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* Systematically compare the outputs of two pipeline versions, especially post-reblocking when many deletion "cleanup" changes occur * Subset annotations to account for different alleles * Refactor and clean up * Check ref blocks * Be explicit about AS_RAW annotation differences * Update changed star attributes from NaNs to missing; add option to ignore * Ignoring star attributes still needs work * Lookin' pretty good... * Add new mode to log all differences before failing * Misplaced brace prevented PL checks * Check on */* genotypes was failing DRAGEN outputs -- removed * clean up after rebase * adding test * style * not sure why we need to cap values for the comparator so removing it * addressing comments * more comments --------- Co-authored-by: Laura Gauthier <gauthier@broadinstitute.org>
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src/main/java/org/broadinstitute/hellbender/engine/MultiVariantWalkerGroupedByOverlap.java
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| package org.broadinstitute.hellbender.engine; | ||
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| import htsjdk.samtools.util.Locatable; | ||
| import htsjdk.samtools.util.OverlapDetector; | ||
| import htsjdk.variant.variantcontext.Allele; | ||
| import htsjdk.variant.variantcontext.VariantContext; | ||
| import org.broadinstitute.barclay.argparser.Advanced; | ||
| import org.broadinstitute.barclay.argparser.Argument; | ||
| import org.broadinstitute.hellbender.exceptions.GATKException; | ||
| import org.broadinstitute.hellbender.utils.SimpleInterval; | ||
| import org.broadinstitute.hellbender.utils.Utils; | ||
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| import java.util.ArrayList; | ||
| import java.util.HashMap; | ||
| import java.util.List; | ||
| import java.util.Map; | ||
| import java.util.stream.Collectors; | ||
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| /** | ||
| * A MultiVariantWalker that walks over multiple variant context sources in reference order and emits to client tools | ||
| * groups of all input variant contexts by their start position. This is intended to mimic GATK3 traversal behavior for | ||
| * some tools. | ||
| * | ||
| * As such, the argument '-ignore-variants-starting-outside-interval' has been provided to mimic GATK3's behavior | ||
| * only presenting variants that start inside the requested interval regardless of whether there is a spanning variant. | ||
| * | ||
| * Client tools must implement apply(List<VariantContext> variantContexts, ReferenceContext referenceContext) | ||
| */ | ||
| public abstract class MultiVariantWalkerGroupedByOverlap extends MultiVariantWalker { | ||
| private List<VariantContext> currentVariants = new ArrayList<>(); | ||
| private String lastCurrentVariantContig; | ||
| private int lastCurrentVariantEnd; | ||
| private List<ReadsContext> currentReadsContexts = new ArrayList<>(); | ||
| private OverlapDetector<SimpleInterval> overlapDetector; | ||
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| public static final String IGNORE_VARIANTS_THAT_START_OUTSIDE_INTERVAL = "ignore-variants-starting-outside-interval"; | ||
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| public static final String COMBINE_VARIANTS_DISTANCE = "combine-variants-distance"; | ||
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| public static final String MAX_COMBINED_DISTANCE = "max-distance"; | ||
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| public static final String REFERENCE_WINDOW_PADDING = "ref-padding"; | ||
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| /** | ||
| * this option has no effect unless intervals are specified. | ||
| * <p> | ||
| * This exists to mimic GATK3 interval traversal patterns | ||
| */ | ||
| @Advanced | ||
| @Argument(fullName = IGNORE_VARIANTS_THAT_START_OUTSIDE_INTERVAL, | ||
| doc = "Restrict variant output to sites that start within provided intervals (only applies when an interval is specified)", | ||
| optional = true) | ||
| protected boolean ignoreIntervalsOutsideStart = false; | ||
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| @Advanced | ||
| @Argument(fullName = COMBINE_VARIANTS_DISTANCE, doc = "Maximum distance for variants to be grouped together", optional = true) | ||
| protected int distanceToCombineVariants = defaultDistanceToGroupVariants(); | ||
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| @Advanced | ||
| @Argument(fullName = MAX_COMBINED_DISTANCE, doc = "Maximum distance for variants to be grouped together", optional = true) | ||
| protected int maxCombinedDistance = defaultMaxGroupedSpan(); | ||
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| @Advanced | ||
| @Argument(fullName = REFERENCE_WINDOW_PADDING, doc = "Number of bases on either side to expand spanning reference window", optional = true) | ||
| protected int referenceWindowPadding = defaultReferenceWindowPadding(); | ||
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| @Advanced | ||
| @Argument(fullName = "ignore-reference-blocks", shortName = "ignore-ref-blocks", optional = true) | ||
| protected boolean ignoreReferenceBlocks = false; | ||
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| // override to group variants that start nearby but not at the same locus | ||
| protected int defaultDistanceToGroupVariants() { | ||
| return 10000; | ||
| } | ||
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| // override to change reference padding | ||
| protected int defaultReferenceWindowPadding() { | ||
| return 1; | ||
| } | ||
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| // override to cap the size span of combined variants | ||
| protected int defaultMaxGroupedSpan() { | ||
| return Integer.MAX_VALUE; | ||
| } | ||
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| @Override | ||
| public boolean requiresReference() { | ||
| return true; | ||
| } | ||
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| /** | ||
| * This method keeps track of all the variants it is passed and will feed all the variants that start at the same | ||
| * site to the reduce method. | ||
| * | ||
| * {@inheritDoc} | ||
| */ | ||
| @Override | ||
| public final void apply(VariantContext variant, ReadsContext readsContext, ReferenceContext referenceContext, FeatureContext featureContext) { | ||
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| // Filtering out variants that start outside of the specified intervals | ||
| if (ignoreIntervalsOutsideStart && !isWithinInterval(new SimpleInterval(variant.getContig(), variant.getStart(), variant.getStart()))) { | ||
| return; | ||
| } | ||
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| if (ignoreReferenceBlocks && variant.getAlternateAlleles().size() ==1 && variant.getAlternateAllele(0).equals(Allele.NON_REF_ALLELE)) { | ||
| return; | ||
| } | ||
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| // Collecting all the reads that start at a particular base into one. | ||
| if (currentVariants.isEmpty()) { | ||
| lastCurrentVariantContig = variant.getContig(); | ||
| } else if (!currentVariants.get(0).contigsMatch(variant) | ||
| || variant.getStart() > lastCurrentVariantEnd) { | ||
| // Emptying any sites which should emit a new VC since the last one | ||
| apply(new ArrayList<>(currentVariants), currentReadsContexts); | ||
| currentVariants.clear(); | ||
| currentReadsContexts.clear(); | ||
| } | ||
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| currentVariants.add(variant); | ||
| currentReadsContexts.add(readsContext); | ||
| if (variant.getEnd() > lastCurrentVariantEnd || !lastCurrentVariantContig.equals(variant.getContig())) { | ||
| lastCurrentVariantEnd = variant.getEnd(); | ||
| lastCurrentVariantContig = variant.getContig(); | ||
| } | ||
| } | ||
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| /** | ||
| * This method must be implemented by tool authors. | ||
| * | ||
| * This is the primary traversal for any MultiVariantWalkerGroupedOnStart walkers. Will traverse over input variant contexts | ||
| * and call #apply() exactly once for each unique reference start position. All variants starting at each locus | ||
| * across source files will be grouped and passed as a list of VariantContext objects. | ||
| * @param variantContexts VariantContexts from driving variants with matching start position | ||
| * NOTE: This will never be empty | ||
| * @param referenceContext ReferenceContext object covering the reference of the longest spanning VariantContext | ||
| * @param readsContexts | ||
| */ | ||
| public abstract void apply(final List<VariantContext> variantContexts, final ReferenceContext referenceContext, final List<ReadsContext> readsContexts); | ||
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| public void apply(List<VariantContext> variantContexts, final List<ReadsContext> readsContexts) { | ||
| apply(variantContexts, makeSpanningReferenceContext(variantContexts, referenceWindowPadding), readsContexts); | ||
| } | ||
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| /** | ||
| * Helper method that ensures the reference context it returns is adequate to span the length of all the accumulated | ||
| * VariantContexts. It assumes that all variant contexts in currentVariants have the same contig. | ||
| */ | ||
| private ReferenceContext makeSpanningReferenceContext(final List<VariantContext> variantContexts, final int referenceWindowPadding) { | ||
| Utils.nonEmpty(variantContexts, "Must have at least one current variant context"); | ||
| final List<String> contigs = variantContexts.stream().map(VariantContext::getContig).distinct().collect(Collectors.toList()); | ||
| Utils.validate(contigs.size() == 1, "variant contexts should all have the same contig"); | ||
| final int minStart = variantContexts.stream().mapToInt(VariantContext::getStart).min().getAsInt(); | ||
| final int maxEnd = variantContexts.stream().mapToInt(VariantContext::getEnd).max().getAsInt(); | ||
| final SimpleInterval combinedInterval = new SimpleInterval(contigs.get(0), minStart, maxEnd); | ||
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| final ReferenceContext combinedReferenceContext = new ReferenceContext(reference, combinedInterval); | ||
| combinedReferenceContext.setWindow(referenceWindowPadding,referenceWindowPadding); | ||
| return combinedReferenceContext; | ||
| } | ||
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| /** | ||
| * {@inheritDoc} | ||
| * | ||
| * Implementation of multi-variant grouped on start traversal. | ||
| * | ||
| * NOTE: You should only override {@link #traverse()} if you are writing a new walker base class in the | ||
| * engine package that extends this class. It is not meant to be overridden by tools outside of the | ||
| * engine package. | ||
| */ | ||
| @Override | ||
| public void traverse() { | ||
| beforeTraverse(); | ||
| super.traverse(); | ||
| afterTraverse(); | ||
| } | ||
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| /** | ||
| * Marked final so that tool authors don't override it. Tool authors should override {@link #onTraversalStart} instead. | ||
| */ | ||
| private void beforeTraverse() { | ||
| overlapDetector = hasUserSuppliedIntervals() ? OverlapDetector.create(intervalArgumentCollection.getIntervals(getBestAvailableSequenceDictionary())) : null; | ||
| } | ||
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| /** | ||
| * @param loc locatable to query | ||
| * @return true if the query loc is entirely contained by the interval, true if no interval | ||
| */ | ||
| protected final boolean isWithinInterval(Locatable loc) { | ||
| return (overlapDetector==null || overlapDetector.overlapsAny(loc)); | ||
| } | ||
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| /** | ||
| * Clear accumulated reads before {@link #onTraversalSuccess()} is accessed | ||
| */ | ||
| private void afterTraverse() { | ||
| // Clearing the accumulator | ||
| if (currentVariants.isEmpty()) { | ||
| logger.warn("Error: The requested interval contained no data in source VCF files"); | ||
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| } else { | ||
| apply(currentVariants, currentReadsContexts); | ||
| } | ||
| } | ||
| } |
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