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...te/hellbender/tools/spark/sv/integration/CpxVariantReInterpreterSparkIntegrationTest.java
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package org.broadinstitute.hellbender.tools.spark.sv.integration; | ||
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import htsjdk.samtools.SAMFileHeader; | ||
import htsjdk.samtools.SAMSequenceDictionary; | ||
import htsjdk.variant.variantcontext.VariantContext; | ||
import org.apache.hadoop.fs.Path; | ||
import org.apache.logging.log4j.LogManager; | ||
import org.apache.logging.log4j.Logger; | ||
import org.apache.spark.api.java.JavaRDD; | ||
import org.apache.spark.api.java.JavaSparkContext; | ||
import org.broadinstitute.hellbender.CommandLineProgramTest; | ||
import org.broadinstitute.hellbender.engine.FeatureDataSource; | ||
import org.broadinstitute.hellbender.engine.datasources.ReferenceMultiSource; | ||
import org.broadinstitute.hellbender.engine.datasources.ReferenceWindowFunctions; | ||
import org.broadinstitute.hellbender.engine.spark.SparkContextFactory; | ||
import org.broadinstitute.hellbender.engine.spark.datasources.ReadsSparkSource; | ||
import org.broadinstitute.hellbender.engine.spark.datasources.VariantsSparkSource; | ||
import org.broadinstitute.hellbender.tools.spark.sv.StructuralVariationDiscoveryArgumentCollection; | ||
import org.broadinstitute.hellbender.tools.spark.sv.discovery.AnnotatedVariantProducer; | ||
import org.broadinstitute.hellbender.tools.spark.sv.discovery.SvDiscoveryInputMetaData; | ||
import org.broadinstitute.hellbender.tools.spark.sv.discovery.inference.SegmentedCpxVariantSimpleVariantExtractor; | ||
import org.broadinstitute.hellbender.tools.spark.sv.utils.GATKSVVCFConstants; | ||
import org.broadinstitute.hellbender.tools.spark.sv.utils.SVVCFWriter; | ||
import org.broadinstitute.hellbender.utils.Utils; | ||
import org.broadinstitute.hellbender.utils.io.IOUtils; | ||
import org.broadinstitute.hellbender.utils.read.GATKRead; | ||
import org.broadinstitute.hellbender.utils.test.ArgumentsBuilder; | ||
import org.broadinstitute.hellbender.utils.test.MiniClusterUtils; | ||
import org.testng.Assert; | ||
import org.testng.annotations.DataProvider; | ||
import org.testng.annotations.Test; | ||
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import java.io.File; | ||
import java.util.ArrayList; | ||
import java.util.Arrays; | ||
import java.util.List; | ||
import java.util.stream.Collectors; | ||
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public class CpxVariantReInterpreterSparkIntegrationTest extends CommandLineProgramTest { | ||
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private final String complexVCF = "/Users/shuang/Desktop/callsets/reInterpret/accumulate.vcf"; | ||
private final String assemblyAlignmentsAccompanyingComplexVCF = "/Users/shuang/Desktop/callsets/reInterpret/accumulate.sam"; | ||
private final String twoBitRefURL = "/Users/shuang/Ref/Homo_sapiens_assembly38.2bit"; | ||
private final String nonCanonicalChromosomeNamesFile = "/Users/shuang/Project/SV/Misc/Homo_sapiens_assembly38.kill.alts"; | ||
private static final List<String> annotationsToIgnoreWhenComparingVariants = | ||
Arrays.asList(GATKSVVCFConstants.ALIGN_LENGTHS, | ||
GATKSVVCFConstants.CONTIG_NAMES, | ||
GATKSVVCFConstants.INSERTED_SEQUENCE_MAPPINGS, | ||
GATKSVVCFConstants.TOTAL_MAPPINGS, | ||
GATKSVVCFConstants.SPLIT_READ_SUPPORT, | ||
GATKSVVCFConstants.READ_PAIR_SUPPORT); | ||
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private static final String expectedSimpleVCF = ""; | ||
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// an integrative test by reading multi segment complex variant calls from a test file | ||
@Test(groups = "sv", enabled = false) | ||
public void integrativeTestExtractingSimpleVariantsFromMultiSegmentCalls() { | ||
final Logger localLogger = LogManager.getLogger(AnnotatedVariantProducer.class); | ||
final JavaSparkContext ctx = SparkContextFactory.getTestSparkContext(); | ||
final JavaRDD<VariantContext> complexVariants = new VariantsSparkSource(ctx) | ||
.getParallelVariantContexts(complexVCF, null); | ||
final ReadsSparkSource readsSparkSource = new ReadsSparkSource(ctx); | ||
final JavaRDD<GATKRead> assemblyAlignments = readsSparkSource | ||
.getParallelReads(assemblyAlignmentsAccompanyingComplexVCF, twoBitRefURL); | ||
final SAMFileHeader headerForReads = readsSparkSource | ||
.getHeader(assemblyAlignmentsAccompanyingComplexVCF, twoBitRefURL); | ||
final ReferenceMultiSource reference = new ReferenceMultiSource(twoBitRefURL, ReferenceWindowFunctions.IDENTITY_FUNCTION); | ||
final StructuralVariationDiscoveryArgumentCollection.DiscoverVariantsFromContigsAlignmentsSparkArgumentCollection discoverStageArgs = | ||
new StructuralVariationDiscoveryArgumentCollection.DiscoverVariantsFromContigsAlignmentsSparkArgumentCollection(); | ||
final String output = IOUtils.createTempFile("cpxReinterpretation", ".vcf").getAbsolutePath(); | ||
final SvDiscoveryInputMetaData svDiscoveryInputMetaData = | ||
new SvDiscoveryInputMetaData(ctx, discoverStageArgs, nonCanonicalChromosomeNamesFile, | ||
output, null, null, null, null, | ||
headerForReads, reference, localLogger); | ||
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try ( final FeatureDataSource<VariantContext> dataSource = | ||
new FeatureDataSource<>(expectedSimpleVCF, null, 0, VariantContext.class) ) { | ||
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final SegmentedCpxVariantSimpleVariantExtractor.ExtractedSimpleVariants extract = | ||
SegmentedCpxVariantSimpleVariantExtractor.extract(complexVariants, svDiscoveryInputMetaData, assemblyAlignments); | ||
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Assert.assertTrue(extract.getReInterpretZeroOrOneSegmentCalls().isEmpty()); | ||
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final SAMSequenceDictionary sequenceDictionary = headerForReads.getSequenceDictionary(); | ||
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final List<VariantContext> actual = SVVCFWriter | ||
.sortVariantsByCoordinate(extract.getReInterpretMultiSegmentsCalls(), sequenceDictionary); | ||
final List<VariantContext> expected = SVVCFWriter | ||
.sortVariantsByCoordinate(Utils.stream(dataSource.iterator()).collect(Collectors.toList()), sequenceDictionary); | ||
Assert.assertEquals(actual, expected); | ||
} | ||
} | ||
private static final class CpxVariantReInterpreterSparkIntegrationTestArgs { | ||
final String outputDir; | ||
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CpxVariantReInterpreterSparkIntegrationTestArgs(final String outputDir) { | ||
this.outputDir = outputDir; | ||
} | ||
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String getCommandLine() { | ||
return " -R " + SVIntegrationTestDataProvider.reference_2bit + | ||
" -I " + SVIntegrationTestDataProvider.TEST_CONTIG_SAM + | ||
" -O " + outputDir + "/DiscoverVariantsFromContigAlignmentsSAMSparkIntegrationTest"; | ||
} | ||
} | ||
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@DataProvider(name = "forCpxVariantReInterpreterSparkIntegrationTest") | ||
private Object[][] createData() { | ||
List<Object[]> data = new ArrayList<>(); | ||
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return data.toArray(new Object[data.size()][]); | ||
} | ||
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@Test(groups = "sv", dataProvider = "forCpxVariantReInterpreterSparkIntegrationTest", enabled = false) | ||
public void testRunLocal(final CpxVariantReInterpreterSparkIntegrationTestArgs params) throws Exception { | ||
final List<String> args = Arrays.asList( new ArgumentsBuilder().add(params.getCommandLine()).getArgsArray() ); | ||
runCommandLine(args); | ||
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StructuralVariationDiscoveryPipelineSparkIntegrationTest.svDiscoveryVCFEquivalenceTest(expectedSimpleVCF, | ||
SVIntegrationTestDataProvider.EXPECTED_SIMPLE_DEL_VCF, null, | ||
annotationsToIgnoreWhenComparingVariants, false); | ||
} | ||
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@Test(groups = "sv", dataProvider = "forCpxVariantReInterpreterSparkIntegrationTest", enabled = false) | ||
public void testRunHDFS(final CpxVariantReInterpreterSparkIntegrationTestArgs params) throws Exception { | ||
MiniClusterUtils.runOnIsolatedMiniCluster(cluster -> { | ||
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final List<String> argsToBeModified = Arrays.asList( new ArgumentsBuilder().add(params.getCommandLine()).getArgsArray() ); | ||
final Path workingDirectory = MiniClusterUtils.getWorkingDir(cluster); | ||
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int idx = 0; | ||
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idx = argsToBeModified.indexOf("-I"); | ||
Path path = new Path(workingDirectory, "hdfs.sam"); | ||
File file = new File(argsToBeModified.get(idx+1)); | ||
cluster.getFileSystem().copyFromLocalFile(new Path(file.toURI()), path); | ||
argsToBeModified.set(idx+1, path.toUri().toString()); | ||
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idx = argsToBeModified.indexOf("-R"); | ||
path = new Path(workingDirectory, "reference.2bit"); | ||
file = new File(argsToBeModified.get(idx+1)); | ||
cluster.getFileSystem().copyFromLocalFile(new Path(file.toURI()), path); | ||
argsToBeModified.set(idx+1, path.toUri().toString()); | ||
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// outputs, prefix with hdfs address | ||
idx = argsToBeModified.indexOf("-O"); | ||
path = new Path(workingDirectory, "test"); | ||
final String vcfOnHDFS = path.toUri().toString() + "_sample_inv_del_ins.vcf"; | ||
argsToBeModified.set(idx+1, path.toUri().toString()); | ||
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runCommandLine(argsToBeModified); | ||
StructuralVariationDiscoveryPipelineSparkIntegrationTest.svDiscoveryVCFEquivalenceTest( | ||
vcfOnHDFS, | ||
SVIntegrationTestDataProvider.EXPECTED_SIMPLE_DEL_VCF, | ||
null, | ||
annotationsToIgnoreWhenComparingVariants, | ||
true); | ||
}); | ||
} | ||
} |