Examples with EfoTrait uk.ac.ebi.spot.goci.model.EfoTrait used on opensource projects

Example 1 with EfoTrait

use of uk.ac.ebi.spot.goci.model.EfoTrait in project goci by EBISPOT.

the class TraitEnrichmentService method doEnrichment.

@Override
public void doEnrichment(DiseaseTraitDocument document) {
    long id = Long.valueOf(document.getId().split(":")[1]);
    studyService.findByDiseaseTraitId(id).forEach(study -> {
        document.embed(new StudyDocument(study));
        Set<EfoTrait> efoTraits = new HashSet<>();
        traitService.findMappedTraitByStudyId(study.getId()).forEach(efoTraits::add);
        efoTraits.forEach(trait -> {
            document.embed(new EfoDocument(trait));
            associationService.findPublishedAssociationsByEfoTraitId(trait.getId()).forEach(association -> document.embed(new AssociationDocument(association)));
        });
    });
}

Example 2 with EfoTrait

use of uk.ac.ebi.spot.goci.model.EfoTrait in project goci by EBISPOT.

the class AssociationAttributeService method getEfoTraitsFromRepository.

public Collection<EfoTrait> getEfoTraitsFromRepository(Collection<String> efoUris) {
    Collection<EfoTrait> efoTraits = new ArrayList<>();
    for (String uri : efoUris) {
        String fullUri;
        if (uri.contains("EFO")) {
            fullUri = "http://www.ebi.ac.uk/efo/".concat(uri);
        } else if (uri.contains("Orphanet")) {
            fullUri = "http://www.orpha.net/ORDO/".concat(uri);
        } else {
            fullUri = "http://purl.obolibrary.org/obo/".concat(uri);
        }
        Collection<EfoTrait> traits = efoTraitRepository.findByUri(fullUri);
        for (EfoTrait trait : traits) {
            efoTraits.add(trait);
        }
    }
    return efoTraits;
}

Example 3 with EfoTrait

use of uk.ac.ebi.spot.goci.model.EfoTrait in project goci by EBISPOT.

the class DefaultGWASOWLConverter method convertAssociation.

protected void convertAssociation(Association association, OWLOntology ontology, Set<String> issuedWarnings) {
    // get the trait association class
    OWLClass taClass = getDataFactory().getOWLClass(IRI.create(OntologyConstants.TRAIT_ASSOCIATION_CLASS_IRI));
    IRI taIndIRI = getMinter().mint(OntologyConstants.GWAS_ONTOLOGY_BASE_IRI, association);
    // create a new trait association instance
    OWLNamedIndividual taIndiv = getDataFactory().getOWLNamedIndividual(taIndIRI);
    // assert class membership
    OWLClassAssertionAxiom classAssertion = getDataFactory().getOWLClassAssertionAxiom(taClass, taIndiv);
    getManager().addAxiom(ontology, classAssertion);
    // get datatype relations
    OWLDataProperty has_p_value = getDataFactory().getOWLDataProperty(IRI.create(OntologyConstants.HAS_P_VALUE_PROPERTY_IRI));
    // get annotation relations
    OWLAnnotationProperty rdfsLabel = getDataFactory().getOWLAnnotationProperty(OWLRDFVocabulary.RDFS_LABEL.getIRI());
    //pvalue but says it was less then 10-6. So if we have no pvalue we just don't add it.
    if (association.getPvalueMantissa() != null && association.getPvalueExponent() != null) {
        double pval = association.getPvalueMantissa() * Math.pow(10, association.getPvalueExponent());
        OWLLiteral pValue = getDataFactory().getOWLLiteral(pval);
        //            OWLLiteral pValue = getDataFactory().getOWLLiteral(association.getPvalueMantissa()+"e"+association.getPvalueExponent());
        OWLDataPropertyAssertionAxiom p_value_relation = getDataFactory().getOWLDataPropertyAssertionAxiom(has_p_value, taIndiv, pValue);
        AddAxiom add_p_value = new AddAxiom(ontology, p_value_relation);
        getManager().applyChange(add_p_value);
    }
    // get the snp instance for this association
    OWLNamedIndividual snpIndiv;
    String rsId = null;
    for (Locus locus : association.getLoci()) {
        for (RiskAllele riskAllele : locus.getStrongestRiskAlleles()) {
            SingleNucleotidePolymorphism snp = riskAllele.getSnp();
            rsId = snp.getRsId();
            snpIndiv = getDataFactory().getOWLNamedIndividual(getMinter().mint(OntologyConstants.GWAS_ONTOLOGY_BASE_IRI, snp));
            if (snpIndiv == null) {
                String warning = "A new SNP with the given RSID only will be created";
                if (!issuedWarnings.contains(warning)) {
                    getLog().warn(warning);
                    issuedWarnings.add(warning);
                }
                snpIndiv = getDataFactory().getOWLNamedIndividual(getMinter().mint(OntologyConstants.GWAS_ONTOLOGY_BASE_IRI, "SingleNucleotidePolymorphism", snp.getRsId(), true));
                // assert class membership
                OWLClass snpClass = getDataFactory().getOWLClass(IRI.create(OntologyConstants.SNP_CLASS_IRI));
                OWLClassAssertionAxiom snpClassAssertion = getDataFactory().getOWLClassAssertionAxiom(snpClass, snpIndiv);
                getManager().addAxiom(ontology, snpClassAssertion);
                // assert rsid relation
                OWLDataProperty has_snp_rsid = getDataFactory().getOWLDataProperty(IRI.create(OntologyConstants.HAS_SNP_REFERENCE_ID_PROPERTY_IRI));
                OWLLiteral rsid = getDataFactory().getOWLLiteral(snp.getRsId());
                OWLDataPropertyAssertionAxiom rsid_relation = getDataFactory().getOWLDataPropertyAssertionAxiom(has_snp_rsid, snpIndiv, rsid);
                AddAxiom add_rsid = new AddAxiom(ontology, rsid_relation);
                getManager().applyChange(add_rsid);
                // assert label
                OWLAnnotationAssertionAxiom snp_label_annotation = getDataFactory().getOWLAnnotationAssertionAxiom(rdfsLabel, snpIndiv.getIRI(), rsid);
                AddAxiom add_snp_label = new AddAxiom(ontology, snp_label_annotation);
                getManager().applyChange(add_snp_label);
            }
            // get object properties
            OWLObjectProperty has_subject = getDataFactory().getOWLObjectProperty(IRI.create(OntologyConstants.HAS_SUBJECT_IRI));
            OWLObjectProperty is_subject_of = getDataFactory().getOWLObjectProperty(IRI.create(OntologyConstants.IS_SUBJECT_OF_IRI));
            // assert relations
            OWLObjectPropertyAssertionAxiom has_subject_snp_relation = getDataFactory().getOWLObjectPropertyAssertionAxiom(has_subject, taIndiv, snpIndiv);
            AddAxiom add_has_subject_snp = new AddAxiom(ontology, has_subject_snp_relation);
            getManager().applyChange(add_has_subject_snp);
            OWLObjectPropertyAssertionAxiom is_subject_of_snp_relation = getDataFactory().getOWLObjectPropertyAssertionAxiom(is_subject_of, snpIndiv, taIndiv);
            AddAxiom add_is_subject_of_snp = new AddAxiom(ontology, is_subject_of_snp_relation);
            getManager().applyChange(add_is_subject_of_snp);
        }
        // get the EFO class for the trait
        for (EfoTrait efoTrait : association.getEfoTraits()) {
            OWLClass traitClass;
            traitClass = getDataFactory().getOWLClass(IRI.create(efoTrait.getUri()));
            if (traitClass == null) {
                String warning = "This trait will be mapped to Experimental Factor";
                if (!issuedWarnings.contains(warning)) {
                    getLog().warn(warning);
                    issuedWarnings.add(warning);
                }
                traitClass = getDataFactory().getOWLClass(IRI.create(OntologyConstants.EXPERIMENTAL_FACTOR_CLASS_IRI));
            }
            // create a new trait instance (puns the class)
            IRI traitIRI = traitClass.getIRI();
            OWLNamedIndividual traitIndiv = getDataFactory().getOWLNamedIndividual(traitIRI);
            if (ontology.containsIndividualInSignature(traitIRI)) {
                getLog().trace("Trait individual '" + traitIRI.toString() + "' (type: " + traitClass + ") already exists");
            } else {
                getLog().trace("Creating trait individual '" + traitIRI.toString() + "' (type: " + traitClass + ")");
            }
            // and also add the gwas label to the individual so we don't lose curated data
            OWLDataProperty has_gwas_trait_name = getDataFactory().getOWLDataProperty(IRI.create(OntologyConstants.HAS_GWAS_TRAIT_NAME_PROPERTY_IRI));
            OWLLiteral gwasTrait = getDataFactory().getOWLLiteral(association.getStudy().getDiseaseTrait().getTrait());
            OWLDataPropertyAssertionAxiom gwas_trait_relation = getDataFactory().getOWLDataPropertyAssertionAxiom(has_gwas_trait_name, taIndiv, gwasTrait);
            AddAxiom add_gwas_trait_name = new AddAxiom(ontology, gwas_trait_relation);
            getManager().applyChange(add_gwas_trait_name);
            // assert class membership
            OWLClassAssertionAxiom traitClassAssertion = getDataFactory().getOWLClassAssertionAxiom(traitClass, traitIndiv);
            getManager().addAxiom(ontology, traitClassAssertion);
            // get object properties
            OWLObjectProperty has_object = getDataFactory().getOWLObjectProperty(IRI.create(OntologyConstants.HAS_OBJECT_IRI));
            OWLObjectProperty is_object_of = getDataFactory().getOWLObjectProperty(IRI.create(OntologyConstants.IS_OBJECT_OF_IRI));
            // assert relations
            OWLObjectPropertyAssertionAxiom has_object_trait_relation = getDataFactory().getOWLObjectPropertyAssertionAxiom(has_object, taIndiv, traitIndiv);
            AddAxiom add_has_object_trait = new AddAxiom(ontology, has_object_trait_relation);
            getManager().applyChange(add_has_object_trait);
            OWLObjectPropertyAssertionAxiom is_object_of_trait_relation = getDataFactory().getOWLObjectPropertyAssertionAxiom(is_object_of, traitIndiv, taIndiv);
            AddAxiom add_is_object_of_trait = new AddAxiom(ontology, is_object_of_trait_relation);
            getManager().applyChange(add_is_object_of_trait);
        }
        // finally, assert label for this association
        OWLLiteral label = getDataFactory().getOWLLiteral("Association between " + rsId + " and " + association.getStudy().getDiseaseTrait().getTrait());
        OWLAnnotationAssertionAxiom label_annotation = getDataFactory().getOWLAnnotationAssertionAxiom(rdfsLabel, taIndiv.getIRI(), label);
        AddAxiom add_band_label = new AddAxiom(ontology, label_annotation);
        getManager().applyChange(add_band_label);
    }
}

Example 4 with EfoTrait

use of uk.ac.ebi.spot.goci.model.EfoTrait in project goci by EBISPOT.

the class DefaultGWASOWLPublisher method validateGWASData.

/**
     * Validates the data obtained from the GWAS catalog (prior to converting to OWL)
     *
     * @param studies the set of studies to validate
     */
protected void validateGWASData(Collection<Study> studies) {
    // now check a random assortment of 5 studies for trait associations, abandoning broken ones
    int count = 0;
    int noAssocCount = 0;
    int termMismatches = 0;
    for (Study study : studies) {
        //            try {
        Collection<Association> associations = study.getAssociations();
        getLog().debug("Study (PubMed ID '" + study.getPubmedId() + "') had " + associations.size() + " associations");
        if (associations.size() > 0) {
            for (Association association : associations) {
                String efoTraitsDashSepList = "";
                for (EfoTrait efoTrait : association.getEfoTraits()) {
                    if ("".equals(efoTraitsDashSepList)) {
                        efoTraitsDashSepList.concat(efoTrait.getTrait());
                    } else {
                        efoTraitsDashSepList.concat(", " + efoTrait.getTrait());
                    }
                }
                for (Locus locus : association.getLoci()) {
                    for (RiskAllele riskAllele : locus.getStrongestRiskAlleles()) {
                        getLog().debug(//                                "    Association: SNP '" + association.getAssociatedSNP().getRSID() +
                        "    Association: SNP '" + riskAllele.getSnp().getRsId() + "' <-> Trait '" + efoTraitsDashSepList.toString() + "'");
                    }
                }
            }
            count++;
        } else {
            noAssocCount++;
        }
    }
    int eligCount = studies.size() - noAssocCount;
    int correctCount = count + termMismatches;
    getLog().info("\n\nREPORT:\n" + eligCount + "/" + studies.size() + " declared associations and therefore could usefully be mapped.\n" + (eligCount - count - termMismatches) + "/" + eligCount + " failed due to data integrity concerns.\n" + count + "/" + correctCount + " studies could be completely mapped after passing all checks.\n" + termMismatches + "/" + correctCount + " failed due to missing or duplicated terms in EFO");
}

Example 5 with EfoTrait

use of uk.ac.ebi.spot.goci.model.EfoTrait in project goci by EBISPOT.

the class SnpAssociationTableViewService method createSnpAssociationTableView.

/**
     * Create object, from Association, that will be returned to view
     *
     * @param association Association object
     */
public SnpAssociationTableView createSnpAssociationTableView(Association association) {
    SnpAssociationTableView snpAssociationTableView = new SnpAssociationTableView();
    // For SNP interaction studies snp, proxy snps, risk alleles etc
    // should be separated by an 'x'
    String delimiter = "; ";
    if (association.getSnpInteraction()) {
        delimiter = " x ";
    }
    snpAssociationTableView.setAssociationId(association.getId());
    // For each locus relevant attributes
    Collection<Locus> loci = association.getLoci();
    Collection<String> allLociGenes = new ArrayList<>();
    Collection<String> allLociRiskAlleles = new ArrayList<String>();
    Collection<String> allLociSnps = new ArrayList<String>();
    Collection<String> allLociProxySnps = new ArrayList<String>();
    Collection<String> allLociRiskAlleleFrequencies = new ArrayList<String>();
    Collection<String> allLociSnpStatuses = new ArrayList<String>();
    // By looking at each locus in turn we can keep order in view
    for (Locus locus : loci) {
        // Store gene names, a locus can have a number of genes attached.
        // Per locus create a comma separated list and add to an array.
        // Further processing will then delimit this list
        // either by ; or 'x' depending on association type
        Collection<String> currentlocusGenes = new ArrayList<>();
        String commaSeparatedGenes = "";
        for (Gene gene : locus.getAuthorReportedGenes()) {
            currentlocusGenes.add(gene.getGeneName());
        }
        if (!currentlocusGenes.isEmpty()) {
            commaSeparatedGenes = String.join(", ", currentlocusGenes);
            allLociGenes.add(commaSeparatedGenes);
        } else {
            allLociGenes.add("NR");
        }
        //This sort ensures that haplotype SNPs are displayed in the correct order
        Collection<RiskAllele> ra = locus.getStrongestRiskAlleles().stream().sorted((v1, v2) -> Long.compare(v1.getId(), v2.getId())).collect(Collectors.toList());
        for (RiskAllele riskAllele : ra) {
            allLociRiskAlleles.add(riskAllele.getRiskAlleleName());
            // Based on assumption we only have one locus with a single risk allele attached
            if (!association.getMultiSnpHaplotype() && !association.getSnpInteraction()) {
                if (riskAllele.getRiskFrequency() != null && !riskAllele.getRiskFrequency().isEmpty()) {
                    allLociRiskAlleleFrequencies.add(riskAllele.getRiskFrequency());
                }
            }
            // SNPs attached to risk allele
            SingleNucleotidePolymorphism snp = riskAllele.getSnp();
            allLociSnps.add(snp.getRsId());
            // Set proxies if present
            Collection<String> currentLocusProxies = new ArrayList<>();
            String commaSeparatedProxies = "";
            if (riskAllele.getProxySnps() != null) {
                for (SingleNucleotidePolymorphism proxySnp : riskAllele.getProxySnps()) {
                    currentLocusProxies.add(proxySnp.getRsId());
                }
            }
            // Comma separate proxies in view
            if (!currentLocusProxies.isEmpty()) {
                commaSeparatedProxies = String.join(", ", currentLocusProxies);
                allLociProxySnps.add(commaSeparatedProxies);
            } else {
                allLociProxySnps.add("NR");
            }
            // Only required for SNP interaction studies
            if (association.getSnpInteraction() != null) {
                if (association.getSnpInteraction()) {
                    // Genome wide Vs Limited List
                    Collection<String> snpStatus = new ArrayList<>();
                    String commaSeparatedSnpStatus = "";
                    if (riskAllele.getLimitedList() != null) {
                        if (riskAllele.getLimitedList()) {
                            snpStatus.add("LL");
                        }
                    }
                    if (riskAllele.getGenomeWide() != null) {
                        if (riskAllele.getGenomeWide()) {
                            snpStatus.add("GW");
                        }
                    }
                    if (!snpStatus.isEmpty()) {
                        commaSeparatedSnpStatus = String.join(", ", snpStatus);
                        allLociSnpStatuses.add(commaSeparatedSnpStatus);
                    } else {
                        allLociSnpStatuses.add("NR");
                    }
                    // Allele risk frequency
                    if (riskAllele.getRiskFrequency() != null && !riskAllele.getRiskFrequency().isEmpty()) {
                        allLociRiskAlleleFrequencies.add(riskAllele.getRiskFrequency());
                    } else {
                        allLociRiskAlleleFrequencies.add("NR");
                    }
                }
            }
        }
    }
    // Create delimited strings for view
    String authorReportedGenes = null;
    if (allLociGenes.size() > 1) {
        authorReportedGenes = String.join(delimiter, allLociGenes);
    } else {
        authorReportedGenes = String.join("", allLociGenes);
    }
    snpAssociationTableView.setAuthorReportedGenes(authorReportedGenes);
    String strongestRiskAlleles = null;
    if (allLociRiskAlleles.size() > 1) {
        strongestRiskAlleles = String.join(delimiter, allLociRiskAlleles);
    } else {
        strongestRiskAlleles = String.join("", allLociRiskAlleles);
    }
    snpAssociationTableView.setStrongestRiskAlleles(strongestRiskAlleles);
    String associationSnps = null;
    if (allLociSnps.size() > 1) {
        associationSnps = String.join(delimiter, allLociSnps);
    } else {
        associationSnps = String.join("", allLociSnps);
    }
    snpAssociationTableView.setSnps(associationSnps);
    String associationProxies = null;
    if (allLociProxySnps.size() > 1) {
        associationProxies = String.join(delimiter, allLociProxySnps);
    } else {
        associationProxies = String.join("", allLociProxySnps);
    }
    snpAssociationTableView.setProxySnps(associationProxies);
    // Set both risk frequencies
    String associationRiskAlleleFrequencies = null;
    if (allLociRiskAlleleFrequencies.size() > 1) {
        associationRiskAlleleFrequencies = String.join(delimiter, allLociRiskAlleleFrequencies);
    } else {
        associationRiskAlleleFrequencies = String.join("", allLociRiskAlleleFrequencies);
    }
    snpAssociationTableView.setRiskAlleleFrequencies(associationRiskAlleleFrequencies);
    snpAssociationTableView.setAssociationRiskFrequency(association.getRiskFrequency());
    String associationSnpStatuses = null;
    if (allLociSnpStatuses.size() > 1) {
        associationSnpStatuses = String.join(delimiter, allLociSnpStatuses);
    } else {
        associationSnpStatuses = String.join("", allLociSnpStatuses);
    }
    snpAssociationTableView.setSnpStatuses(associationSnpStatuses);
    snpAssociationTableView.setPvalueMantissa(association.getPvalueMantissa());
    snpAssociationTableView.setPvalueExponent(association.getPvalueExponent());
    snpAssociationTableView.setPvalueDescription(association.getPvalueDescription());
    Collection<String> efoTraits = new ArrayList<>();
    for (EfoTrait efoTrait : association.getEfoTraits()) {
        efoTraits.add(efoTrait.getTrait());
    }
    String associationEfoTraits = null;
    associationEfoTraits = String.join(", ", efoTraits);
    snpAssociationTableView.setEfoTraits(associationEfoTraits);
    // Set OR values
    snpAssociationTableView.setOrPerCopyNum(association.getOrPerCopyNum());
    snpAssociationTableView.setOrPerCopyRecip(association.getOrPerCopyRecip());
    snpAssociationTableView.setOrPerCopyRecipRange(association.getOrPerCopyRecipRange());
    // Set beta values
    snpAssociationTableView.setBetaNum(association.getBetaNum());
    snpAssociationTableView.setBetaDirection(association.getBetaDirection());
    snpAssociationTableView.setBetaUnit(association.getBetaUnit());
    snpAssociationTableView.setRange(association.getRange());
    snpAssociationTableView.setDescription(association.getDescription());
    snpAssociationTableView.setStandardError(association.getStandardError());
    snpAssociationTableView.setAssociationType(association.getSnpType());
    if (association.getMultiSnpHaplotype() != null) {
        if (association.getMultiSnpHaplotype()) {
            snpAssociationTableView.setMultiSnpHaplotype("Yes");
        }
        if (!association.getMultiSnpHaplotype()) {
            snpAssociationTableView.setMultiSnpHaplotype("No");
        }
    }
    if (association.getSnpInteraction() != null) {
        if (association.getSnpInteraction()) {
            snpAssociationTableView.setSnpInteraction("Yes");
        }
        if (!association.getSnpInteraction()) {
            snpAssociationTableView.setSnpInteraction("No");
        }
    }
    if (association.getSnpApproved() != null) {
        if (association.getSnpApproved()) {
            snpAssociationTableView.setSnpApproved("Yes");
        }
        if (!association.getSnpApproved()) {
            snpAssociationTableView.setSnpApproved("No");
        }
    }
    // Get validation warnings
    snpAssociationTableView.setValidationWarnings(associationValidationReportService.getWarningSet(association.getId()));
    // Get mapping details
    if (association.getLastMappingPerformedBy() != null) {
        snpAssociationTableView.setLastMappingPerformedBy(association.getLastMappingPerformedBy());
    }
    snpAssociationTableView.setMappingStatus("false");
    if (association.getLastMappingDate() != null) {
        snpAssociationTableView.setMappingStatus("true");
    }
    if (association.getLastMappingDate() != null) {
        DateFormat df = new SimpleDateFormat("dd-MMM-yyyy HH:mm:ss");
        String dateOfLastMapping = df.format(association.getLastMappingDate());
        snpAssociationTableView.setLastMappingDate(dateOfLastMapping);
    }
    return snpAssociationTableView;
}