diff --git a/build.xml b/build.xml index e5ad9daf0..1f26e7b7a 100644 --- a/build.xml +++ b/build.xml @@ -163,6 +163,14 @@ + + + + diff --git a/ivy.xml b/ivy.xml index 115f4062a..f90b9a010 100644 --- a/ivy.xml +++ b/ivy.xml @@ -15,10 +15,8 @@ - - - - + + diff --git a/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalyzeCovariates.java b/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalyzeCovariates.java index 7ea515591..1ef452a5c 100755 --- a/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalyzeCovariates.java +++ b/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalyzeCovariates.java @@ -114,7 +114,7 @@ public class AnalyzeCovariates extends CommandLineProgram { private String RECAL_FILE = "output.recal_data.csv"; @Argument(fullName = "output_dir", shortName = "outputDir", doc = "The directory in which to output all the plots and intermediate data files", required = false) private String OUTPUT_DIR = "analyzeCovariates/"; - @Argument(fullName = "path_to_Rscript", shortName = "Rscript", doc = "The path to your implementation of Rscript. For Broad users this is maybe /broad/tools/apps/R-2.6.0/bin/Rscript", required = false) + @Argument(fullName = "path_to_Rscript", shortName = "Rscript", doc = "The path to your implementation of Rscript. For Broad users this is maybe /broad/software/free/Linux/redhat_5_x86_64/pkgs/r_2.12.0/bin/Rscript", required = false) private String PATH_TO_RSCRIPT = "Rscript"; @Argument(fullName = "path_to_resources", shortName = "resources", doc = "Path to resources folder holding the Sting R scripts.", required = false) private String PATH_TO_RESOURCES = "public/R/"; diff --git a/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java b/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java index 5b9ebd99b..972943e26 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java @@ -929,6 +929,14 @@ public class GenomeAnalysisEngine { return readsDataSource.getHeader(reader); } + /** + * Gets the master sequence dictionary for this GATK engine instance + * @return a never-null dictionary listing all of the contigs known to this engine instance + */ + public SAMSequenceDictionary getMasterSequenceDictionary() { + return getReferenceDataSource().getReference().getSequenceDictionary(); + } + /** * Returns data source object encapsulating all essential info and handlers used to traverse * reads; header merger, individual file readers etc can be accessed through the returned data source object. diff --git a/public/java/src/org/broadinstitute/sting/gatk/io/storage/VCFWriterStorage.java b/public/java/src/org/broadinstitute/sting/gatk/io/storage/VCFWriterStorage.java index ebb4cbe66..4ca7b935f 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/io/storage/VCFWriterStorage.java +++ b/public/java/src/org/broadinstitute/sting/gatk/io/storage/VCFWriterStorage.java @@ -46,7 +46,7 @@ public class VCFWriterStorage implements Storage, VCFWriter { else if ( stub.getOutputStream() != null ) { this.file = null; this.stream = stub.getOutputStream(); - writer = new StandardVCFWriter(stream, stub.doNotWriteGenotypes()); + writer = new StandardVCFWriter(stream, stub.getMasterSequenceDictionary(), stub.doNotWriteGenotypes()); } else throw new ReviewedStingException("Unable to create target to which to write; storage was provided with neither a file nor a stream."); @@ -71,7 +71,7 @@ public class VCFWriterStorage implements Storage, VCFWriter { } // The GATK/Tribble can't currently index block-compressed files on the fly. Disable OTF indexing even if the user explicitly asked for it. - return new StandardVCFWriter(file, this.stream, indexOnTheFly && !stub.isCompressed(), stub.doNotWriteGenotypes()); + return new StandardVCFWriter(file, this.stream, stub.getMasterSequenceDictionary(), indexOnTheFly && !stub.isCompressed(), stub.doNotWriteGenotypes()); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterStub.java b/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterStub.java index 936243f9d..82cb43634 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterStub.java +++ b/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterStub.java @@ -25,6 +25,7 @@ package org.broadinstitute.sting.gatk.io.stubs; +import net.sf.samtools.SAMSequenceDictionary; import net.sf.samtools.SAMSequenceRecord; import org.broadinstitute.sting.gatk.CommandLineExecutable; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; @@ -150,6 +151,15 @@ public class VCFWriterStub implements Stub, VCFWriter { return isCompressed; } + /** + * Gets the master sequence dictionary from the engine associated with this stub + * @link GenomeAnalysisEngine.getMasterSequenceDictionary + * @return + */ + public SAMSequenceDictionary getMasterSequenceDictionary() { + return engine.getMasterSequenceDictionary(); + } + /** * Should we tell the VCF writer not to write genotypes? * @return true if the writer should not write genotypes. diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/indexer/RMDIndexer.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/indexer/RMDIndexer.java index 029800aea..9e5a95d10 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/refdata/indexer/RMDIndexer.java +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/indexer/RMDIndexer.java @@ -101,7 +101,7 @@ public class RMDIndexer extends CommandLineProgram { Index index = IndexFactory.createIndex(inputFileSource, codec, approach); // add writing of the sequence dictionary, if supplied - builder.setIndexSequenceDictionary(inputFileSource, index, ref.getSequenceDictionary(), indexFile, false); + builder.validateAndUpdateIndexSequenceDictionary(inputFileSource, index, ref.getSequenceDictionary()); // create the output stream, and write the index LittleEndianOutputStream stream = new LittleEndianOutputStream(new FileOutputStream(indexFile)); diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/IndexDictionaryUtils.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/IndexDictionaryUtils.java new file mode 100644 index 000000000..d133439dc --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/IndexDictionaryUtils.java @@ -0,0 +1,106 @@ +/* + * Copyright (c) 2011, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.refdata.tracks; + +import net.sf.samtools.SAMSequenceDictionary; +import net.sf.samtools.SAMSequenceRecord; +import org.apache.log4j.Logger; +import org.broad.tribble.index.Index; +import org.broadinstitute.sting.gatk.arguments.ValidationExclusion; +import org.broadinstitute.sting.utils.SequenceDictionaryUtils; + +import java.util.LinkedHashSet; +import java.util.Map; +import java.util.Set; +import java.util.TreeSet; + +/** + * Utilities for working with Sequence Dictionaries embedded in tribble indices + * + * @author Your Name + * @since Date created + */ +public class IndexDictionaryUtils { + private final static Logger logger = Logger.getLogger(IndexDictionaryUtils.class); + + // a constant we use for marking sequence dictionary entries in the Tribble index property list + public static final String SequenceDictionaryPropertyPredicate = "DICT:"; + + /** + * get the sequence dictionary from the track, if available. If not, make it from the contig list that is always in the index + * @param index the index file to use + * @return a SAMSequenceDictionary if available, null if unavailable + */ + public static SAMSequenceDictionary getSequenceDictionaryFromProperties(Index index) { + SAMSequenceDictionary dict = new SAMSequenceDictionary(); + for (Map.Entry entry : index.getProperties().entrySet()) { + if (entry.getKey().startsWith(SequenceDictionaryPropertyPredicate)) + dict.addSequence(new SAMSequenceRecord(entry.getKey().substring(SequenceDictionaryPropertyPredicate.length() , entry.getKey().length()), + Integer.valueOf(entry.getValue()))); + } + return dict; + } + + /** + * create the sequence dictionary with the contig list; a backup approach + * @param index the index file to use + * @param dict the sequence dictionary to add contigs to + * @return the filled-in sequence dictionary + */ + static SAMSequenceDictionary createSequenceDictionaryFromContigList(Index index, SAMSequenceDictionary dict) { + LinkedHashSet seqNames = index.getSequenceNames(); + if (seqNames == null) { + return dict; + } + for (String name : seqNames) { + SAMSequenceRecord seq = new SAMSequenceRecord(name, 0); + dict.addSequence(seq); + } + return dict; + } + + public static void setIndexSequenceDictionary(Index index, SAMSequenceDictionary dict) { + for ( SAMSequenceRecord seq : dict.getSequences() ) { + final String contig = IndexDictionaryUtils.SequenceDictionaryPropertyPredicate + seq.getSequenceName(); + final String length = String.valueOf(seq.getSequenceLength()); + index.addProperty(contig,length); + } + } + + public static void validateTrackSequenceDictionary(final String trackName, + final SAMSequenceDictionary trackDict, + final SAMSequenceDictionary referenceDict, + final ValidationExclusion.TYPE validationExclusionType ) { + // if the sequence dictionary is empty (as well as null which means it doesn't have a dictionary), skip validation + if (trackDict == null || trackDict.size() == 0) + logger.info("Track " + trackName + " doesn't have a sequence dictionary built in, skipping dictionary validation"); + else { + Set trackSequences = new TreeSet(); + for (SAMSequenceRecord dictionaryEntry : trackDict.getSequences()) + trackSequences.add(dictionaryEntry.getSequenceName()); + SequenceDictionaryUtils.validateDictionaries(logger, validationExclusionType, trackName, trackDict, "reference", referenceDict); + } + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilder.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilder.java index 06d05912a..3b4558579 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilder.java +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilder.java @@ -25,7 +25,6 @@ package org.broadinstitute.sting.gatk.refdata.tracks; import net.sf.samtools.SAMSequenceDictionary; -import net.sf.samtools.SAMSequenceRecord; import org.apache.log4j.Logger; import org.broad.tribble.FeatureCodec; import org.broad.tribble.FeatureSource; @@ -41,7 +40,6 @@ import org.broadinstitute.sting.gatk.arguments.ValidationExclusion; import org.broadinstitute.sting.gatk.refdata.utils.RMDTriplet; import org.broadinstitute.sting.gatk.refdata.utils.RMDTriplet.RMDStorageType; import org.broadinstitute.sting.utils.GenomeLocParser; -import org.broadinstitute.sting.utils.SequenceDictionaryUtils; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -52,16 +50,11 @@ import org.broadinstitute.sting.utils.instrumentation.Sizeof; import java.io.File; import java.io.FileOutputStream; import java.io.IOException; -import java.util.LinkedHashSet; -import java.util.Map; -import java.util.Set; -import java.util.TreeSet; - /** - * - * @author aaron + * + * @author aaron * ` * Class RMDTrackBuilder * @@ -76,9 +69,6 @@ public class RMDTrackBuilder { // extends PluginManager { private final static Logger logger = Logger.getLogger(RMDTrackBuilder.class); public final static boolean MEASURE_TRIBBLE_QUERY_PERFORMANCE = false; - // a constant we use for marking sequence dictionary entries in the Tribble index property list - public static final String SequenceDictionaryPropertyPredicate = "DICT:"; - // private sequence dictionary we use to set our tracks with private SAMSequenceDictionary dict = null; @@ -210,13 +200,19 @@ public class RMDTrackBuilder { // extends PluginManager { try { logger.info(String.format(" Index for %s has size in bytes %d", inputFile, Sizeof.getObjectGraphSize(index))); } catch (ReviewedStingException e) { } - sequenceDictionary = getSequenceDictionaryFromProperties(index); + sequenceDictionary = IndexDictionaryUtils.getSequenceDictionaryFromProperties(index); // if we don't have a dictionary in the Tribble file, and we've set a dictionary for this builder, set it in the file if they match if (sequenceDictionary.size() == 0 && dict != null) { File indexFile = Tribble.indexFile(inputFile); - setIndexSequenceDictionary(inputFile,index,dict,indexFile,true); - sequenceDictionary = getSequenceDictionaryFromProperties(index); + validateAndUpdateIndexSequenceDictionary(inputFile, index, dict); + try { // re-write the index + writeIndexToDisk(index,indexFile,new FSLockWithShared(indexFile)); + } catch (IOException e) { + logger.warn("Unable to update index with the sequence dictionary for file " + indexFile + "; this will not effect your run of the GATK"); + } + + sequenceDictionary = IndexDictionaryUtils.getSequenceDictionaryFromProperties(index); } if ( MEASURE_TRIBBLE_QUERY_PERFORMANCE ) @@ -363,88 +359,31 @@ public class RMDTrackBuilder { // extends PluginManager { // this can take a while, let them know what we're doing logger.info("Creating Tribble index in memory for file " + inputFile); Index idx = IndexFactory.createIndex(inputFile, codec, IndexFactory.IndexBalanceApproach.FOR_SEEK_TIME); - setIndexSequenceDictionary(inputFile, idx, dict, null, false); + validateAndUpdateIndexSequenceDictionary(inputFile, idx, dict); return idx; } - - // --------------------------------------------------------------------------------------------------------- - // static functions to work with the sequence dictionaries of indexes - // --------------------------------------------------------------------------------------------------------- - - /** - * get the sequence dictionary from the track, if available. If not, make it from the contig list that is always in the index - * @param index the index file to use - * @return a SAMSequenceDictionary if available, null if unavailable - */ - public static SAMSequenceDictionary getSequenceDictionaryFromProperties(Index index) { - SAMSequenceDictionary dict = new SAMSequenceDictionary(); - for (Map.Entry entry : index.getProperties().entrySet()) { - if (entry.getKey().startsWith(SequenceDictionaryPropertyPredicate)) - dict.addSequence(new SAMSequenceRecord(entry.getKey().substring(SequenceDictionaryPropertyPredicate.length() , entry.getKey().length()), - Integer.valueOf(entry.getValue()))); - } - return dict; - } - - /** - * create the sequence dictionary with the contig list; a backup approach - * @param index the index file to use - * @param dict the sequence dictionary to add contigs to - * @return the filled-in sequence dictionary - */ - private static SAMSequenceDictionary createSequenceDictionaryFromContigList(Index index, SAMSequenceDictionary dict) { - LinkedHashSet seqNames = index.getSequenceNames(); - if (seqNames == null) { - return dict; - } - for (String name : seqNames) { - SAMSequenceRecord seq = new SAMSequenceRecord(name, 0); - dict.addSequence(seq); - } - return dict; - } - /** * set the sequence dictionary of the track. This function checks that the contig listing of the underlying file is compatible. * (that each contig in the index is in the sequence dictionary). * @param inputFile for proper error message formatting. * @param dict the sequence dictionary * @param index the index file - * @param indexFile the index file - * @param rewriteIndex should we rewrite the index when we're done? - * */ - public void setIndexSequenceDictionary(File inputFile, Index index, SAMSequenceDictionary dict, File indexFile, boolean rewriteIndex) { - if (dict == null) return; - - SAMSequenceDictionary currentDict = createSequenceDictionaryFromContigList(index, new SAMSequenceDictionary()); - validateTrackSequenceDictionary(inputFile.getAbsolutePath(),currentDict,dict); + public void validateAndUpdateIndexSequenceDictionary(final File inputFile, final Index index, final SAMSequenceDictionary dict) { + if (dict == null) throw new ReviewedStingException("BUG: dict cannot be null"); // check that every contig in the RMD contig list is at least in the sequence dictionary we're being asked to set - for (SAMSequenceRecord seq : currentDict.getSequences()) { - if (dict.getSequence(seq.getSequenceName()) == null) - continue; - index.addProperty(SequenceDictionaryPropertyPredicate + dict.getSequence(seq.getSequenceName()).getSequenceName(), String.valueOf(dict.getSequence(seq.getSequenceName()).getSequenceLength())); - } - // re-write the index - if (rewriteIndex) try { - writeIndexToDisk(index,indexFile,new FSLockWithShared(indexFile)); - } catch (IOException e) { - logger.warn("Unable to update index with the sequence dictionary for file " + indexFile + "; this will not effect your run of the GATK"); - } + final SAMSequenceDictionary currentDict = IndexDictionaryUtils.createSequenceDictionaryFromContigList(index, new SAMSequenceDictionary()); + validateTrackSequenceDictionary(inputFile.getAbsolutePath(), currentDict, dict); + + // actually update the dictionary in the index + IndexDictionaryUtils.setIndexSequenceDictionary(index, dict); } - - public void validateTrackSequenceDictionary(String trackName, SAMSequenceDictionary trackDict, SAMSequenceDictionary referenceDict) { - // if the sequence dictionary is empty (as well as null which means it doesn't have a dictionary), skip validation - if (trackDict == null || trackDict.size() == 0) - logger.info("Track " + trackName + " doesn't have a sequence dictionary built in, skipping dictionary validation"); - else { - Set trackSequences = new TreeSet(); - for (SAMSequenceRecord dictionaryEntry : trackDict.getSequences()) - trackSequences.add(dictionaryEntry.getSequenceName()); - SequenceDictionaryUtils.validateDictionaries(logger, validationExclusionType, trackName, trackDict, "reference", referenceDict); - } + public void validateTrackSequenceDictionary(final String trackName, + final SAMSequenceDictionary trackDict, + final SAMSequenceDictionary referenceDict ) { + IndexDictionaryUtils.validateTrackSequenceDictionary(trackName, trackDict, referenceDict, validationExclusionType); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/traversals/TraversalEngine.java b/public/java/src/org/broadinstitute/sting/gatk/traversals/TraversalEngine.java index 27fd173cb..c6321e2ad 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/traversals/TraversalEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/traversals/TraversalEngine.java @@ -358,7 +358,7 @@ public abstract class TraversalEngine,Provide public void printOnTraversalDone() { printProgress(null, null, true); - final double elapsed = timer.getElapsedTime(); + final double elapsed = timer == null ? 0 : timer.getElapsedTime(); ReadMetrics cumulativeMetrics = engine.getCumulativeMetrics(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/Walker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/Walker.java index c88c7c3c4..10261112c 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/Walker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/Walker.java @@ -25,6 +25,7 @@ package org.broadinstitute.sting.gatk.walkers; +import net.sf.samtools.SAMSequenceDictionary; import org.apache.log4j.Logger; import org.broadinstitute.sting.gatk.CommandLineGATK; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; @@ -77,6 +78,15 @@ public abstract class Walker { return toolkit; } + /** + * Gets the master sequence dictionary for this walker + * @link GenomeAnalysisEngine.getMasterSequenceDictionary + * @return + */ + protected SAMSequenceDictionary getMasterSequenceDictionary() { + return getToolkit().getMasterSequenceDictionary(); + } + /** * (conceptual static) method that states whether you want to see reads piling up at a locus * that contain a deletion at the locus. diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SBByDepth.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SBByDepth.java index 180bed24d..d2c4d24ab 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SBByDepth.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SBByDepth.java @@ -26,7 +26,7 @@ public class SBByDepth extends AnnotationByDepth { if (!vc.hasAttribute(VCFConstants.STRAND_BIAS_KEY)) return null; - double sBias = Double.valueOf(vc.getAttributeAsString(VCFConstants.STRAND_BIAS_KEY)); + double sBias = vc.getAttributeAsDouble(VCFConstants.STRAND_BIAS_KEY, -1); final Map genotypes = vc.getGenotypes(); if ( genotypes == null || genotypes.size() == 0 ) diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SnpEff.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SnpEff.java index 4ead77506..8f99c6118 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SnpEff.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SnpEff.java @@ -58,6 +58,13 @@ public class SnpEff extends InfoFieldAnnotation implements ExperimentalAnnotatio // lacking a SnpEff version number in the VCF header: public static final String[] SUPPORTED_SNPEFF_VERSIONS = { "2.0.2" }; public static final String SNPEFF_VCF_HEADER_VERSION_LINE_KEY = "SnpEffVersion"; + public static final String SNPEFF_VCF_HEADER_COMMAND_LINE_KEY = "SnpEffCmd"; + + // When we write the SnpEff version number and command line to the output VCF, we change + // the key name slightly so that the output VCF won't be confused in the future for an + // output file produced by SnpEff directly: + public static final String OUTPUT_VCF_HEADER_VERSION_LINE_KEY = "Original" + SNPEFF_VCF_HEADER_VERSION_LINE_KEY; + public static final String OUTPUT_VCF_HEADER_COMMAND_LINE_KEY = "Original" + SNPEFF_VCF_HEADER_COMMAND_LINE_KEY; // SnpEff aggregates all effects (and effect metadata) together into a single INFO // field annotation with the key EFF: @@ -165,10 +172,26 @@ public class SnpEff extends InfoFieldAnnotation implements ExperimentalAnnotatio UNKNOWN } - - public void initialize ( AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit ) { + public void initialize ( AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit, Set headerLines ) { + // Make sure that we actually have a valid SnpEff rod binding (just in case the user specified -A SnpEff + // without providing a SnpEff rod via --snpEffFile): validateRodBinding(walker.getSnpEffRodBinding()); - checkSnpEffVersion(walker, toolkit); + RodBinding snpEffRodBinding = walker.getSnpEffRodBinding(); + + // Make sure that the SnpEff version number and command-line header lines are present in the VCF header of + // the SnpEff rod, and that the file was generated by a supported version of SnpEff: + VCFHeader snpEffVCFHeader = VCFUtils.getVCFHeadersFromRods(toolkit, Arrays.asList(snpEffRodBinding.getName())).get(snpEffRodBinding.getName()); + VCFHeaderLine snpEffVersionLine = snpEffVCFHeader.getOtherHeaderLine(SNPEFF_VCF_HEADER_VERSION_LINE_KEY); + VCFHeaderLine snpEffCommandLine = snpEffVCFHeader.getOtherHeaderLine(SNPEFF_VCF_HEADER_COMMAND_LINE_KEY); + + checkSnpEffVersion(snpEffVersionLine); + checkSnpEffCommandLine(snpEffCommandLine); + + // If everything looks ok, add the SnpEff version number and command-line header lines to the + // header of the VCF output file, changing the key names so that our output file won't be + // mistaken in the future for a SnpEff output file: + headerLines.add(new VCFHeaderLine(OUTPUT_VCF_HEADER_VERSION_LINE_KEY, snpEffVersionLine.getValue())); + headerLines.add(new VCFHeaderLine(OUTPUT_VCF_HEADER_COMMAND_LINE_KEY, snpEffCommandLine.getValue())); } public Map annotate ( RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc ) { @@ -204,12 +227,7 @@ public class SnpEff extends InfoFieldAnnotation implements ExperimentalAnnotatio } } - private void checkSnpEffVersion ( AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit ) { - RodBinding snpEffRodBinding = walker.getSnpEffRodBinding(); - - VCFHeader snpEffVCFHeader = VCFUtils.getVCFHeadersFromRods(toolkit, Arrays.asList(snpEffRodBinding.getName())).get(snpEffRodBinding.getName()); - VCFHeaderLine snpEffVersionLine = snpEffVCFHeader.getOtherHeaderLine(SNPEFF_VCF_HEADER_VERSION_LINE_KEY); - + private void checkSnpEffVersion ( VCFHeaderLine snpEffVersionLine ) { if ( snpEffVersionLine == null || snpEffVersionLine.getValue() == null || snpEffVersionLine.getValue().trim().length() == 0 ) { throw new UserException("Could not find a " + SNPEFF_VCF_HEADER_VERSION_LINE_KEY + " entry in the VCF header for the SnpEff " + "input file, and so could not verify that the file was generated by a supported version of SnpEff (" + @@ -224,6 +242,14 @@ public class SnpEff extends InfoFieldAnnotation implements ExperimentalAnnotatio } } + private void checkSnpEffCommandLine ( VCFHeaderLine snpEffCommandLine ) { + if ( snpEffCommandLine == null || snpEffCommandLine.getValue() == null || snpEffCommandLine.getValue().trim().length() == 0 ) { + throw new UserException("Could not find a " + SNPEFF_VCF_HEADER_COMMAND_LINE_KEY + " entry in the VCF header for the SnpEff " + + "input file, which should be added by all supported versions of SnpEff (" + + Arrays.toString(SUPPORTED_SNPEFF_VERSIONS) + ")"); + } + } + private boolean isSupportedSnpEffVersion ( String versionString ) { for ( String supportedVersion : SUPPORTED_SNPEFF_VERSIONS ) { if ( supportedVersion.equals(versionString) ) { @@ -248,10 +274,13 @@ public class SnpEff extends InfoFieldAnnotation implements ExperimentalAnnotatio List parsedEffects = new ArrayList(); Object effectFieldValue = snpEffRecord.getAttribute(SNPEFF_INFO_FIELD_KEY); - List individualEffects; + if ( effectFieldValue == null ) { + return parsedEffects; + } // The VCF codec stores multi-valued fields as a List, and single-valued fields as a String. // We can have either in the case of SnpEff, since there may be one or more than one effect in this record. + List individualEffects; if ( effectFieldValue instanceof List ) { individualEffects = (List)effectFieldValue; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotator.java index 27a750f99..3be87da80 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotator.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotator.java @@ -214,8 +214,6 @@ public class VariantAnnotator extends RodWalker implements Ann engine = new VariantAnnotatorEngine(annotationGroupsToUse, annotationsToUse, this, getToolkit()); engine.initializeExpressions(expressionsToUse); - engine.invokeAnnotationInitializationMethods(); - // setup the header fields // note that if any of the definitions conflict with our new ones, then we want to overwrite the old ones Set hInfo = new HashSet(); @@ -225,6 +223,8 @@ public class VariantAnnotator extends RodWalker implements Ann hInfo.add(line); } + engine.invokeAnnotationInitializationMethods(hInfo); + VCFHeader vcfHeader = new VCFHeader(hInfo, samples); vcfWriter.writeHeader(vcfHeader); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java index 68cd07803..e5effe6d8 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java @@ -114,13 +114,13 @@ public class VariantAnnotatorEngine { dbAnnotations.put(rod, rod.getName()); } - public void invokeAnnotationInitializationMethods() { + public void invokeAnnotationInitializationMethods( Set headerLines ) { for ( VariantAnnotatorAnnotation annotation : requestedInfoAnnotations ) { - annotation.initialize(walker, toolkit); + annotation.initialize(walker, toolkit, headerLines); } for ( VariantAnnotatorAnnotation annotation : requestedGenotypeAnnotations ) { - annotation.initialize(walker, toolkit); + annotation.initialize(walker, toolkit, headerLines); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java index 160a3d258..521f89016 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java @@ -25,9 +25,11 @@ package org.broadinstitute.sting.gatk.walkers.annotator.interfaces; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; import java.util.List; +import java.util.Set; @DocumentedGATKFeature(enable = true, groupName = "VariantAnnotator annotations", summary = "VariantAnnotator annotations") public abstract class VariantAnnotatorAnnotation { @@ -35,5 +37,5 @@ public abstract class VariantAnnotatorAnnotation { public abstract List getKeyNames(); // initialization method (optional for subclasses, and therefore non-abstract) - public void initialize ( AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit ) { } + public void initialize ( AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit, Set headerLines ) { } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/DepthOfCoverageWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/DepthOfCoverageWalker.java index 86f97a36c..664c319ab 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/DepthOfCoverageWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/DepthOfCoverageWalker.java @@ -63,9 +63,12 @@ import java.util.*; *

Input

*

* One or more bam files (with proper headers) to be analyzed for coverage statistics - * (Optional) A REFSEQ Rod to aggregate coverage to the gene level *

- * + *

+ *(Optional) A REFSEQ Rod to aggregate coverage to the gene level + *

+ * (for information about creating the REFSEQ Rod, please consult the RefSeqCodec documentation) + *

*

Output

*

* Tables pertaining to different coverage summaries. Suffix on the table files declares the contents: @@ -93,7 +96,7 @@ import java.util.*; *

  * java -Xmx2g -jar GenomeAnalysisTK.jar \
  *   -R ref.fasta \
- *   -T VariantEval \
+ *   -T DepthOfCoverage \
  *   -o file_name_base \
  *   -I input_bams.list
  *   [-geneList refSeq.sorted.txt] \
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java
index 5f6865d04..ec180f0cd 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java
@@ -276,8 +276,11 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable {
         if ( elt.isReducedRead() ) {
             // reduced read representation
             byte qual = elt.getReducedQual();
-            add(obsBase, qual, (byte)0, (byte)0, elt.getReducedCount()); // fast calculation of n identical likelihoods
-            return elt.getReducedCount(); // we added nObs bases here
+            if ( BaseUtils.isRegularBase( elt.getBase() )) {
+                add(obsBase, qual, (byte)0, (byte)0, elt.getReducedCount()); // fast calculation of n identical likelihoods
+                return elt.getReducedCount(); // we added nObs bases here
+            } else // odd bases or deletions => don't use them
+                return 0;
         } else {
             byte qual = qualToUse(elt, ignoreBadBases, capBaseQualsAtMappingQual, minBaseQual);
             return qual > 0 ? add(obsBase, qual, (byte)0, (byte)0, 1) : 0;
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/HaplotypeIndelErrorModel.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/HaplotypeIndelErrorModel.java
index e68aa31e0..232e468f9 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/HaplotypeIndelErrorModel.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/HaplotypeIndelErrorModel.java
@@ -73,7 +73,7 @@ public class HaplotypeIndelErrorModel {
         baseMatchArray = new double[MAX_CACHED_QUAL+1];
         baseMismatchArray = new double[MAX_CACHED_QUAL+1];
         for (int k=1; k <= MAX_CACHED_QUAL; k++) {
-            double baseProb = QualityUtils.qualToProb(k);
+            double baseProb = QualityUtils.qualToProb((byte)k);
 
 
             baseMatchArray[k] =  probToQual(baseProb);
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhasingRead.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhasingRead.java
index a56c9e21e..63fb33295 100644
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhasingRead.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhasingRead.java
@@ -37,7 +37,7 @@ public class PhasingRead extends BaseArray {
     public PhasingRead(int length, int mappingQual) {
         super(length);
 
-        this.mappingProb = new PreciseNonNegativeDouble(QualityUtils.qualToProb(mappingQual));
+        this.mappingProb = new PreciseNonNegativeDouble(QualityUtils.qualToProb((byte)mappingQual));
 
         this.baseProbs = new PreciseNonNegativeDouble[length];
         Arrays.fill(this.baseProbs, null);
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/RefSeqDataParser.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/RefSeqDataParser.java
index 55da1c152..f94140814 100644
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/RefSeqDataParser.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/RefSeqDataParser.java
@@ -44,12 +44,12 @@ public class RefSeqDataParser {
         String nameKeyToUseMultiplePrefix = nameKeyToUse + "_";
 
         Map entriesToNames = new HashMap();
-        Integer numRecords = vc.getAttributeAsIntegerNoException(NUM_RECORDS_KEY);
-        if (numRecords != null) {
+        int numRecords = vc.getAttributeAsInt(NUM_RECORDS_KEY, -1);
+        if (numRecords != -1) {
             boolean done = false;
 
             if (numRecords == 1) { // Check if perhaps the single record doesn't end with "_1":
-                String name = vc.getAttributeAsStringNoException(nameKeyToUse);
+                String name = vc.getAttributeAsString(nameKeyToUse, null);
                 if (name != null) {
                     entriesToNames.put(nameKeyToUse, name);
                     done = true;
@@ -59,14 +59,14 @@ public class RefSeqDataParser {
             if (!done) {
                 for (int i = 1; i <= numRecords; i++) {
                     String key = nameKeyToUseMultiplePrefix + i;
-                    String name = vc.getAttributeAsStringNoException(key);
+                    String name = vc.getAttributeAsString(key, null);
                     if (name != null)
                         entriesToNames.put(key, name);
                 }
             }
         }
         else { // no entry with the # of records:
-            String name = vc.getAttributeAsStringNoException(nameKeyToUse);
+            String name = vc.getAttributeAsString(nameKeyToUse, null);
             if (name != null) {
                 entriesToNames.put(nameKeyToUse, name);
             }
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/CountVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/CountVariants.java
index 2913c97a6..72058ba7b 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/CountVariants.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/CountVariants.java
@@ -110,12 +110,12 @@ public class CountVariants extends VariantEvaluator implements StandardEval {
                 case SNP:
                     nVariantLoci++;
                     nSNPs++;
-                    if (vc1.getAttributeAsBoolean("ISSINGLETON")) nSingletons++;
+                    if (vc1.getAttributeAsBoolean("ISSINGLETON", false)) nSingletons++;
                     break;
                 case MNP:
                     nVariantLoci++;
                     nMNPs++;
-                    if (vc1.getAttributeAsBoolean("ISSINGLETON")) nSingletons++;
+                    if (vc1.getAttributeAsBoolean("ISSINGLETON", false)) nSingletons++;
                     break;
                 case INDEL:
                     nVariantLoci++;
@@ -137,7 +137,7 @@ public class CountVariants extends VariantEvaluator implements StandardEval {
 
         String refStr = vc1.getReference().getBaseString().toUpperCase();
 
-        String aaStr = vc1.hasAttribute("ANCESTRALALLELE") ? vc1.getAttributeAsString("ANCESTRALALLELE").toUpperCase() : null;
+        String aaStr = vc1.hasAttribute("ANCESTRALALLELE") ? vc1.getAttributeAsString("ANCESTRALALLELE", null).toUpperCase() : null;
 //        if (aaStr.equals(".")) {
 //            aaStr = refStr;
 //        }
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/GenotypePhasingEvaluator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/GenotypePhasingEvaluator.java
index a476a2680..e69dbfb28 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/GenotypePhasingEvaluator.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/GenotypePhasingEvaluator.java
@@ -219,7 +219,8 @@ public class GenotypePhasingEvaluator extends VariantEvaluator {
     }
 
     public static Double getPQ(Genotype gt) {
-        return gt.getAttributeAsDoubleNoException(ReadBackedPhasingWalker.PQ_KEY);
+        Double d = gt.getAttributeAsDouble(ReadBackedPhasingWalker.PQ_KEY, -1);
+        return d == -1 ? null : d;
     }
 
     public static boolean topMatchesTop(AllelePair b1, AllelePair b2) {
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/SimpleMetricsByAC.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/SimpleMetricsByAC.java
index 203c15a85..2d0163206 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/SimpleMetricsByAC.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/SimpleMetricsByAC.java
@@ -120,7 +120,7 @@ public class SimpleMetricsByAC extends VariantEvaluator implements StandardEval
             if ( eval.hasGenotypes() )
                 ac = eval.getChromosomeCount(eval.getAlternateAllele(0));
             else if ( eval.hasAttribute("AC") ) {
-                ac = Integer.valueOf(eval.getAttributeAsString("AC"));
+                ac = eval.getAttributeAsInt("AC", -1);
             }
 
             if ( ac != -1 ) {
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/TiTvVariantEvaluator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/TiTvVariantEvaluator.java
index 1feb37e01..9b6e145e6 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/TiTvVariantEvaluator.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/TiTvVariantEvaluator.java
@@ -49,18 +49,14 @@ public class TiTvVariantEvaluator extends VariantEvaluator implements StandardEv
                 else nTv++;
             }
 
-            String refStr = vc.getReference().getBaseString().toUpperCase();
-            String aaStr = vc.getAttributeAsString("ANCESTRALALLELE").toUpperCase();
-
-            if (aaStr != null && !aaStr.equalsIgnoreCase("null") && !aaStr.equals(".")) {
-                BaseUtils.BaseSubstitutionType aaSubType = BaseUtils.SNPSubstitutionType(aaStr.getBytes()[0], vc.getAlternateAllele(0).getBases()[0]);
-
-                //System.out.println(refStr + " " + vc.getAttributeAsString("ANCESTRALALLELE").toUpperCase() + " " + aaSubType);
-
-                if (aaSubType == BaseUtils.BaseSubstitutionType.TRANSITION) {
-                    nTiDerived++;
-                } else if (aaSubType == BaseUtils.BaseSubstitutionType.TRANSVERSION) {
-                    nTvDerived++;
+            if (vc.hasAttribute("ANCESTRALALLELE")) {
+                final String aaStr = vc.getAttributeAsString("ANCESTRALALLELE", "null").toUpperCase();
+                if ( ! aaStr.equals(".") ) {
+                    switch ( BaseUtils.SNPSubstitutionType(aaStr.getBytes()[0], vc.getAlternateAllele(0).getBases()[0] ) ) {
+                        case TRANSITION: nTiDerived++; break;
+                        case TRANSVERSION: nTvDerived++; break;
+                        default: break;
+                    }
                 }
             }
         }
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/ValidationReport.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/ValidationReport.java
index 307b4f684..c60586017 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/ValidationReport.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/ValidationReport.java
@@ -131,7 +131,7 @@ public class ValidationReport extends VariantEvaluator implements StandardEval {
 ////                System.out.printf("  ac = %d%n", ac);
             }
             else
-                ac = vc.getAttributeAsInt(VCFConstants.ALLELE_COUNT_KEY);
+                ac = vc.getAttributeAsInt(VCFConstants.ALLELE_COUNT_KEY, 0);
             return ac > 0 ? SiteStatus.POLY : SiteStatus.MONO;
         } else {
             return TREAT_ALL_SITES_IN_EVAL_VCF_AS_CALLED ? SiteStatus.POLY : SiteStatus.NO_CALL; // we can't figure out what to do
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleCount.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleCount.java
index 3cc22cc52..c7bea93b2 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleCount.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleCount.java
@@ -44,7 +44,7 @@ public class AlleleCount extends VariantStratifier {
         if (eval != null) {
             int AC = -1;
             if ( eval.hasAttribute("AC") && eval.getAttribute("AC") instanceof Integer ) {
-                AC = eval.getAttributeAsInt("AC");
+                AC = eval.getAttributeAsInt("AC", 0);
             } else if ( eval.isVariant() ) {
                 for (Allele allele : eval.getAlternateAlleles())
                     AC = Math.max(AC, eval.getChromosomeCount(allele));
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleFrequency.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleFrequency.java
index 3d2dda651..cd2b8e475 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleFrequency.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleFrequency.java
@@ -28,7 +28,7 @@ public class AlleleFrequency extends VariantStratifier {
 
         if (eval != null) {
             try {
-                relevantStates.add(String.format("%.3f", (5.0 * MathUtils.round(eval.getAttributeAsDouble("AF") / 5.0, 3))));
+                relevantStates.add(String.format("%.3f", (5.0 * MathUtils.round(eval.getAttributeAsDouble("AF", 0.0) / 5.0, 3))));
             } catch (Exception e) {
                 return relevantStates;
             }
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/Degeneracy.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/Degeneracy.java
index 3223626c0..91c96e490 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/Degeneracy.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/Degeneracy.java
@@ -90,8 +90,8 @@ public class Degeneracy extends VariantStratifier {
             Integer frame = null;
 
             if (eval.hasAttribute("refseq.functionalClass")) {
-                aa = eval.getAttributeAsString("refseq.variantAA");
-                frame = eval.getAttributeAsInt("refseq.frame");
+                aa = eval.getAttributeAsString("refseq.variantAA", null);
+                frame = eval.getAttributeAsInt("refseq.frame", 0);
             } else if (eval.hasAttribute("refseq.functionalClass_1")) {
                 int annotationId = 1;
                 String key;
@@ -99,7 +99,7 @@ public class Degeneracy extends VariantStratifier {
                 do {
                     key = String.format("refseq.functionalClass_%d", annotationId);
 
-                    String newtype = eval.getAttributeAsString(key);
+                    String newtype = eval.getAttributeAsString(key, null);
 
                     if ( newtype != null &&
                             ( type == null ||
@@ -109,13 +109,13 @@ public class Degeneracy extends VariantStratifier {
                         type = newtype;
 
                         String aakey = String.format("refseq.variantAA_%d", annotationId);
-                        aa = eval.getAttributeAsString(aakey);
+                        aa = eval.getAttributeAsString(aakey, null);
 
                         if (aa != null) {
                             String framekey = String.format("refseq.frame_%d", annotationId);
 
                             if (eval.hasAttribute(framekey)) {
-                                frame = eval.getAttributeAsInt(framekey);
+                                frame = eval.getAttributeAsInt(framekey, 0);
                             }
                         }
                     }
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/FunctionalClass.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/FunctionalClass.java
index 88ffcaaeb..dbe8295ee 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/FunctionalClass.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/FunctionalClass.java
@@ -28,7 +28,7 @@ public class FunctionalClass extends VariantStratifier {
     }
 
 
-    public List getRelevantStates(ReferenceContext ref, RefMetaDataTracker tracker, VariantContext comp, String compName, VariantContext eval, String evalName, String sampleName) {
+public List getRelevantStates(ReferenceContext ref, RefMetaDataTracker tracker, VariantContext comp, String compName, VariantContext eval, String evalName, String sampleName) {
         ArrayList relevantStates = new ArrayList();
 
         relevantStates.add("all");
@@ -38,7 +38,7 @@ public class FunctionalClass extends VariantStratifier {
 
             if (eval.hasAttribute("refseq.functionalClass")) {
                 try {
-                    type = FunctionalType.valueOf(eval.getAttributeAsString("refseq.functionalClass"));
+                    type = FunctionalType.valueOf(eval.getAttributeAsString("refseq.functionalClass", null));
                 } catch ( Exception e ) {} // don't error out if the type isn't supported
             } else if (eval.hasAttribute("refseq.functionalClass_1")) {
                 int annotationId = 1;
@@ -47,7 +47,7 @@ public class FunctionalClass extends VariantStratifier {
                 do {
                     key = String.format("refseq.functionalClass_%d", annotationId);
 
-                    String newtypeStr = eval.getAttributeAsString(key);
+                    String newtypeStr = eval.getAttributeAsString(key, null);
                     if ( newtypeStr != null && !newtypeStr.equalsIgnoreCase("null") ) {
                         try {
                             FunctionalType newType = FunctionalType.valueOf(newtypeStr);
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VQSRCalibrationCurve.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VQSRCalibrationCurve.java
index bc7252ec2..04ba3ff14 100644
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VQSRCalibrationCurve.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VQSRCalibrationCurve.java
@@ -115,7 +115,7 @@ public class VQSRCalibrationCurve {
         if ( vc.isFiltered() )
             return 0.0;
         else if ( vc.hasAttribute(VQSRQualKey) ) {
-            double qual = vc.getAttributeAsDouble(VQSRQualKey);
+            double qual = vc.getAttributeAsDouble(VQSRQualKey, 0.0);
             return probTrueVariant(qual);
         } else {
             throw new UserException.VariantContextMissingRequiredField(VQSRQualKey, vc);
@@ -143,7 +143,7 @@ public class VQSRCalibrationCurve {
             for ( int i = 0; i < log10Likelihoods.length; i++) {
                 double p = Math.pow(10, log10Likelihoods[i]);
                 double q = alpha * p + (1-alpha) * noInfoPr;
-                if ( DEBUG ) System.out.printf("  vqslod = %.2f, p = %.2e, alpha = %.2e, q = %.2e%n", vc.getAttributeAsDouble(VQSRQualKey), p, alpha, q);
+                if ( DEBUG ) System.out.printf("  vqslod = %.2f, p = %.2e, alpha = %.2e, q = %.2e%n", vc.getAttributeAsDouble(VQSRQualKey, 0.0), p, alpha, q);
                 updated[i] = Math.log10(q);
             }
 
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java
index 529d17285..89e702b64 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java
@@ -155,7 +155,7 @@ public class VariantRecalibrator extends RodWalker {
 
 
         final VCFHeader vcfHeader = new VCFHeader(metaData, samples);
-        writer = new StandardVCFWriter(file, false);
+        writer = new StandardVCFWriter(file, getMasterSequenceDictionary(), false);
         writer.writeHeader(vcfHeader);
     }
 
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java
index 1fefd20fc..fa5093839 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java
@@ -75,7 +75,7 @@ public class RandomlySplitVariants extends RodWalker {
         hInfo.addAll(VCFUtils.getHeaderFields(getToolkit(), inputNames));
 
         vcfWriter1.writeHeader(new VCFHeader(hInfo, samples));
-        vcfWriter2 = new StandardVCFWriter(file2, true);
+        vcfWriter2 = new StandardVCFWriter(file2, getMasterSequenceDictionary(), true);
         vcfWriter2.writeHeader(new VCFHeader(hInfo, samples));
     }
 
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java
index e1de06ec0..bf9a3b03e 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java
@@ -574,7 +574,7 @@ public class SelectVariants extends RodWalker {
                         // ok we have a comp VC and we need to match the AF spectrum of inputAFRodName.
                         // We then pick a variant with probablity AF*desiredFraction
                         if ( sub.hasAttribute(VCFConstants.ALLELE_FREQUENCY_KEY) )  {
-                            String afo = sub.getAttributeAsString(VCFConstants.ALLELE_FREQUENCY_KEY);
+                            String afo = sub.getAttributeAsString(VCFConstants.ALLELE_FREQUENCY_KEY, null);
 
                             double af;
                             double afBoost = 1.0;
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java
index bf9ff35de..c44d84136 100755
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java
@@ -192,7 +192,7 @@ public class VariantsToTable extends RodWalker {
             if ( getters.containsKey(field) ) {
                 val = getters.get(field).get(vc);
             } else if ( vc.hasAttribute(field) ) {
-                val = vc.getAttributeAsString(field);
+                val = vc.getAttributeAsString(field, null);
             } else if ( isWildCard(field) ) {
                 Set wildVals = new HashSet();
                 for ( Map.Entry elt : vc.getAttributes().entrySet()) {
diff --git a/public/java/src/org/broadinstitute/sting/utils/QualityUtils.java b/public/java/src/org/broadinstitute/sting/utils/QualityUtils.java
index fad2320fc..19e03a19d 100755
--- a/public/java/src/org/broadinstitute/sting/utils/QualityUtils.java
+++ b/public/java/src/org/broadinstitute/sting/utils/QualityUtils.java
@@ -9,14 +9,17 @@ import net.sf.samtools.SAMUtils;
  * @author Kiran Garimella
  */
 public class QualityUtils {
-
     public final static byte MAX_QUAL_SCORE = SAMUtils.MAX_PHRED_SCORE;
     public final static double MIN_REASONABLE_ERROR = 0.0001;
     public final static byte MAX_REASONABLE_Q_SCORE = 40;
     public final static byte MIN_USABLE_Q_SCORE = 6;
-
     public final static int MAPPING_QUALITY_UNAVAILABLE = 255;
 
+    private static double qualToErrorProbCache[] = new double[256];
+    static {
+        for (int i = 0; i < 256; i++) qualToErrorProbCache[i] = qualToErrorProbRaw((byte)i);
+    }
+
     /**
      * Private constructor.  No instantiating this class!
      */
@@ -33,10 +36,6 @@ public class QualityUtils {
         return 1.0 - qualToErrorProb(qual);
     }
 
-    static public double qualToProb(int qual) {
-        return qualToProb( (double)qual );
-    }
-
     static public double qualToProb(double qual) {
         return 1.0 - Math.pow(10.0, qual/(-10.0));
     }
@@ -48,10 +47,14 @@ public class QualityUtils {
      * @param qual a quality score (0-40)
      * @return a probability (0.0-1.0)
      */
-    static public double qualToErrorProb(byte qual) {
+    static public double qualToErrorProbRaw(byte qual) {
         return Math.pow(10.0, ((double) qual)/-10.0);
     }
 
+    static public double qualToErrorProb(byte qual) {
+        return qualToErrorProbCache[qual];
+    }
+
     /**
      * Convert a probability to a quality score.  Note, this is capped at Q40.
      *
@@ -110,88 +113,4 @@ public class QualityUtils {
         //return (byte) Math.min(qual, maxQual);
         return (byte) Math.max(Math.min(qual, maxQual), 1);
     }
-
-    /**
-     * Compress a base and a probability into a single byte so that it can be output in a SAMRecord's SQ field.
-     * Note: the highest probability this function can encode is 64%, so this function should only never be used on the best base hypothesis.
-     * Another note: the probability encoded here gets rounded to the nearest 1%.
-     *
-     * @param baseIndex the base index
-     * @param prob      the base probability
-     * @return a byte containing the index and the probability
-     */
-    static public byte baseAndProbToCompressedQuality(int baseIndex, double prob) {
-        byte compressedQual = 0;
-
-        compressedQual = (byte) baseIndex;
-
-        byte cprob = (byte) (100.0*prob);
-        byte qualmask = (byte) 252;
-        compressedQual += ((cprob << 2) & qualmask);
-        
-        return compressedQual;
-    }
-
-    /**
-     * From a compressed base, extract the base index (0:A, 1:C, 2:G, 3:T)
-     *
-     * @param compressedQual the compressed quality score, as returned by baseAndProbToCompressedQuality
-     * @return base index
-     */
-    static public int compressedQualityToBaseIndex(byte compressedQual) {
-        return (int) (compressedQual & 0x3);
-    }
-
-    /**
-     * From a compressed base, extract the base probability
-     *
-     * @param compressedQual the compressed quality score, as returned by baseAndProbToCompressedQuality
-     * @return the probability
-     */
-    static public double compressedQualityToProb(byte compressedQual) {
-        // Because java natives are signed, extra care must be taken to avoid
-        // shifting a 1 into the sign bit in the implicit promotion of 2 to an int.
-        int x2 = ((int) compressedQual) & 0xff;
-        x2 = (x2 >>> 2);
-
-        return ((double) x2)/100.0;
-    }
-
-    /**
-     * Return the complement of a compressed quality
-     *
-     * @param compressedQual  the compressed quality score (as returned by baseAndProbToCompressedQuality)
-     * @return the complementary compressed quality
-     */
-    static public byte complementCompressedQuality(byte compressedQual) {
-        int baseIndex = compressedQualityToBaseIndex(compressedQual);
-        double prob = compressedQualityToProb(compressedQual);
-
-        return baseAndProbToCompressedQuality(BaseUtils.complementIndex(baseIndex), prob);
-    }
-
-    /**
-     * Return the reverse complement of a byte array of compressed qualities
-     *
-     * @param compressedQuals  a byte array of compressed quality scores
-     * @return the reverse complement of the byte array
-     */
-    static public byte[] reverseComplementCompressedQualityArray(byte[] compressedQuals) {
-        byte[] rcCompressedQuals = new byte[compressedQuals.length];
-
-        for (int pos = 0; pos < compressedQuals.length; pos++) {
-            rcCompressedQuals[compressedQuals.length - pos - 1] = complementCompressedQuality(compressedQuals[pos]);
-        }
-
-        return rcCompressedQuals;
-    }
-
-    /**
-     * Return the reverse of a byte array of qualities (compressed or otherwise)
-     * @param quals   the array of bytes to be reversed
-     * @return the reverse of the quality array
-     */
-    static public byte[] reverseQualityArray( byte[] quals ) {
-        return Utils.reverse(quals); // no sense in duplicating functionality
-    }
 }
diff --git a/public/java/src/org/broadinstitute/sting/utils/R/RScriptExecutor.java b/public/java/src/org/broadinstitute/sting/utils/R/RScriptExecutor.java
index c0493fe22..58f7942fe 100644
--- a/public/java/src/org/broadinstitute/sting/utils/R/RScriptExecutor.java
+++ b/public/java/src/org/broadinstitute/sting/utils/R/RScriptExecutor.java
@@ -53,7 +53,7 @@ public class RScriptExecutor {
 
     public static class RScriptArgumentCollection {
         @Advanced
-        @Argument(fullName = "path_to_Rscript", shortName = "Rscript", doc = "The path to your implementation of Rscript. For Broad users this is maybe /broad/tools/apps/R-2.6.0/bin/Rscript", required = false)
+        @Argument(fullName = "path_to_Rscript", shortName = "Rscript", doc = "The path to your implementation of Rscript. For Broad users this is maybe /broad/software/free/Linux/redhat_5_x86_64/pkgs/r_2.12.0/bin/Rscript", required = false)
         public String PATH_TO_RSCRIPT = "Rscript";
 
         @Advanced
diff --git a/public/java/src/org/broadinstitute/sting/utils/Utils.java b/public/java/src/org/broadinstitute/sting/utils/Utils.java
index f6edb319f..6ce492c63 100755
--- a/public/java/src/org/broadinstitute/sting/utils/Utils.java
+++ b/public/java/src/org/broadinstitute/sting/utils/Utils.java
@@ -240,22 +240,34 @@ public class Utils {
         return ret.toString();
     }
 
-    //public static String join(String separator, Collection strings) {
-    //    return join( separator, strings.toArray(new String[0]) );
-    //}
-
-    public static  String join(String separator, Collection objects) {
-        if(objects.isEmpty()) {
+    /**
+     * Returns a string of the form elt1.toString() [sep elt2.toString() ... sep elt.toString()] for a collection of
+     * elti objects (note there's no actual space between sep and the elti elements).  Returns
+     * "" if collection is empty.  If collection contains just elt, then returns elt.toString()
+     *
+     * @param separator the string to use to separate objects
+     * @param objects a collection of objects.  the element order is defined by the iterator over objects
+     * @param  the type of the objects
+     * @return a non-null string
+     */
+    public static  String join(final String separator, final Collection objects) {
+        if (objects.isEmpty()) { // fast path for empty collection
             return "";
-        }
-        Iterator iter = objects.iterator();
-        final StringBuilder ret = new StringBuilder(iter.next().toString());
-        while(iter.hasNext()) {
-            ret.append(separator);
-            ret.append(iter.next().toString());
-        }
+        } else {
+            final Iterator iter = objects.iterator();
+            final T first = iter.next();
 
-        return ret.toString();
+            if ( ! iter.hasNext() ) // fast path for singleton collections
+                return first.toString();
+            else { // full path for 2+ collection that actually need a join
+                final StringBuilder ret = new StringBuilder(first.toString());
+                while(iter.hasNext()) {
+                    ret.append(separator);
+                    ret.append(iter.next().toString());
+                }
+                return ret.toString();
+            }
+        }
     }
 
     public static String dupString(char c, int nCopies) {
diff --git a/public/java/src/org/broadinstitute/sting/utils/baq/BAQ.java b/public/java/src/org/broadinstitute/sting/utils/baq/BAQ.java
index ef7cf751e..4f096f86e 100644
--- a/public/java/src/org/broadinstitute/sting/utils/baq/BAQ.java
+++ b/public/java/src/org/broadinstitute/sting/utils/baq/BAQ.java
@@ -5,6 +5,7 @@ import net.sf.picard.reference.ReferenceSequence;
 import net.sf.samtools.CigarElement;
 import net.sf.samtools.CigarOperator;
 import net.sf.samtools.SAMRecord;
+import net.sf.samtools.SAMUtils;
 import org.broadinstitute.sting.utils.collections.Pair;
 import org.broadinstitute.sting.utils.exceptions.ReviewedStingException;
 import org.broadinstitute.sting.utils.exceptions.UserException;
@@ -131,19 +132,18 @@ public class BAQ {
     private final static double EM = 0.33333333333;
     private final static double EI = 0.25;
 
-    private double[][][] EPSILONS = new double[256][256][64];
+    private double[][][] EPSILONS = new double[256][256][SAMUtils.MAX_PHRED_SCORE+1];
 
     private void initializeCachedData() {
         for ( int i = 0; i < 256; i++ )
             for ( int j = 0; j < 256; j++ )
-                for ( int q = 0; q < 64; q++ ) {
-                    double qual = qual2prob[q < minBaseQual ? minBaseQual : q];
+                for ( int q = 0; q <= SAMUtils.MAX_PHRED_SCORE; q++ ) {
                     EPSILONS[i][j][q] = 1.0;
                 }
 
         for ( char b1 : "ACGTacgt".toCharArray() ) {
             for ( char b2 : "ACGTacgt".toCharArray() ) {
-                for ( int q = 0; q < 64; q++ ) {
+                for ( int q = 0; q <= SAMUtils.MAX_PHRED_SCORE; q++ ) {
                     double qual = qual2prob[q < minBaseQual ? minBaseQual : q];
                     double e = Character.toLowerCase(b1) == Character.toLowerCase(b2) ? 1 - qual : qual * EM;
                     EPSILONS[(byte)b1][(byte)b2][q] = e;
@@ -152,7 +152,7 @@ public class BAQ {
         }
     }
 
-    private double calcEpsilon( byte ref, byte read, byte qualB ) {
+    protected double calcEpsilon( byte ref, byte read, byte qualB ) {
         return EPSILONS[ref][read][qualB];
     }
 
diff --git a/public/java/src/org/broadinstitute/sting/utils/clipreads/ClippingOp.java b/public/java/src/org/broadinstitute/sting/utils/clipreads/ClippingOp.java
index bc200372f..951ab265c 100644
--- a/public/java/src/org/broadinstitute/sting/utils/clipreads/ClippingOp.java
+++ b/public/java/src/org/broadinstitute/sting/utils/clipreads/ClippingOp.java
@@ -324,6 +324,8 @@ public class ClippingOp {
 
                 if (index <= stop && cigarElementIterator.hasNext())
                     cigarElement = cigarElementIterator.next();
+                else
+                    break;
             }
 
             // add the remaining cigar elements
@@ -363,6 +365,8 @@ public class ClippingOp {
                 index += shift;
                 if (index < start && cigarElementIterator.hasNext())
                     cigarElement = cigarElementIterator.next();
+                else
+                    break;
             }
 
             // check if we are hard clipping indels
diff --git a/public/java/src/org/broadinstitute/sting/utils/clipreads/ReadClipper.java b/public/java/src/org/broadinstitute/sting/utils/clipreads/ReadClipper.java
index 26c25850a..a8a3fad9e 100644
--- a/public/java/src/org/broadinstitute/sting/utils/clipreads/ReadClipper.java
+++ b/public/java/src/org/broadinstitute/sting/utils/clipreads/ReadClipper.java
@@ -1,6 +1,8 @@
 package org.broadinstitute.sting.utils.clipreads;
 
 import com.google.java.contract.Requires;
+import net.sf.samtools.CigarElement;
+import net.sf.samtools.CigarOperator;
 import net.sf.samtools.SAMRecord;
 import org.broadinstitute.sting.utils.exceptions.ReviewedStingException;
 import org.broadinstitute.sting.utils.sam.ReadUtils;
@@ -56,17 +58,34 @@ public class ReadClipper {
         return hardClipByReferenceCoordinates(refStart, -1);
     }
 
+    private int numDeletions(SAMRecord read) {
+        int result = 0;
+        for (CigarElement e: read.getCigar().getCigarElements()) {
+            if ( e.getOperator() == CigarOperator.DELETION || e.getOperator() == CigarOperator.D )
+                result =+ e.getLength();
+        }
+        return result;
+    }
+
     private SAMRecord hardClipByReferenceCoordinates(int refStart, int refStop) {
         int start = (refStart < 0) ? 0 : ReadUtils.getReadCoordinateForReferenceCoordinate(read, refStart);
-        int stop =  (refStop  < 0) ? read.getReadLength() - 1 : ReadUtils.getReadCoordinateForReferenceCoordinate(read, refStop);
+        int stop =  (refStop  < 0) ? read.getReadLength() - 1: ReadUtils.getReadCoordinateForReferenceCoordinate(read, refStop);
 
-        if (start < 0 || stop > read.getReadLength() - 1)
+        if (start < 0 || stop > read.getReadLength() - 1 + numDeletions(read))
             throw new ReviewedStingException("Trying to clip before the start or after the end of a read");
 
-        // TODO add requires statement/check in the Hardclip function
+        // TODO add check in the Hardclip function
         if ( start > stop )
             stop = ReadUtils.getReadCoordinateForReferenceCoordinate(read, ReadUtils.getRefCoordSoftUnclippedEnd(read));
 
+
+        //This tries to fix the bug where the deletion is counted a read base and as a result, the hardCLipper runs into
+        //an endless loop when hard clipping the cigar string because the read coordinates are not covered by the read
+        stop -= numDeletions(read);
+        if ( start > stop )
+            start -= numDeletions(read);
+
+
         //System.out.println("Clipping start/stop: " + start + "/" + stop);
         this.addOp(new ClippingOp(start, stop));
         SAMRecord clippedRead = clipRead(ClippingRepresentation.HARDCLIP_BASES);
diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/refseq/RefSeqCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/refseq/RefSeqCodec.java
index d94d9ff84..f142fa5aa 100644
--- a/public/java/src/org/broadinstitute/sting/utils/codecs/refseq/RefSeqCodec.java
+++ b/public/java/src/org/broadinstitute/sting/utils/codecs/refseq/RefSeqCodec.java
@@ -12,19 +12,35 @@ import org.broadinstitute.sting.utils.exceptions.UserException;
 import java.util.ArrayList;
 
 /**
- * TODO FOR CHRIS HARTL
+ * Allows for reading in RefSeq information
  *
  * 

- * Codec Description + * Parses a sorted UCSC RefSeq file (see below) into relevant features: the gene name, the unique gene name (if multiple transcrips get separate entries), exons, gene start/stop, coding start/stop, + * strandedness of transcription. *

* *

- * See also: link to file specification + * Instructions for generating a RefSeq file for use with the RefSeq codec can be found on the Wiki here + * http://www.broadinstitute.org/gsa/wiki/index.php/RefSeq *

+ *

Usage

+ * The RefSeq Rod can be bound as any other rod, and is specified by REFSEQ, for example + *
+ * -refSeqBinding:REFSEQ /path/to/refSeq.txt
+ * 
+ * + * You will need to consult individual walkers for the binding name ("refSeqBinding", above) * *

File format example

+ * If you want to define your own file for use, the format is (tab delimited): + * bin, name, chrom, strand, transcription start, transcription end, coding start, coding end, num exons, exon starts, exon ends, id, alt. name, coding start status (complete/incomplete), coding end status (complete,incomplete) + * and exon frames, for example: + *
+ * 76 NM_001011874 1 - 3204562 3661579 3206102 3661429 3 3204562,3411782,3660632, 3207049,3411982,3661579, 0 Xkr4 cmpl cmpl 1,2,0,
+ * 
+ * for more information see here *

- * A BAM file containing exactly one sample. + * *

* * @author Mark DePristo diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/AbstractVCFCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/AbstractVCFCodec.java index bb212e128..83c7083d0 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/AbstractVCFCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/AbstractVCFCodec.java @@ -6,6 +6,7 @@ import org.broad.tribble.FeatureCodec; import org.broad.tribble.NameAwareCodec; import org.broad.tribble.TribbleException; import org.broad.tribble.readers.LineReader; +import org.broad.tribble.util.BlockCompressedInputStream; import org.broad.tribble.util.ParsingUtils; import org.broadinstitute.sting.gatk.refdata.SelfScopingFeatureCodec; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; @@ -215,7 +216,7 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec, int nParts = ParsingUtils.split(line, parts, VCFConstants.FIELD_SEPARATOR_CHAR, true); // if we have don't have a header, or we have a header with no genotyping data check that we have eight columns. Otherwise check that we have nine (normal colummns + genotyping data) - if (( (header == null || (header != null && !header.hasGenotypingData())) && nParts != NUM_STANDARD_FIELDS) || + if (( (header == null || !header.hasGenotypingData()) && nParts != NUM_STANDARD_FIELDS) || (header != null && header.hasGenotypingData() && nParts != (NUM_STANDARD_FIELDS + 1)) ) throw new UserException.MalformedVCF("there aren't enough columns for line " + line + " (we expected " + (header == null ? NUM_STANDARD_FIELDS : NUM_STANDARD_FIELDS + 1) + " tokens, and saw " + nParts + " )", lineNo); @@ -227,7 +228,7 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec, throw new UserException.MalformedVCF(message, lineNo); } - private static void generateException(String message, int lineNo) { + protected static void generateException(String message, int lineNo) { throw new UserException.MalformedVCF(message, lineNo); } @@ -345,6 +346,9 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec, generateException("The VCF specification requires a valid info field"); if ( !infoField.equals(VCFConstants.EMPTY_INFO_FIELD) ) { + if ( infoField.indexOf("\t") != -1 || infoField.indexOf(" ") != -1 ) + generateException("The VCF specification does not allow for whitespace in the INFO field"); + int infoValueSplitSize = ParsingUtils.split(infoField, infoValueArray, VCFConstants.INFO_FIELD_SEPARATOR_CHAR); for (int i = 0; i < infoValueSplitSize; i++) { String key; @@ -587,7 +591,8 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec, public final static boolean canDecodeFile(final File potentialInput, final String MAGIC_HEADER_LINE) { try { return isVCFStream(new FileInputStream(potentialInput), MAGIC_HEADER_LINE) || - isVCFStream(new GZIPInputStream(new FileInputStream(potentialInput)), MAGIC_HEADER_LINE); + isVCFStream(new GZIPInputStream(new FileInputStream(potentialInput)), MAGIC_HEADER_LINE) || + isVCFStream(new BlockCompressedInputStream(new FileInputStream(potentialInput)), MAGIC_HEADER_LINE); } catch ( FileNotFoundException e ) { return false; } catch ( IOException e ) { @@ -598,12 +603,17 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec, private final static boolean isVCFStream(final InputStream stream, final String MAGIC_HEADER_LINE) { try { byte[] buff = new byte[MAGIC_HEADER_LINE.length()]; - stream.read(buff, 0, MAGIC_HEADER_LINE.length()); - String firstLine = new String(buff); - stream.close(); - return firstLine.startsWith(MAGIC_HEADER_LINE); + int nread = stream.read(buff, 0, MAGIC_HEADER_LINE.length()); + boolean eq = Arrays.equals(buff, MAGIC_HEADER_LINE.getBytes()); + return eq; +// String firstLine = new String(buff); +// return firstLine.startsWith(MAGIC_HEADER_LINE); } catch ( IOException e ) { return false; + } catch ( RuntimeException e ) { + return false; + } finally { + try { stream.close(); } catch ( IOException e ) {} } } } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/IndexingVCFWriter.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/IndexingVCFWriter.java new file mode 100644 index 000000000..71ec4ce1b --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/IndexingVCFWriter.java @@ -0,0 +1,144 @@ +/* + * Copyright (c) 2011, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.vcf; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import net.sf.samtools.SAMSequenceDictionary; +import org.broad.tribble.Tribble; +import org.broad.tribble.TribbleException; +import org.broad.tribble.index.DynamicIndexCreator; +import org.broad.tribble.index.Index; +import org.broad.tribble.index.IndexFactory; +import org.broad.tribble.util.LittleEndianOutputStream; +import org.broad.tribble.util.PositionalStream; +import org.broadinstitute.sting.gatk.refdata.tracks.IndexDictionaryUtils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; + +import java.io.*; + +/** + * this class writes VCF files + */ +public abstract class IndexingVCFWriter implements VCFWriter { + final private String name; + private final SAMSequenceDictionary refDict; + + private OutputStream outputStream; + private PositionalStream positionalStream = null; + private DynamicIndexCreator indexer = null; + private LittleEndianOutputStream idxStream = null; + + @Requires({"name != null", + "! ( location == null && output == null )", + "! ( enableOnTheFlyIndexing && location == null )"}) + protected IndexingVCFWriter(final String name, final File location, final OutputStream output, final SAMSequenceDictionary refDict, final boolean enableOnTheFlyIndexing) { + outputStream = output; + this.name = name; + this.refDict = refDict; + + if ( enableOnTheFlyIndexing ) { + try { + idxStream = new LittleEndianOutputStream(new FileOutputStream(Tribble.indexFile(location))); + //System.out.println("Creating index on the fly for " + location); + indexer = new DynamicIndexCreator(IndexFactory.IndexBalanceApproach.FOR_SEEK_TIME); + indexer.initialize(location, indexer.defaultBinSize()); + positionalStream = new PositionalStream(output); + outputStream = positionalStream; + } catch ( IOException ex ) { + // No matter what we keep going, since we don't care if we can't create the index file + idxStream = null; + indexer = null; + positionalStream = null; + } + } + } + + @Ensures("result != null") + public OutputStream getOutputStream() { + return outputStream; + } + + @Ensures("result != null") + public String getStreamName() { + return name; + } + + public abstract void writeHeader(VCFHeader header); + + /** + * attempt to close the VCF file + */ + public void close() { + // try to close the index stream (keep it separate to help debugging efforts) + if ( indexer != null ) { + try { + Index index = indexer.finalizeIndex(positionalStream.getPosition()); + IndexDictionaryUtils.setIndexSequenceDictionary(index, refDict); + index.write(idxStream); + idxStream.close(); + } catch (IOException e) { + throw new ReviewedStingException("Unable to close index for " + getStreamName(), e); + } + } + } + + /** + * add a record to the file + * + * @param vc the Variant Context object + */ + public void add(VariantContext vc) { + // if we are doing on the fly indexing, add the record ***before*** we write any bytes + if ( indexer != null ) + indexer.addFeature(vc, positionalStream.getPosition()); + } + + /** + * Returns a reasonable "name" for this writer, to display to the user if something goes wrong + * + * @param location + * @param stream + * @return + */ + protected static final String writerName(final File location, final OutputStream stream) { + return location == null ? stream.toString() : location.getAbsolutePath(); + } + + /** + * Returns a output stream writing to location, or throws a UserException if this fails + * @param location + * @return + */ + protected static OutputStream openOutputStream(final File location) { + try { + return new FileOutputStream(location); + } catch (FileNotFoundException e) { + throw new UserException.CouldNotCreateOutputFile(location, "Unable to create VCF writer", e); + } + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/StandardVCFWriter.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/StandardVCFWriter.java index d3705813c..0da7a100f 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/StandardVCFWriter.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/StandardVCFWriter.java @@ -24,6 +24,7 @@ package org.broadinstitute.sting.utils.codecs.vcf; +import net.sf.samtools.SAMSequenceDictionary; import org.broad.tribble.Tribble; import org.broad.tribble.TribbleException; import org.broad.tribble.index.DynamicIndexCreator; @@ -44,46 +45,30 @@ import java.util.*; /** * this class writes VCF files */ -public class StandardVCFWriter implements VCFWriter { +public class StandardVCFWriter extends IndexingVCFWriter { + // the print stream we're writing to + final protected BufferedWriter mWriter; + + // should we write genotypes or just sites? + final protected boolean doNotWriteGenotypes; // the VCF header we're storing protected VCFHeader mHeader = null; - // the print stream we're writing to - protected BufferedWriter mWriter; - protected PositionalStream positionalStream = null; - // were filters applied? protected boolean filtersWereAppliedToContext = false; - // should we write genotypes or just sites? - protected boolean doNotWriteGenotypes = false; - - protected DynamicIndexCreator indexer = null; - protected File indexFile = null; - LittleEndianOutputStream idxStream = null; - File location = null; - /** * create a VCF writer, given a file to write to * * @param location the file location to write to */ - public StandardVCFWriter(File location) { - this(location, openOutputStream(location), true, false); + public StandardVCFWriter(final File location, final SAMSequenceDictionary refDict) { + this(location, openOutputStream(location), refDict, true, false); } - public StandardVCFWriter(File location, boolean enableOnTheFlyIndexing) { - this(location, openOutputStream(location), enableOnTheFlyIndexing, false); - } - - /** - * create a VCF writer, given a stream to write to - * - * @param output the file location to write to - */ - public StandardVCFWriter(OutputStream output) { - this(output, false); + public StandardVCFWriter(File location, final SAMSequenceDictionary refDict, boolean enableOnTheFlyIndexing) { + this(location, openOutputStream(location), refDict, enableOnTheFlyIndexing, false); } /** @@ -92,33 +77,23 @@ public class StandardVCFWriter implements VCFWriter { * @param output the file location to write to * @param doNotWriteGenotypes do not write genotypes */ - public StandardVCFWriter(OutputStream output, boolean doNotWriteGenotypes) { - mWriter = new BufferedWriter(new OutputStreamWriter(output)); + public StandardVCFWriter(final OutputStream output, final SAMSequenceDictionary refDict, final boolean doNotWriteGenotypes) { + this(null, output, refDict, false, doNotWriteGenotypes); + } + + public StandardVCFWriter(final File location, final OutputStream output, final SAMSequenceDictionary refDict, final boolean enableOnTheFlyIndexing, boolean doNotWriteGenotypes) { + super(writerName(location, output), location, output, refDict, enableOnTheFlyIndexing); + mWriter = new BufferedWriter(new OutputStreamWriter(getOutputStream())); // todo -- fix buffer size this.doNotWriteGenotypes = doNotWriteGenotypes; } - public StandardVCFWriter(File location, OutputStream output, boolean enableOnTheFlyIndexing, boolean doNotWriteGenotypes) { - this.location = location; - - if ( enableOnTheFlyIndexing ) { - indexFile = Tribble.indexFile(location); - try { - idxStream = new LittleEndianOutputStream(new FileOutputStream(indexFile)); - //System.out.println("Creating index on the fly for " + location); - indexer = new DynamicIndexCreator(IndexFactory.IndexBalanceApproach.FOR_SEEK_TIME); - indexer.initialize(location, indexer.defaultBinSize()); - positionalStream = new PositionalStream(output); - output = positionalStream; - } catch ( IOException ex ) { - // No matter what we keep going, since we don't care if we can't create the index file - } - } - - //mWriter = new BufferedWriter(new OutputStreamWriter(new PositionalStream(output))); - mWriter = new BufferedWriter(new OutputStreamWriter(output)); - this.doNotWriteGenotypes = doNotWriteGenotypes; - } + // -------------------------------------------------------------------------------- + // + // VCFWriter interface functions + // + // -------------------------------------------------------------------------------- + @Override public void writeHeader(VCFHeader header) { mHeader = doNotWriteGenotypes ? new VCFHeader(header.getMetaData()) : header; @@ -158,44 +133,24 @@ public class StandardVCFWriter implements VCFWriter { mWriter.flush(); // necessary so that writing to an output stream will work } catch (IOException e) { - throw new TribbleException("IOException writing the VCF header to " + locationString(), e); + throw new ReviewedStingException("IOException writing the VCF header to " + getStreamName(), e); } } - private String locationString() { - return location == null ? mWriter.toString() : location.getAbsolutePath(); - } - /** * attempt to close the VCF file */ + @Override public void close() { // try to close the vcf stream try { mWriter.flush(); mWriter.close(); } catch (IOException e) { - throw new TribbleException("Unable to close " + locationString() + " because of " + e.getMessage()); + throw new ReviewedStingException("Unable to close " + getStreamName(), e); } - // try to close the index stream (keep it separate to help debugging efforts) - if ( indexer != null ) { - try { - Index index = indexer.finalizeIndex(positionalStream.getPosition()); - index.write(idxStream); - idxStream.close(); - } catch (IOException e) { - throw new TribbleException("Unable to close index for " + locationString() + " because of " + e.getMessage()); - } - } - } - - protected static OutputStream openOutputStream(File location) { - try { - return new FileOutputStream(location); - } catch (FileNotFoundException e) { - throw new TribbleException("Unable to create VCF file at location: " + location); - } + super.close(); } /** @@ -203,28 +158,17 @@ public class StandardVCFWriter implements VCFWriter { * * @param vc the Variant Context object */ + @Override public void add(VariantContext vc) { - add(vc, false); - } - - /** - * add a record to the file - * - * @param vc the Variant Context object - * @param refBaseShouldBeAppliedToEndOfAlleles *** THIS SHOULD BE FALSE EXCEPT FOR AN INDEL AT THE EXTREME BEGINNING OF A CONTIG (WHERE THERE IS NO PREVIOUS BASE, SO WE USE THE BASE AFTER THE EVENT INSTEAD) - */ - public void add(VariantContext vc, boolean refBaseShouldBeAppliedToEndOfAlleles) { if ( mHeader == null ) - throw new IllegalStateException("The VCF Header must be written before records can be added: " + locationString()); + throw new IllegalStateException("The VCF Header must be written before records can be added: " + getStreamName()); if ( doNotWriteGenotypes ) vc = VariantContext.modifyGenotypes(vc, null); try { - vc = VariantContext.createVariantContextWithPaddedAlleles(vc, refBaseShouldBeAppliedToEndOfAlleles); - - // if we are doing on the fly indexing, add the record ***before*** we write any bytes - if ( indexer != null ) indexer.addFeature(vc, positionalStream.getPosition()); + vc = VariantContext.createVariantContextWithPaddedAlleles(vc, false); + super.add(vc); Map alleleMap = new HashMap(vc.getAlleles().size()); alleleMap.put(Allele.NO_CALL, VCFConstants.EMPTY_ALLELE); // convenience for lookup @@ -275,7 +219,7 @@ public class StandardVCFWriter implements VCFWriter { mWriter.write(VCFConstants.FIELD_SEPARATOR); // FILTER - String filters = vc.isFiltered() ? ParsingUtils.join(";", ParsingUtils.sortList(vc.getFilters())) : (filtersWereAppliedToContext || vc.filtersWereApplied() ? VCFConstants.PASSES_FILTERS_v4 : VCFConstants.UNFILTERED); + String filters = getFilterString(vc, filtersWereAppliedToContext); mWriter.write(filters); mWriter.write(VCFConstants.FIELD_SEPARATOR); @@ -317,9 +261,22 @@ public class StandardVCFWriter implements VCFWriter { mWriter.write("\n"); mWriter.flush(); // necessary so that writing to an output stream will work } catch (IOException e) { - throw new RuntimeException("Unable to write the VCF object to " + locationString()); + throw new RuntimeException("Unable to write the VCF object to " + getStreamName()); } + } + // -------------------------------------------------------------------------------- + // + // implementation functions + // + // -------------------------------------------------------------------------------- + + public static final String getFilterString(final VariantContext vc) { + return getFilterString(vc, false); + } + + public static final String getFilterString(final VariantContext vc, boolean forcePASS) { + return vc.isFiltered() ? ParsingUtils.join(";", ParsingUtils.sortList(vc.getFilters())) : (forcePASS || vc.filtersWereApplied() ? VCFConstants.PASSES_FILTERS_v4 : VCFConstants.UNFILTERED); } private String getQualValue(double qual) { @@ -462,7 +419,7 @@ public class StandardVCFWriter implements VCFWriter { mWriter.write(encoding); } - private static String formatVCFField(Object val) { + public static String formatVCFField(Object val) { String result; if ( val == null ) result = VCFConstants.MISSING_VALUE_v4; @@ -524,12 +481,11 @@ public class StandardVCFWriter implements VCFWriter { } - public static int countOccurrences(char c, String s) { + private static int countOccurrences(char c, String s) { int count = 0; for (int i = 0; i < s.length(); i++) { count += s.charAt(i) == c ? 1 : 0; } return count; } - } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCodec.java index fa030ef5f..42ea05355 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCodec.java @@ -105,34 +105,37 @@ public class VCFCodec extends AbstractVCFCodec { * @return a set of the filters applied or null if filters were not applied to the record (e.g. as per the missing value in a VCF) */ protected Set parseFilters(String filterString) { + return parseFilters(filterHash, lineNo, filterString); + } + public static Set parseFilters(final Map> cache, final int lineNo, final String filterString) { // null for unfiltered if ( filterString.equals(VCFConstants.UNFILTERED) ) return null; - // empty set for passes filters - LinkedHashSet fFields = new LinkedHashSet(); - if ( filterString.equals(VCFConstants.PASSES_FILTERS_v4) ) - return fFields; + return Collections.emptySet(); if ( filterString.equals(VCFConstants.PASSES_FILTERS_v3) ) - generateException(VCFConstants.PASSES_FILTERS_v3 + " is an invalid filter name in vcf4"); + generateException(VCFConstants.PASSES_FILTERS_v3 + " is an invalid filter name in vcf4", lineNo); if ( filterString.length() == 0 ) - generateException("The VCF specification requires a valid filter status"); + generateException("The VCF specification requires a valid filter status: filter was " + filterString, lineNo); // do we have the filter string cached? - if ( filterHash.containsKey(filterString) ) - return filterHash.get(filterString); + if ( cache != null && cache.containsKey(filterString) ) + return Collections.unmodifiableSet(cache.get(filterString)); + // empty set for passes filters + LinkedHashSet fFields = new LinkedHashSet(); // otherwise we have to parse and cache the value if ( filterString.indexOf(VCFConstants.FILTER_CODE_SEPARATOR) == -1 ) fFields.add(filterString); else fFields.addAll(Arrays.asList(filterString.split(VCFConstants.FILTER_CODE_SEPARATOR))); - filterHash.put(filterString, fFields); + fFields = fFields; + if ( cache != null ) cache.put(filterString, fFields); - return fFields; + return Collections.unmodifiableSet(fFields); } diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCF.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCF.java new file mode 100644 index 000000000..ef0d9ca42 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/gcf/GCF.java @@ -0,0 +1,256 @@ +/* + * Copyright (c) 2011, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.gcf; + +import org.broadinstitute.sting.utils.codecs.vcf.StandardVCFWriter; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; + +import java.io.*; +import java.util.*; + +/** + * GATK binary VCF record + * + * @author Your Name + * @since Date created + */ +public class GCF { + private final static int RECORD_TERMINATOR = 123456789; + private int chromOffset; + private int start, stop; + private String id; + private List alleleMap; + private int alleleOffsets[]; + private float qual; + private byte refPad; + private String info; + private int filterOffset; + + private List genotypes = Collections.emptyList(); + + public GCF(final GCFHeaderBuilder GCFHeaderBuilder, final VariantContext vc, boolean skipGenotypes) { + chromOffset = GCFHeaderBuilder.encodeString(vc.getChr()); + start = vc.getStart(); + stop = vc.getEnd(); + refPad = vc.hasReferenceBaseForIndel() ? vc.getReferenceBaseForIndel() : 0; + id = vc.getID(); + + // encode alleles + alleleMap = new ArrayList(vc.getNAlleles()); + alleleOffsets = new int[vc.getNAlleles()]; + alleleMap.add(vc.getReference()); + alleleOffsets[0] = GCFHeaderBuilder.encodeAllele(vc.getReference()); + for ( int i = 0; i < vc.getAlternateAlleles().size(); i++ ) { + alleleMap.add(vc.getAlternateAllele(i)); + alleleOffsets[i+1] = GCFHeaderBuilder.encodeAllele(vc.getAlternateAllele(i)); + } + + qual = (float)vc.getNegLog10PError(); //qualToByte(vc.getPhredScaledQual()); + info = infoFieldString(vc, GCFHeaderBuilder); + filterOffset = GCFHeaderBuilder.encodeString(StandardVCFWriter.getFilterString(vc)); + + if ( ! skipGenotypes ) { + genotypes = encodeGenotypes(GCFHeaderBuilder, vc); + } + } + + public GCF(DataInputStream inputStream, boolean skipGenotypes) throws IOException, EOFException { + chromOffset = inputStream.readInt(); + + // have we reached the footer? + if ( chromOffset == GCFHeader.FOOTER_START_MARKER ) + throw new EOFException(); + + start = inputStream.readInt(); + stop = inputStream.readInt(); + id = inputStream.readUTF(); + refPad = inputStream.readByte(); + alleleOffsets = readIntArray(inputStream); + qual = inputStream.readFloat(); + info = inputStream.readUTF(); + filterOffset = inputStream.readInt(); + + int nGenotypes = inputStream.readInt(); + int sizeOfGenotypes = inputStream.readInt(); + if ( skipGenotypes ) { + genotypes = Collections.emptyList(); + inputStream.skipBytes(sizeOfGenotypes); + } else { + genotypes = new ArrayList(nGenotypes); + for ( int i = 0; i < nGenotypes; i++ ) + genotypes.add(new GCFGenotype(this, inputStream)); + } + + int recordDone = inputStream.readInt(); + if ( recordDone != RECORD_TERMINATOR ) + throw new UserException.MalformedFile("Record not terminated by RECORD_TERMINATOR key"); + } + + public int write(DataOutputStream outputStream) throws IOException { + int startSize = outputStream.size(); + outputStream.writeInt(chromOffset); + outputStream.writeInt(start); + outputStream.writeInt(stop); + outputStream.writeUTF(id); + outputStream.writeByte(refPad); + writeIntArray(alleleOffsets, outputStream, true); + outputStream.writeFloat(qual); + outputStream.writeUTF(info); + outputStream.writeInt(filterOffset); + + int nGenotypes = genotypes.size(); + int expectedSizeOfGenotypes = nGenotypes == 0 ? 0 : genotypes.get(0).sizeInBytes() * nGenotypes; + outputStream.writeInt(nGenotypes); + outputStream.writeInt(expectedSizeOfGenotypes); + int obsSizeOfGenotypes = 0; + for ( GCFGenotype g : genotypes ) + obsSizeOfGenotypes += g.write(outputStream); + if ( obsSizeOfGenotypes != expectedSizeOfGenotypes ) + throw new RuntimeException("Expect and observed genotype sizes disagree! expect = " + expectedSizeOfGenotypes + " obs =" + obsSizeOfGenotypes); + + outputStream.writeInt(RECORD_TERMINATOR); + return outputStream.size() - startSize; + } + + public VariantContext decode(final String source, final GCFHeader header) { + final String contig = header.getString(chromOffset); + alleleMap = header.getAlleles(alleleOffsets); + double negLog10PError = qual; // QualityUtils.qualToErrorProb(qual); + Set filters = header.getFilters(filterOffset); + Map attributes = new HashMap(); + attributes.put("INFO", info); + Byte refPadByte = refPad == 0 ? null : refPad; + Map genotypes = decodeGenotypes(header); + + return new VariantContext(source, contig, start, stop, alleleMap, genotypes, negLog10PError, filters, attributes, refPadByte); + } + + private Map decodeGenotypes(final GCFHeader header) { + if ( genotypes.isEmpty() ) + return VariantContext.NO_GENOTYPES; + else { + Map map = new TreeMap(); + + for ( int i = 0; i < genotypes.size(); i++ ) { + final String sampleName = header.getSample(i); + final Genotype g = genotypes.get(i).decode(sampleName, header, this, alleleMap); + map.put(sampleName, g); + } + + return map; + } + } + + private List encodeGenotypes(final GCFHeaderBuilder GCFHeaderBuilder, final VariantContext vc) { + int nGenotypes = vc.getNSamples(); + if ( nGenotypes > 0 ) { + List genotypes = new ArrayList(nGenotypes); + for ( int i = 0; i < nGenotypes; i++ ) genotypes.add(null); + + for ( Genotype g : vc.getGenotypes().values() ) { + int i = GCFHeaderBuilder.encodeSample(g.getSampleName()); + genotypes.set(i, new GCFGenotype(GCFHeaderBuilder, alleleMap, g)); + } + + return genotypes; + } else { + return Collections.emptyList(); + } + } + + public int getNAlleles() { return alleleOffsets.length; } + + + private final String infoFieldString(VariantContext vc, final GCFHeaderBuilder GCFHeaderBuilder) { + StringBuilder s = new StringBuilder(); + + boolean first = true; + for ( Map.Entry field : vc.getAttributes().entrySet() ) { + String key = field.getKey(); + if ( key.equals(VariantContext.ID_KEY) || key.equals(VariantContext.UNPARSED_GENOTYPE_MAP_KEY) || key.equals(VariantContext.UNPARSED_GENOTYPE_PARSER_KEY) ) + continue; + int stringIndex = GCFHeaderBuilder.encodeString(key); + String outputValue = StandardVCFWriter.formatVCFField(field.getValue()); + if ( outputValue != null ) { + if ( ! first ) s.append(";"); + s.append(stringIndex).append("=").append(outputValue); + first = false; + } + } + + return s.toString(); + } + + protected final static int BUFFER_SIZE = 1048576; // 2**20 + + public static DataInputStream createDataInputStream(final InputStream stream) { + return new DataInputStream(new BufferedInputStream(stream, BUFFER_SIZE)); + } + + public static FileInputStream createFileInputStream(final File file) throws FileNotFoundException { + return new FileInputStream(file); + } + + protected final static int[] readIntArray(final DataInputStream inputStream) throws IOException { + return readIntArray(inputStream, inputStream.readInt()); + } + + protected final static int[] readIntArray(final DataInputStream inputStream, int size) throws IOException { + int[] array = new int[size]; + for ( int i = 0; i < array.length; i++ ) + array[i] = inputStream.readInt(); + return array; + } + + protected final static void writeIntArray(int[] array, final DataOutputStream outputStream, boolean writeSize) throws IOException { + if ( writeSize ) outputStream.writeInt(array.length); + for ( int i : array ) + outputStream.writeInt(i); + } + + protected final static byte[] readByteArray(final DataInputStream inputStream) throws IOException { + return readByteArray(inputStream, inputStream.readInt()); + } + + protected final static byte[] readByteArray(final DataInputStream inputStream, int size) throws IOException { + byte[] array = new byte[size]; + for ( int i = 0; i < array.length; i++ ) + array[i] = inputStream.readByte(); + return array; + } + + protected final static void writeByteArray(byte[] array, final DataOutputStream outputStream, boolean writeSize) throws IOException { + if ( writeSize ) outputStream.writeInt(array.length); + for ( byte i : array ) + outputStream.writeByte(i); + } + + protected final static byte qualToByte(double phredScaledQual) { + return (byte)Math.round(Math.min(phredScaledQual, 255)); + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFGenotype.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFGenotype.java new file mode 100644 index 000000000..dd1fb091c --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFGenotype.java @@ -0,0 +1,147 @@ +/* + * Copyright (c) 2011, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.gcf; + +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.Genotype; + +import java.io.DataInputStream; +import java.io.DataOutputStream; +import java.io.IOException; +import java.util.*; + +/** + * GATK binary VCF record + * + * @author Your Name + * @since Date created + */ +public class GCFGenotype { + private byte gq; + private int gt; + private int dp; + private int ad[]; + private byte[] pl; + + // todo -- what to do about phasing? Perhaps we shouldn't support it + // todo -- is the FL field generic or just a flag? Should we even support per sample filtering? + + public GCFGenotype(final GCFHeaderBuilder GCFHeaderBuilder, final List allAlleles, Genotype genotype) { + gq = GCF.qualToByte(genotype.getPhredScaledQual()); + gt = encodeAlleles(genotype.getAlleles(), allAlleles); + + dp = genotype.getAttributeAsInt("DP", 0); + + int nAlleles = allAlleles.size(); + ad = new int[nAlleles]; + + int npls = nAllelesToNPls(nAlleles); + pl = new byte[npls]; + } + + private int nAllelesToNPls( int nAlleles ) { + return nAlleles*(nAlleles+1) / 2; + } + + public GCFGenotype(GCF GCF, DataInputStream inputStream) throws IOException { + int gqInt = inputStream.readUnsignedByte(); + gq = (byte)gqInt; + gt = inputStream.readInt(); + dp = inputStream.readInt(); + ad = GCF.readIntArray(inputStream, GCF.getNAlleles()); + pl = GCF.readByteArray(inputStream, nAllelesToNPls(GCF.getNAlleles())); + } + + // 2 alleles => 1 + 8 + 8 + 3 => 20 + protected int sizeInBytes() { + return 1 // gq + + 4 * 2 // gt + dp + + 4 * ad.length // ad + + 1 * pl.length; // pl + } + + public Genotype decode(final String sampleName, final GCFHeader header, GCF GCF, List alleleIndex) { + final List alleles = decodeAlleles(gt, alleleIndex); + final double negLog10PError = gq / 10.0; + final Set filters = Collections.emptySet(); + final Map attributes = new HashMap(); + attributes.put("DP", dp); + attributes.put("AD", ad); + attributes.put("PL", pl); + + return new Genotype(sampleName, alleles, negLog10PError, filters, attributes, false); + } + + private static int encodeAlleles(List gtList, List allAlleles) { + final int nAlleles = gtList.size(); + if ( nAlleles > 4 ) + throw new IllegalArgumentException("encodeAlleles doesn't support more than 4 alt alleles, but I saw " + gtList); + + int gtInt = 0; + for ( int i = 0; i < nAlleles ; i++ ) { + final int bitOffset = i * 8; + final int allelei = getAlleleIndex(gtList.get(i), allAlleles); + final int gti = (allelei + 1) << bitOffset; + gtInt = gtInt | gti; + } + + return gtInt; + } + + private static int getAlleleIndex(Allele q, List allAlleles) { + if ( q.isNoCall() ) + return 254; + for ( int i = 0; i < allAlleles.size(); i++ ) + if ( q.equals(allAlleles.get(i)) ) + return i; + throw new IllegalStateException("getAlleleIndex passed allele not in map! allele " + q + " allAlleles " + allAlleles); + } + + private static List decodeAlleles(int gtInt, List alleleIndex) { + List alleles = new ArrayList(4); + + for ( int i = 0; i < 32; i += 8 ) { + final int gi = (gtInt & (0x000000FF << i)) >> i; + if ( gi != 0 ) { + final int allelei = gi - 1; + alleles.add( allelei == 254 ? Allele.NO_CALL : alleleIndex.get(allelei) ); + } else { + break; + } + } + + return alleles; + } + + public int write(DataOutputStream outputStream) throws IOException { + int startSize = outputStream.size(); + outputStream.writeByte(gq); + outputStream.writeInt(gt); + outputStream.writeInt(dp); + GCF.writeIntArray(ad, outputStream, false); + GCF.writeByteArray(pl, outputStream, false); + return outputStream.size() - startSize; + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeader.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeader.java new file mode 100644 index 000000000..6d96eda56 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeader.java @@ -0,0 +1,205 @@ +/* + * Copyright (c) 2011, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.gcf; + +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.Allele; + +import java.io.*; +import java.util.*; + +/** + * [Short one sentence description of this walker] + *

+ *

+ * [Functionality of this walker] + *

+ *

+ *

Input

+ *

+ * [Input description] + *

+ *

+ *

Output

+ *

+ * [Output description] + *

+ *

+ *

Examples

+ *
+ *    java
+ *      -jar GenomeAnalysisTK.jar
+ *      -T $WalkerName
+ *  
+ * + * @author Your Name + * @since Date created + */ +public class GCFHeader { + final protected static Logger logger = Logger.getLogger(GCFHeader.class); + + public final static int GCF_VERSION = 1; + public final static byte[] GCF_FILE_START_MARKER = "GCF\1".getBytes(); + public final static int FOOTER_START_MARKER = -1; + public final static long HEADER_FORWARD_REFERENCE_OFFSET = GCF_FILE_START_MARKER.length + 4; // for the version + + final int version; + long footerPosition; + final List alleles; + final List strings; + final List samples; + final List> filters; + + public GCFHeader(final Map allelesIn, final Map stringIn, final Map samplesIn) { + version = GCF_VERSION; + footerPosition = 0; + this.alleles = linearize(allelesIn); + this.strings = linearize(stringIn); + this.samples = linearize(samplesIn); + this.filters = null; // not used with this constructor + } + + public GCFHeader(FileInputStream fileInputStream) throws IOException { + DataInputStream inputStream = new DataInputStream(fileInputStream); + byte[] headerTest = new byte[GCF_FILE_START_MARKER.length]; + inputStream.read(headerTest); + if ( ! Arrays.equals(headerTest, GCF_FILE_START_MARKER) ) { + throw new UserException("Could not read GVCF file. GCF_FILE_START_MARKER missing. Saw " + new String(headerTest)); + } else { + version = inputStream.readInt(); + logger.info("Read GCF version " + version); + footerPosition = inputStream.readLong(); + logger.info("Read footer position of " + footerPosition); + long lastPos = fileInputStream.getChannel().position(); + logger.info(" Last position is " + lastPos); + + // seek to the footer + fileInputStream.getChannel().position(footerPosition); + if ( inputStream.readInt() != FOOTER_START_MARKER ) + throw new UserException.MalformedFile("Malformed GCF file: couldn't find the footer marker"); + alleles = stringsToAlleles(readStrings(inputStream)); + strings = readStrings(inputStream); + samples = readStrings(inputStream); + logger.info(String.format("Allele map of %d elements", alleles.size())); + logger.info(String.format("String map of %d elements", strings.size())); + logger.info(String.format("Sample map of %d elements", samples.size())); + filters = initializeFilterCache(); + fileInputStream.getChannel().position(lastPos); + } + } + + public static int writeHeader(final DataOutputStream outputStream) throws IOException { + int startBytes = outputStream.size(); + outputStream.write(GCF_FILE_START_MARKER); + outputStream.writeInt(GCF_VERSION); + outputStream.writeLong(0); + return outputStream.size() - startBytes; + } + + public int writeFooter(final DataOutputStream outputStream) throws IOException { + int startBytes = outputStream.size(); + outputStream.writeInt(FOOTER_START_MARKER); // has to be the same as chrom encoding + write(outputStream, allelesToStrings(alleles)); + write(outputStream, strings); + write(outputStream, samples); + return outputStream.size() - startBytes; + } + + private void write(DataOutputStream outputStream, List l) throws IOException { + outputStream.writeInt(l.size()); + for ( String elt : l ) outputStream.writeUTF(elt); + } + + private List allelesToStrings(List alleles) { + List strings = new ArrayList(alleles.size()); + for ( Allele allele : alleles ) strings.add(allele.toString()); + return strings; + } + + private List> initializeFilterCache() { + // required to allow offset -> set lookup + List> l = new ArrayList>(strings.size()); + for ( int i = 0; i < strings.size(); i++ ) l.add(null); + return l; + } + + private static List stringsToAlleles(final List strings) { + final List alleles = new ArrayList(strings.size()); + for ( String string : strings ) { + boolean isRef = string.endsWith("*"); + if ( isRef ) string = string.substring(0, string.length() - 1); + alleles.add(Allele.create(string, isRef)); + } + return alleles; + } + + private static List readStrings(final DataInputStream inputStream) throws IOException { + final int nStrings = inputStream.readInt(); + + final List strings = new ArrayList(nStrings); + for ( int i = 0; i < nStrings; i++ ) { + strings.add(inputStream.readUTF()); + } + + return strings; + } + + private static List linearize(final Map map) { + final ArrayList l = new ArrayList(map.size()); + for ( int i = 0; i < map.size(); i++ ) l.add(null); + for ( final Map.Entry elt : map.entrySet() ) + l.set(elt.getValue(), elt.getKey()); + return l; + } + + public String getSample(final int offset) { return samples.get(offset); } + public String getString(final int offset) { return strings.get(offset); } + public Allele getAllele(final int offset) { return alleles.get(offset); } + public List getAlleles(final int[] offsets) { + final List alleles = new ArrayList(offsets.length); + for ( int i : offsets ) alleles.add(getAllele(i)); + return alleles; + } + + public Set getFilters(final int offset) { + Set cached = filters.get(offset); + + if ( cached != null ) + return cached; + else { + final String filterString = getString(offset); + if ( filterString.equals(VCFConstants.UNFILTERED) ) + return null; // UNFILTERED records are represented by null + else { + Set set = VCFCodec.parseFilters(null, -1, filterString); + filters.set(offset, set); // remember the result + return set; + } + } + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeaderBuilder.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeaderBuilder.java new file mode 100644 index 000000000..40e01ec72 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeaderBuilder.java @@ -0,0 +1,80 @@ +/* + * Copyright (c) 2011, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.gcf; + +import org.broadinstitute.sting.utils.variantcontext.Allele; + +import java.util.HashMap; +import java.util.Map; + +/** + * [Short one sentence description of this walker] + *

+ *

+ * [Functionality of this walker] + *

+ *

+ *

Input

+ *

+ * [Input description] + *

+ *

+ *

Output

+ *

+ * [Output description] + *

+ *

+ *

Examples

+ *
+ *    java
+ *      -jar GenomeAnalysisTK.jar
+ *      -T $WalkerName
+ *  
+ * + * @author Your Name + * @since Date created + */ +public class GCFHeaderBuilder { + Map alleles = new HashMap(); + Map strings = new HashMap(); + Map samples = new HashMap(); + + public GCFHeader createHeader() { + return new GCFHeader(alleles, strings, samples); + } + + public int encodeString(final String chr) { return encode(strings, chr); } + public int encodeAllele(final Allele allele) { return encode(alleles, allele); } + public int encodeSample(final String sampleName) { return encode(samples, sampleName); } + + private int encode(Map map, T key) { + Integer v = map.get(key); + if ( v == null ) { + v = map.size(); + map.put(key, v); + } + return v; + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFWriter.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFWriter.java new file mode 100644 index 000000000..18fae18c4 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFWriter.java @@ -0,0 +1,123 @@ +/* + * Copyright (c) 2011, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.gcf; + +import net.sf.samtools.SAMSequenceDictionary; +import org.broadinstitute.sting.utils.codecs.vcf.IndexingVCFWriter; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; + +import java.io.*; + +/** + * GCFWriter implementing the VCFWriter interface + * @author Your Name + * @since Date created + */ +public class GCFWriter extends IndexingVCFWriter { + final boolean skipGenotypes; + final FileOutputStream fileOutputStream; + final DataOutputStream dataOutputStream; + final GCFHeaderBuilder gcfHeaderBuilder; + int nbytes = 0; + VCFHeader header = null; + File location; + + // -------------------------------------------------------------------------------- + // + // Constructors + // + // -------------------------------------------------------------------------------- + + public GCFWriter(final File location, final SAMSequenceDictionary refDict, boolean enableOnTheFlyIndexing, boolean doNotWriteGenotypes) { + super(writerName(location, null), location, null, refDict, enableOnTheFlyIndexing); + this.location = location; + this.skipGenotypes = doNotWriteGenotypes; + + // write the output + try { + fileOutputStream = new FileOutputStream(location); + dataOutputStream = createDataOutputStream(fileOutputStream); + gcfHeaderBuilder = new GCFHeaderBuilder(); + } catch ( FileNotFoundException e ) { + throw new UserException.CouldNotCreateOutputFile(location, e); + } + } + + // -------------------------------------------------------------------------------- + // + // VCFWriter interface functions + // + // -------------------------------------------------------------------------------- + + @Override + public void writeHeader(VCFHeader header) { + this.header = header; + try { + nbytes += GCFHeader.writeHeader(dataOutputStream); + } catch ( IOException e ) { + throw new UserException.CouldNotCreateOutputFile(getStreamName(), "Couldn't write header", e); + } + } + + @Override + public void add(VariantContext vc) { + super.add(vc); + GCF gcf = new GCF(gcfHeaderBuilder, vc, skipGenotypes); + try { + nbytes += gcf.write(dataOutputStream); + } catch ( IOException e ) { + throw new UserException.CouldNotCreateOutputFile(getStreamName(), "Failed to add gcf record " + gcf + " to stream " + getStreamName(), e); + } + } + + @Override + public void close() { + // todo -- write out VCF header lines + GCFHeader gcfHeader = gcfHeaderBuilder.createHeader(); + try { + long headerPosition = nbytes; + nbytes += gcfHeader.writeFooter(dataOutputStream); + dataOutputStream.close(); + //System.out.println("Writing forward reference to " + headerPosition); + + RandomAccessFile raFile = new RandomAccessFile(location, "rw"); + raFile.seek(GCFHeader.HEADER_FORWARD_REFERENCE_OFFSET); + raFile.writeLong(headerPosition); + raFile.close(); + } catch ( IOException e ) { + throw new ReviewedStingException("Failed to close GCFWriter " + getStreamName(), e); + } + + super.close(); + } + + private static final DataOutputStream createDataOutputStream(final OutputStream stream) { + return new DataOutputStream(new BufferedOutputStream(stream, GCF.BUFFER_SIZE)); + } + +} diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java b/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java index 62bbb0307..5d3ef3086 100644 --- a/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java @@ -118,31 +118,40 @@ public class ReadUtils { /** * This enum represents all the different ways in which a read can overlap an interval. * - * NO_OVERLAP: + * NO_OVERLAP_CONTIG: + * read and interval are in different contigs. + * + * NO_OVERLAP_LEFT: + * the read does not overlap the interval. + * + * |----------------| (interval) + * <----------------> (read) + * + * NO_OVERLAP_RIGHT: * the read does not overlap the interval. * * |----------------| (interval) * <----------------> (read) * - * LEFT_OVERLAP: + * OVERLAP_LEFT: * the read starts before the beginning of the interval but ends inside of it * * |----------------| (interval) * <----------------> (read) * - * RIGHT_OVERLAP: + * OVERLAP_RIGHT: * the read starts inside the interval but ends outside of it * * |----------------| (interval) * <----------------> (read) * - * FULL_OVERLAP: + * OVERLAP_LEFT_AND_RIGHT: * the read starts before the interval and ends after the interval * * |-----------| (interval) * <-------------------> (read) * - * CONTAINED: + * OVERLAP_CONTAINED: * the read starts and ends inside the interval * * |----------------| (interval) @@ -658,7 +667,7 @@ public class ReadUtils { return ReadAndIntervalOverlap.OVERLAP_RIGHT; } - @Ensures({"result >= read.getUnclippedStart()", "result <= read.getUnclippedEnd()"}) + @Ensures({"result >= read.getUnclippedStart()", "result <= read.getUnclippedEnd() || readIsEntirelyInsertion(read)"}) public static int getRefCoordSoftUnclippedStart(SAMRecord read) { int start = read.getUnclippedStart(); for (CigarElement cigarElement : read.getCigar().getCigarElements()) { @@ -670,9 +679,13 @@ public class ReadUtils { return start; } - @Ensures({"result >= read.getUnclippedStart()", "result <= read.getUnclippedEnd()"}) + @Ensures({"result >= read.getUnclippedStart()", "result <= read.getUnclippedEnd() || readIsEntirelyInsertion(read)"}) public static int getRefCoordSoftUnclippedEnd(SAMRecord read) { int stop = read.getUnclippedStart(); + + if (readIsEntirelyInsertion(read)) + return stop; + int shift = 0; CigarOperator lastOperator = null; for (CigarElement cigarElement : read.getCigar().getCigarElements()) { @@ -686,6 +699,14 @@ public class ReadUtils { return (lastOperator == CigarOperator.HARD_CLIP) ? stop-1 : stop+shift-1 ; } + private static boolean readIsEntirelyInsertion(SAMRecord read) { + for (CigarElement cigarElement : read.getCigar().getCigarElements()) { + if (cigarElement.getOperator() != CigarOperator.INSERTION) + return false; + } + return true; + } + /** * Looks for a read coordinate that corresponds to the reference coordinate in the soft clipped region before * the alignment start of the read. diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/Genotype.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/Genotype.java index fdf3d97db..85d752003 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/Genotype.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/Genotype.java @@ -293,17 +293,8 @@ public class Genotype { return commonInfo.getAttribute(key, defaultValue); } - public String getAttributeAsString(String key) { return commonInfo.getAttributeAsString(key); } public String getAttributeAsString(String key, String defaultValue) { return commonInfo.getAttributeAsString(key, defaultValue); } - public int getAttributeAsInt(String key) { return commonInfo.getAttributeAsInt(key); } public int getAttributeAsInt(String key, int defaultValue) { return commonInfo.getAttributeAsInt(key, defaultValue); } - public double getAttributeAsDouble(String key) { return commonInfo.getAttributeAsDouble(key); } public double getAttributeAsDouble(String key, double defaultValue) { return commonInfo.getAttributeAsDouble(key, defaultValue); } - public boolean getAttributeAsBoolean(String key) { return commonInfo.getAttributeAsBoolean(key); } public boolean getAttributeAsBoolean(String key, boolean defaultValue) { return commonInfo.getAttributeAsBoolean(key, defaultValue); } - - public Integer getAttributeAsIntegerNoException(String key) { return commonInfo.getAttributeAsIntegerNoException(key); } - public Double getAttributeAsDoubleNoException(String key) { return commonInfo.getAttributeAsDoubleNoException(key); } - public String getAttributeAsStringNoException(String key) { return commonInfo.getAttributeAsStringNoException(key); } - public Boolean getAttributeAsBooleanNoException(String key) { return commonInfo.getAttributeAsBooleanNoException(key); } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/InferredGeneticContext.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/InferredGeneticContext.java index 3d162adb0..bf16cd1cf 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/InferredGeneticContext.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/InferredGeneticContext.java @@ -1,6 +1,8 @@ package org.broadinstitute.sting.utils.variantcontext; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; + import java.util.*; @@ -204,27 +206,40 @@ public final class InferredGeneticContext { return defaultValue; } -// public AttributedObject getAttributes(Collection keys) { -// AttributedObject selected = new AttributedObject(); -// -// for ( Object key : keys ) -// selected.putAttribute(key, this.getAttribute(key)); -// -// return selected; -// } + public String getAttributeAsString(String key, String defaultValue) { + Object x = getAttribute(key); + if ( x == null ) return defaultValue; + if ( x instanceof String ) return (String)x; + return String.valueOf(x); // throws an exception if this isn't a string + } - public String getAttributeAsString(String key) { return (String.valueOf(getAttribute(key))); } // **NOTE**: will turn a null Object into the String "null" - public int getAttributeAsInt(String key) { Object x = getAttribute(key); return x instanceof Integer ? (Integer)x : Integer.valueOf((String)x); } - public double getAttributeAsDouble(String key) { Object x = getAttribute(key); return x instanceof Double ? (Double)x : Double.valueOf((String)x); } - public boolean getAttributeAsBoolean(String key) { Object x = getAttribute(key); return x instanceof Boolean ? (Boolean)x : Boolean.valueOf((String)x); } + public int getAttributeAsInt(String key, int defaultValue) { + Object x = getAttribute(key); + if ( x == null || x == VCFConstants.MISSING_VALUE_v4 ) return defaultValue; + if ( x instanceof Integer ) return (Integer)x; + return Integer.valueOf((String)x); // throws an exception if this isn't a string + } - public String getAttributeAsString(String key, String defaultValue) { return (String)getAttribute(key, defaultValue); } - public int getAttributeAsInt(String key, int defaultValue) { return (Integer)getAttribute(key, defaultValue); } - public double getAttributeAsDouble(String key, double defaultValue) { return (Double)getAttribute(key, defaultValue); } - public boolean getAttributeAsBoolean(String key, boolean defaultValue){ return (Boolean)getAttribute(key, defaultValue); } + public double getAttributeAsDouble(String key, double defaultValue) { + Object x = getAttribute(key); + if ( x == null ) return defaultValue; + if ( x instanceof Double ) return (Double)x; + return Double.valueOf((String)x); // throws an exception if this isn't a string + } - public Integer getAttributeAsIntegerNoException(String key) { try {return getAttributeAsInt(key);} catch (Exception e) {return null;} } - public Double getAttributeAsDoubleNoException(String key) { try {return getAttributeAsDouble(key);} catch (Exception e) {return null;} } - public String getAttributeAsStringNoException(String key) { if (getAttribute(key) == null) return null; return getAttributeAsString(key); } - public Boolean getAttributeAsBooleanNoException(String key) { try {return getAttributeAsBoolean(key);} catch (Exception e) {return null;} } + public boolean getAttributeAsBoolean(String key, boolean defaultValue) { + Object x = getAttribute(key); + if ( x == null ) return defaultValue; + if ( x instanceof Boolean ) return (Boolean)x; + return Boolean.valueOf((String)x); // throws an exception if this isn't a string + } + +// public String getAttributeAsString(String key) { return (String.valueOf(getAttribute(key))); } // **NOTE**: will turn a null Object into the String "null" +// public int getAttributeAsInt(String key) { Object x = getAttribute(key); return x instanceof Integer ? (Integer)x : Integer.valueOf((String)x); } +// public double getAttributeAsDouble(String key) { Object x = getAttribute(key); return x instanceof Double ? (Double)x : Double.valueOf((String)x); } +// public boolean getAttributeAsBoolean(String key) { Object x = getAttribute(key); return x instanceof Boolean ? (Boolean)x : Boolean.valueOf((String)x); } +// public Integer getAttributeAsIntegerNoException(String key) { try {return getAttributeAsInt(key);} catch (Exception e) {return null;} } +// public Double getAttributeAsDoubleNoException(String key) { try {return getAttributeAsDouble(key);} catch (Exception e) {return null;} } +// public String getAttributeAsStringNoException(String key) { if (getAttribute(key) == null) return null; return getAttributeAsString(key); } +// public Boolean getAttributeAsBooleanNoException(String key) { try {return getAttributeAsBoolean(key);} catch (Exception e) {return null;} } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java index cfd59b504..c1623d2cb 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java @@ -666,21 +666,11 @@ public class VariantContext implements Feature { // to enable tribble intergrati return commonInfo.getAttribute(key, defaultValue); } - public String getAttributeAsString(String key) { return commonInfo.getAttributeAsString(key); } public String getAttributeAsString(String key, String defaultValue) { return commonInfo.getAttributeAsString(key, defaultValue); } - public int getAttributeAsInt(String key) { return commonInfo.getAttributeAsInt(key); } public int getAttributeAsInt(String key, int defaultValue) { return commonInfo.getAttributeAsInt(key, defaultValue); } - public double getAttributeAsDouble(String key) { return commonInfo.getAttributeAsDouble(key); } public double getAttributeAsDouble(String key, double defaultValue) { return commonInfo.getAttributeAsDouble(key, defaultValue); } - public boolean getAttributeAsBoolean(String key) { return commonInfo.getAttributeAsBoolean(key); } public boolean getAttributeAsBoolean(String key, boolean defaultValue) { return commonInfo.getAttributeAsBoolean(key, defaultValue); } - public Integer getAttributeAsIntegerNoException(String key) { return commonInfo.getAttributeAsIntegerNoException(key); } - public Double getAttributeAsDoubleNoException(String key) { return commonInfo.getAttributeAsDoubleNoException(key); } - public String getAttributeAsStringNoException(String key) { return commonInfo.getAttributeAsStringNoException(key); } - public Boolean getAttributeAsBooleanNoException(String key) { return commonInfo.getAttributeAsBooleanNoException(key); } - - // --------------------------------------------------------------------------------------------------------- // // Working with alleles diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextUtils.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextUtils.java index 506bb3b33..ca9c71eba 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextUtils.java @@ -316,19 +316,22 @@ public class VariantContextUtils { return pruneVariantContext(vc, null); } - public static VariantContext pruneVariantContext(VariantContext vc, Collection keysToPreserve ) { - MutableVariantContext mvc = new MutableVariantContext(vc); + public static VariantContext pruneVariantContext(final VariantContext vc, final Collection keysToPreserve ) { + final MutableVariantContext mvc = new MutableVariantContext(vc); if ( keysToPreserve == null || keysToPreserve.size() == 0 ) mvc.clearAttributes(); else { - Map d = mvc.getAttributes(); + final Map d = mvc.getAttributes(); mvc.clearAttributes(); for ( String key : keysToPreserve ) if ( d.containsKey(key) ) mvc.putAttribute(key, d.get(key)); } + // this must be done as the ID is stored in the attributes field + if ( vc.hasID() ) mvc.setID(vc.getID()); + Collection gs = mvc.getGenotypes().values(); mvc.clearGenotypes(); for ( Genotype g : gs ) { @@ -443,34 +446,6 @@ public class VariantContextUtils { throw new ReviewedStingException(String.format("Couldn't find master VCF %s at %s", masterName, unsortedVCs.iterator().next())); } - - public static VariantContext simpleMerge(GenomeLocParser genomeLocParser, Collection unsortedVCs, byte refBase) { - return simpleMerge(genomeLocParser, unsortedVCs, null, FilteredRecordMergeType.KEEP_IF_ANY_UNFILTERED, GenotypeMergeType.UNSORTED, false, false, refBase); - } - - - /** - * Merges VariantContexts into a single hybrid. Takes genotypes for common samples in priority order, if provided. - * If uniqifySamples is true, the priority order is ignored and names are created by concatenating the VC name with - * the sample name - * - * @param genomeLocParser loc parser - * @param unsortedVCs collection of unsorted VCs - * @param priorityListOfVCs priority list detailing the order in which we should grab the VCs - * @param filteredRecordMergeType merge type for filtered records - * @param genotypeMergeOptions merge option for genotypes - * @param annotateOrigin should we annotate the set it came from? - * @param printMessages should we print messages? - * @param inputRefBase the ref base - * @return new VariantContext - */ - public static VariantContext simpleMerge(GenomeLocParser genomeLocParser, Collection unsortedVCs, List priorityListOfVCs, - FilteredRecordMergeType filteredRecordMergeType, GenotypeMergeType genotypeMergeOptions, - boolean annotateOrigin, boolean printMessages, byte inputRefBase ) { - - return simpleMerge(genomeLocParser, unsortedVCs, priorityListOfVCs, filteredRecordMergeType, genotypeMergeOptions, annotateOrigin, printMessages, "set", false, false); - } - /** * Merges VariantContexts into a single hybrid. Takes genotypes for common samples in priority order, if provided. * If uniqifySamples is true, the priority order is ignored and names are created by concatenating the VC name with @@ -486,12 +461,18 @@ public class VariantContextUtils { * @param setKey the key name of the set * @param filteredAreUncalled are filtered records uncalled? * @param mergeInfoWithMaxAC should we merge in info from the VC with maximum allele count? - * @return new VariantContext + * @return new VariantContext representing the merge of unsortedVCs */ - public static VariantContext simpleMerge(GenomeLocParser genomeLocParser, Collection unsortedVCs, List priorityListOfVCs, - FilteredRecordMergeType filteredRecordMergeType, GenotypeMergeType genotypeMergeOptions, - boolean annotateOrigin, boolean printMessages, String setKey, - boolean filteredAreUncalled, boolean mergeInfoWithMaxAC ) { + public static VariantContext simpleMerge(final GenomeLocParser genomeLocParser, + final Collection unsortedVCs, + final List priorityListOfVCs, + final FilteredRecordMergeType filteredRecordMergeType, + final GenotypeMergeType genotypeMergeOptions, + final boolean annotateOrigin, + final boolean printMessages, + final String setKey, + final boolean filteredAreUncalled, + final boolean mergeInfoWithMaxAC ) { if ( unsortedVCs == null || unsortedVCs.size() == 0 ) return null; @@ -514,26 +495,28 @@ public class VariantContextUtils { return null; // establish the baseline info from the first VC - VariantContext first = VCs.get(0); - String name = first.getSource(); - GenomeLoc loc = getLocation(genomeLocParser,first); + final VariantContext first = VCs.get(0); + final String name = first.getSource(); + final Allele refAllele = determineReferenceAllele(VCs); - Set alleles = new TreeSet(); - Map genotypes = new TreeMap(); - double negLog10PError = -1; - Set filters = new TreeSet(); - Map attributes = new TreeMap(); - Set inconsistentAttributes = new HashSet(); - String rsID = null; + final Set alleles = new TreeSet(); + final Set filters = new TreeSet(); + final Map attributes = new TreeMap(); + final Set inconsistentAttributes = new HashSet(); + final Set variantSources = new HashSet(); // contains the set of sources we found in our set of VCs that are variant + final Set rsIDs = new LinkedHashSet(1); // most of the time there's one id + + GenomeLoc loc = getLocation(genomeLocParser,first); int depth = 0; int maxAC = -1; - Map attributesWithMaxAC = new TreeMap(); + final Map attributesWithMaxAC = new TreeMap(); + double negLog10PError = -1; VariantContext vcWithMaxAC = null; + Map genotypes = new TreeMap(); // counting the number of filtered and variant VCs - int nFiltered = 0, nVariant = 0; + int nFiltered = 0; - Allele refAllele = determineReferenceAllele(VCs); boolean remapped = false; // cycle through and add info from the other VCs, making sure the loc/reference matches @@ -546,7 +529,7 @@ public class VariantContextUtils { loc = getLocation(genomeLocParser,vc); // get the longest location nFiltered += vc.isFiltered() ? 1 : 0; - nVariant += vc.isVariant() ? 1 : 0; + if ( vc.isVariant() ) variantSources.add(vc.getSource()); AlleleMapper alleleMapping = resolveIncompatibleAlleles(refAllele, vc, alleles); remapped = remapped || alleleMapping.needsRemapping(); @@ -565,11 +548,10 @@ public class VariantContextUtils { // special case DP (add it up) and ID (just preserve it) // if (vc.hasAttribute(VCFConstants.DEPTH_KEY)) - depth += Integer.valueOf(vc.getAttributeAsString(VCFConstants.DEPTH_KEY)); - if (rsID == null && vc.hasID()) - rsID = vc.getID(); + depth += vc.getAttributeAsInt(VCFConstants.DEPTH_KEY, 0); + if ( vc.hasID() && ! vc.getID().equals(VCFConstants.EMPTY_ID_FIELD) ) rsIDs.add(vc.getID()); if (mergeInfoWithMaxAC && vc.hasAttribute(VCFConstants.ALLELE_COUNT_KEY)) { - String rawAlleleCounts = vc.getAttributeAsString(VCFConstants.ALLELE_COUNT_KEY); + String rawAlleleCounts = vc.getAttributeAsString(VCFConstants.ALLELE_COUNT_KEY, null); // lets see if the string contains a , separator if (rawAlleleCounts.contains(VCFConstants.INFO_FIELD_ARRAY_SEPARATOR)) { List alleleCountArray = Arrays.asList(rawAlleleCounts.substring(1, rawAlleleCounts.length() - 1).split(VCFConstants.INFO_FIELD_ARRAY_SEPARATOR)); @@ -627,17 +609,16 @@ public class VariantContextUtils { if ( filteredRecordMergeType == FilteredRecordMergeType.KEEP_IF_ANY_UNFILTERED && nFiltered != VCs.size() ) filters.clear(); - // we care about where the call came from - if ( annotateOrigin ) { + if ( annotateOrigin ) { // we care about where the call came from String setValue; - if ( nFiltered == 0 && nVariant == priorityListOfVCs.size() ) // nothing was unfiltered + if ( nFiltered == 0 && variantSources.size() == priorityListOfVCs.size() ) // nothing was unfiltered setValue = "Intersection"; else if ( nFiltered == VCs.size() ) // everything was filtered out setValue = "FilteredInAll"; - else if ( nVariant == 0 ) // everyone was reference + else if ( variantSources.isEmpty() ) // everyone was reference setValue = "ReferenceInAll"; - else { // we are filtered in some subset - List s = new ArrayList(); + else { + LinkedHashSet s = new LinkedHashSet(); for ( VariantContext vc : VCs ) if ( vc.isVariant() ) s.add( vc.isFiltered() ? "filterIn" + vc.getSource() : vc.getSource() ); @@ -652,8 +633,10 @@ public class VariantContextUtils { if ( depth > 0 ) attributes.put(VCFConstants.DEPTH_KEY, String.valueOf(depth)); - if ( rsID != null ) - attributes.put(VariantContext.ID_KEY, rsID); + + if ( ! rsIDs.isEmpty() ) { + attributes.put(VariantContext.ID_KEY, Utils.join(",", rsIDs)); + } VariantContext merged = new VariantContext(name, loc.getContig(), loc.getStart(), loc.getStop(), alleles, genotypes, negLog10PError, filters, (mergeInfoWithMaxAC ? attributesWithMaxAC : attributes) ); // Trim the padded bases of all alleles if necessary @@ -1159,9 +1142,7 @@ public class VariantContextUtils { for (String orAttrib : MERGE_OR_ATTRIBS) { boolean attribVal = false; for (VariantContext vc : vcList) { - Boolean val = vc.getAttributeAsBooleanNoException(orAttrib); - if (val != null) - attribVal = (attribVal || val); + attribVal = vc.getAttributeAsBoolean(orAttrib, false); if (attribVal) // already true, so no reason to continue: break; } @@ -1171,7 +1152,7 @@ public class VariantContextUtils { // Merge ID fields: String iDVal = null; for (VariantContext vc : vcList) { - String val = vc.getAttributeAsStringNoException(VariantContext.ID_KEY); + String val = vc.getAttributeAsString(VariantContext.ID_KEY, null); if (val != null && !val.equals(VCFConstants.EMPTY_ID_FIELD)) { if (iDVal == null) iDVal = val; @@ -1251,8 +1232,10 @@ public class VariantContextUtils { public PhaseAndQuality(Genotype gt) { this.isPhased = gt.isPhased(); - if (this.isPhased) - this.PQ = gt.getAttributeAsDoubleNoException(ReadBackedPhasingWalker.PQ_KEY); + if (this.isPhased) { + this.PQ = gt.getAttributeAsDouble(ReadBackedPhasingWalker.PQ_KEY, -1); + if ( this.PQ == -1 ) this.PQ = null; + } } } diff --git a/public/java/test/org/broadinstitute/sting/WalkerTest.java b/public/java/test/org/broadinstitute/sting/WalkerTest.java index 386c17659..a1817e3c7 100755 --- a/public/java/test/org/broadinstitute/sting/WalkerTest.java +++ b/public/java/test/org/broadinstitute/sting/WalkerTest.java @@ -75,7 +75,7 @@ public class WalkerTest extends BaseTest { Index indexFromOutputFile = IndexFactory.createIndex(resultFile, new VCFCodec()); Index dynamicIndex = IndexFactory.loadIndex(indexFile.getAbsolutePath()); - if ( ! indexFromOutputFile.equalsIgnoreTimestamp(dynamicIndex) ) { + if ( ! indexFromOutputFile.equalsIgnoreProperties(dynamicIndex) ) { Assert.fail(String.format("Index on disk from indexing on the fly not equal to the index created after the run completed. FileIndex %s vs. on-the-fly %s%n", indexFromOutputFile.getProperties(), dynamicIndex.getProperties())); diff --git a/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManagerUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManagerUnitTest.java index bae8e99ed..e8799e2ab 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManagerUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManagerUnitTest.java @@ -56,6 +56,7 @@ public class FeatureManagerUnitTest extends BaseTest { private static final File VCF3_FILE = new File(validationDataLocation + "vcfexample3.vcf"); private static final File VCF4_FILE = new File(testDir + "HiSeq.10000.vcf"); private static final File VCF4_FILE_GZ = new File(testDir + "HiSeq.10000.vcf.gz"); + private static final File VCF4_FILE_BGZIP = new File(testDir + "HiSeq.10000.bgzip.vcf.gz"); private FeatureManager manager; private GenomeLocParser genomeLocParser; @@ -109,6 +110,7 @@ public class FeatureManagerUnitTest extends BaseTest { new FMTest(VariantContext.class, VCF3Codec.class, "VCF3", VCF3_FILE); new FMTest(VariantContext.class, VCFCodec.class, "VCF", VCF4_FILE); new FMTest(VariantContext.class, VCFCodec.class, "VCF", VCF4_FILE_GZ); + new FMTest(VariantContext.class, VCFCodec.class, "VCF", VCF4_FILE_BGZIP); new FMTest(TableFeature.class, BedTableCodec.class, "bedtable", null); return FMTest.getTests(FMTest.class); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilderUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilderUnitTest.java index ae218e898..724c343e4 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilderUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilderUnitTest.java @@ -29,7 +29,6 @@ import net.sf.picard.reference.IndexedFastaSequenceFile; import net.sf.samtools.SAMSequenceDictionary; import org.broad.tribble.Tribble; import org.broad.tribble.index.Index; -import org.broadinstitute.sting.gatk.refdata.tracks.RMDTrackBuilder; import org.broadinstitute.sting.utils.codecs.vcf.VCF3Codec; import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -45,7 +44,6 @@ import org.testng.annotations.Test; import java.io.*; import java.nio.channels.FileChannel; -import java.util.Map; /** @@ -164,7 +162,7 @@ public class RMDTrackBuilderUnitTest extends BaseTest { try { Index idx = builder.loadIndex(vcfFile, new VCFCodec()); // catch any exception; this call should pass correctly - SAMSequenceDictionary dict = RMDTrackBuilder.getSequenceDictionaryFromProperties(idx); + SAMSequenceDictionary dict = IndexDictionaryUtils.getSequenceDictionaryFromProperties(idx); } catch (IOException e) { e.printStackTrace(); Assert.fail("IO exception unexpected" + e.getMessage()); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java index 08baae7a7..2c06c6b7f 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java @@ -134,7 +134,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest { validationDataLocation + "1kg_exomes_unfiltered.AFR.unfiltered.vcf --snpEffFile " + validationDataLocation + "snpEff.AFR.unfiltered.vcf -L 1:1-1,500,000", 1, - Arrays.asList("486fc6a5ca1819f5ab180d5d72b1ebc9") + Arrays.asList("ed9d1b37b0bd8b65ff9ce2688e0e102e") ); executeTest("Testing SnpEff annotations", spec); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsIntegrationTest.java index 35495d797..ac5a87a1f 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsIntegrationTest.java @@ -96,8 +96,8 @@ public class CombineVariantsIntegrationTest extends WalkerTest { @Test public void uniqueSNPs() { combine2("pilot2.snps.vcf4.genotypes.vcf", "yri.trio.gatk_glftrio.intersection.annotated.filtered.chr1.vcf", "", "89f55abea8f59e39d1effb908440548c"); } - @Test public void omniHM3Union() { combineSites(" -filteredRecordsMergeType KEEP_IF_ANY_UNFILTERED", "4836086891f6cbdd40eebef3076d215a"); } - @Test public void omniHM3Intersect() { combineSites(" -filteredRecordsMergeType KEEP_IF_ALL_UNFILTERED", "6a34b5d743efda8b2f3b639f3a2f5de8"); } + @Test public void omniHM3Union() { combineSites(" -filteredRecordsMergeType KEEP_IF_ANY_UNFILTERED", "c6adeda751cb2a08690dd9202356629f"); } + @Test public void omniHM3Intersect() { combineSites(" -filteredRecordsMergeType KEEP_IF_ALL_UNFILTERED", "3a08fd5ee18993dfc8882156ccf5d2e9"); } @Test public void threeWayWithRefs() { WalkerTestSpec spec = new WalkerTestSpec( @@ -131,4 +131,13 @@ public class CombineVariantsIntegrationTest extends WalkerTest { @Test public void complexTestMinimal() { combineComplexSites(" -minimalVCF", "df96cb3beb2dbb5e02f80abec7d3571e"); } @Test public void complexTestSitesOnly() { combineComplexSites(" -sites_only", "f704caeaaaed6711943014b847fe381a"); } @Test public void complexTestSitesOnlyMinimal() { combineComplexSites(" -sites_only -minimalVCF", "f704caeaaaed6711943014b847fe381a"); } + + @Test + public void combineDBSNPDuplicateSites() { + WalkerTestSpec spec = new WalkerTestSpec( + "-T CombineVariants -NO_HEADER -L 1:902000-903000 -o %s -R " + b37KGReference + " -V:v1 " + b37dbSNP132, + 1, + Arrays.asList("")); + executeTest("combineDBSNPDuplicateSites:", spec); + } } \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/utils/baq/BAQUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/baq/BAQUnitTest.java index 2e4dac6da..67943ccb4 100644 --- a/public/java/test/org/broadinstitute/sting/utils/baq/BAQUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/baq/BAQUnitTest.java @@ -172,6 +172,17 @@ public class BAQUnitTest extends BaseTest { } } + @Test(enabled = true) + public void testBAQQualRange() { + BAQ baq = new BAQ(1e-3, 0.1, 7, (byte)4, false); // matches current samtools parameters + final byte ref = (byte)'A'; + final byte alt = (byte)'A'; + + for ( int i = 0; i <= SAMUtils.MAX_PHRED_SCORE; i++ ) + Assert.assertTrue(baq.calcEpsilon( ref, alt, (byte)i) >= 0.0, "Failed to get baq epsilon range"); + } + + public void testBAQ(BAQTest test, boolean lookupWithFasta) { BAQ baqHMM = new BAQ(1e-3, 0.1, 7, (byte)4, false); // matches current samtools parameters diff --git a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/IndexFactoryUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/IndexFactoryUnitTest.java index d08cda949..55bd4783b 100755 --- a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/IndexFactoryUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/IndexFactoryUnitTest.java @@ -1,53 +1,43 @@ package org.broadinstitute.sting.utils.codecs.vcf; +import net.sf.samtools.SAMSequenceDictionary; import org.broad.tribble.Tribble; import org.broad.tribble.index.*; import org.broad.tribble.iterators.CloseableTribbleIterator; import org.broad.tribble.source.BasicFeatureSource; +import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.WalkerTest; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.testng.Assert; +import org.testng.annotations.BeforeTest; import org.testng.annotations.Test; import java.io.File; +import java.io.FileNotFoundException; import java.io.IOException; import java.util.*; /** * tests out the various functions in the index factory class */ -public class IndexFactoryUnitTest { +public class IndexFactoryUnitTest extends BaseTest { File inputFile = new File("public/testdata/HiSeq.10000.vcf"); File outputFile = new File("public/testdata/onTheFlyOutputTest.vcf"); File outputFileIndex = Tribble.indexFile(outputFile); - /** - * test out scoring the indexes - */ - @Test - public void testScoreIndexes() { - /*// make a list of indexes to score - Map creators = new HashMap(); - // add a linear index with the default bin size - LinearIndexCreator linearNormal = new LinearIndexCreator(); - linearNormal.initialize(inputFile, linearNormal.defaultBinSize()); - creators.add(LInearIndexlinearNormal); + private SAMSequenceDictionary dict; - // create a tree index with a small index size - IntervalIndexCreator treeSmallBin = new IntervalIndexCreator(); - treeSmallBin.initialize(inputFile, Math.max(200,treeSmallBin.defaultBinSize()/10)); - creators.add(treeSmallBin); - - List indexes = new ArrayList(); - for (IndexCreator creator : creators) - indexes.add(creator.finalizeIndex(0)); - - ArrayList scores = IndexFactory.scoreIndexes(0.5,indexes,100, IndexFactory.IndexBalanceApproach.FOR_SEEK_TIME); - System.err.println("scores are : "); - for (Double score : scores) { - System.err.println(score); -*/ + @BeforeTest + public void setup() { + try { + dict = new CachingIndexedFastaSequenceFile(new File(b37KGReference)).getSequenceDictionary(); + } + catch(FileNotFoundException ex) { + throw new UserException.CouldNotReadInputFile(b37KGReference,ex); + } } // @@ -65,7 +55,7 @@ public class IndexFactoryUnitTest { BasicFeatureSource source = new BasicFeatureSource(inputFile.getAbsolutePath(), indexFromInputFile, new VCFCodec()); int counter = 0; - VCFWriter writer = new StandardVCFWriter(outputFile); + VCFWriter writer = new StandardVCFWriter(outputFile, dict); writer.writeHeader((VCFHeader)source.getHeader()); CloseableTribbleIterator it = source.iterator(); while (it.hasNext() && (counter++ < maxRecords || maxRecords == -1) ) { diff --git a/public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFWriterUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFWriterUnitTest.java index e3a926fb9..a8e6593b1 100644 --- a/public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFWriterUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFWriterUnitTest.java @@ -38,12 +38,13 @@ public class VCFWriterUnitTest extends BaseTest { private Set additionalColumns = new HashSet(); private File fakeVCFFile = new File("FAKEVCFFILEFORTESTING.vcf"); private GenomeLocParser genomeLocParser; + private IndexedFastaSequenceFile seq; @BeforeClass public void beforeTests() { File referenceFile = new File(hg18Reference); try { - IndexedFastaSequenceFile seq = new CachingIndexedFastaSequenceFile(referenceFile); + seq = new CachingIndexedFastaSequenceFile(referenceFile); genomeLocParser = new GenomeLocParser(seq); } catch(FileNotFoundException ex) { @@ -55,7 +56,7 @@ public class VCFWriterUnitTest extends BaseTest { @Test public void testBasicWriteAndRead() { VCFHeader header = createFakeHeader(metaData,additionalColumns); - VCFWriter writer = new StandardVCFWriter(fakeVCFFile); + VCFWriter writer = new StandardVCFWriter(fakeVCFFile, seq.getSequenceDictionary()); writer.writeHeader(header); writer.add(createVC(header)); writer.add(createVC(header)); diff --git a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/GATKResourcesBundle.scala b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/GATKResourcesBundle.scala index 59c00b8cd..036a77b58 100755 --- a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/GATKResourcesBundle.scala +++ b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/GATKResourcesBundle.scala @@ -131,11 +131,11 @@ class GATKResourcesBundle extends QScript { addResource(new Resource("/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/HapMap/3.3/genotypes_r27_nr.b37_fwd.vcf", "hapmap_3.3", b37, true, true)) - addResource(new Resource("/humgen/gsa-hpprojects/GATK/data/Comparisons/Unvalidated/AFR+EUR+ASN+1KG.dindel_august_release_merged_pilot1.20110126.sites.vcf", - "1000G_indels_for_realignment", b37, true, false)) + addResource(new Resource("/humgen/1kg/processing/official_release/phase1/ALL.wgs.VQSR_consensus_biallelic.20101123.indels.sites.vcf", + "1000G_biallelic.indels", b37, true, false)) addResource(new Resource("/humgen/gsa-hpprojects/GATK/data/Comparisons/Validated/Mills_Devine_Indels_2011/ALL.wgs.indels_mills_devine_hg19_leftAligned_collapsed_double_hit.sites.vcf", - "indels_mills_devine", b37, true, true)) + "Mills_Devine_2hit.indels", b37, true, true)) // // example call set for wiki tutorial @@ -300,9 +300,9 @@ class GATKResourcesBundle extends QScript { bamFile = bamIn } - class IndexVCF(@Input vcf: File, @Input ref: File) extends CountRod with UNIVERSAL_GATK_ARGS { + class IndexVCF(@Input vcf: File, @Input ref: File) extends CountRODs with UNIVERSAL_GATK_ARGS { //@Output val vcfIndex: File = swapExt(vcf.getParent, vcf, ".vcf", ".vcf.idx") - this.rodBind :+= RodBind(vcf.getName, "VCF", vcf) + this.rod :+= vcf this.reference_sequence = ref } @@ -313,7 +313,7 @@ class GATKResourcesBundle extends QScript { } class MakeDBSNP129(@Input dbsnp: File, @Input ref: File, @Output dbsnp129: File) extends SelectVariants with UNIVERSAL_GATK_ARGS { - this.rodBind :+= RodBind("variant", "VCF", dbsnp) + this.variant = dbsnp this.select ++= List("\"dbSNPBuildID <= 129\"") this.reference_sequence = ref this.out = dbsnp129 diff --git a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/MethodsDevelopmentCallingPipeline.scala b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/MethodsDevelopmentCallingPipeline.scala index 109139d20..29ee2769b 100755 --- a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/MethodsDevelopmentCallingPipeline.scala +++ b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/MethodsDevelopmentCallingPipeline.scala @@ -98,40 +98,52 @@ class MethodsDevelopmentCallingPipeline extends QScript { // BUGBUG: We no longer support b36/hg18 because several of the necessary files aren't available aligned to those references val targetDataSets: Map[String, Target] = Map( - "HiSeq" -> new Target("NA12878.HiSeq", hg18, dbSNP_hg18_129, hapmap_hg18, + "NA12878_wgs_b37" -> new Target("NA12878.HiSeq.WGS.b37", hg19, dbSNP_b37, hapmap_b37, indelMask_b37, + new File("/humgen/gsa-hpprojects/NA12878Collection/bams/NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.bam"), + new File("/humgen/gsa-hpprojects/dev/carneiro/hiseq19/analysis/snps/NA12878.HiSeq19.filtered.vcf"), + "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.noChrY.hg19.intervals", 2.14, 99.0, !lowPass, !exome, 1), + "NA12878_wgs_decoy" -> new Target("NA12878.HiSeq.WGS.b37_decoy", b37_decoy, dbSNP_b37, hapmap_b37, indelMask_b37, + new File("/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WGS.b37_decoy.NA12878.clean.dedup.recal.bam"), + new File("/humgen/gsa-hpprojects/dev/carneiro/hiseq19/analysis/snps/NA12878.HiSeq19.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** + "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.noChrY.hg19.intervals", 2.14, 99.0, !lowPass, !exome, 1), + "NA12878_wgs_hg18" -> new Target("NA12878.HiSeq.WGS.hg18", hg18, dbSNP_hg18_129, hapmap_hg18, "/humgen/gsa-hpprojects/dev/depristo/oneOffProjects/1000GenomesProcessingPaper/wgs.v13/HiSeq.WGS.cleaned.indels.10.mask", new File("/humgen/gsa-hpprojects/NA12878Collection/bams/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam"), new File("/home/radon01/depristo/work/oneOffProjects/1000GenomesProcessingPaper/wgs.v13/HiSeq.WGS.cleaned.ug.snpfiltered.indelfiltered.vcf"), "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.hg18.intervals", 2.14, 99.0, !lowPass, !exome, 1), - "HiSeq19" -> new Target("NA12878.HiSeq19", hg19, dbSNP_b37, hapmap_b37, indelMask_b37, - new File("/humgen/gsa-hpprojects/NA12878Collection/bams/NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.bam"), - new File("/humgen/gsa-hpprojects/dev/carneiro/hiseq19/analysis/snps/NA12878.HiSeq19.filtered.vcf"), - "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.noChrY.hg19.intervals", 2.14, 99.0, !lowPass, !exome, 1), - "GA2hg19" -> new Target("NA12878.GA2.hg19", hg19, dbSNP_b37, hapmap_b37, indelMask_b37, - new File("/humgen/gsa-hpprojects/NA12878Collection/bams/NA12878.GA2.WGS.bwa.cleaned.hg19.bam"), - new File("/humgen/gsa-hpprojects/dev/carneiro/hiseq19/analysis/snps/NA12878.GA2.hg19.filtered.vcf"), - "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.hg19.intervals", 2.14, 99.0, !lowPass, !exome, 1), - "WEx" -> new Target("NA12878.WEx", hg18, dbSNP_hg18_129, hapmap_hg18, + "NA12878_wex_b37" -> new Target("NA12878.HiSeq.WEx.b37", hg19, dbSNP_b37, hapmap_b37, indelMask_b37, + new File("/seq/picard_aggregation/C339/NA12878/v3/NA12878.bam"), + new File("/humgen/gsa-hpprojects/dev/carneiro/trio/analysis/snps/CEUTrio.WEx.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** + "/seq/references/HybSelOligos/whole_exome_agilent_1.1_refseq_plus_3_boosters/whole_exome_agilent_1.1_refseq_plus_3_boosters.Homo_sapiens_assembly19.targets.interval_list", 3.3, 98.0, !lowPass, exome, 1), + "NA12878_wex_hg18" -> new Target("NA12878.HiSeq.WEx.hg18", hg18, dbSNP_hg18_129, hapmap_hg18, "/humgen/gsa-hpprojects/dev/depristo/oneOffProjects/1000GenomesProcessingPaper/wgs.v13/GA2.WEx.cleaned.indels.10.mask", new File("/humgen/gsa-hpprojects/NA12878Collection/bams/NA12878.WEx.cleaned.recal.bam"), new File("/home/radon01/depristo/work/oneOffProjects/1000GenomesProcessingPaper/wgs.v13/GA2.WEx.cleaned.ug.snpfiltered.indelfiltered.vcf"), "/seq/references/HybSelOligos/whole_exome_agilent_1.1_refseq_plus_3_boosters/whole_exome_agilent_1.1_refseq_plus_3_boosters.targets.interval_list", 3.3, 98.0, !lowPass, exome, 1), - "WExTrio" -> new Target("CEUTrio.WEx", hg19, dbSNP_b37, hapmap_b37, indelMask_b37, + "NA12878_wex_decoy" -> new Target("NA12878.HiSeq.WEx.b37_decoy", b37_decoy, dbSNP_b37, hapmap_b37, indelMask_b37, + new File("/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WEx.b37_decoy.NA12878.clean.dedup.recal.bam"), + new File("/humgen/gsa-hpprojects/dev/carneiro/trio/analysis/snps/CEUTrio.WEx.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** + "/seq/references/HybSelOligos/whole_exome_agilent_1.1_refseq_plus_3_boosters/whole_exome_agilent_1.1_refseq_plus_3_boosters.Homo_sapiens_assembly19.targets.interval_list", 3.3, 98.0, !lowPass, exome, 1), + "CEUTrio_wex_b37" -> new Target("CEUTrio.HiSeq.WEx.b37", hg19, dbSNP_b37, hapmap_b37, indelMask_b37, new File("/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WEx.bwa.cleaned.recal.bam"), new File("/humgen/gsa-hpprojects/dev/carneiro/trio/analysis/snps/CEUTrio.WEx.filtered.vcf"), "/seq/references/HybSelOligos/whole_exome_agilent_1.1_refseq_plus_3_boosters/whole_exome_agilent_1.1_refseq_plus_3_boosters.Homo_sapiens_assembly19.targets.interval_list", 3.3, 98.0, !lowPass, exome, 3), - "WGSTrio" -> new Target("CEUTrio.WGS", hg19, dbSNP_b37, hapmap_b37, indelMask_b37, + "CEUTrio_wgs_b37" -> new Target("CEUTrio.HiSeq.WGS.b37", hg19, dbSNP_b37, hapmap_b37, indelMask_b37, new File("/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WGS.bwa.cleaned.recal.bam"), new File("/humgen/gsa-hpprojects/dev/carneiro/trio/analysis/snps/CEUTrio.WEx.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.hg19.intervals", 2.3, 99.0, !lowPass, !exome, 3), - "WExTrioDecoy" -> new Target("CEUTrio.HiSeq.WEx.b37_decoy", b37_decoy, dbSNP_b37, hapmap_b37, indelMask_b37, + "CEUTrio_wex_decoy" -> new Target("CEUTrio.HiSeq.WEx.b37_decoy", b37_decoy, dbSNP_b37, hapmap_b37, indelMask_b37, new File("/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WEx.b37_decoy.list"), new File("/humgen/gsa-hpprojects/dev/carneiro/trio/analysis/snps/CEUTrio.WEx.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** "/seq/references/HybSelOligos/whole_exome_agilent_1.1_refseq_plus_3_boosters/whole_exome_agilent_1.1_refseq_plus_3_boosters.Homo_sapiens_assembly19.targets.interval_list", 3.3, 98.0, !lowPass, exome, 3), - "WGSTrioDecoy" -> new Target("CEUTrio.HiSeq.WGS.b37_decoy", b37_decoy, dbSNP_b37, hapmap_b37, indelMask_b37, + "CEUTrio_wgs_decoy" -> new Target("CEUTrio.HiSeq.WGS.b37_decoy", b37_decoy, dbSNP_b37, hapmap_b37, indelMask_b37, new File("/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WGS.b37_decoy.list"), new File("/humgen/gsa-hpprojects/dev/carneiro/trio/analysis/snps/CEUTrio.WEx.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.hg19.intervals", 2.3, 99.0, !lowPass, !exome, 3), + "GA2hg19" -> new Target("NA12878.GA2.hg19", hg19, dbSNP_b37, hapmap_b37, indelMask_b37, + new File("/humgen/gsa-hpprojects/NA12878Collection/bams/NA12878.GA2.WGS.bwa.cleaned.hg19.bam"), + new File("/humgen/gsa-hpprojects/dev/carneiro/hiseq19/analysis/snps/NA12878.GA2.hg19.filtered.vcf"), + "/humgen/1kg/processing/pipeline_test_bams/whole_genome_chunked.hg19.intervals", 2.14, 99.0, !lowPass, !exome, 1), "FIN" -> new Target("FIN", b37, dbSNP_b37, hapmap_b37, indelMask_b37, new File("/humgen/1kg/processing/pipeline_test_bams/FIN.79sample.Nov2010.chr20.bam"), new File("/humgen/gsa-hpprojects/dev/data/AugChr20Calls_v4_3state/ALL.august.v4.chr20.filtered.vcf"), // ** THIS GOLD STANDARD NEEDS TO BE CORRECTED ** diff --git a/public/testdata/HiSeq.10000.bgzip.vcf.gz b/public/testdata/HiSeq.10000.bgzip.vcf.gz new file mode 100644 index 000000000..3f2b9bf14 Binary files /dev/null and b/public/testdata/HiSeq.10000.bgzip.vcf.gz differ diff --git a/settings/repository/org.broad/tribble-24.jar b/settings/repository/org.broad/tribble-25.jar similarity index 91% rename from settings/repository/org.broad/tribble-24.jar rename to settings/repository/org.broad/tribble-25.jar index b1c39e60a..e260764a5 100644 Binary files a/settings/repository/org.broad/tribble-24.jar and b/settings/repository/org.broad/tribble-25.jar differ diff --git a/settings/repository/org.broad/tribble-24.xml b/settings/repository/org.broad/tribble-25.xml similarity index 51% rename from settings/repository/org.broad/tribble-24.xml rename to settings/repository/org.broad/tribble-25.xml index 9b2b967f8..ed7a1fd69 100644 --- a/settings/repository/org.broad/tribble-24.xml +++ b/settings/repository/org.broad/tribble-25.xml @@ -1,3 +1,3 @@ - +