gatk-3.8/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java

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/*
* Copyright (c) 2009 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;
import net.sf.picard.reference.ReferenceSequenceFile;
import net.sf.picard.sam.SamFileHeaderMerger;
import net.sf.picard.filter.SamRecordFilter;
import net.sf.samtools.*;
import org.apache.log4j.Logger;
import org.broadinstitute.sting.gatk.datasources.simpleDataSources.SAMDataSource;
import org.broadinstitute.sting.gatk.datasources.simpleDataSources.ReferenceOrderedDataSource;
import org.broadinstitute.sting.gatk.datasources.shards.ShardStrategy;
import org.broadinstitute.sting.gatk.datasources.shards.ShardStrategyFactory;
import org.broadinstitute.sting.gatk.executive.MicroScheduler;
import org.broadinstitute.sting.gatk.refdata.ReferenceOrderedData;
import org.broadinstitute.sting.gatk.refdata.ReferenceOrderedDatum;
import org.broadinstitute.sting.gatk.walkers.*;
import org.broadinstitute.sting.gatk.filters.ZeroMappingQualityReadFilter;
import org.broadinstitute.sting.utils.*;
import org.broadinstitute.sting.utils.fasta.IndexedFastaSequenceFile;
import org.broadinstitute.sting.utils.cmdLine.ArgumentException;
import java.io.File;
import java.io.FileNotFoundException;
import java.util.*;
import java.lang.reflect.Field;
public class GenomeAnalysisEngine {
// our instance of this genome analysis toolkit; it's used by other classes to extract the traversal engine
// TODO: public static without final tends to indicate we're thinking about this the wrong way
public static GenomeAnalysisEngine instance;
/**
* Accessor for sharded read data.
*/
private SAMDataSource readsDataSource = null;
/**
* Accessor for sharded reference data.
*/
private IndexedFastaSequenceFile referenceDataSource = null;
/**
* Accessor for sharded reference-ordered data.
*/
private List<ReferenceOrderedDataSource> rodDataSources;
// our argument collection
private GATKArgumentCollection argCollection;
/** Collection of output streams used by the walker. */
private OutputTracker outputTracker = new OutputTracker();
/** our log, which we want to capture anything from this class */
private static Logger logger = Logger.getLogger(GenomeAnalysisEngine.class);
/** our walker manager */
private final WalkerManager walkerManager;
/**
* our constructor, where all the work is done
* <p/>
* legacy traversal types are sent to legacyTraversal function; as we move more of the traversals to the
* new MicroScheduler class we'll be able to delete that function.
*
*/
public GenomeAnalysisEngine() {
// make sure our instance variable points to this analysis engine
instance = this;
walkerManager = new WalkerManager();
}
/**
* Actually run the GATK with the specified walker.
* @param args the argument collection, where we get all our setup information from
* @param my_walker Walker to run over the dataset. Must not be null.
*/
public Object execute(GATKArgumentCollection args, Walker<?,?> my_walker) {
// validate our parameters
if (args == null) {
throw new StingException("The GATKArgumentCollection passed to GenomeAnalysisEngine can be null.");
}
// validate our parameters
if (my_walker == null)
throw new StingException("The walker passed to GenomeAnalysisEngine can be null.");
// save our argument parameter
this.argCollection = args;
// Prepare the data for traversal.
initializeDataSources( my_walker, argCollection );
// our microscheduler, which is in charge of running everything
MicroScheduler microScheduler = createMicroscheduler(my_walker);
// create the output streams
initializeOutputStreams(my_walker);
GenomeLocSortedSet locs = null;
if (argCollection.intervals != null) {
locs = GenomeLocSortedSet.createSetFromList(parseIntervalRegion(argCollection.intervals));
}
ShardStrategy shardStrategy = getShardStrategy(my_walker, microScheduler.getReference(), locs, argCollection.maximumEngineIterations);
// execute the microscheduler, storing the results
return microScheduler.execute(my_walker, shardStrategy, argCollection.maximumEngineIterations);
}
/**
* Add additional, externally managed IO streams for walker consumption.
* @param walkerField Field in the walker into which to inject the value.
* @param value Instance to inject.
*/
public void setAdditionalIO( Field walkerField, Object value ) {
outputTracker.addAdditionalOutput( walkerField, value );
}
/**
* Gets a set of the names of all walkers that the GATK has discovered.
* @return A set of the names of all discovered walkers.
*/
public Set<String> getWalkerNames() {
return walkerManager.getWalkerNames();
}
/**
* Retrieves an instance of the walker based on the walker name.
* @param walkerName Name of the walker. Must not be null. If the walker cannot be instantiated, an exception will be thrown.
* @return An instance of the walker.
*/
public Walker<?,?> getWalkerByName( String walkerName ) {
return walkerManager.createWalkerByName(walkerName);
}
private void initializeDataSources( Walker my_walker, GATKArgumentCollection argCollection ) {
validateSuppliedReadsAgainstWalker( my_walker, argCollection );
logger.info("Strictness is " + argCollection.strictnessLevel);
readsDataSource = createReadsDataSource(extractSourceInfo(my_walker,argCollection));
validateSuppliedReferenceAgainstWalker( my_walker, argCollection );
referenceDataSource = openReferenceSequenceFile(argCollection.referenceFile);
validateReadsAndReferenceAreCompatible(readsDataSource, referenceDataSource);
// our reference ordered data collection
List<ReferenceOrderedData<? extends ReferenceOrderedDatum>> rods = new ArrayList<ReferenceOrderedData<? extends ReferenceOrderedDatum>>();
//
// please don't use these in the future, use the new syntax <- if we're not using these please remove them
//
if (argCollection.DBSNPFile != null) bindConvenienceRods("dbSNP", "dbsnp", argCollection.DBSNPFile);
if (argCollection.HAPMAPFile != null)
bindConvenienceRods("hapmap", "HapMapAlleleFrequencies", argCollection.HAPMAPFile);
if (argCollection.HAPMAPChipFile != null)
bindConvenienceRods("hapmap-chip", "GFF", argCollection.HAPMAPChipFile);
// TODO: The ROD iterator currently does not understand multiple intervals file. Fix this by cleaning the ROD system.
if (argCollection.intervals != null && argCollection.intervals.size() == 1) {
bindConvenienceRods("interval", "Intervals", argCollection.intervals.get(0).replaceAll(",", ""));
}
// parse out the rod bindings
ReferenceOrderedData.parseBindings(argCollection.RODBindings, rods);
validateSuppliedReferenceOrderedDataAgainstWalker( my_walker, rods );
rodDataSources = getReferenceOrderedDataSources(rods);
}
/**
* setup a microscheduler
* @param my_walker our walker of type LocusWalker
* @return a new microscheduler
*/
private MicroScheduler createMicroscheduler(Walker my_walker) {
// the mircoscheduler to return
MicroScheduler microScheduler = null;
// we need to verify different parameter based on the walker type
if (my_walker instanceof LocusWalker || my_walker instanceof LocusWindowWalker) {
// create the MicroScheduler
microScheduler = MicroScheduler.create(my_walker, readsDataSource, referenceDataSource, rodDataSources, argCollection.numberOfThreads);
} else if (my_walker instanceof ReadWalker || my_walker instanceof DuplicateWalker) {
if (argCollection.referenceFile == null)
Utils.scareUser(String.format("Read-based traversals require a reference file but none was given"));
microScheduler = MicroScheduler.create(my_walker, readsDataSource, referenceDataSource, rodDataSources, argCollection.numberOfThreads);
} else {
Utils.scareUser(String.format("Unable to create the appropriate TraversalEngine for analysis type " + argCollection.analysisName));
}
return microScheduler;
}
/**
* setup the interval regions, from either the interval file of the genome region string
*
* @param intervals the list of intervals to parse
*
* @return a list of genomeLoc representing the interval file
*/
public static List<GenomeLoc> parseIntervalRegion(final List<String> intervals) {
List<GenomeLoc> locs = new ArrayList<GenomeLoc>();
for (String interval : intervals) {
if (new File(interval).exists()) {
locs.addAll(GenomeLocParser.intervalFileToList(interval));
} else {
locs.addAll(GenomeLocParser.parseGenomeLocs(interval));
}
}
return locs;
}
/**
* Returns sets of samples present in the (merged) input SAM stream, grouped by readers (i.e. underlying
* individual bam files). For instance: if GATK is run with three input bam files (three -I arguments), then the list
* returned by this method will contain 3 elements (one for each reader), with each element being a set of sample names
* found in the corresponding bam file.
* @return
*/
public List< Set<String> > getSamplesByReaders() {
SamFileHeaderMerger hm = getDataSource().getHeaderMerger();
List< Set<String> > sample_sets = new ArrayList<Set<String>>(hm.getReaders().size());
for ( SAMFileReader r : hm.getReaders() ) {
Set<String> samples = new HashSet<String>(1);
sample_sets.add(samples);
for ( SAMReadGroupRecord g : r.getFileHeader().getReadGroups() ) {
samples.add(g.getSample());
}
}
return sample_sets;
}
/**
* Returns sets of libraries present in the (merged) input SAM stream, grouped by readers (i.e. underlying
* individual bam files). For instance: if GATK is run with three input bam files (three -I arguments), then the list
* returned by this method will contain 3 elements (one for each reader), with each element being a set of library names
* found in the corresponding bam file.
* @return
*/
public List< Set<String> > getLibrariesByReaders() {
SamFileHeaderMerger hm = getDataSource().getHeaderMerger();
List< Set<String> > lib_sets = new ArrayList<Set<String>>(hm.getReaders().size());
for ( SAMFileReader r : hm.getReaders() ) {
Set<String> libs = new HashSet<String>(2);
lib_sets.add(libs);
for ( SAMReadGroupRecord g : r.getFileHeader().getReadGroups() ) {
libs.add(g.getLibrary());
}
}
return lib_sets;
}
/**
* Returns sets of (remapped) read groups in input SAM stream, grouped by readers (i.e. underlying
* individual bam files). For instance: if GATK is run with three input bam files (three -I arguments), then the list
* returned by this method will contain 3 elements (one for each reader), with each element being a set of remapped read groups
* (i.e. as seen by read.getReadGroup().getReadGroupId() in the merged stream) that come from the corresponding bam file.
* @return
*/
public List< Set<String> > getMergedReadGroupsByReaders() {
SamFileHeaderMerger hm = getDataSource().getHeaderMerger();
List< Set<String> > rg_sets = new ArrayList<Set<String>>(hm.getReaders().size());
for ( SAMFileReader r : hm.getReaders() ) {
Set<String> groups = new HashSet<String>(5);
rg_sets.add(groups);
for ( SAMReadGroupRecord g : r.getFileHeader().getReadGroups() ) {
// use HeaderMerger to translate original read group id from the reader into the read group id in the
// merged stream, and save that remapped read group id to associate it with specific reader
groups.add( hm.getReadGroupId(r, g.getReadGroupId()) );
}
}
return rg_sets;
}
/**
* Bundles all the source information about the reads into a unified data structure.
*
* @param walker The walker for which to extract info.
* @param argCollection The collection of arguments passed to the engine.
*
* @return The reads object providing reads source info.
*/
private Reads extractSourceInfo( Walker walker, GATKArgumentCollection argCollection ) {
List<SamRecordFilter> filters = new ArrayList<SamRecordFilter>();
filters.addAll( WalkerManager.getReadFilters(walker) );
if( argCollection.filterZeroMappingQualityReads != null && argCollection.filterZeroMappingQualityReads )
filters.add( new ZeroMappingQualityReadFilter() );
return new Reads( argCollection.samFiles,
argCollection.strictnessLevel,
argCollection.downsampleFraction,
argCollection.downsampleCoverage,
!argCollection.unsafe,
filters );
}
/**
* Verifies that the supplied set of reads files mesh with what the walker says it requires.
* @param walker Walker to test.
* @param arguments Supplied reads files.
*/
private void validateSuppliedReadsAgainstWalker( Walker walker, GATKArgumentCollection arguments ) {
// Check what the walker says is required against what was provided on the command line.
if (WalkerManager.isRequired(walker, DataSource.READS) && (arguments.samFiles == null || arguments.samFiles.size() == 0))
throw new ArgumentException("Walker requires reads but none were provided. If this is incorrect, alter the walker's @Requires annotation.");
// Check what the walker says is allowed against what was provided on the command line.
if ((arguments.samFiles != null && arguments.samFiles.size() > 0) && !WalkerManager.isAllowed(walker, DataSource.READS))
throw new ArgumentException("Walker does not allow reads but reads were provided. If this is incorrect, alter the walker's @Allows annotation");
}
/**
* Verifies that the supplied reference file mesh with what the walker says it requires.
* @param walker Walker to test.
* @param arguments Supplied reads files.
*/
private void validateSuppliedReferenceAgainstWalker( Walker walker, GATKArgumentCollection arguments ) {
// Check what the walker says is required against what was provided on the command line.
if (WalkerManager.isRequired(walker, DataSource.REFERENCE) && arguments.referenceFile == null)
throw new ArgumentException("Walker requires a reference but none was provided. If this is incorrect, alter the walker's @Requires annotation.");
// Check what the walker says is allowed against what was provided on the command line.
if (arguments.referenceFile != null && !WalkerManager.isAllowed(walker, DataSource.REFERENCE))
throw new ArgumentException("Walker does not allow a reference but one was provided. If this is incorrect, alter the walker's @Allows annotation");
}
/**
* Verifies that all required reference-ordered data has been supplied, and any reference-ordered data that was not
* 'allowed' is still present.
* @param walker Walker to test.
* @param rods Reference-ordered data to load.
*/
private void validateSuppliedReferenceOrderedDataAgainstWalker( Walker walker, List<ReferenceOrderedData<? extends ReferenceOrderedDatum>> rods ) {
// Check to make sure that all required metadata is present.
List<RMD> allRequired = WalkerManager.getRequiredMetaData(walker);
for (RMD required : allRequired) {
boolean found = false;
for (ReferenceOrderedData<? extends ReferenceOrderedDatum> rod : rods) {
if (rod.matches(required.name(), required.type()))
found = true;
}
if (!found)
throw new ArgumentException(String.format("Unable to find reference metadata (%s,%s)", required.name(), required.type()));
}
// Check to see that no forbidden rods are present.
for (ReferenceOrderedData<? extends ReferenceOrderedDatum> rod : rods) {
if (!WalkerManager.isAllowed(walker, rod))
throw new ArgumentException(String.format("Walker does not allow access to metadata: %s. If this is incorrect, change the @Allows metadata", rod.getName()));
}
}
/**
* Now that all files are open, validate the sequence dictionaries of the reads vs. the reference.
* @param reads Reads data source.
* @param reference Reference data source.
*/
private void validateReadsAndReferenceAreCompatible( SAMDataSource reads, ReferenceSequenceFile reference ) {
if( reads == null || reference == null )
return;
// Compile a set of sequence names that exist in the BAM files.
SAMSequenceDictionary readsDictionary = reads.getHeader().getSequenceDictionary();
Set<String> readsSequenceNames = new TreeSet<String>();
for( SAMSequenceRecord dictionaryEntry: readsDictionary.getSequences() )
readsSequenceNames.add(dictionaryEntry.getSequenceName());
// Compile a set of sequence names that exist in the reference file.
SAMSequenceDictionary referenceDictionary = reference.getSequenceDictionary();
Set<String> referenceSequenceNames = new TreeSet<String>();
for( SAMSequenceRecord dictionaryEntry: referenceDictionary.getSequences() )
referenceSequenceNames.add(dictionaryEntry.getSequenceName());
if( readsSequenceNames.size() == 0 ) {
logger.info("Reads file is unmapped. Skipping validation against reference.");
return;
}
// If there's no overlap between reads and reference, data will be bogus. Throw an exception.
Set<String> intersectingSequenceNames = new HashSet<String>(readsSequenceNames);
intersectingSequenceNames.retainAll(referenceSequenceNames);
if( intersectingSequenceNames.size() == 0 ) {
StringBuilder error = new StringBuilder();
error.append("No overlap exists between sequence dictionary of the reads and the sequence dictionary of the reference. Perhaps you're using the wrong reference?\n");
error.append(System.getProperty("line.separator"));
error.append(String.format("Reads contigs: %s%n", prettyPrintSequenceRecords(readsDictionary)));
error.append(String.format("Reference contigs: %s%n", prettyPrintSequenceRecords(referenceDictionary)));
logger.error(error.toString());
Utils.scareUser("No overlap exists between sequence dictionary of the reads and the sequence dictionary of the reference.");
}
// If the two datasets are not equal and neither is a strict subset of the other, warn the user.
if( !readsSequenceNames.equals(referenceSequenceNames) &&
!readsSequenceNames.containsAll(referenceSequenceNames) &&
!referenceSequenceNames.containsAll(readsSequenceNames)) {
StringBuilder warning = new StringBuilder();
warning.append("Limited overlap exists between sequence dictionary of the reads and the sequence dictionary of the reference. Perhaps you're using the wrong reference?\n");
warning.append(System.getProperty("line.separator"));
warning.append(String.format("Reads contigs: %s%n", prettyPrintSequenceRecords(readsDictionary)));
warning.append(String.format("Reference contigs: %s%n", prettyPrintSequenceRecords(referenceDictionary)));
logger.warn(warning.toString());
}
}
private String prettyPrintSequenceRecords( SAMSequenceDictionary sequenceDictionary ) {
String[] sequenceRecordNames = new String[ sequenceDictionary.size() ];
int sequenceRecordIndex = 0;
for( SAMSequenceRecord sequenceRecord: sequenceDictionary.getSequences() )
sequenceRecordNames[sequenceRecordIndex++] = sequenceRecord.getSequenceName();
return Arrays.deepToString(sequenceRecordNames);
}
/**
* Convenience function that binds RODs using the old-style command line parser to the new style list for
* a uniform processing.
*
* @param name the name of the rod
* @param type its type
* @param file the file to load the rod from
*/
private void bindConvenienceRods(final String name, final String type, final String file) {
argCollection.RODBindings.add(Utils.join(",", new String[]{name, type, file}));
}
/**
* Get the sharding strategy given a driving data source.
*
* @param walker Walker for which to infer sharding strategy.
* @param drivingDataSource Data on which to shard.
* @param intervals Intervals to use when limiting sharding.
* @param maxIterations the maximum number of iterations to run through
*
* @return Sharding strategy for this driving data source.
*/
protected ShardStrategy getShardStrategy(Walker walker,
ReferenceSequenceFile drivingDataSource,
GenomeLocSortedSet intervals,
Integer maxIterations) {
final long SHARD_SIZE = 100000L;
ShardStrategy shardStrategy = null;
ShardStrategyFactory.SHATTER_STRATEGY shardType;
if (walker instanceof LocusWalker) {
if (intervals != null) {
shardType = (walker.isReduceByInterval()) ?
ShardStrategyFactory.SHATTER_STRATEGY.INTERVAL :
ShardStrategyFactory.SHATTER_STRATEGY.LINEAR;
shardStrategy = ShardStrategyFactory.shatter(shardType,
drivingDataSource.getSequenceDictionary(),
SHARD_SIZE,
intervals, maxIterations);
} else
shardStrategy = ShardStrategyFactory.shatter(ShardStrategyFactory.SHATTER_STRATEGY.LINEAR,
drivingDataSource.getSequenceDictionary(),
SHARD_SIZE, maxIterations);
} else if (walker instanceof ReadWalker ||
walker instanceof DuplicateWalker) {
shardType = ShardStrategyFactory.SHATTER_STRATEGY.READS;
if (intervals != null) {
shardStrategy = ShardStrategyFactory.shatter(shardType,
drivingDataSource.getSequenceDictionary(),
SHARD_SIZE,
intervals, maxIterations);
} else {
shardStrategy = ShardStrategyFactory.shatter(shardType,
drivingDataSource.getSequenceDictionary(),
SHARD_SIZE, maxIterations);
}
} else if (walker instanceof LocusWindowWalker) {
if( intervals == null )
throw new StingException("Unable to shard: walker is of type LocusWindow, but no intervals were provided");
shardStrategy = ShardStrategyFactory.shatter(ShardStrategyFactory.SHATTER_STRATEGY.INTERVAL,
drivingDataSource.getSequenceDictionary(),
SHARD_SIZE,
intervals, maxIterations);
} else
throw new StingException("Unable to support walker of type" + walker.getClass().getName());
return shardStrategy;
}
/**
* Gets a data source for the given set of reads.
*
* @param reads the read source information
*
* @return A data source for the given set of reads.
*/
private SAMDataSource createReadsDataSource(Reads reads) {
// By reference traversals are happy with no reads. Make sure that case is handled.
if (reads.getReadsFiles().size() == 0)
return null;
SAMDataSource dataSource = new SAMDataSource(reads);
return dataSource;
}
/**
* Opens a reference sequence file paired with an index.
*
* @param refFile Handle to a reference sequence file. Non-null.
*
* @return A thread-safe file wrapper.
*/
private IndexedFastaSequenceFile openReferenceSequenceFile(File refFile) {
IndexedFastaSequenceFile ref = null;
try {
ref = new IndexedFastaSequenceFile(refFile);
}
catch (FileNotFoundException ex) {
throw new StingException("I/O error while opening fasta file: " + ex.getMessage(), ex);
}
GenomeLocParser.setupRefContigOrdering(ref);
return ref;
}
/**
* Open the reference-ordered data sources.
*
* @param rods the reference order data to execute using
*
* @return A list of reference-ordered data sources.
*/
private List<ReferenceOrderedDataSource> getReferenceOrderedDataSources(List<ReferenceOrderedData<? extends ReferenceOrderedDatum>> rods) {
List<ReferenceOrderedDataSource> dataSources = new ArrayList<ReferenceOrderedDataSource>();
for (ReferenceOrderedData<? extends ReferenceOrderedDatum> rod : rods)
dataSources.add(new ReferenceOrderedDataSource(rod));
return dataSources;
}
/**
* Initialize the output streams as specified by the user.
*
* @param walker the walker to initialize output streams for
*/
private void initializeOutputStreams(Walker walker) {
if( argCollection.outErrFileName != null )
outputTracker.initializeCoreIO( argCollection.outErrFileName, argCollection.outErrFileName );
else
outputTracker.initializeCoreIO( argCollection.outFileName, argCollection.errFileName );
outputTracker.prepareWalker(walker);
}
/**
* Gets the output tracker. Tracks data available to a given walker.
*
* @return The output tracker.
*/
public OutputTracker getOutputTracker() {
return outputTracker;
}
public SAMFileHeader getSAMFileHeader() {
return readsDataSource.getHeader();
}
/**
* 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.
* @return
*/
public SAMDataSource getDataSource() {
return this.readsDataSource;
}
/**
* Gets the collection of GATK main application arguments for enhanced walker validation.
*
* @return the GATK argument collection
*/
public GATKArgumentCollection getArguments() {
return this.argCollection;
}
}