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Example 1 with GeneDisruption

use of com.hartwig.hmftools.svannotation.annotations.GeneDisruption in project hmftools by hartwigmedical.

the class StructuralVariantAnalyzer method processDisruptions.

@NotNull
private List<GeneDisruption> processDisruptions(final List<StructuralVariantAnnotation> annotations) {
    final List<GeneAnnotation> geneAnnotations = Lists.newArrayList();
    for (final StructuralVariantAnnotation annotation : annotations) {
        @SuppressWarnings("ConstantConditions") final boolean pureIntronicDisruptionCanonical = annotation.start().stream().filter(gene -> gene.canonical() != null).anyMatch(gene -> annotation.end().stream().filter(other -> other.canonical() != null).anyMatch(other -> intronicDisruptionOnSameTranscript(gene.canonical(), other.canonical())));
        if (pureIntronicDisruptionCanonical && annotation.variant().type() != StructuralVariantType.INV) {
            continue;
        }
        geneAnnotations.addAll(annotation.annotations());
    }
    final Multimap<String, GeneAnnotation> geneMap = ArrayListMultimap.create();
    geneAnnotations.forEach(g -> geneMap.put(g.geneName(), g));
    final List<GeneDisruption> disruptions = Lists.newArrayList();
    for (final String geneName : geneMap.keySet()) {
        for (final GeneAnnotation gene : geneMap.get(geneName)) {
            for (final Transcript transcript : gene.transcripts()) {
                final GeneDisruption disruption = ImmutableGeneDisruption.builder().reportable(inHmfPanel(gene) && transcript.isCanonical()).linkedAnnotation(transcript).build();
                disruptions.add(disruption);
            }
        }
    }
    return disruptions;
}
Also used : ArrayListMultimap(com.google.common.collect.ArrayListMultimap) StructuralVariantAnnotation(com.hartwig.hmftools.svannotation.annotations.StructuralVariantAnnotation) ImmutableGeneDisruption(com.hartwig.hmftools.svannotation.annotations.ImmutableGeneDisruption) HmfGenomeRegion(com.hartwig.hmftools.common.region.hmfslicer.HmfGenomeRegion) Multimap(com.google.common.collect.Multimap) Lists(com.google.common.collect.Lists) Pair(org.apache.commons.lang3.tuple.Pair) StructuralVariantType(com.hartwig.hmftools.common.variant.structural.StructuralVariantType) CosmicFusionData(com.hartwig.hmftools.common.cosmic.fusions.CosmicFusionData) EnrichedStructuralVariant(com.hartwig.hmftools.common.variant.structural.EnrichedStructuralVariant) GeneDisruption(com.hartwig.hmftools.svannotation.annotations.GeneDisruption) GeneAnnotation(com.hartwig.hmftools.svannotation.annotations.GeneAnnotation) VariantAnnotator(com.hartwig.hmftools.svannotation.VariantAnnotator) Collection(java.util.Collection) Collectors(java.util.stream.Collectors) Transcript(com.hartwig.hmftools.svannotation.annotations.Transcript) Nullable(org.jetbrains.annotations.Nullable) List(java.util.List) Logger(org.apache.logging.log4j.Logger) GeneFusion(com.hartwig.hmftools.svannotation.annotations.GeneFusion) CosmicFusionModel(com.hartwig.hmftools.common.cosmic.fusions.CosmicFusionModel) Optional(java.util.Optional) ImmutableGeneFusion(com.hartwig.hmftools.svannotation.annotations.ImmutableGeneFusion) Comparator(java.util.Comparator) NotNull(org.jetbrains.annotations.NotNull) LogManager(org.apache.logging.log4j.LogManager) GeneAnnotation(com.hartwig.hmftools.svannotation.annotations.GeneAnnotation) Transcript(com.hartwig.hmftools.svannotation.annotations.Transcript) StructuralVariantAnnotation(com.hartwig.hmftools.svannotation.annotations.StructuralVariantAnnotation) ImmutableGeneDisruption(com.hartwig.hmftools.svannotation.annotations.ImmutableGeneDisruption) GeneDisruption(com.hartwig.hmftools.svannotation.annotations.GeneDisruption) NotNull(org.jetbrains.annotations.NotNull)

Example 2 with GeneDisruption

use of com.hartwig.hmftools.svannotation.annotations.GeneDisruption in project hmftools by hartwigmedical.

the class StructuralVariantAnnotationDAO method write.

@SuppressWarnings("unchecked")
public void write(final StructuralVariantAnalysis analysis) {
    final Timestamp timestamp = new Timestamp(new Date().getTime());
    final Map<Transcript, Integer> id = Maps.newHashMap();
    // NERA: load transcript annotations
    for (final StructuralVariantAnnotation annotation : analysis.annotations()) {
        for (final GeneAnnotation geneAnnotation : annotation.annotations()) {
            final InsertValuesStep13 inserter = context.insertInto(STRUCTURALVARIANTBREAKEND, STRUCTURALVARIANTBREAKEND.MODIFIED, STRUCTURALVARIANTBREAKEND.ISSTARTEND, STRUCTURALVARIANTBREAKEND.STRUCTURALVARIANTID, STRUCTURALVARIANTBREAKEND.GENE, STRUCTURALVARIANTBREAKEND.GENEID, STRUCTURALVARIANTBREAKEND.TRANSCRIPTID, STRUCTURALVARIANTBREAKEND.ISCANONICALTRANSCRIPT, STRUCTURALVARIANTBREAKEND.STRAND, STRUCTURALVARIANTBREAKEND.EXONRANKUPSTREAM, STRUCTURALVARIANTBREAKEND.EXONPHASEUPSTREAM, STRUCTURALVARIANTBREAKEND.EXONRANKDOWNSTREAM, STRUCTURALVARIANTBREAKEND.EXONPHASEDOWNSTREAM, STRUCTURALVARIANTBREAKEND.EXONMAX);
            for (final Transcript transcript : geneAnnotation.transcripts()) {
                inserter.values(timestamp, geneAnnotation.isStart(), transcript.parent().variant().primaryKey(), geneAnnotation.geneName(), geneAnnotation.stableId(), transcript.transcriptId(), transcript.isCanonical(), geneAnnotation.strand(), transcript.exonUpstream(), transcript.exonUpstreamPhase(), transcript.exonDownstream(), transcript.exonDownstreamPhase(), transcript.exonMax());
            }
            final List<UInteger> ids = inserter.returning(STRUCTURALVARIANTBREAKEND.ID).fetch().getValues(0, UInteger.class);
            if (ids.size() != geneAnnotation.transcripts().size()) {
                throw new RuntimeException("not all transcripts were inserted successfully");
            }
            for (int i = 0; i < ids.size(); i++) {
                id.put(geneAnnotation.transcripts().get(i), ids.get(i).intValue());
            }
        }
    }
    // NERA: load fusions
    final InsertValuesStep3 fusionInserter = context.insertInto(STRUCTURALVARIANTFUSION, STRUCTURALVARIANTFUSION.ISREPORTED, STRUCTURALVARIANTFUSION.FIVEPRIMEBREAKENDID, STRUCTURALVARIANTFUSION.THREEPRIMEBREAKENDID);
    for (final GeneFusion fusion : analysis.fusions()) {
        fusionInserter.values(fusion.reportable(), id.get(fusion.upstreamLinkedAnnotation()), id.get(fusion.downstreamLinkedAnnotation()));
    }
    fusionInserter.execute();
    // NERA: load disruptions
    final InsertValuesStep2 disruptionInserter = context.insertInto(STRUCTURALVARIANTDISRUPTION, STRUCTURALVARIANTDISRUPTION.ISREPORTED, STRUCTURALVARIANTDISRUPTION.BREAKENDID);
    for (final GeneDisruption disruption : analysis.disruptions()) {
        disruptionInserter.values(disruption.reportable(), id.get(disruption.linkedAnnotation()));
    }
    disruptionInserter.execute();
}
Also used : Transcript(com.hartwig.hmftools.svannotation.annotations.Transcript) GeneAnnotation(com.hartwig.hmftools.svannotation.annotations.GeneAnnotation) StructuralVariantAnnotation(com.hartwig.hmftools.svannotation.annotations.StructuralVariantAnnotation) GeneDisruption(com.hartwig.hmftools.svannotation.annotations.GeneDisruption) InsertValuesStep13(org.jooq.InsertValuesStep13) Timestamp(java.sql.Timestamp) Date(java.util.Date) UInteger(org.jooq.types.UInteger) GeneFusion(com.hartwig.hmftools.svannotation.annotations.GeneFusion) UInteger(org.jooq.types.UInteger) InsertValuesStep2(org.jooq.InsertValuesStep2) InsertValuesStep3(org.jooq.InsertValuesStep3)

Aggregations

GeneAnnotation (com.hartwig.hmftools.svannotation.annotations.GeneAnnotation)2 GeneDisruption (com.hartwig.hmftools.svannotation.annotations.GeneDisruption)2 GeneFusion (com.hartwig.hmftools.svannotation.annotations.GeneFusion)2 StructuralVariantAnnotation (com.hartwig.hmftools.svannotation.annotations.StructuralVariantAnnotation)2 Transcript (com.hartwig.hmftools.svannotation.annotations.Transcript)2 ArrayListMultimap (com.google.common.collect.ArrayListMultimap)1 Lists (com.google.common.collect.Lists)1 Multimap (com.google.common.collect.Multimap)1 CosmicFusionData (com.hartwig.hmftools.common.cosmic.fusions.CosmicFusionData)1 CosmicFusionModel (com.hartwig.hmftools.common.cosmic.fusions.CosmicFusionModel)1 HmfGenomeRegion (com.hartwig.hmftools.common.region.hmfslicer.HmfGenomeRegion)1 EnrichedStructuralVariant (com.hartwig.hmftools.common.variant.structural.EnrichedStructuralVariant)1 StructuralVariantType (com.hartwig.hmftools.common.variant.structural.StructuralVariantType)1 VariantAnnotator (com.hartwig.hmftools.svannotation.VariantAnnotator)1 ImmutableGeneDisruption (com.hartwig.hmftools.svannotation.annotations.ImmutableGeneDisruption)1 ImmutableGeneFusion (com.hartwig.hmftools.svannotation.annotations.ImmutableGeneFusion)1 Timestamp (java.sql.Timestamp)1 Collection (java.util.Collection)1 Comparator (java.util.Comparator)1 Date (java.util.Date)1