And now the UnifiedGenotyper can officially annotate genotype (FORMAT) fields too.
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@3039 348d0f76-0448-11de-a6fe-93d51630548a
This commit is contained in:
parent
e757f6f078
commit
03480c955c
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@ -220,7 +220,7 @@ public class VariantContextAdaptors {
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return toVCF(vc, vcfRefBase, null, true);
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return toVCF(vc, vcfRefBase, null, true);
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}
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}
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public static VCFRecord toVCF(VariantContext vc, char vcfRefBase, List<String> vcfGenotypeAttributeKeys, boolean filtersWereAppliedToContext) {
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public static VCFRecord toVCF(VariantContext vc, char vcfRefBase, List<String> allowedGenotypeAttributeKeys, boolean filtersWereAppliedToContext) {
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// deal with the reference
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// deal with the reference
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String referenceBases = new String(vc.getReference().getBases());
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String referenceBases = new String(vc.getReference().getBases());
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@ -277,11 +277,12 @@ public class VariantContextAdaptors {
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alleleMap.put(a, encoding);
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alleleMap.put(a, encoding);
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}
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}
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if ( vcfGenotypeAttributeKeys == null ) {
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List<String> vcfGenotypeAttributeKeys = new ArrayList<String>();
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vcfGenotypeAttributeKeys = new ArrayList<String>();
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if ( vc.hasGenotypes() ) {
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if ( vc.hasGenotypes() ) {
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vcfGenotypeAttributeKeys.add(VCFGenotypeRecord.GENOTYPE_KEY);
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vcfGenotypeAttributeKeys.add(VCFGenotypeRecord.GENOTYPE_KEY);
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for ( String key : calcVCFGenotypeKeys(vc) ) {
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vcfGenotypeAttributeKeys.addAll(calcVCFGenotypeKeys(vc));
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if ( allowedGenotypeAttributeKeys == null || allowedGenotypeAttributeKeys.contains(key) )
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vcfGenotypeAttributeKeys.add(key);
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}
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}
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}
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}
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String genotypeFormatString = Utils.join(VCFRecord.GENOTYPE_FIELD_SEPERATOR, vcfGenotypeAttributeKeys);
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String genotypeFormatString = Utils.join(VCFRecord.GENOTYPE_FIELD_SEPERATOR, vcfGenotypeAttributeKeys);
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@ -49,5 +49,5 @@ public class DepthPerAlleleBySample implements GenotypeAnnotation, ExperimentalA
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public String getKeyName() { return "AD"; }
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public String getKeyName() { return "AD"; }
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public VCFFormatHeaderLine getDescription() { return new VCFFormatHeaderLine(getKeyName(), 1, VCFFormatHeaderLine.INFO_TYPE.Integer, "Depth in genotypes for each ALT allele, in the same order as listed"); }
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public VCFFormatHeaderLine getDescription() { return new VCFFormatHeaderLine(getKeyName(), 1, VCFFormatHeaderLine.FORMAT_TYPE.Integer, "Depth in genotypes for each ALT allele, in the same order as listed"); }
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}
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}
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@ -119,6 +119,7 @@ public class DiploidGenotypeCalculationModel extends JointEstimateGenotypeCalcul
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CalledGenotype cg = new CalledGenotype(sample, myAlleles, AFbasedGenotype.second);
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CalledGenotype cg = new CalledGenotype(sample, myAlleles, AFbasedGenotype.second);
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cg.setLikelihoods(GLs.get(sample).getLikelihoods());
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cg.setLikelihoods(GLs.get(sample).getLikelihoods());
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cg.setReadBackedPileup(contexts.get(sample).getContext(StratifiedAlignmentContext.StratifiedContextType.COMPLETE).getBasePileup());
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cg.setReadBackedPileup(contexts.get(sample).getContext(StratifiedAlignmentContext.StratifiedContextType.COMPLETE).getBasePileup());
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cg.putAttribute(VCFGenotypeRecord.DEPTH_KEY, contexts.get(sample).getContext(StratifiedAlignmentContext.StratifiedContextType.COMPLETE).size());
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double[] posteriors = GLs.get(sample).getPosteriors();
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double[] posteriors = GLs.get(sample).getPosteriors();
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cg.setPosteriors(posteriors);
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cg.setPosteriors(posteriors);
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@ -12,15 +12,15 @@ import org.broadinstitute.sting.utils.Utils;
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*/
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*/
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public class VCFFormatHeaderLine extends VCFHeaderLine {
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public class VCFFormatHeaderLine extends VCFHeaderLine {
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// the info field types
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// the format field types
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public enum INFO_TYPE {
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public enum FORMAT_TYPE {
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Integer, Float, String
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Integer, Float, String
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}
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}
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private String mName;
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private String mName;
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private int mCount;
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private int mCount;
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private String mDescription;
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private String mDescription;
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private INFO_TYPE mType;
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private FORMAT_TYPE mType;
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/**
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/**
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@ -31,7 +31,7 @@ public class VCFFormatHeaderLine extends VCFHeaderLine {
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* @param type the type for this header line
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* @param type the type for this header line
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* @param description the description for this header line
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* @param description the description for this header line
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*/
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*/
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public VCFFormatHeaderLine(String name, int count, INFO_TYPE type, String description) {
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public VCFFormatHeaderLine(String name, int count, FORMAT_TYPE type, String description) {
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super("FORMAT", "");
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super("FORMAT", "");
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mName = name;
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mName = name;
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mCount = count;
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mCount = count;
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@ -52,7 +52,7 @@ public class VCFFormatHeaderLine extends VCFHeaderLine {
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mName = pieces[0];
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mName = pieces[0];
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mCount = Integer.valueOf(pieces[1]);
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mCount = Integer.valueOf(pieces[1]);
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mType = INFO_TYPE.valueOf(pieces[2]);
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mType = FORMAT_TYPE.valueOf(pieces[2]);
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mDescription = Utils.trim(pieces[3], '"');
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mDescription = Utils.trim(pieces[3], '"');
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// just in case there were some commas in the description
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// just in case there were some commas in the description
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for (int i = 4; i < pieces.length; i++)
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for (int i = 4; i < pieces.length; i++)
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@ -63,6 +63,11 @@ public class VCFFormatHeaderLine extends VCFHeaderLine {
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return String.format("FORMAT=%s,%d,%s,\"%s\"", mName, mCount, mType.toString(), mDescription);
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return String.format("FORMAT=%s,%d,%s,\"%s\"", mName, mCount, mType.toString(), mDescription);
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}
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}
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public String getName() { return mName; }
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public int getCount() { return mCount; }
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public String getDescription() { return mDescription; }
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public FORMAT_TYPE getType() { return mType; }
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public boolean equals(Object o) {
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public boolean equals(Object o) {
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if ( !(o instanceof VCFFormatHeaderLine) )
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if ( !(o instanceof VCFFormatHeaderLine) )
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return false;
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return false;
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@ -333,10 +333,10 @@ public class VCFGenotypeRecord {
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public static Set<VCFFormatHeaderLine> getSupportedHeaderStrings() {
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public static Set<VCFFormatHeaderLine> getSupportedHeaderStrings() {
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Set<VCFFormatHeaderLine> result = new HashSet<VCFFormatHeaderLine>();
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Set<VCFFormatHeaderLine> result = new HashSet<VCFFormatHeaderLine>();
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result.add(new VCFFormatHeaderLine(GENOTYPE_KEY, 1, VCFFormatHeaderLine.INFO_TYPE.String, "Genotype"));
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result.add(new VCFFormatHeaderLine(GENOTYPE_KEY, 1, VCFFormatHeaderLine.FORMAT_TYPE.String, "Genotype"));
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result.add(new VCFFormatHeaderLine(GENOTYPE_QUALITY_KEY, 1, VCFFormatHeaderLine.INFO_TYPE.Float, "Genotype Quality"));
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result.add(new VCFFormatHeaderLine(GENOTYPE_QUALITY_KEY, 1, VCFFormatHeaderLine.FORMAT_TYPE.Float, "Genotype Quality"));
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result.add(new VCFFormatHeaderLine(DEPTH_KEY, 1, VCFFormatHeaderLine.INFO_TYPE.Integer, "Read Depth (only filtered reads used for calling)"));
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result.add(new VCFFormatHeaderLine(DEPTH_KEY, 1, VCFFormatHeaderLine.FORMAT_TYPE.Integer, "Read Depth (only filtered reads used for calling)"));
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result.add(new VCFFormatHeaderLine(GENOTYPE_POSTERIORS_TRIPLET_KEY, 3, VCFFormatHeaderLine.INFO_TYPE.Float, "Log-scaled likelihoods for AA,AB,BB genotypes where A=ref and B=alt; not applicable if site is not biallelic"));
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result.add(new VCFFormatHeaderLine(GENOTYPE_POSTERIORS_TRIPLET_KEY, 3, VCFFormatHeaderLine.FORMAT_TYPE.Float, "Log-scaled likelihoods for AA,AB,BB genotypes where A=ref and B=alt; not applicable if site is not biallelic"));
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//result.add(new VCFFormatHeaderLine(HAPLOTYPE_QUALITY_KEY, 1, VCFFormatHeaderLine.INFO_TYPE.Integer, "Haplotype Quality"));
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//result.add(new VCFFormatHeaderLine(HAPLOTYPE_QUALITY_KEY, 1, VCFFormatHeaderLine.INFO_TYPE.Integer, "Haplotype Quality"));
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return result;
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return result;
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}
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}
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@ -30,11 +30,8 @@ public class VCFGenotypeWriterAdapter implements VCFGenotypeWriter {
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// validation stringency
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// validation stringency
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private VALIDATION_STRINGENCY validationStringency = VALIDATION_STRINGENCY.STRICT;
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private VALIDATION_STRINGENCY validationStringency = VALIDATION_STRINGENCY.STRICT;
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// standard genotype format strings
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// allowed genotype format strings
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private static String[] standardGenotypeFormatStrings = { VCFGenotypeRecord.GENOTYPE_KEY,
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private List<String> allowedGenotypeFormatStrings;
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VCFGenotypeRecord.DEPTH_KEY,
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VCFGenotypeRecord.GENOTYPE_QUALITY_KEY,
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VCFGenotypeRecord.GENOTYPE_POSTERIORS_TRIPLET_KEY };
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public VCFGenotypeWriterAdapter(File writeTo) {
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public VCFGenotypeWriterAdapter(File writeTo) {
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if (writeTo == null) throw new RuntimeException("VCF output file must not be null");
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if (writeTo == null) throw new RuntimeException("VCF output file must not be null");
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@ -55,14 +52,21 @@ public class VCFGenotypeWriterAdapter implements VCFGenotypeWriter {
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public void writeHeader(Set<String> sampleNames, Set<VCFHeaderLine> headerInfo) {
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public void writeHeader(Set<String> sampleNames, Set<VCFHeaderLine> headerInfo) {
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mSampleNames.addAll(sampleNames);
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mSampleNames.addAll(sampleNames);
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// setup the header fields
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// set up the header fields
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Set<VCFHeaderLine> hInfo = new TreeSet<VCFHeaderLine>();
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Set<VCFHeaderLine> hInfo = new TreeSet<VCFHeaderLine>();
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hInfo.add(new VCFHeaderLine(VCFHeader.FILE_FORMAT_KEY, VCFHeader.VCF_VERSION));
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hInfo.add(new VCFHeaderLine(VCFHeader.FILE_FORMAT_KEY, VCFHeader.VCF_VERSION));
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hInfo.addAll(headerInfo);
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hInfo.addAll(headerInfo);
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// setup the sample names
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// set up the sample names
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mHeader = new VCFHeader(hInfo, mSampleNames);
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mHeader = new VCFHeader(hInfo, mSampleNames);
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mWriter.writeHeader(mHeader);
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mWriter.writeHeader(mHeader);
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// set up the allowed genotype format fields
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allowedGenotypeFormatStrings = new ArrayList<String>();
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for ( VCFHeaderLine field : headerInfo ) {
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if ( field instanceof VCFFormatHeaderLine )
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allowedGenotypeFormatStrings.add(((VCFFormatHeaderLine)field).getName());
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}
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}
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}
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/** finish writing, closing any open files. */
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/** finish writing, closing any open files. */
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@ -79,12 +83,7 @@ public class VCFGenotypeWriterAdapter implements VCFGenotypeWriter {
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if ( mHeader == null )
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if ( mHeader == null )
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throw new IllegalStateException("The VCF Header must be written before records can be added");
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throw new IllegalStateException("The VCF Header must be written before records can be added");
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List<String> formatStrings;
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VCFRecord call = VariantContextAdaptors.toVCF(vc, vc.getReference().toString().charAt(0), allowedGenotypeFormatStrings, false);
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if ( vc.getChromosomeCount() > 0 )
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formatStrings = Arrays.asList(standardGenotypeFormatStrings);
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else
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formatStrings = new ArrayList<String>();
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VCFRecord call = VariantContextAdaptors.toVCF(vc, vc.getReference().toString().charAt(0), formatStrings, false);
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Set<Allele> altAlleles = vc.getAlternateAlleles();
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Set<Allele> altAlleles = vc.getAlternateAlleles();
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StringBuffer altAlleleCountString = new StringBuffer();
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StringBuffer altAlleleCountString = new StringBuffer();
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@ -35,7 +35,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testMultiSamplePilot1Joint() {
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public void testMultiSamplePilot1Joint() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -varout %s -L 1:10,022,000-10,025,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30", 1,
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -varout %s -L 1:10,022,000-10,025,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30", 1,
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Arrays.asList("d8af2cb687aa89d21c5492c98f100b5f"));
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Arrays.asList("2a31f997f9c07b6259cf3cdf2459c74b"));
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executeTest("testMultiSamplePilot1 - Joint Estimate", spec);
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executeTest("testMultiSamplePilot1 - Joint Estimate", spec);
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}
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}
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@ -43,7 +43,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testMultiSamplePilot2Joint() {
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public void testMultiSamplePilot2Joint() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -varout %s -L 20:10,000,000-10,050,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30", 1,
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -varout %s -L 20:10,000,000-10,050,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30", 1,
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Arrays.asList("724bc2b640e111df82b9ebd261ddb5d9"));
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Arrays.asList("2ab8e48cd7a3d0474e187c2af9694628"));
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executeTest("testMultiSamplePilot2 - Joint Estimate", spec);
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executeTest("testMultiSamplePilot2 - Joint Estimate", spec);
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}
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}
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@ -51,7 +51,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testSingleSamplePilot2Joint() {
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public void testSingleSamplePilot2Joint() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -varout %s -L 1:10,000,000-10,100,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30", 1,
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -varout %s -L 1:10,000,000-10,100,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30", 1,
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Arrays.asList("304ec09a459705f5738a9a82b603ae1f"));
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Arrays.asList("ed35f375beb0ac849bfe98daffc1cee2"));
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executeTest("testSingleSamplePilot2 - Joint Estimate", spec);
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executeTest("testSingleSamplePilot2 - Joint Estimate", spec);
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}
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}
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@ -64,7 +64,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testParallelization() {
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public void testParallelization() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -varout %s -L 1:10,000,000-10,400,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30 -nt 4", 1,
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -varout %s -L 1:10,000,000-10,400,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30 -nt 4", 1,
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Arrays.asList("33e9fe3b8c1ed729c22196d5db3e0d11"));
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Arrays.asList("75488092bb229d6345b84d9b793e4e55"));
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executeTest("test parallelization", spec);
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executeTest("test parallelization", spec);
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}
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}
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@ -77,11 +77,11 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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@Test
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@Test
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public void testParameter() {
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public void testParameter() {
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HashMap<String, String> e = new HashMap<String, String>();
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HashMap<String, String> e = new HashMap<String, String>();
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e.put( "-genotype", "fb3ffa0f101cf9f8ffc6892b0acab414" );
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e.put( "-genotype", "02316b8892d439e23d6fbbc65232f921" );
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e.put( "-all_bases", "3888d0856370f9a5b18c078e2caaec2a" );
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e.put( "-all_bases", "bcce54904e4c3352168bbfb39f2b9a2f" );
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e.put( "--min_base_quality_score 26", "66f729d1948dc057486832731278c226" );
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e.put( "--min_base_quality_score 26", "a8a286e61af8a6b9ba72c2eab19573bb" );
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e.put( "--min_mapping_quality_score 26", "80a7fca199b899a3d0bc1293eb7bf7e5" );
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e.put( "--min_mapping_quality_score 26", "c599b0c3a1e42772e9d1f9ff7112d1e4" );
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e.put( "--max_mismatches_in_40bp_window 5", "c6f8846865dcd9021372df917f6c962b" );
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e.put( "--max_mismatches_in_40bp_window 5", "46129c47e7d283d8950e029ed39dc1e8" );
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for ( Map.Entry<String, String> entry : e.entrySet() ) {
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for ( Map.Entry<String, String> entry : e.entrySet() ) {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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@ -95,7 +95,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testConfidence() {
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public void testConfidence() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -varout %s -L 1:10,000,000-10,010,000 -bm empirical -gm JOINT_ESTIMATE -confidence 10 ", 1,
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -varout %s -L 1:10,000,000-10,010,000 -bm empirical -gm JOINT_ESTIMATE -confidence 10 ", 1,
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Arrays.asList("7854c02fcc0c8fcc879f6e35fef2e11f"));
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Arrays.asList("64c8fffc735f72663f27b2257fff5583"));
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executeTest("testConfidence", spec);
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executeTest("testConfidence", spec);
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}
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}
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@ -106,7 +106,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
|
||||||
// --------------------------------------------------------------------------------------------------------------
|
// --------------------------------------------------------------------------------------------------------------
|
||||||
@Test
|
@Test
|
||||||
public void testOtherOutput() {
|
public void testOtherOutput() {
|
||||||
String[] md5s = {"5f3b9abe1b2c30c2ede0007c43e1934c", "8cba0b8752f18fc620b4697840bc7291"};
|
String[] md5s = {"e9d7c27ed63d2e92a17ba44501ab1138", "8cba0b8752f18fc620b4697840bc7291"};
|
||||||
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
|
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
|
||||||
"-T UnifiedGenotyper" +
|
"-T UnifiedGenotyper" +
|
||||||
" -R " + oneKGLocation + "reference/human_b36_both.fasta" +
|
" -R " + oneKGLocation + "reference/human_b36_both.fasta" +
|
||||||
|
|
|
||||||
Loading…
Reference in New Issue