rd generation and raw-counts output in CollectSVEvidence (#8015)

src/main/java/org/broadinstitute/hellbender/tools/sv/DepthEvidence.java

@@ -1,5 +1,6 @@
 package org.broadinstitute.hellbender.tools.sv;
 
+import htsjdk.samtools.util.Locatable;
 import org.broadinstitute.hellbender.exceptions.UserException;
 import org.broadinstitute.hellbender.utils.Utils;
 
@@ -24,6 +25,10 @@ public DepthEvidence(final String contig, int start, final int end, final int[]
         this.counts = counts;
     }
 
+    public DepthEvidence( final Locatable loc, final int[] counts ) {
+        this(loc.getContig(), loc.getStart(), loc.getEnd(), counts);
+    }
+
     @Override
     public String getContig() {
         return contig;

src/main/java/org/broadinstitute/hellbender/tools/sv/PrintReadCounts.java

@@ -0,0 +1,241 @@
+package org.broadinstitute.hellbender.tools.sv;
+
+import htsjdk.samtools.SAMFileHeader;
+import htsjdk.samtools.SAMReadGroupRecord;
+import htsjdk.samtools.SAMSequenceDictionary;
+import htsjdk.samtools.SAMTextHeaderCodec;
+import htsjdk.samtools.util.RuntimeIOException;
+import htsjdk.tribble.Feature;
+import org.broadinstitute.barclay.argparser.Argument;
+import org.broadinstitute.barclay.argparser.CommandLineProgramProperties;
+import org.broadinstitute.barclay.argparser.ExperimentalFeature;
+import org.broadinstitute.barclay.help.DocumentedFeature;
+import org.broadinstitute.hellbender.cmdline.StandardArgumentDefinitions;
+import org.broadinstitute.hellbender.cmdline.programgroups.StructuralVariantDiscoveryProgramGroup;
+import org.broadinstitute.hellbender.engine.*;
+import org.broadinstitute.hellbender.exceptions.UserException;
+import org.broadinstitute.hellbender.tools.copynumber.formats.metadata.SampleLocatableMetadata;
+import org.broadinstitute.hellbender.tools.copynumber.formats.records.SimpleCount;
+import org.broadinstitute.hellbender.utils.codecs.copynumber.SimpleCountCodec;
+
+import java.io.BufferedWriter;
+import java.io.FileWriter;
+import java.io.IOException;
+import java.util.Collections;
+import java.util.List;
+
+/**
+ * <p>Prints (and optionally subsets) an rd (DepthEvidence) file or a counts file
+ * as one or more (for multi-sample DepthEvidence files) counts files for CNV determination.</p>
+ *
+ * <h3>Inputs</h3>
+ *
+ * <ul>
+ *     <li>
+ *         A locus-sorted DepthEvidence file (name ends with ".rd.txt", ".rd.txt.gz", or "rd.bci"),
+ *         or a counts file (name ends with ".counts.tsv", or ".counts.tsv.gz").
+ *     </li>
+ * </ul>
+ *
+ * <h3>Output</h3>
+ *
+ * <ul>
+ *     <li>
+ *         A counts file (or files) for use by one of the CNV-calling tools.
+ *     </li>
+ * </ul>
+ * <p>The output files are named "{output-prefix}{sample-name}.counts.tsv"</p>
+ *
+ * <h3>Usage example</h3>
+ *
+ * <pre>
+ *     gatk PrintCNVCounts \
+ *       -F input.rd.txt.gz \
+ *       -L chr1
+ * </pre>
+ *
+ * @author Ted Sharpe &lt;[email protected]&gt;
+ */
+@CommandLineProgramProperties(
+        summary = "Prints count files for CNV determination.",
+        oneLineSummary = "Prints count files for CNV determination.",
+        programGroup = StructuralVariantDiscoveryProgramGroup.class
+)
+@ExperimentalFeature
+@DocumentedFeature
+public class PrintReadCounts extends FeatureWalker<Feature> {
+    public static final String INPUT_ARGNAME = "input-counts";
+    public static final String OUTPUT_PREFIX_ARGNAME = "output-prefix";
+    public static final String OUTPUT_FILES_ARGNAME = "output-file-list";
+
+    @Argument(
+            doc = "Input file of counts",
+            fullName = INPUT_ARGNAME,
+            shortName = StandardArgumentDefinitions.FEATURE_SHORT_NAME
+    )
+    private GATKPath inputPath;
+
+    @Argument(
+            doc = "Output file path prefix. Paths have the form \"{output-prefix}{sample-name}.counts.tsv\". " +
+                    "Default is the current working directory.",
+            fullName = OUTPUT_PREFIX_ARGNAME,
+            optional = true
+    )
+    private String outputPrefix = "";
+
+    @Argument(
+            doc = "Two-column list of outputs in the form <sample-name>\\t<output file path>",
+            fullName = OUTPUT_FILES_ARGNAME,
+            shortName = StandardArgumentDefinitions.OUTPUT_SHORT_NAME,
+            optional = true
+    )
+    private String outputFilesFilename;
+
+    private BufferedWriter[] writers;
+    private List<String> sampleNames;
+
+    @Override
+    public GATKPath getDrivingFeaturePath() {
+        return inputPath;
+    }
+
+    @Override
+    protected boolean isAcceptableFeatureType( final Class<? extends Feature> featureType ) {
+        return featureType.equals(DepthEvidence.class) || featureType.equals(SimpleCount.class);
+    }
+
+    @Override
+    public void onTraversalStart() {
+        final Object header = getDrivingFeaturesHeader();
+        if ( header instanceof SampleLocatableMetadata ) {
+            initializeWriter((SampleLocatableMetadata)header);
+        } else if ( header instanceof SVFeaturesHeader ) {
+            initializeWriters((SVFeaturesHeader)header);
+        } else {
+            throw new UserException("Input file has no header.");
+        }
+    }
+
+    @Override
+    public void apply( final Feature feature,
+                       final ReadsContext readsContext,
+                       final ReferenceContext referenceContext,
+                       final FeatureContext featureContext ) {
+        if ( feature instanceof DepthEvidence ) {
+            apply((DepthEvidence)feature);
+        } else {
+            apply((SimpleCount)feature);
+        }
+    }
+
+    @Override
+    public Object onTraversalSuccess() {
+        final int nSamples = sampleNames.size();
+        for ( int idx = 0; idx != nSamples; ++idx ) {
+            try {
+                writers[idx].close();
+            } catch ( final IOException ioe ) {
+                throw new UserException("Failed to close output file for sample " +  sampleNames.get(idx), ioe);
+            }
+        }
+        return null;
+    }
+
+    private void initializeWriter( final SampleLocatableMetadata metadata ) {
+        final String sampleName = metadata.getSampleName();
+        sampleNames = Collections.singletonList(sampleName);
+        writers = new BufferedWriter[1];
+        try ( final BufferedWriter outputFilesWriter =
+                      outputFilesFilename == null ? null :
+                              new BufferedWriter(new FileWriter(outputFilesFilename)) ) {
+            writers[0] = createWriter(sampleName, metadata.toHeader(), outputFilesWriter);
+        } catch ( final IOException ioe ) {
+            throw new UserException("Can't open list of output files " + outputFilesFilename, ioe);
+        }
+    }
+
+    private void initializeWriters( final SVFeaturesHeader featuresHeader ) {
+        sampleNames = featuresHeader.getSampleNames();
+        SAMSequenceDictionary dictionary = featuresHeader.getDictionary();
+        if ( dictionary == null ) {
+            dictionary = getMasterSequenceDictionary();
+            if ( dictionary == null ) {
+                throw new UserException("No dictionary available.  Supply one with --sequence-dictonary.");
+            }
+        }
+        final int nSampleNames = sampleNames.size();
+        writers = new BufferedWriter[nSampleNames];
+        try ( final BufferedWriter outputFilesWriter =
+                      outputFilesFilename == null ? null :
+                              new BufferedWriter(new FileWriter(outputFilesFilename)) ) {
+            for ( int idx = 0; idx != nSampleNames; ++idx ) {
+                final SAMFileHeader samFileHeader = new SAMFileHeader(dictionary);
+                final SAMReadGroupRecord readGroupRecord = new SAMReadGroupRecord("GATKCopyNumber");
+                final String sampleName = sampleNames.get(idx);
+                readGroupRecord.setSample(sampleName);
+                samFileHeader.addReadGroup(readGroupRecord);
+                writers[idx] = createWriter(sampleName, samFileHeader, outputFilesWriter);
+            }
+        } catch ( final IOException ioe ) {
+            throw new UserException("Can't open list of output files " + outputFilesFilename, ioe);
+        }
+    }
+
+    private BufferedWriter createWriter( final String sampleName,
+                                         final SAMFileHeader header,
+                                         final BufferedWriter outputFilesWriter ) {
+        final String filename = outputPrefix + sampleName + ".counts.tsv";
+        if ( outputFilesWriter != null ) {
+            try {
+                outputFilesWriter.write(sampleName + "\t" + filename);
+                outputFilesWriter.newLine();
+            } catch ( final IOException ioe ) {
+                throw new UserException("Can't write to list of output files " + outputFilesFilename, ioe);
+            }
+        }
+
+        final BufferedWriter writer;
+        try {
+            writer = new BufferedWriter(new FileWriter(filename));
+        } catch ( final IOException ioe ) {
+            throw new UserException("Can't open " + filename + " for output.", ioe);
+        }
+        try {
+            new SAMTextHeaderCodec().encode(writer, header, true);
+        } catch ( final RuntimeIOException ioe ) {
+            throw new UserException("Can't write header to " + filename, ioe);
+        }
+        try {
+            writer.write("CONTIG\tSTART\tEND\tCOUNT");
+            writer.newLine();
+        } catch ( final IOException ioe ) {
+            throw new UserException("Can't writer column header to " + filename, ioe);
+        }
+        return writer;
+    }
+
+    private void apply( final SimpleCount simpleCount ) {
+        final BufferedWriter writer = writers[0];
+        try {
+            writer.write(SimpleCountCodec.encode(simpleCount));
+            writer.newLine();
+        } catch ( final IOException ioe ) {
+            throw new UserException("Can't write record to output.", ioe);
+        }
+    }
+
+    private void apply( final DepthEvidence depthEvidence ) {
+        // don't use DepthEvidence codec to encode--we want 1-based coordinates
+        final String intervalFields =
+                depthEvidence.getContig() + "\t" + depthEvidence.getStart() + "\t" + depthEvidence.getEnd() + "\t";
+        final int[] counts = depthEvidence.getCounts();
+        for ( int idx = 0; idx != writers.length; ++idx ) {
+            try {
+                writers[idx].write(intervalFields + counts[idx]);
+                writers[idx].newLine();
+            } catch ( final IOException ioe ) {
+                throw new UserException("Can't write to output file for sample " + sampleNames.get(idx), ioe);
+            }
+        }
+    }
+}