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Example 1 with TumorLocationDoidMapping

use of com.hartwig.hmftools.common.ecrf.doid.TumorLocationDoidMapping in project hmftools by hartwigmedical.

the class PatientReporter method run.

@NotNull
public SequencedPatientReport run(@NotNull final String runDirectory, @Nullable final String comments) throws IOException {
    final RunContext run = ProductionRunContextFactory.fromRunDirectory(runDirectory);
    final GenomeAnalysis genomeAnalysis = analyseGenomeData(run.tumorSample(), runDirectory);
    assert run.isSomaticRun() && run.tumorSample().equals(genomeAnalysis.sample());
    final String tumorSample = genomeAnalysis.sample();
    final VariantAnalysis variantAnalysis = genomeAnalysis.variantAnalysis();
    final PurpleAnalysis purpleAnalysis = genomeAnalysis.purpleAnalysis();
    final StructuralVariantAnalysis structuralVariantAnalysis = genomeAnalysis.structuralVariantAnalysis();
    final List<GeneFusionData> reportableFusions = structuralVariantAnalysis.reportableFusions().stream().sorted(fusionComparator()).map(GeneFusionData::from).collect(Collectors.toList());
    final List<GeneDisruptionData> reportableDisruptions = structuralVariantAnalysis.reportableDisruptions().stream().sorted(disruptionComparator(reporterData().panelGeneModel().transcriptMap())).map(GeneDisruptionData::from).collect(Collectors.toList());
    final int passedVariantCount = variantAnalysis.passedVariants().size();
    final int mutationalLoad = variantAnalysis.mutationalLoad();
    final int consequentialVariantCount = variantAnalysis.consequentialVariants().size();
    final int structuralVariantCount = structuralVariantAnalysis.annotations().size();
    final String cancerType = PatientReporterHelper.extractCancerType(baseReporterData().patientsCancerTypes(), tumorSample);
    final TumorLocationDoidMapping doidMapping = TumorLocationDoidMapping.fromResource("/tumor_location_doid_mapping.csv");
    final List<Alteration> alterations = civicAnalyzer().run(variantAnalysis.findings(), purpleAnalysis.reportableGeneCopyNumbers(), reportableDisruptions, reportableFusions, reporterData().panelGeneModel(), doidMapping.doidsForTumorType(cancerType));
    LOGGER.info(" Printing analysis results:");
    LOGGER.info("  Number of passed variants : " + Integer.toString(passedVariantCount));
    LOGGER.info("  Number of missense variants (mutational load) : " + Integer.toString(mutationalLoad));
    LOGGER.info("  Number of consequential variants to report : " + Integer.toString(consequentialVariantCount));
    LOGGER.info(" Determined copy number stats for " + Integer.toString(purpleAnalysis.genePanelSize()) + " genes which led to " + Integer.toString(purpleAnalysis.reportableGeneCopyNumbers().size()) + " copy numbers.");
    LOGGER.info("  Number of unreported structural variants : " + Integer.toString(structuralVariantCount));
    LOGGER.info("  Number of gene fusions to report : " + Integer.toString(reportableFusions.size()));
    LOGGER.info("  Number of gene disruptions to report : " + Integer.toString(reportableDisruptions.size()));
    LOGGER.info("  Number of CIViC alterations to report : " + alterations.size());
    LOGGER.info("  Microsatellite analysis results: " + variantAnalysis.indelsPerMb() + " indels per MB");
    final Lims lims = baseReporterData().limsModel();
    final Double tumorPercentage = lims.tumorPercentageForSample(tumorSample);
    final List<VariantReport> purpleEnrichedVariants = purpleAnalysis.enrichSomaticVariants(variantAnalysis.findings());
    final String sampleRecipient = baseReporterData().centerModel().getAddresseeStringForSample(tumorSample);
    final SampleReport sampleReport = ImmutableSampleReport.of(tumorSample, cancerType, tumorPercentage, lims.arrivalDateForSample(tumorSample), lims.arrivalDateForSample(run.refSample()), lims.labProceduresForSample(tumorSample), sampleRecipient);
    return ImmutableSequencedPatientReport.of(sampleReport, purpleEnrichedVariants, mutationalLoad, variantAnalysis.indelsPerMb(), purpleAnalysis.reportableGeneCopyNumbers(), reportableDisruptions, reportableFusions, purpleAnalysis.purityString(), alterations, PatientReporterHelper.findCircosPlotPath(runDirectory, tumorSample), Optional.ofNullable(comments), baseReporterData().signaturePath());
}
Also used : ImmutableSampleReport(com.hartwig.hmftools.patientreporter.ImmutableSampleReport) SampleReport(com.hartwig.hmftools.patientreporter.SampleReport) StructuralVariantAnalysis(com.hartwig.hmftools.svannotation.analysis.StructuralVariantAnalysis) GeneDisruptionData(com.hartwig.hmftools.patientreporter.report.data.GeneDisruptionData) Lims(com.hartwig.hmftools.common.lims.Lims) VariantReport(com.hartwig.hmftools.patientreporter.variants.VariantReport) Alteration(com.hartwig.hmftools.patientreporter.report.data.Alteration) GeneFusionData(com.hartwig.hmftools.patientreporter.report.data.GeneFusionData) ImmutablePurpleAnalysis(com.hartwig.hmftools.patientreporter.copynumber.ImmutablePurpleAnalysis) PurpleAnalysis(com.hartwig.hmftools.patientreporter.copynumber.PurpleAnalysis) VariantAnalysis(com.hartwig.hmftools.patientreporter.variants.VariantAnalysis) StructuralVariantAnalysis(com.hartwig.hmftools.svannotation.analysis.StructuralVariantAnalysis) RunContext(com.hartwig.hmftools.common.context.RunContext) TumorLocationDoidMapping(com.hartwig.hmftools.common.ecrf.doid.TumorLocationDoidMapping) NotNull(org.jetbrains.annotations.NotNull)

Aggregations

RunContext (com.hartwig.hmftools.common.context.RunContext)1 TumorLocationDoidMapping (com.hartwig.hmftools.common.ecrf.doid.TumorLocationDoidMapping)1 Lims (com.hartwig.hmftools.common.lims.Lims)1 ImmutableSampleReport (com.hartwig.hmftools.patientreporter.ImmutableSampleReport)1 SampleReport (com.hartwig.hmftools.patientreporter.SampleReport)1 ImmutablePurpleAnalysis (com.hartwig.hmftools.patientreporter.copynumber.ImmutablePurpleAnalysis)1 PurpleAnalysis (com.hartwig.hmftools.patientreporter.copynumber.PurpleAnalysis)1 Alteration (com.hartwig.hmftools.patientreporter.report.data.Alteration)1 GeneDisruptionData (com.hartwig.hmftools.patientreporter.report.data.GeneDisruptionData)1 GeneFusionData (com.hartwig.hmftools.patientreporter.report.data.GeneFusionData)1 VariantAnalysis (com.hartwig.hmftools.patientreporter.variants.VariantAnalysis)1 VariantReport (com.hartwig.hmftools.patientreporter.variants.VariantReport)1 StructuralVariantAnalysis (com.hartwig.hmftools.svannotation.analysis.StructuralVariantAnalysis)1 NotNull (org.jetbrains.annotations.NotNull)1