Package org.broadinstitute.gatk.tools.walkers.bqsr

Source Code of org.broadinstitute.gatk.tools.walkers.bqsr.AnalyzeCovariates

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package org.broadinstitute.gatk.tools.walkers.bqsr;

import com.google.java.contract.Requires;
import org.broadinstitute.gatk.utils.commandline.Argument;
import org.broadinstitute.gatk.utils.commandline.Input;
import org.broadinstitute.gatk.utils.commandline.Output;
import org.broadinstitute.gatk.engine.CommandLineGATK;
import org.broadinstitute.gatk.engine.contexts.AlignmentContext;
import org.broadinstitute.gatk.engine.contexts.ReferenceContext;
import org.broadinstitute.gatk.engine.refdata.RefMetaDataTracker;
import org.broadinstitute.gatk.engine.walkers.RodWalker;
import org.broadinstitute.gatk.utils.Utils;
import org.broadinstitute.gatk.utils.exceptions.UserException;
import org.broadinstitute.gatk.utils.help.DocumentedGATKFeature;
import org.broadinstitute.gatk.utils.help.HelpConstants;
import org.broadinstitute.gatk.utils.recalibration.RecalUtils;
import org.broadinstitute.gatk.utils.recalibration.RecalibrationReport;
import org.broadinstitute.gatk.utils.recalibration.BaseRecalibration;

import java.io.File;
import java.io.FileNotFoundException;
import java.io.IOException;
import java.util.LinkedHashMap;
import java.util.Map;


/**
* Tool to analyze and evaluate base recalibration tables.
* <p/>
* It generates plots to assess the quality of a recalibration run.
*
* <h3>Input</h3>
*
* The tool can take up to three different sets of recalibration tables.
* The resulting plots will be overlaid on top of each other to make
* comparisons easy.
*
* <table style="text-align: left">
*     <thead>
*       <tr><th>Set</th><th>Argument</th><th>Label</th><th>Color</th><th>Description</th></tr>
*     </thead>
*     <tbody>
*       <tr><td>Original</td><td>-before</td><td>BEFORE</td><td style="color: #ff34b3">Maroon1</td>
*         <td>First pass recalibration
*             tables obtained from applying {@link BaseRecalibration}
*             on the original alignment.</td></tr>
*       <tr><td>Recalibrated</td><td>-after</td><td>AFTER</td><td style="color: #0000ff">Blue</td>
*         <td>Second pass recalibration tables
*             results from the application of {@link BaseRecalibration}
*             on the alignment recalibrated using the first pass tables</td></tr>
*       <tr><td>Input</td><td>-BQSR</td><td>BQSR</td><td style="color: #000000">Black</td>
*           <td>Any recalibration table without a specific role</td></tr>
*     </tbody>
* </table>
* <br/>
*
* You need to specify one set at least. Multiple sets need to have the same values for the following parameters:
* <br/></br>
* <i>covariate (order is not important), no_standard_covs, run_without_dbsnp, solid_recal_mode,
* solid_nocall_strategy, mismatches_context_size, mismatches_default_quality, deletions_default_quality,
* insertions_default_quality, maximum_cycle_value, low_quality_tail, default_platform, force_platform,
* quantizing_levels</i> and <i>binary_tag_name</i>
* <h3>Output</h3>
*
* Currently this tool generates two outputs:
*
* <dl>
*   <dt style="font-weight: normal">-plots <i>my-report.pdf</i></dt>
*   <dd>A pdf document that encloses plots to assess the quality of the recalibration.</dd>
*   <dt style="font-weight: normal">-csv <i>my-report.csv</i></dt>
*   <dd>A csv file that contains a table with all the data required to generate those plots.</dd>
* </dl>
*
* You need to specify at least one of them.
*
* <h3>Other Arguments</h3>
*
* <h4>-ignoreLMT, --ignoreLastModificationTimes</h4>
*
* when set, no warning message will be displayed in the -before recalibration table file is older than the -after one.
*
* <h3>Examples</h3>
*
*
* <h4>Plot a single recalibration table</h4>
* <pre>
* java -jar GenomeAnalysisTK.jar \
*      -T AnalyzeCovariates \
*      -R myrefernce.fasta \
*      -BQSR myrecal.table \
*      -plots BQSR.pdf
* </pre>
*
* <h4>Plot before (first pass) and after (second pass) recalibration table to compare them</h4>
*
* <pre>
* java -jar GenomeAnalysisTK.jar \
*      -T AnalyzeCovariates \
*      -R myrefernce.fasta \
*      -before recal2.table \
*      -after recal3.table \
*      -plots recalQC.pdf
* </pre>
*
* <h4>Plot up to three recalibration tables for comparison</h4>
*
* <pre>
*
* # You can ignore the before/after semantics completely if you like (if you do add -ignoreLMT
* # to avoid a possible warning), but all tables should have been generated using the same parameters.
*
* java -jar GenomeAnalysisTK.jar \
*      -T AnalyzeCovariates \
*      -R myrefernce.fasta \
*      -ignoreLMT \
*      -BQSR recal1.table \   # you can discard any two
*      -before recal2.table \
*      -after recal3.table \
*      -plots myrecals.pdf
* </pre>
*
* <h4>Full BQSR quality assessment pipeline</h4>
*
* <pre>
* # Generate the first pass recalibration table file.
* java -jar GenomeAnalysisTK.jar \
*      -T BaseRecalibrator \
*      -R myreference.fasta \
*      -I myinput.bam \
*      -knownSites bundle/my-trusted-snps.vcf \ # optional but recommendable
*      -knownSites bundle/my-trusted-indels.vcf \ # optional but recommendable
*      ... other options
*      -o firstpass.table
*
* # Generate the second pass recalibration table file.
* java -jar GenomeAnalysisTK.jar \
*      -T BaseRecalibrator \
*      -BQSR firstpass.table \
*      -R myreference.fasta \
*      -I myinput.bam \
*      -knownSites bundle/my-trusted-snps.vcf \
*      -knownSites bundle/my-trusted-indels.vcf \
*      ... other options \
*      -o secondpass.table
*
* # Finally generate the plots and also keep a copy of the csv (optional).
* java -jar GenomeAnalysisTK.jar \
*      -T AnalyzeCovariates \
*      -R myrefernce.fasta \
*      -before firstpass.table \
*      -after secondpass.table \
*      -csv BQSR.csv \ # optional
*      -plots BQSR.pdf
* </pre>
*
* @author Valentin Ruano-Rubio &lt;valentin@broadinstitute.org&gt;
* @version 6/16/2013
* @since 2.6
*/
@DocumentedGATKFeature(groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class})
public final class AnalyzeCovariates extends RodWalker<AnalyzeCovariates.None,AnalyzeCovariates.None> {


    // Constants on option short names that are used in some error/warning messages:

    static final String CSV_ARG_SHORT_NAME = "csv";
    static final String PDF_ARG_SHORT_NAME = "plots";
    static final String BEFORE_ARG_SHORT_NAME = "before";
    static final String AFTER_ARG_SHORT_NAME = "after";

    /**
     * File containing the recalibration tables from the first pass.
     */
    @Input(shortName=BEFORE_ARG_SHORT_NAME,fullName="beforeReportFile", doc = "file containing the BQSR first-pass report file",required = false)
    protected File beforeFile = null;

    /**
     * File containing the recalibration tables from the second pass.
     */
    @Input(shortName=AFTER_ARG_SHORT_NAME, fullName="afterReportFile", doc = "file containing the BQSR second-pass report file",required = false)
    protected File afterFile = null;

    /**
     * If true, it won't show a warning if the last-modification time of the before and after input files suggest that they have been reversed.
     */
    @Argument(shortName="ignoreLMT", fullName="ignoreLastModificationTimes", doc= "do not emit warning messages related to suspicious last modification time order of inputs", required = false)
    protected boolean ignoreLastModificationTime = false;

    /**
     * Output report file name.
     */
    @Output(shortName=PDF_ARG_SHORT_NAME, fullName="plotsReportFile" ,doc = "location of the output report", required = false)
    protected File pdfFile = null;

    /**
     * Output csv file name.
     */
    @Output(shortName=CSV_ARG_SHORT_NAME,fullName="intermediateCsvFile" ,doc = "location of the csv intermediate file", required = false)
    protected File csvFile = null;

    /**
     * Convenience reference to the RECAL_BQSR_FILE argument value.
     * <p/>
     * This field value is resolved by {@link #initialize()}.
     */
    protected File bqsrFile = null;

    /**
     * Checks inputs and argument values.
     * <p/>
     * Notice that this routine will not validate the content of files. It may have some minor side effects as
     * the output of warning messages back to the user.
     *
     * @throw IllegalStateException there is some required argument value that has not been loaded yet.
     * @throw UserException if there is some error caused by or under the end user's control.
     */
    private void checkArgumentsValues() {
        checkInputReportFile("BQSR",bqsrFile);
        checkInputReportFile("before",beforeFile);
        checkInputReportFile("after",afterFile);
        if (bqsrFile == null && beforeFile == null && afterFile == null) {
            throw new UserException("you must provide at least one recalibration report file "
                    + "(arguments -BQSR, -" + BEFORE_ARG_SHORT_NAME + " or -" + AFTER_ARG_SHORT_NAME);
        }

        checkOutputFile(PDF_ARG_SHORT_NAME,pdfFile);
        checkOutputFile(CSV_ARG_SHORT_NAME, csvFile);
        checkInputReportFileLMT(beforeFile,afterFile);
        checkOutputRequested();
    }

    /**
     * Checks whether the last-modification-time of the inputs is consistent with their relative roles.
     *
     * This routine does not thrown an exception but may output a warning message if inconsistencies are spotted.
     *
     * @param beforeFile the before report file.
     * @param afterFile  the after report file.
     */
    private void checkInputReportFileLMT(final File beforeFile, final File afterFile) {

        if (ignoreLastModificationTime  || beforeFile == null || afterFile == null) {
            return; // nothing to do here
        } else if (beforeFile.lastModified() > afterFile.lastModified()) {
            Utils.warnUser("Last modification timestamp for 'Before' and 'After'"
                    + "recalibration reports are in the wrong order. Perhaps, have they been swapped?");
        }
    }

    /**
     * Checks that at least one output was requested.
     *
     * @throw UserException if no output was requested.
     */
    private void checkOutputRequested() {
        if (pdfFile == null && csvFile == null) {
            throw new UserException("you need to request at least one output:"
                    + " the intermediate csv file (-" + CSV_ARG_SHORT_NAME + " FILE)"
                    + " or the final plot file (-" + PDF_ARG_SHORT_NAME + " FILE).");
        }
    }

    /**
     * Checks the value provided to input file arguments.
     *
     * @throw UserException if there is any problem cause by or under the end user's control
     *
     * @param name command line argument short name.
     * @param value the argument value.
     */
    private void checkInputReportFile(final String name,final File value) {
        if (value == null) {
            return;
        } else if (!value.exists()) {
            throw new UserException.BadArgumentValue(name, "input report '" +
                    value + "' does not exist or is unreachable");
        } else if (!value.isFile()) {
            throw new UserException.BadArgumentValue(name, "input report '" +
                    value + "' is not a regular file");
        } else if (!value.canRead()) {
            throw new UserException.BadArgumentValue(name, "input report '" +
                    value + "' cannot be read");
        }
    }

    /**
     * Checks the value provided for output arguments.
     *
     * @throw UserException if there is any problem cause by or under the end user's control
     *
     * @param name command line argument short name.
     * @param value the argument value.
     */
    private void checkOutputFile(final String name, final File value) {
        if (value == null) {
            return;
        }
        if (value.exists() && !value.isFile()) {
            throw new UserException.BadArgumentValue(name, "the output file location '"
                    + value + "' exists as not a file");
        }
        final File parent = value.getParentFile();
        if (parent == null) {
            return;
        }
        if (!parent.exists()) {
            throw new UserException.BadArgumentValue(name, "the output file parent directory '"
                    + parent + "' does not exists or is unreachable");
        } else if (!parent.isDirectory()) {
            throw new UserException.BadArgumentValue(name, "the output file parent directory '"
                    + parent + "' is not a directory");
        } else if (!parent.canWrite()) {
            throw new UserException.BadArgumentValue(name, "the output file parent directory '"
                    + parent + "' cannot be written");
        }

    }

    /**
     * Generates the plots using the external R script.
     *
     * <p/>
     * If <code>plotsFile</code> is <code>null</code>, it does not perform any plotting.
     *
     * @param csvFile the intermediary csv file.
     * @param plotsFile the output plot location.
     */
    private void generatePlots(final File csvFile, final Map<String,File> reportFiles, final File plotsFile) {

        if (plotsFile == null) {
            return;
        }
        logger.info("Generating plots file '" + plotsFile + "'");
        final File exampleReportFile = reportFiles.values().iterator().next();
        RecalUtils.generatePlots(csvFile,exampleReportFile,plotsFile);
    }

    @Override
    public void initialize() {
        super.initialize();
        bqsrFile = getToolkit().getArguments().BQSR_RECAL_FILE;
        checkArgumentsValues();
        final Map<String, File> reportFiles = buildReportFileMap();
        final Map<String, RecalibrationReport> reports = buildReportMap(reportFiles);
        checkReportConsistency(reports);
        final File csvFile = resolveCsvFile();
        generateCsvFile(csvFile,reports);
        final File plotFile = resolvePlotFile();
        generatePlots(csvFile, reportFiles, plotFile);
    }

    /**
     * Returns the plot output file
     * @return might be <code>null</code> if the user has not indicated and output file.
     */
    private File resolvePlotFile() {
        return pdfFile;
    }

    /**
     * Generates the intermediary Csv file.
     *
     * @param csvFile where to write the file.
     * @param reports the reports to be included.
     */
    private void generateCsvFile(final File csvFile, final Map<String, RecalibrationReport> reports) {
        try {
            logger.info("Generating csv file '" + csvFile + "'");
            RecalUtils.generateCsv(csvFile, reports);
        } catch (FileNotFoundException e) {
            throw new UserException(
                    String.format("There is a problem creating the intermediary Csv file '%s': %s",
                            csvFile,e.getMessage()),e);
        }
    }

    /**
     * Checks whether multiple input recalibration report files argument values are consistent (equal).
     *
     * @param reports map with report to verify.
     *
     * @throw UserException if there is any inconsistency.
     */
    private void checkReportConsistency(final Map<String, RecalibrationReport> reports) {
        final Map.Entry<String,RecalibrationReport>[] reportEntries =
                reports.entrySet().toArray((Map.Entry<String,RecalibrationReport>[]) new Map.Entry[reports.size()]);

        final Map.Entry<String,RecalibrationReport> exampleEntry = reportEntries[0];

        for (int i = 1; i < reportEntries.length; i++) {
            final Map<String,? extends CharSequence> diffs = exampleEntry.getValue().getRAC().compareReportArguments(
                    reportEntries[i].getValue().getRAC(),exampleEntry.getKey(),reportEntries[i].getKey());
            if (diffs.size() != 0) {
                throw new UserException.IncompatibleRecalibrationTableParameters("There are differences in relevant arguments of"
                        + " two or more input recalibration reports. Please make sure"
                        + " they have been created using the same recalibration parameters."
                        + " " + Utils.join("// ", reportDifferencesStringArray(diffs)));
            }
        }
    }


    /**
     * Creates a map with all input recalibration files indexed by their "role".
     * <p/>
     * The key is the role and the value the corresponding report file.
     * <p/>
     * Roles: "Before" (recalibration), "After" (recalibration), "BQSR" (the tool standard argument recalibration file)
     *
     * @return never <code>null</code>
     */
    private Map<String, File> buildReportFileMap() {
        final Map<String,File> reports = new LinkedHashMap<>(3);
        if (bqsrFile != null) {
            reports.put("BQSR",bqsrFile);
        }
        if (beforeFile != null) {
            reports.put("Before",beforeFile);
        }
        if (afterFile != null) {
            reports.put("After",afterFile);
        }
        return reports;
    }

    /**
     * Transforms a recalibration file map into a report object map.
     *
     * @param reportFileMap the file map to transforms.
     * @return never <code>null</code>, a new map with the same size as
     *  <code>reportFileMap</code> and the same key set.
     */
    @Requires("reportFileMap != null")
    private Map<String, RecalibrationReport> buildReportMap(final Map<String, File> reportFileMap) {
        final Map<String,RecalibrationReport> reports = new LinkedHashMap<>(reportFileMap.size());
        for (final Map.Entry<String,File> e : reportFileMap.entrySet()) {
            reports.put(e.getKey(),new RecalibrationReport(e.getValue()));
        }
        return reports;
    }

    /**
     * Generates a flatter String array representation of recalibration argument differences.
     * @param diffs the differences to represent.
     *
     * @return never <code>null</code>, an array of the same length as the size of the input <code>diffs</code>.
     */
    @Requires("diffs != null")
    private String[] reportDifferencesStringArray(final Map<String, ? extends CharSequence> diffs) {
        final String[] result = new String[diffs.size()];
        int i = 0;
        for (final Map.Entry<String, ? extends CharSequence> e : diffs.entrySet()) {
            result[i++] = capitalize(e.getKey()) + ": " + e.getValue();
        }
        return result;
    }

    /**
     * Returns the input string capitalizing the first letter.
     *
     * @param str the string to capitalize
     * @return never <code>null</code>.
     */
    @Requires("str != null")
    private String capitalize(final String str) {
        if (str.isEmpty()) {
            return str;
        } else {
            return Character.toUpperCase(str.charAt(0)) + str.substring(1);
        }
    }

    /**
     * Returns the csv file to use.
     * <p/>
     * This is the the one specified by the user if any or a temporary file
     * that will be deleted as soon as the VM exists by default.
     *
     * @return never <code>null</code>.
     */
    private File resolveCsvFile() {
        if (csvFile != null)  {
            return csvFile;
        } else {
            try {
              final File result = File.createTempFile("AnalyzeCovariates", ".csv");
              result.deleteOnExit();
              return result;
            } catch (IOException e) {
                throw new UserException("Could not create temporary Csv file",e);
            }
        }
    }

    /**
     * Always return true, forcing the immediate termination of the travesal.
     * @return
     */
    @Override
    public boolean isDone() {
        return true;
    }

    /**
     * {@inheritDoc}
     */
    @Override
    public None reduceInit() {
        return new None();
    }

    /**
     * Is not supposed to ever be called, thus it always results in an exception.
     *
     * @throws IllegalStateException always.
     */
    @Override
    public None reduce(None value, None sum) {
        throw new IllegalStateException("AnalyzeCovariates reduce method is not supposed to be invoked ever");
    }


    /**
     * Is not supposed to ever be called, thus it always results in an exception.
     *
     * @throws IllegalStateException always.
     */
    @Override
    public None map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
        throw new IllegalStateException("AnalyzeCovariates map method is not supposed to be invoked ever");
    }

    /**
     * Dummy map and reduce types for the {@link AnalyzeCovariates} tool that in fact does not do any traversal.
     */
    protected static class None {
        private None() {
        }
    }
}

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Related Classes of org.broadinstitute.gatk.tools.walkers.bqsr.AnalyzeCovariates

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