelGaussians().get(0).mu));
System.out.println("\n\n"); System.out.println("\n\n");
System.out.println("Bad model covariance matrix:"); System.out.println("Bad model covariance matrix:");
badGaussian1.sigma.print(10, 3); badModel.getModelGaussians().get(0).sigma.print(10, 3);
} }
VariantRecalibrator vqsr = new VariantRecalibrator(); VariantRecalibrator vqsr = new VariantRecalibrator();
List<String> annotationList = new ArrayList<>(); List<String> annotationList = getAnnotationList();
annotationList.add("QD");
annotationList.add("MQ");
annotationList.add("FS");
annotationList.add("SOR");
annotationList.add("ReadPosRankSum");
annotationList.add("MQRankSum");
GATKReport report = vqsr.writeModelReport(goodModel, badModel, annotationList); GATKReport report = vqsr.writeModelReport(goodModel, badModel, annotationList);
if(printTables) if(printTables) {
report.print(System.out); try {
PrintStream modelReporter = new PrintStream(this.privateTestDir+this.modelReportName);
report.print(modelReporter);
} catch (FileNotFoundException e) {
e.printStackTrace();
}
}
//Check values for Gaussian means //Check values for Gaussian means
GATKReportTable goodMus = report.getTable("PositiveModelMeans"); GATKReportTable goodMus = report.getTable("PositiveModelMeans");
for(int i = 0; i < annotationList.size(); i++) { for(int i = 0; i < annotationList.size(); i++) {
Assert.assertEquals(goodGaussian1.mu[i], (Double)goodMus.get(0,annotationList.get(i)), epsilon); Assert.assertEquals(goodModel.getModelGaussians().get(0).mu[i], (Double)goodMus.get(0,annotationList.get(i)), epsilon);
} }
for(int i = 0; i < annotationList.size(); i++) { for(int i = 0; i < annotationList.size(); i++) {
Assert.assertEquals(goodGaussian2.mu[i], (Double)goodMus.get(1,annotationList.get(i)), epsilon); Assert.assertEquals(goodModel.getModelGaussians().get(1).mu[i], (Double)goodMus.get(1,annotationList.get(i)), epsilon);
} }
GATKReportTable badMus = report.getTable("NegativeModelMeans"); GATKReportTable badMus = report.getTable("NegativeModelMeans");
for(int i = 0; i < annotationList.size(); i++) { for(int i = 0; i < annotationList.size(); i++) {
Assert.assertEquals(badGaussian1.mu[i], (Double)badMus.get(0,annotationList.get(i)), epsilon); Assert.assertEquals(badModel.getModelGaussians().get(0).mu[i], (Double)badMus.get(0,annotationList.get(i)), epsilon);
} }
//Check values for Gaussian covariances //Check values for Gaussian covariances
GATKReportTable goodSigma = report.getTable("PositiveModelCovariances"); GATKReportTable goodSigma = report.getTable("PositiveModelCovariances");
for(int i = 0; i < annotationList.size(); i++) { for(int i = 0; i < annotationList.size(); i++) {
for(int j = 0; j < annotationList.size(); j++) { for(int j = 0; j < annotationList.size(); j++) {
Assert.assertEquals(goodGaussian1.sigma.get(i,j), (Double)goodSigma.get(i,annotationList.get(j)), epsilon); Assert.assertEquals(goodModel.getModelGaussians().get(0).sigma.get(i,j), (Double)goodSigma.get(i,annotationList.get(j)), epsilon);
} }
} }
//add annotationList.size() to row indexes for second Gaussian because the matrices are concatenated by row in the report //add annotationList.size() to row indexes for second Gaussian because the matrices are concatenated by row in the report
for(int i = 0; i < annotationList.size(); i++) { for(int i = 0; i < annotationList.size(); i++) {
for(int j = 0; j < annotationList.size(); j++) { for(int j = 0; j < annotationList.size(); j++) {
Assert.assertEquals(goodGaussian2.sigma.get(i,j), (Double)goodSigma.get(annotationList.size()+i,annotationList.get(j)), epsilon); Assert.assertEquals(goodModel.getModelGaussians().get(1).sigma.get(i,j), (Double)goodSigma.get(annotationList.size()+i,annotationList.get(j)), epsilon);
} }
} }
GATKReportTable badSigma = report.getTable("NegativeModelCovariances"); GATKReportTable badSigma = report.getTable("NegativeModelCovariances");
for(int i = 0; i < annotationList.size(); i++) { for(int i = 0; i < annotationList.size(); i++) {
for(int j = 0; j < annotationList.size(); j++) { for(int j = 0; j < annotationList.size(); j++) {
Assert.assertEquals(badGaussian1.sigma.get(i,j), (Double)badSigma.get(i,annotationList.get(j)), epsilon); Assert.assertEquals(badModel.getModelGaussians().get(0).sigma.get(i,j), (Double)badSigma.get(i,annotationList.get(j)), epsilon);
} }
} }
} }
@ -172,39 +152,8 @@ public class VariantRecalibratorModelOutputUnitTest {
@Test @Test
public void testVQSRModelInput(){ public void testVQSRModelInput(){
Random rand = new Random(12878); final File inputFile = new File(this.privateTestDir + this.modelReportName);
MultivariateGaussian goodGaussian1 = new MultivariateGaussian(numAnnotations); final GATKReport report = new GATKReport(inputFile);
goodGaussian1.initializeRandomMu(rand);
goodGaussian1.initializeRandomSigma(rand);
MultivariateGaussian goodGaussian2 = new MultivariateGaussian(numAnnotations);
goodGaussian2.initializeRandomMu(rand);
goodGaussian2.initializeRandomSigma(rand);
MultivariateGaussian badGaussian1 = new MultivariateGaussian(numAnnotations);
badGaussian1.initializeRandomMu(rand);
badGaussian1.initializeRandomSigma(rand);
List<MultivariateGaussian> goodGaussianList = new ArrayList<>();
goodGaussianList.add(goodGaussian1);
goodGaussianList.add(goodGaussian2);
List<MultivariateGaussian> badGaussianList = new ArrayList<>();
badGaussianList.add(badGaussian1);
GaussianMixtureModel goodModel = new GaussianMixtureModel(goodGaussianList, shrinkage, dirichlet, priorCounts);
GaussianMixtureModel badModel = new GaussianMixtureModel(badGaussianList, shrinkage, dirichlet, priorCounts);
VariantRecalibrator vqsr = new VariantRecalibrator();
List<String> annotationList = new ArrayList<>();
annotationList.add("QD");
annotationList.add("MQ");
annotationList.add("FS");
annotationList.add("SOR");
annotationList.add("ReadPosRankSum");
annotationList.add("MQRankSum");
GATKReport report = vqsr.writeModelReport(goodModel, badModel, annotationList);
// Now test model report reading // Now test model report reading
// Read all the tables // Read all the tables
@ -216,11 +165,14 @@ public class VariantRecalibratorModelOutputUnitTest {
final GATKReportTable goodSigma = report.getTable("PositiveModelCovariances"); final GATKReportTable goodSigma = report.getTable("PositiveModelCovariances");
final GATKReportTable pPMixTable = report.getTable("GoodGaussianPMix"); final GATKReportTable pPMixTable = report.getTable("GoodGaussianPMix");
List<String> annotationList = getAnnotationList();
VariantRecalibrator vqsr = new VariantRecalibrator();
GaussianMixtureModel goodModelFromFile = vqsr.GMMFromTables(goodMus, goodSigma, pPMixTable, annotationList.size()); GaussianMixtureModel goodModelFromFile = vqsr.GMMFromTables(goodMus, goodSigma, pPMixTable, annotationList.size());
GaussianMixtureModel badModelFromFile = vqsr.GMMFromTables(badMus, badSigma, nPMixTable, annotationList.size()); GaussianMixtureModel badModelFromFile = vqsr.GMMFromTables(badMus, badSigma, nPMixTable, annotationList.size());
testGMMsForEquality(goodModel, goodModelFromFile, epsilon); testGMMsForEquality(getGoodGMM(), goodModelFromFile, epsilon);
testGMMsForEquality(badModel, badModelFromFile, epsilon); testGMMsForEquality(getBadGMM(), badModelFromFile, epsilon);
} }
@Test @Test
@ -269,6 +221,8 @@ public class VariantRecalibratorModelOutputUnitTest {
final MultivariateGaussian g = gmm1.getModelGaussians().get(k); final MultivariateGaussian g = gmm1.getModelGaussians().get(k);
final MultivariateGaussian gFile = gmm2.getModelGaussians().get(k); final MultivariateGaussian gFile = gmm2.getModelGaussians().get(k);
Assert.assertEquals(g.pMixtureLog10, gFile.pMixtureLog10);
for(int i = 0; i < g.mu.length; i++){ for(int i = 0; i < g.mu.length; i++){
Assert.assertEquals(g.mu[i], gFile.mu[i], epsilon); Assert.assertEquals(g.mu[i], gFile.mu[i], epsilon);
} }
@ -281,4 +235,45 @@ public class VariantRecalibratorModelOutputUnitTest {
} }
} }
private List<String> getAnnotationList(){
List<String> annotationList = new ArrayList<>();
annotationList.add("QD");
annotationList.add("MQ");
annotationList.add("FS");
annotationList.add("SOR");
annotationList.add("ReadPosRankSum");
annotationList.add("MQRankSum");
return annotationList;
}
private GaussianMixtureModel getGoodGMM(){
Random rand = new Random(12878);
MultivariateGaussian goodGaussian1 = new MultivariateGaussian(numAnnotations);
goodGaussian1.initializeRandomMu(rand);
goodGaussian1.initializeRandomSigma(rand);
MultivariateGaussian goodGaussian2 = new MultivariateGaussian(numAnnotations);
goodGaussian2.initializeRandomMu(rand);
goodGaussian2.initializeRandomSigma(rand);
List<MultivariateGaussian> goodGaussianList = new ArrayList<>();
goodGaussianList.add(goodGaussian1);
goodGaussianList.add(goodGaussian2);
return new GaussianMixtureModel(goodGaussianList, shrinkage, dirichlet, priorCounts);
}
private GaussianMixtureModel getBadGMM(){
Random rand = new Random(12878);
MultivariateGaussian badGaussian1 = new MultivariateGaussian(numAnnotations);
badGaussian1.initializeRandomMu(rand);
badGaussian1.initializeRandomSigma(rand);
List<MultivariateGaussian> badGaussianList = new ArrayList<>();
badGaussianList.add(badGaussian1);
return new GaussianMixtureModel(badGaussianList, shrinkage, dirichlet, priorCounts);
}
} }

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@ -152,7 +152,6 @@ public class GATKReportTable {
final List<String> lineSplits = Arrays.asList(TextFormattingUtils.splitFixedWidth(dataLine, columnStarts)); final List<String> lineSplits = Arrays.asList(TextFormattingUtils.splitFixedWidth(dataLine, columnStarts));
underlyingData.add(new Object[nColumns]); underlyingData.add(new Object[nColumns]);
for ( int columnIndex = 0; columnIndex < nColumns; columnIndex++ ) { for ( int columnIndex = 0; columnIndex < nColumns; columnIndex++ ) {
final GATKReportDataType type = columnInfo.get(columnIndex).getDataType(); final GATKReportDataType type = columnInfo.get(columnIndex).getDataType();
final String columnName = columnNames[columnIndex]; final String columnName = columnNames[columnIndex];
set(i, columnName, type.Parse(lineSplits.get(columnIndex))); set(i, columnName, type.Parse(lineSplits.get(columnIndex)));