Feature request from Tim that could be useful to all: there's now an --interval_padding argument that specifies how many basepairs to add to each of the intervals provided with -L (on both ends). This is particularly useful when trying to run over the exome plus flanks and don't want to have to pre-compute the flanks (just use e.g. --interval_padding 50). Added integration test to cover this feature.
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@ -29,17 +29,14 @@ import org.broad.tribble.AbstractFeatureReader;
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import org.broad.tribble.Feature;
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import org.broad.tribble.FeatureCodec;
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import org.broad.tribble.FeatureReader;
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import org.broad.tribble.readers.AsciiLineReader;
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import org.broadinstitute.sting.gatk.GenomeAnalysisEngine;
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import org.broadinstitute.sting.gatk.refdata.ReferenceDependentFeatureCodec;
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import org.broadinstitute.sting.gatk.refdata.tracks.FeatureManager;
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import org.broadinstitute.sting.utils.GenomeLoc;
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import org.broadinstitute.sting.utils.GenomeLocParser;
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import org.broadinstitute.sting.utils.exceptions.UserException;
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import org.broadinstitute.sting.utils.interval.IntervalUtils;
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import java.io.File;
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import java.io.FileInputStream;
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import java.io.IOException;
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import java.util.*;
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/**
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@ -73,7 +70,11 @@ public final class IntervalBinding<T extends Feature> {
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return stringIntervals;
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}
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public List<GenomeLoc> getIntervals(GenomeAnalysisEngine toolkit) {
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public List<GenomeLoc> getIntervals(final GenomeAnalysisEngine toolkit) {
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return getIntervals(toolkit.getGenomeLocParser());
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}
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public List<GenomeLoc> getIntervals(final GenomeLocParser genomeLocParser) {
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List<GenomeLoc> intervals;
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if ( featureIntervals != null ) {
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@ -83,17 +84,17 @@ public final class IntervalBinding<T extends Feature> {
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final FeatureCodec codec = new FeatureManager().getByName(featureIntervals.getTribbleType()).getCodec();
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if ( codec instanceof ReferenceDependentFeatureCodec )
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((ReferenceDependentFeatureCodec)codec).setGenomeLocParser(toolkit.getGenomeLocParser());
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((ReferenceDependentFeatureCodec)codec).setGenomeLocParser(genomeLocParser);
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try {
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FeatureReader<Feature> reader = AbstractFeatureReader.getFeatureReader(featureIntervals.getSource(), codec, false);
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for ( Feature feature : reader.iterator() )
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intervals.add(toolkit.getGenomeLocParser().createGenomeLoc(feature));
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intervals.add(genomeLocParser.createGenomeLoc(feature));
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} catch (Exception e) {
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throw new UserException.MalformedFile(featureIntervals.getSource(), "Problem reading the interval file", e);
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}
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} else {
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intervals = IntervalUtils.parseIntervalArguments(toolkit.getGenomeLocParser(), stringIntervals);
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intervals = IntervalUtils.parseIntervalArguments(genomeLocParser, stringIntervals);
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}
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return intervals;
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@ -592,7 +592,7 @@ public class GenomeAnalysisEngine {
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// if include argument isn't given, create new set of all possible intervals
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GenomeLocSortedSet includeSortedSet = (argCollection.intervals == null ?
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GenomeLocSortedSet.createSetFromSequenceDictionary(this.referenceDataSource.getReference().getSequenceDictionary()) :
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loadIntervals(argCollection.intervals, argCollection.intervalSetRule));
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loadIntervals(argCollection.intervals, argCollection.intervalSetRule, argCollection.intervalPadding));
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// if no exclude arguments, can return parseIntervalArguments directly
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if ( argCollection.excludeIntervals == null )
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@ -619,16 +619,31 @@ public class GenomeAnalysisEngine {
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* @param rule interval merging rule
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* @return A sorted, merged list of all intervals specified in this arg list.
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*/
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protected GenomeLocSortedSet loadIntervals( List<IntervalBinding<Feature>> argList, IntervalSetRule rule ) {
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protected GenomeLocSortedSet loadIntervals( final List<IntervalBinding<Feature>> argList, final IntervalSetRule rule ) {
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return loadIntervals(argList, rule, 0);
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}
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/**
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* Loads the intervals relevant to the current execution
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* @param argList argument bindings; might include filenames, intervals in samtools notation, or a combination of the above
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* @param rule interval merging rule
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* @param padding how much to pad the intervals
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* @return A sorted, merged list of all intervals specified in this arg list.
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*/
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protected GenomeLocSortedSet loadIntervals( final List<IntervalBinding<Feature>> argList, final IntervalSetRule rule, final int padding ) {
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List<GenomeLoc> allIntervals = new ArrayList<GenomeLoc>();
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for ( IntervalBinding intervalBinding : argList ) {
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List<GenomeLoc> intervals = intervalBinding.getIntervals(this);
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List<GenomeLoc> intervals = intervalBinding.getIntervals(this.getGenomeLocParser());
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if ( intervals.isEmpty() ) {
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logger.warn("The interval file " + intervalBinding.getSource() + " contains no intervals that could be parsed.");
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}
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if ( padding > 0 ) {
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intervals = IntervalUtils.getIntervalsWithFlanks(this.getGenomeLocParser(), intervals, padding);
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}
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allIntervals = IntervalUtils.mergeListsBySetOperator(intervals, allIntervals, rule);
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}
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@ -104,6 +104,12 @@ public class GATKArgumentCollection {
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@Argument(fullName = "interval_merging", shortName = "im", doc = "Indicates the interval merging rule we should use for abutting intervals", required = false)
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public IntervalMergingRule intervalMerging = IntervalMergingRule.ALL;
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/**
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* For example, '-L chr1:100' with a padding value of 20 would turn into '-L chr1:80-120'.
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*/
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@Argument(fullName = "interval_padding", shortName = "ip", doc = "Indicates how many basepairs of padding to include around each of the intervals specified with the -L/--intervals argument", required = false)
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public int intervalPadding = 0;
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@Input(fullName = "reference_sequence", shortName = "R", doc = "Reference sequence file", required = false)
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public File referenceFile = null;
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@ -587,6 +587,27 @@ public final class GenomeLocParser {
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return createGenomeLoc(contigName, contigIndex, start, stop, true);
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}
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/**
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* Creates a loc padded in both directions by maxBasePairs size (if possible).
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* @param loc The original loc
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* @param padding The number of base pairs to pad on either end
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* @return The contiguous loc of length up to the original length + 2*padding (depending on the start/end of the contig).
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*/
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@Requires({"loc != null", "padding > 0"})
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public GenomeLoc createPaddedGenomeLoc(final GenomeLoc loc, final int padding) {
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if (GenomeLoc.isUnmapped(loc))
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return loc;
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final String contigName = loc.getContig();
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final SAMSequenceRecord contig = contigInfo.getSequence(contigName);
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final int contigIndex = contig.getSequenceIndex();
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final int contigLength = contig.getSequenceLength();
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final int start = Math.max(1, loc.getStart() - padding);
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final int stop = Math.min(contigLength, loc.getStop() + padding);
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return createGenomeLoc(contigName, contigIndex, start, stop, true);
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}
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/**
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* Creates a loc to the right (starting at the loc stop + 1) of maxBasePairs size.
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* @param loc The original loc
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@ -648,6 +648,26 @@ public class IntervalUtils {
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return expanded;
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}
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/**
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* Returns a list of intervals between the passed int locs. Does not extend UNMAPPED locs.
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* @param parser A genome loc parser for creating the new intervals
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* @param locs Original genome locs
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* @param basePairs Number of base pairs on each side of loc
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* @return The list of intervals between the locs
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*/
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public static List<GenomeLoc> getIntervalsWithFlanks(final GenomeLocParser parser, final List<GenomeLoc> locs, final int basePairs) {
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if (locs.size() == 0)
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return Collections.emptyList();
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final List<GenomeLoc> expanded = new ArrayList<GenomeLoc>();
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for ( final GenomeLoc loc : locs ) {
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expanded.add(parser.createPaddedGenomeLoc(loc, basePairs));
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}
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return sortAndMergeIntervals(parser, expanded, IntervalMergingRule.ALL).toList();
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}
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private static LinkedHashMap<String, List<GenomeLoc>> splitByContig(List<GenomeLoc> sorted) {
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LinkedHashMap<String, List<GenomeLoc>> splits = new LinkedHashMap<String, List<GenomeLoc>>();
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GenomeLoc last = null;
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@ -207,11 +207,26 @@ public class IntervalIntegrationTest extends WalkerTest {
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" -R " + hg18Reference +
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" -o %s" +
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" -L " + validationDataLocation + "intervalTest.3.vcf",
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1, // just one output file
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Arrays.asList(md5));
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1, // just one output file
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Arrays.asList(md5));
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executeTest("testComplexVCF", spec);
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}
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@Test(enabled = true)
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public void testComplexVCFWithPadding() {
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String md5 = "649ee93d50739c656e94ec88a32c7ffe";
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T CountLoci" +
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" --interval_padding 2" +
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" -I " + validationDataLocation + "OV-0930.normal.chunk.bam" +
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" -R " + hg18Reference +
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" -o %s" +
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" -L " + validationDataLocation + "intervalTest.3.vcf",
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1, // just one output file
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Arrays.asList(md5));
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executeTest("testComplexVCFWithPadding", spec);
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}
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@Test(enabled = true)
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public void testMergingWithComplexVCF() {
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String md5 = "6d7fce9fee471194aa8b5b6e47267f03";
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