Initial commit of integration test(s) for CoverageStatistics, currently in progress [midway commit is for Matt]
Modifications to CoverageStatistics - now includes and extends much of the behavior of DepthOfCoverage (per-base output, per-target output). Additional functionality (coverage without deletions, base counts, by read group instead of by sample) is upcoming. git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2888 348d0f76-0448-11de-a6fe-93d51630548a
This commit is contained in:
parent
553d39bb00
commit
3d92e5a737
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@ -8,6 +8,8 @@ import org.broadinstitute.sting.gatk.walkers.By;
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import org.broadinstitute.sting.gatk.walkers.DataSource;
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import org.broadinstitute.sting.gatk.walkers.LocusWalker;
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import org.broadinstitute.sting.gatk.walkers.TreeReducible;
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import org.broadinstitute.sting.utils.GenomeLoc;
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import org.broadinstitute.sting.utils.Pair;
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import org.broadinstitute.sting.utils.StingException;
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import org.broadinstitute.sting.utils.cmdLine.Argument;
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import org.broadinstitute.sting.utils.pileup.PileupElement;
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@ -15,7 +17,6 @@ import org.broadinstitute.sting.utils.pileup.PileupElement;
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import java.io.File;
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import java.io.IOException;
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import java.io.PrintStream;
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import java.io.PrintWriter;
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import java.util.HashMap;
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import java.util.List;
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import java.util.Map;
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@ -27,13 +28,21 @@ import java.util.Set;
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* distribution of % bases and % targets covered for certain depths. The granularity of DOC can be set by command
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* line arguments.
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*
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* // todo -- alter logarithmic scaling to spread out bins more
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* // todo -- allow for user to set linear binning (default is logarithmic)
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* // todo -- add per target (e.g. regional) aggregation
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*
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* @Author chartl
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* @Date Feb 22, 2010
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*/
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// todo [DONE] -- add per target (e.g. regional) aggregation
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// todo [DONE] -- add ability to print out the calculated bins and quit (for pre-analysis bin size selection)
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// todo -- refactor the location of the ALL_SAMPLE metrics [keep out of the per-sample HashMaps]
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// todo [DONE] -- per locus output through -o
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// todo -- support for using read groups instead of samples
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// todo -- coverage without deletions
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// todo -- base counts
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// todo -- support for aggregate (ignoring sample IDs) granular histograms; maybe n*[start,stop], bins*sqrt(n)
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// todo -- alter logarithmic scaling to spread out bins more
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// todo -- allow for user to set linear binning (default is logarithmic)
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// todo -- formatting --> do something special for end bins in getQuantile(int[] foo), this gets mushed into the end+-1 bins for now
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@By(DataSource.REFERENCE)
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public class CoverageStatistics extends LocusWalker<Map<String,Integer>, DepthOfCoverageStats> implements TreeReducible<DepthOfCoverageStats> {
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@Argument(fullName = "start", doc = "Starting (left endpoint) for granular binning", required = false)
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@ -46,17 +55,42 @@ public class CoverageStatistics extends LocusWalker<Map<String,Integer>, DepthOf
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byte minMappingQuality = 50;
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@Argument(fullName = "minBaseQuality", shortName = "mbq", doc = "Minimum quality of bases to count towards depth. Defaults to 20.", required = false)
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byte minBaseQuality = 20;
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@Argument(fullName = "perLocusStatisticsFile", shortName = "locusFile", doc = "File to output per-locus statistics to; if unprovided these will not be calculated", required = false)
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File perLocusStatisticsFile = null;
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@Argument(fullName = "perSampleStatisticsFile", shortName = "sampleFile", doc = "File to output per-sample statistics to; if unprovided will go to standard (-o) output", required = false)
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File perSampleStatisticsFile = null;
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@Argument(fullName = "summaryStatisticsFile", shortName = "summaryFile", doc = "File to output summary (mean, median) statistics to; if unprovided will go to standard (-o) output", required = false)
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File summaryStatisticsFile = null;
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@Argument(fullName = "omitLocusTable", shortName = "omitLocus", doc = "Will not calculate the per-sample per-depth counts of loci, which should result in speedup", required = false)
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boolean omitLocusTable = false;
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@Argument(fullName = "omitIntervalStatistics", shortName = "omitIntervals", doc = "Will omit the per-interval statistics section, which should result in speedup", required = false)
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boolean omitIntervals = false;
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@Argument(fullName = "omitDepthOutputAtEachBase", shortName = "omitBaseOutput", doc = "Will omit the output of the depth of coverage at each base, which should result in speedup", required = false)
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boolean omitDepthOutput = false;
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@Argument(fullName = "printBinEndpointsAndExit", doc = "Prints the bin values and exits immediately. Use to calibrate what bins you want before running on data.", required = false)
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boolean printBinEndpointsAndExit = false;
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@Argument(fullName = "omitPerSampleStats", shortName = "omitSampleSummary", doc = "Omits the summary files per-sample. These statistics are still calculated, so this argument will not improve runtime.", required = false)
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boolean omitSampleSummary = false;
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////////////////////////////////////////////////////////////////////////////////////
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// STANDARD WALKER METHODS
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////////////////////////////////////////////////////////////////////////////////////
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public void initialize() {
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if ( printBinEndpointsAndExit ) {
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int[] endpoints = DepthOfCoverageStats.calculateBinEndpoints(start,stop,nBins);
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System.out.print("[ ");
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for ( int e : endpoints ) {
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System.out.print(e+" ");
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}
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System.out.println("]");
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System.exit(0);
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}
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if ( getToolkit().getArguments().outFileName == null ) {
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throw new StingException("This walker requires that you specify an output file (-o)");
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}
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}
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public boolean isReduceByInterval() {
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return ( ! omitIntervals );
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}
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public DepthOfCoverageStats reduceInit() {
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List<Set<String>> samplesByReaders = getToolkit().getSamplesByReaders();
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DepthOfCoverageStats stats = new DepthOfCoverageStats(DepthOfCoverageStats.calculateBinEndpoints(start,stop,nBins));
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@ -67,9 +101,19 @@ public class CoverageStatistics extends LocusWalker<Map<String,Integer>, DepthOf
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}
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}
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if ( perLocusStatisticsFile != null ) {
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if ( ! omitLocusTable ) {
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stats.initializeLocusCounts();
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}
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if ( ! omitDepthOutput ) { // print header
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out.printf("%s\t%s\t%s","Locus","Total_Depth","Average_Depth");
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for ( String s : stats.getAllSamples()) {
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out.printf("\t%s_%s","Depth_for",s);
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}
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out.printf("%n");
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} else {
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out.printf("Per-Locus Depth of Coverage output was omitted");
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}
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return stats;
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}
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@ -90,12 +134,21 @@ public class CoverageStatistics extends LocusWalker<Map<String,Integer>, DepthOf
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depthBySample.put(sample,properDepth);
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}
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if ( ! omitDepthOutput ) {
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out.printf("%s",ref.getLocus()); // yes: print locus in map, and the rest of the info in reduce (for eventual cumulatives)
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}
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return depthBySample;
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}
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public DepthOfCoverageStats reduce(Map<String,Integer> thisMap, DepthOfCoverageStats prevReduce) {
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prevReduce.update(thisMap);
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if ( ! omitDepthOutput ) {
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printDepths(out,thisMap, prevReduce.getAllSamples());
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// this is an additional iteration through thisMap, plus dealing with IO, so should be much slower without
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// turning on omit
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}
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return prevReduce;
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}
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@ -104,10 +157,185 @@ public class CoverageStatistics extends LocusWalker<Map<String,Integer>, DepthOf
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return left;
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}
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////////////////////////////////////////////////////////////////////////////////////
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// INTERVAL ON TRAVERSAL DONE
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////////////////////////////////////////////////////////////////////////////////////
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public void onTraversalDone( List<Pair<GenomeLoc,DepthOfCoverageStats>> statsByInterval ) {
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File intervalStatisticsFile = deriveFromStream("interval_statistics");
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File intervalSummaryFile = deriveFromStream("interval_summary");
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DepthOfCoverageStats mergedStats = printIntervalStatsAndMerge(statsByInterval,intervalSummaryFile, intervalStatisticsFile);
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this.onTraversalDone(mergedStats);
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}
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private DepthOfCoverageStats printIntervalStatsAndMerge(List<Pair<GenomeLoc,DepthOfCoverageStats>> statsByInterval, File summaryFile, File statsFile) {
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PrintStream summaryOut;
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PrintStream statsOut;
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try {
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summaryOut = summaryFile == null ? out : new PrintStream(summaryFile);
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statsOut = statsFile == null ? out : new PrintStream(statsFile);
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} catch ( IOException e ) {
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throw new StingException("Unable to open interval file on reduce", e);
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}
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Pair<GenomeLoc,DepthOfCoverageStats> firstPair = statsByInterval.remove(0);
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DepthOfCoverageStats firstStats = firstPair.second;
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StringBuilder summaryHeader = new StringBuilder();
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summaryHeader.append("Target");
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summaryHeader.append("\ttotal_coverage");
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summaryHeader.append("\taverage_coverage");
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for ( String s : firstStats.getAllSamples() ) {
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summaryHeader.append("\t");
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summaryHeader.append(s);
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summaryHeader.append("_mean_cvg");
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summaryHeader.append("\t");
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summaryHeader.append(s);
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summaryHeader.append("_granular_Q1");
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summaryHeader.append("\t");
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summaryHeader.append(s);
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summaryHeader.append("_granular_median");
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summaryHeader.append("\t");
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summaryHeader.append(s);
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summaryHeader.append("_granular_Q3");
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}
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summaryOut.printf("%s%n",summaryHeader);
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int[][] nTargetsByAvgCvgBySample = new int[firstStats.getHistograms().size()][firstStats.getEndpoints().length+1];
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for ( int i = 0; i < nTargetsByAvgCvgBySample.length; i ++ ) {
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for ( int b = 0; b < nTargetsByAvgCvgBySample[0].length; b++) {
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nTargetsByAvgCvgBySample[i][b] = 0;
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}
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}
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printTargetSummary(summaryOut,firstPair);
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updateTargetTable(nTargetsByAvgCvgBySample,firstStats);
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for ( Pair<GenomeLoc,DepthOfCoverageStats> targetStats : statsByInterval ) {
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printTargetSummary(summaryOut,targetStats);
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updateTargetTable(nTargetsByAvgCvgBySample,targetStats.second);
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firstStats = this.treeReduce(firstStats,targetStats.second);
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}
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printIntervalTable(statsOut,nTargetsByAvgCvgBySample,firstStats.getEndpoints());
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summaryOut.close();
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statsOut.close();
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return firstStats;
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}
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private void printTargetSummary(PrintStream output, Pair<GenomeLoc,DepthOfCoverageStats> intervalStats) {
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DepthOfCoverageStats stats = intervalStats.second;
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int[] bins = stats.getEndpoints();
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StringBuilder targetSummary = new StringBuilder();
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targetSummary.append(intervalStats.first.toString());
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targetSummary.append("\t");
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targetSummary.append(stats.getTotalLoci()*stats.getMeans().get(DepthOfCoverageStats.ALL_SAMPLES));
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// TODO: change this to use the raw counts directly rather than re-estimating from mean*nloci
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targetSummary.append("\t");
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targetSummary.append(stats.getMeans().get(DepthOfCoverageStats.ALL_SAMPLES));
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for ( String s : stats.getAllSamples() ) {
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targetSummary.append("\t");
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targetSummary.append(String.format("%.2f", stats.getMeans().get(s)));
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targetSummary.append("\t");
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int median = getQuantile(stats.getHistograms().get(s),0.5);
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int q1 = getQuantile(stats.getHistograms().get(s),0.25);
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int q3 = getQuantile(stats.getHistograms().get(s),0.75);
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targetSummary.append(bins[q1]);
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targetSummary.append("\t");
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targetSummary.append(bins[median]);
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targetSummary.append("\t");
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targetSummary.append(bins[q3]);
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}
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output.printf("%s%n", targetSummary);
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}
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private void printIntervalTable(PrintStream output, int[][] intervalTable, int[] cutoffs) {
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output.printf("\tdepth>=%d",0);
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for ( int col = 0; col < intervalTable[0].length-1; col ++ ) {
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output.printf("\tdepth>=%d",cutoffs[col]);
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}
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output.printf(String.format("%n"));
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for ( int row = 0; row < intervalTable.length; row ++ ) {
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output.printf("At_least_%d_samples",row+1);
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for ( int col = 0; col < intervalTable[0].length; col++ ) {
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output.printf("\t%d",intervalTable[row][col]);
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}
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output.printf(String.format("%n"));
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}
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}
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/*
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* @updateTargetTable
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* The idea is to have counts for how many *targets* have at least K samples with
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* median coverage of at least X.
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* To that end:
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* Iterate over the samples the DOCS object, determine how many there are with
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* median coverage > leftEnds[0]; how many with median coverage > leftEnds[1]
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* and so on. Then this target has at least N, N-1, N-2, ... 1, 0 samples covered
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* to leftEnds[0] and at least M,M-1,M-2,...1,0 samples covered to leftEnds[1]
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* and so on.
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*/
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private void updateTargetTable(int[][] table, DepthOfCoverageStats stats) {
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int[] cutoffs = stats.getEndpoints();
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int[] countsOfMediansAboveCutoffs = new int[cutoffs.length+1]; // 0 bin to catch everything
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for ( int i = 0; i < countsOfMediansAboveCutoffs.length; i ++) {
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countsOfMediansAboveCutoffs[i]=0;
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}
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for ( String s : stats.getAllSamples() ) {
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int medianBin = getQuantile(stats.getHistograms().get(s),0.5);
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for ( int i = 0; i <= medianBin; i ++) {
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countsOfMediansAboveCutoffs[i]++;
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}
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}
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for ( int medianBin = 0; medianBin < countsOfMediansAboveCutoffs.length; medianBin++) {
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for ( ; countsOfMediansAboveCutoffs[medianBin] > 0; countsOfMediansAboveCutoffs[medianBin]-- ) {
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table[countsOfMediansAboveCutoffs[medianBin]-1][medianBin]++;
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// the -1 is due to counts being 1-based and offsets being 0-based
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}
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}
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}
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////////////////////////////////////////////////////////////////////////////////////
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// FINAL ON TRAVERSAL DONE
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////////////////////////////////////////////////////////////////////////////////////
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public void onTraversalDone(DepthOfCoverageStats coverageProfiles) {
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printSummary(out,summaryStatisticsFile,coverageProfiles);
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printPerSample(out,perSampleStatisticsFile,coverageProfiles);
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printPerLocus(perLocusStatisticsFile,coverageProfiles);
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///////////////////
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// OPTIONAL OUTPUTS
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//////////////////
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if ( ! omitSampleSummary ) {
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File summaryStatisticsFile = deriveFromStream("summary_statistics");
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File perSampleStatisticsFile = deriveFromStream("sample_statistics");
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printSummary(out,summaryStatisticsFile,coverageProfiles);
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printPerSample(out,perSampleStatisticsFile,coverageProfiles);
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}
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if ( ! omitLocusTable ) {
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File perLocusStatisticsFile = deriveFromStream("locus_statistics");
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printPerLocus(perLocusStatisticsFile,coverageProfiles);
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}
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}
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public File deriveFromStream(String append) {
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String name = getToolkit().getArguments().outFileName;
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if ( name.contains("stdout") || name.contains("Stdout") || name.contains("STDOUT")) {
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return null;
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} else {
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return new File(name+"."+append);
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}
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}
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////////////////////////////////////////////////////////////////////////////////////
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@ -194,9 +422,14 @@ public class CoverageStatistics extends LocusWalker<Map<String,Integer>, DepthOf
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int[] leftEnds = stats.getEndpoints();
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for ( String s : histograms.keySet() ) {
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int median = getQuantile(histograms.get(s),0.5);
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int q1 = getQuantile(histograms.get(s),0.25);
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int q3 = getQuantile(histograms.get(s),0.75);
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int[] histogram = histograms.get(s);
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int median = getQuantile(histogram,0.5);
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int q1 = getQuantile(histogram,0.25);
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int q3 = getQuantile(histogram,0.75);
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// if any of these are larger than the higest bin, put the median as in the largest bin
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median = median == histogram.length-1 ? histogram.length-2 : median;
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q1 = q1 == histogram.length-1 ? histogram.length-2 : q1;
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q3 = q3 == histogram.length-1 ? histogram.length-2 : q3;
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output.printf("%s\t%.2f\t%d\t%d\t%d%n",s,means.get(s),leftEnds[q3],leftEnds[median],leftEnds[q1]);
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}
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@ -217,22 +450,47 @@ public class CoverageStatistics extends LocusWalker<Map<String,Integer>, DepthOf
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bin++;
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}
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bin = bin == histogram.length-1 ? histogram.length-2 : bin;
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return bin;
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}
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private void printDepths(PrintStream stream, Map<String,Integer> depthBySample, Set<String> allSamples) {
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// get the depths per sample and build up the output string while tabulating total and average coverage
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StringBuilder perSampleOutput = new StringBuilder();
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int tDepth = 0;
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for ( String s : allSamples ) {
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perSampleOutput.append("\t");
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int dp = depthBySample.keySet().contains(s) ? depthBySample.get(s) : 0;
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perSampleOutput.append(dp);
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tDepth += dp;
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}
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// remember -- genome locus was printed in map()
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stream.printf("\t%d\t%.2f\t%s%n",tDepth,( (double) tDepth/ (double) allSamples.size()), perSampleOutput);
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}
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}
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class DepthOfCoverageStats {
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////////////////////////////////////////////////////////////////////////////////////
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// STATIC DATA
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////////////////////////////////////////////////////////////////////////////////////
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public static String ALL_SAMPLES = "ALL_COMBINED_SAMPLES";
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// STANDARD (constantly updated) DATA
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////////////////////////////////////////////////////////////////////////////////////
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// STANDARD DATA
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////////////////////////////////////////////////////////////////////////////////////
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private Map<String,int[]> granularHistogramBySample; // holds the counts per each bin
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private Map<String,Double> meanCoverages; // holds mean coverage per sample
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private int[] binLeftEndpoints; // describes the left endpoint for each bin
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private int[][] locusCoverageCounts; // holds counts of number of bases with >=X samples at >=Y coverage
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private boolean tabulateLocusCounts = false;
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private int nLoci; // number of loci seen
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// TEMPORARY DATA (not worth re-instantiating every time)
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////////////////////////////////////////////////////////////////////////////////////
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// TEMPORARY DATA ( not worth re-instantiating )
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////////////////////////////////////////////////////////////////////////////////////
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private int[] locusHistogram; // holds a histogram for each locus; reset after each update() call
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private int totalDepth; // holds the total depth of coverage for each locus; reset after each update() call
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@ -441,5 +699,9 @@ class DepthOfCoverageStats {
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public int getTotalLoci() {
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return nLoci;
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}
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public Set<String> getAllSamples() {
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return granularHistogramBySample.keySet();
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}
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}
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@ -0,0 +1,39 @@
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package org.broadinstitute.sting.oneoffprojects.walkers;
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||||
|
||||
import org.broadinstitute.sting.WalkerTest;
|
||||
import org.junit.Test;
|
||||
|
||||
import java.util.Arrays;
|
||||
|
||||
/**
|
||||
* IF THERE IS NO JAVADOC RIGHT HERE, YELL AT chartl
|
||||
*
|
||||
* @Author chartl
|
||||
* @Date Feb 25, 2010
|
||||
*/
|
||||
public class CoverageStatisticsIntegrationTest extends WalkerTest {
|
||||
|
||||
private boolean RUN_TESTS = false;
|
||||
private String root = "-T CoverageStatistics ";
|
||||
|
||||
private String buildRootCmd(String ref, String bam, String interval) {
|
||||
return root + "-R "+ref+" -I "+bam+" -L "+interval+" -o %s";
|
||||
}
|
||||
|
||||
private void execute(String name, WalkerTestSpec spec) {
|
||||
if ( RUN_TESTS ) {
|
||||
executeTest(name,spec);
|
||||
}
|
||||
}
|
||||
|
||||
@Test
|
||||
public void testBaseOutputNoFiltering() {
|
||||
String bam_file = "/humgen/gsa-hphome1/chartl/projects/depthOfCoverage/testFiles/bams/Ciliopathies_1_88534_3_samples.bam";
|
||||
String interval_list = "chr1:855534";
|
||||
String reference = "/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta";
|
||||
String cmd = buildRootCmd(reference,bam_file,interval_list) + " -mmq 0 -mbq 0 -omitSampleSummary -omitIntervals -omitLocus";
|
||||
String expected = "2aee1dbcb69bf1e874d56cd23336afa8";
|
||||
WalkerTestSpec spec = new WalkerTestSpec(cmd,1, Arrays.asList(expected));
|
||||
execute("testBaseOutputNoFiltering",spec);
|
||||
}
|
||||
}
|
||||
Loading…
Reference in New Issue