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Example 81 with Mean

use of org.apache.commons.math3.stat.descriptive.moment.Mean in project gatk-protected by broadinstitute.

the class CopyRatioModellerUnitTest method testRunMCMCOnCopyRatioSegmentedGenome.

/**
     * Tests Bayesian inference of the copy-ratio model via MCMC.
     * <p>
     *     Recovery of input values for the variance and outlier-probability global parameters is checked.
     *     In particular, the true input value of the variance must fall within
     *     {@link CopyRatioModellerUnitTest#MULTIPLES_OF_SD_THRESHOLD}
     *     standard deviations of the posterior mean and the standard deviation of the posterior must agree
     *     with the analytic value to within a relative error of
     *     {@link CopyRatioModellerUnitTest#RELATIVE_ERROR_THRESHOLD} for 250 samples
     *     (after 250 burn-in samples have been discarded).  Similar criteria are applied
     *     to the recovery of the true input value for the outlier probability.
     * </p>
     * <p>
     *     Furthermore, the number of truth values for the segment-level means falling outside confidence intervals of
     *     1-sigma, 2-sigma, and 3-sigma given by the posteriors in each segment should be roughly consistent with
     *     a normal distribution (i.e., ~32, ~5, and ~0, respectively; we allow for errors of
     *     {@link CopyRatioModellerUnitTest#DELTA_NUMBER_OF_MEANS_ALLOWED_OUTSIDE_1_SIGMA},
     *     {@link CopyRatioModellerUnitTest#DELTA_NUMBER_OF_MEANS_ALLOWED_OUTSIDE_2_SIGMA}, and
     *     {@link CopyRatioModellerUnitTest#DELTA_NUMBER_OF_MEANS_ALLOWED_OUTSIDE_3_SIGMA}, respectively).
     *     The mean of the standard deviations of the posteriors for the segment-level means should also be
     *     recovered to within a relative error of {@link CopyRatioModellerUnitTest#RELATIVE_ERROR_THRESHOLD}.
     * </p>
     * <p>
     *     Finally, the recovered values for the latent outlier-indicator parameters should agree with those used to
     *     generate the data.  For each indicator, the recovered value (i.e., outlier or non-outlier) is taken to be
     *     that given by the majority of posterior samples.  We require that at least
     *     {@link CopyRatioModellerUnitTest#FRACTION_OF_OUTLIER_INDICATORS_CORRECT_THRESHOLD}
     *     of the 10000 indicators are recovered correctly.
     * </p>
     * <p>
     *     With these specifications, this unit test is not overly brittle (i.e., it should pass for a large majority
     *     of randomly generated data sets), but it is still brittle enough to check for correctness of the sampling
     *     (for example, specifying a sufficiently incorrect likelihood will cause the test to fail).
     * </p>
     */
@Test
public void testRunMCMCOnCopyRatioSegmentedGenome() throws IOException {
    final JavaSparkContext ctx = SparkContextFactory.getTestSparkContext();
    LoggingUtils.setLoggingLevel(Log.LogLevel.INFO);
    //load data (coverages and number of targets in each segment)
    final ReadCountCollection coverage = ReadCountCollectionUtils.parse(COVERAGES_FILE);
    //Genome with no SNPs
    final Genome genome = new Genome(coverage, Collections.emptyList());
    final SegmentedGenome segmentedGenome = new SegmentedGenome(SEGMENT_FILE, genome);
    //run MCMC
    final CopyRatioModeller modeller = new CopyRatioModeller(segmentedGenome);
    modeller.fitMCMC(NUM_SAMPLES, NUM_BURN_IN);
    //check statistics of global-parameter posterior samples (i.e., posterior mode and standard deviation)
    final Map<CopyRatioParameter, PosteriorSummary> globalParameterPosteriorSummaries = modeller.getGlobalParameterPosteriorSummaries(CREDIBLE_INTERVAL_ALPHA, ctx);
    final PosteriorSummary variancePosteriorSummary = globalParameterPosteriorSummaries.get(CopyRatioParameter.VARIANCE);
    final double variancePosteriorCenter = variancePosteriorSummary.getCenter();
    final double variancePosteriorStandardDeviation = (variancePosteriorSummary.getUpper() - variancePosteriorSummary.getLower()) / 2;
    Assert.assertEquals(Math.abs(variancePosteriorCenter - VARIANCE_TRUTH), 0., MULTIPLES_OF_SD_THRESHOLD * VARIANCE_POSTERIOR_STANDARD_DEVIATION_TRUTH);
    Assert.assertEquals(relativeError(variancePosteriorStandardDeviation, VARIANCE_POSTERIOR_STANDARD_DEVIATION_TRUTH), 0., RELATIVE_ERROR_THRESHOLD);
    final PosteriorSummary outlierProbabilityPosteriorSummary = globalParameterPosteriorSummaries.get(CopyRatioParameter.OUTLIER_PROBABILITY);
    final double outlierProbabilityPosteriorCenter = outlierProbabilityPosteriorSummary.getCenter();
    final double outlierProbabilityPosteriorStandardDeviation = (outlierProbabilityPosteriorSummary.getUpper() - outlierProbabilityPosteriorSummary.getLower()) / 2;
    Assert.assertEquals(Math.abs(outlierProbabilityPosteriorCenter - OUTLIER_PROBABILITY_TRUTH), 0., MULTIPLES_OF_SD_THRESHOLD * OUTLIER_PROBABILITY_POSTERIOR_STANDARD_DEVIATION_TRUTH);
    Assert.assertEquals(relativeError(outlierProbabilityPosteriorStandardDeviation, OUTLIER_PROBABILITY_POSTERIOR_STANDARD_DEVIATION_TRUTH), 0., RELATIVE_ERROR_THRESHOLD);
    //check statistics of segment-mean posterior samples (i.e., posterior means and standard deviations)
    final List<Double> meansTruth = loadList(MEANS_TRUTH_FILE, Double::parseDouble);
    int numMeansOutsideOneSigma = 0;
    int numMeansOutsideTwoSigma = 0;
    int numMeansOutsideThreeSigma = 0;
    final int numSegments = meansTruth.size();
    //segment-mean posteriors are expected to be Gaussian, so PosteriorSummary for
    // {@link CopyRatioModellerUnitTest#CREDIBLE_INTERVAL_ALPHA}=0.32 is
    //(posterior mean, posterior mean - posterior standard devation, posterior mean + posterior standard deviation)
    final List<PosteriorSummary> meanPosteriorSummaries = modeller.getSegmentMeansPosteriorSummaries(CREDIBLE_INTERVAL_ALPHA, ctx);
    final double[] meanPosteriorStandardDeviations = new double[numSegments];
    for (int segment = 0; segment < numSegments; segment++) {
        final double meanPosteriorCenter = meanPosteriorSummaries.get(segment).getCenter();
        final double meanPosteriorStandardDeviation = (meanPosteriorSummaries.get(segment).getUpper() - meanPosteriorSummaries.get(segment).getLower()) / 2.;
        meanPosteriorStandardDeviations[segment] = meanPosteriorStandardDeviation;
        final double absoluteDifferenceFromTruth = Math.abs(meanPosteriorCenter - meansTruth.get(segment));
        if (absoluteDifferenceFromTruth > meanPosteriorStandardDeviation) {
            numMeansOutsideOneSigma++;
        }
        if (absoluteDifferenceFromTruth > 2 * meanPosteriorStandardDeviation) {
            numMeansOutsideTwoSigma++;
        }
        if (absoluteDifferenceFromTruth > 3 * meanPosteriorStandardDeviation) {
            numMeansOutsideThreeSigma++;
        }
    }
    final double meanPosteriorStandardDeviationsMean = new Mean().evaluate(meanPosteriorStandardDeviations);
    Assert.assertEquals(numMeansOutsideOneSigma, 100 - 68, DELTA_NUMBER_OF_MEANS_ALLOWED_OUTSIDE_1_SIGMA);
    Assert.assertEquals(numMeansOutsideTwoSigma, 100 - 95, DELTA_NUMBER_OF_MEANS_ALLOWED_OUTSIDE_2_SIGMA);
    Assert.assertTrue(numMeansOutsideThreeSigma <= DELTA_NUMBER_OF_MEANS_ALLOWED_OUTSIDE_3_SIGMA);
    Assert.assertEquals(relativeError(meanPosteriorStandardDeviationsMean, MEAN_POSTERIOR_STANDARD_DEVIATION_MEAN_TRUTH), 0., RELATIVE_ERROR_THRESHOLD);
    //check accuracy of latent outlier-indicator posterior samples
    final List<CopyRatioState.OutlierIndicators> outlierIndicatorSamples = modeller.getOutlierIndicatorsSamples();
    int numIndicatorsCorrect = 0;
    final int numIndicatorSamples = outlierIndicatorSamples.size();
    final List<Integer> outlierIndicatorsTruthAsInt = loadList(OUTLIER_INDICATORS_TRUTH_FILE, Integer::parseInt);
    final List<Boolean> outlierIndicatorsTruth = outlierIndicatorsTruthAsInt.stream().map(i -> i == 1).collect(Collectors.toList());
    for (int target = 0; target < coverage.targets().size(); target++) {
        int numSamplesOutliers = 0;
        for (final CopyRatioState.OutlierIndicators sample : outlierIndicatorSamples) {
            if (sample.get(target)) {
                numSamplesOutliers++;
            }
        }
        //take predicted state of indicator to be given by the majority of samples
        if ((numSamplesOutliers >= numIndicatorSamples / 2.) == outlierIndicatorsTruth.get(target)) {
            numIndicatorsCorrect++;
        }
    }
    final double fractionOfOutlierIndicatorsCorrect = (double) numIndicatorsCorrect / coverage.targets().size();
    Assert.assertTrue(fractionOfOutlierIndicatorsCorrect >= FRACTION_OF_OUTLIER_INDICATORS_CORRECT_THRESHOLD);
}
Also used : BaseTest(org.broadinstitute.hellbender.utils.test.BaseTest) JavaSparkContext(org.apache.spark.api.java.JavaSparkContext) Genome(org.broadinstitute.hellbender.tools.exome.Genome) FileUtils(org.apache.commons.io.FileUtils) Test(org.testng.annotations.Test) IOException(java.io.IOException) Function(java.util.function.Function) Collectors(java.util.stream.Collectors) File(java.io.File) Mean(org.apache.commons.math3.stat.descriptive.moment.Mean) List(java.util.List) Log(htsjdk.samtools.util.Log) ReadCountCollection(org.broadinstitute.hellbender.tools.exome.ReadCountCollection) UserException(org.broadinstitute.hellbender.exceptions.UserException) Assert(org.testng.Assert) PosteriorSummary(org.broadinstitute.hellbender.utils.mcmc.PosteriorSummary) ReadCountCollectionUtils(org.broadinstitute.hellbender.tools.exome.ReadCountCollectionUtils) Map(java.util.Map) SparkContextFactory(org.broadinstitute.hellbender.engine.spark.SparkContextFactory) SegmentedGenome(org.broadinstitute.hellbender.tools.exome.SegmentedGenome) LoggingUtils(org.broadinstitute.hellbender.utils.LoggingUtils) Collections(java.util.Collections) Mean(org.apache.commons.math3.stat.descriptive.moment.Mean) ReadCountCollection(org.broadinstitute.hellbender.tools.exome.ReadCountCollection) PosteriorSummary(org.broadinstitute.hellbender.utils.mcmc.PosteriorSummary) SegmentedGenome(org.broadinstitute.hellbender.tools.exome.SegmentedGenome) JavaSparkContext(org.apache.spark.api.java.JavaSparkContext) Genome(org.broadinstitute.hellbender.tools.exome.Genome) SegmentedGenome(org.broadinstitute.hellbender.tools.exome.SegmentedGenome) BaseTest(org.broadinstitute.hellbender.utils.test.BaseTest) Test(org.testng.annotations.Test)

Example 82 with Mean

use of org.apache.commons.math3.stat.descriptive.moment.Mean in project gatk by broadinstitute.

the class PosteriorSummaryUtils method calculatePosteriorMode.

/**
     * Given a list of posterior samples, returns an estimate of the posterior mode (using
     * mllib kernel density estimation in {@link KernelDensity} and {@link BrentOptimizer}).
     * Note that estimate may be poor if number of samples is small (resulting in poor kernel density estimation),
     * or if posterior is not unimodal (or is sufficiently pathological otherwise). If the samples contain
     * {@link Double#NaN}, {@link Double#NaN} will be returned.
     * @param samples   posterior samples, cannot be {@code null} and number of samples must be greater than 0
     * @param ctx       {@link JavaSparkContext} used by {@link KernelDensity} for mllib kernel density estimation
     */
public static double calculatePosteriorMode(final List<Double> samples, final JavaSparkContext ctx) {
    Utils.nonNull(samples);
    Utils.validateArg(samples.size() > 0, "Number of samples must be greater than zero.");
    //calculate sample min, max, mean, and standard deviation
    final double sampleMin = Collections.min(samples);
    final double sampleMax = Collections.max(samples);
    final double sampleMean = new Mean().evaluate(Doubles.toArray(samples));
    final double sampleStandardDeviation = new StandardDeviation().evaluate(Doubles.toArray(samples));
    //if samples are all the same or contain NaN, can simply return mean
    if (sampleStandardDeviation == 0. || Double.isNaN(sampleMean)) {
        return sampleMean;
    }
    //use Silverman's rule to set bandwidth for kernel density estimation from sample standard deviation
    //see https://en.wikipedia.org/wiki/Kernel_density_estimation#Practical_estimation_of_the_bandwidth
    final double bandwidth = SILVERMANS_RULE_CONSTANT * sampleStandardDeviation * Math.pow(samples.size(), SILVERMANS_RULE_EXPONENT);
    //use kernel density estimation to approximate posterior from samples
    final KernelDensity pdf = new KernelDensity().setSample(ctx.parallelize(samples, 1)).setBandwidth(bandwidth);
    //use Brent optimization to find mode (i.e., maximum) of kernel-density-estimated posterior
    final BrentOptimizer optimizer = new BrentOptimizer(RELATIVE_TOLERANCE, RELATIVE_TOLERANCE * (sampleMax - sampleMin));
    final UnivariateObjectiveFunction objective = new UnivariateObjectiveFunction(f -> pdf.estimate(new double[] { f })[0]);
    //search for mode within sample range, start near sample mean
    final SearchInterval searchInterval = new SearchInterval(sampleMin, sampleMax, sampleMean);
    return optimizer.optimize(objective, GoalType.MAXIMIZE, searchInterval, BRENT_MAX_EVAL).getPoint();
}
Also used : Mean(org.apache.commons.math3.stat.descriptive.moment.Mean) SearchInterval(org.apache.commons.math3.optim.univariate.SearchInterval) UnivariateObjectiveFunction(org.apache.commons.math3.optim.univariate.UnivariateObjectiveFunction) BrentOptimizer(org.apache.commons.math3.optim.univariate.BrentOptimizer) KernelDensity(org.apache.spark.mllib.stat.KernelDensity) StandardDeviation(org.apache.commons.math3.stat.descriptive.moment.StandardDeviation)

Example 83 with Mean

use of org.apache.commons.math3.stat.descriptive.moment.Mean in project gatk-protected by broadinstitute.

the class ReCapSegCaller method calculateT.

private static double calculateT(final ReadCountCollection tangentNormalizedCoverage, final List<ModeledSegment> segments) {
    //Get the segments that are likely copy neutral.
    // Math.abs removed to mimic python...
    final List<ModeledSegment> copyNeutralSegments = segments.stream().filter(s -> s.getSegmentMean() < COPY_NEUTRAL_CUTOFF).collect(Collectors.toList());
    // Get the targets that correspond to the copyNeutralSegments... note that individual targets, due to noise,
    //  can be far away from copy neutral
    final TargetCollection<ReadCountRecord.SingleSampleRecord> targetsWithCoverage = new HashedListTargetCollection<>(tangentNormalizedCoverage.records().stream().map(ReadCountRecord::asSingleSampleRecord).collect(Collectors.toList()));
    final double[] copyNeutralTargetsCopyRatio = copyNeutralSegments.stream().flatMap(s -> targetsWithCoverage.targets(s).stream()).mapToDouble(ReadCountRecord.SingleSampleRecord::getCount).toArray();
    final double meanCopyNeutralTargets = new Mean().evaluate(copyNeutralTargetsCopyRatio);
    final double sigmaCopyNeutralTargets = new StandardDeviation().evaluate(copyNeutralTargetsCopyRatio);
    // Now we filter outliers by only including those w/in 2 standard deviations.
    final double[] filteredCopyNeutralTargetsCopyRatio = Arrays.stream(copyNeutralTargetsCopyRatio).filter(c -> Math.abs(c - meanCopyNeutralTargets) < sigmaCopyNeutralTargets * Z_THRESHOLD).toArray();
    return new StandardDeviation().evaluate(filteredCopyNeutralTargetsCopyRatio);
}
Also used : Mean(org.apache.commons.math3.stat.descriptive.moment.Mean) Arrays(java.util.Arrays) List(java.util.List) Logger(org.apache.logging.log4j.Logger) StandardDeviation(org.apache.commons.math3.stat.descriptive.moment.StandardDeviation) Utils(org.broadinstitute.hellbender.utils.Utils) LogManager(org.apache.logging.log4j.LogManager) Collectors(java.util.stream.Collectors) Mean(org.apache.commons.math3.stat.descriptive.moment.Mean) StandardDeviation(org.apache.commons.math3.stat.descriptive.moment.StandardDeviation)

Example 84 with Mean

use of org.apache.commons.math3.stat.descriptive.moment.Mean in project gatk-protected by broadinstitute.

the class HDF5PCACoveragePoNCreationUtilsUnitTest method testCalculateReducedPanelAndPInversesUsingJollifesRule.

@Test(dataProvider = "readCountOnlyWithDiverseShapeData")
public void testCalculateReducedPanelAndPInversesUsingJollifesRule(final ReadCountCollection readCounts) {
    final JavaSparkContext ctx = SparkContextFactory.getTestSparkContext();
    final ReductionResult result = HDF5PCACoveragePoNCreationUtils.calculateReducedPanelAndPInverses(readCounts, OptionalInt.empty(), NULL_LOGGER, ctx);
    final RealMatrix counts = readCounts.counts();
    Assert.assertNotNull(result);
    Assert.assertNotNull(result.getPseudoInverse());
    Assert.assertNotNull(result.getReducedCounts());
    Assert.assertNotNull(result.getReducedPseudoInverse());
    Assert.assertNotNull(result.getAllSingularValues());
    Assert.assertEquals(counts.getColumnDimension(), result.getAllSingularValues().length);
    Assert.assertEquals(result.getReducedCounts().getRowDimension(), counts.getRowDimension());
    final int eigensamples = result.getReducedCounts().getColumnDimension();
    final Mean mean = new Mean();
    final double meanSingularValue = mean.evaluate(result.getAllSingularValues());
    final double threshold = HDF5PCACoveragePoNCreationUtils.JOLLIFES_RULE_MEAN_FACTOR * meanSingularValue;
    final int expectedEigensamples = (int) DoubleStream.of(result.getAllSingularValues()).filter(d -> d >= threshold).count();
    Assert.assertTrue(eigensamples <= counts.getColumnDimension());
    Assert.assertEquals(eigensamples, expectedEigensamples);
    assertPseudoInverse(counts, result.getPseudoInverse());
    assertPseudoInverse(result.getReducedCounts(), result.getReducedPseudoInverse());
}
Also used : Mean(org.apache.commons.math3.stat.descriptive.moment.Mean) Array2DRowRealMatrix(org.apache.commons.math3.linear.Array2DRowRealMatrix) RealMatrix(org.apache.commons.math3.linear.RealMatrix) JavaSparkContext(org.apache.spark.api.java.JavaSparkContext) BaseTest(org.broadinstitute.hellbender.utils.test.BaseTest) Test(org.testng.annotations.Test)

Example 85 with Mean

use of org.apache.commons.math3.stat.descriptive.moment.Mean in project gatk by broadinstitute.

the class HDF5LibraryUnitTest method testCreateLargeMatrix.

@Test
public void testCreateLargeMatrix() {
    // Creates a large PoN of junk values and simply tests that these can be written and read.
    // Make a big, fake set of read counts.
    final int numRows = 2500000;
    final int numCols = 10;
    final double mean = 3e-7;
    final double sigma = 1e-9;
    final RealMatrix bigCounts = createMatrixOfGaussianValues(numRows, numCols, mean, sigma);
    final File tempOutputHD5 = IOUtils.createTempFile("big-ol-", ".hd5");
    final HDF5File hdf5File = new HDF5File(tempOutputHD5, HDF5File.OpenMode.CREATE);
    final String hdf5Path = "/test/m";
    hdf5File.makeDoubleMatrix(hdf5Path, bigCounts.getData());
    hdf5File.close();
    final HDF5File hdf5FileForReading = new HDF5File(tempOutputHD5, HDF5File.OpenMode.READ_ONLY);
    final double[][] result = hdf5FileForReading.readDoubleMatrix(hdf5Path);
    final RealMatrix resultAsRealMatrix = new Array2DRowRealMatrix(result);
    Assert.assertTrue(resultAsRealMatrix.getRowDimension() == numRows);
    Assert.assertTrue(resultAsRealMatrix.getColumnDimension() == numCols);
    final RealMatrix readMatrix = new Array2DRowRealMatrix(result);
    PoNTestUtils.assertEqualsMatrix(readMatrix, bigCounts, false);
}
Also used : Array2DRowRealMatrix(org.apache.commons.math3.linear.Array2DRowRealMatrix) RealMatrix(org.apache.commons.math3.linear.RealMatrix) Array2DRowRealMatrix(org.apache.commons.math3.linear.Array2DRowRealMatrix) HDF5File(org.broadinstitute.hdf5.HDF5File) File(java.io.File) HDF5File(org.broadinstitute.hdf5.HDF5File) BaseTest(org.broadinstitute.hellbender.utils.test.BaseTest) Test(org.testng.annotations.Test)

Aggregations

Test (org.testng.annotations.Test)27 Mean (org.apache.commons.math3.stat.descriptive.moment.Mean)23 List (java.util.List)17 RandomGenerator (org.apache.commons.math3.random.RandomGenerator)16 RealMatrix (org.apache.commons.math3.linear.RealMatrix)14 ArrayList (java.util.ArrayList)12 Collectors (java.util.stream.Collectors)12 StandardDeviation (org.apache.commons.math3.stat.descriptive.moment.StandardDeviation)12 Utils (org.broadinstitute.hellbender.utils.Utils)12 StoredDataStatistics (gdsc.core.utils.StoredDataStatistics)10 Arrays (java.util.Arrays)10 IntStream (java.util.stream.IntStream)10 NormalDistribution (org.apache.commons.math3.distribution.NormalDistribution)10 WeightedObservedPoint (org.apache.commons.math3.fitting.WeightedObservedPoint)10 Logger (org.apache.logging.log4j.Logger)10 ReadCountCollection (org.broadinstitute.hellbender.tools.exome.ReadCountCollection)10 ParamUtils (org.broadinstitute.hellbender.utils.param.ParamUtils)10 BaseTest (org.broadinstitute.hellbender.utils.test.BaseTest)10 Function (java.util.function.Function)9 DescriptiveStatistics (org.apache.commons.math3.stat.descriptive.DescriptiveStatistics)9