Esempio n. 1
0
class TestGwasHaplotypeModel(unittest.TestCase):
    """
    Test the modelling of a  SNP to trait association
    from sample GWAS catalog data
    """
    def setUp(self):
        self.source = GWASCatalog('rdf_graph', True)
        self.test_data = {
            'snp_label': 'rs1329573-?; rs7020413-?; rs3824344-?; rs3758171-?',
            'chrom_num': '9;9;9;9',
            'chrom_pos': '36998996;37002118;37000690;36997420',
            'context':
            'intron_variant; intron_variant; intron_variant; intron_variant',
            'allele_freq': 'NR',
            'trait': 'Intelligence',
            'trait_uri': 'http://www.ebi.ac.uk/efo/EFO_0004337',
            'pvalue': '0.00000004',
            'merged': '0',
            'snp_id_current': '',
            'mapped_gene': 'PAX5; PAX5; PAX5; PAX5',
            'snp_gene_nums': '',
            'upstream_gene_num': '107986179',
            'downstream_gene_num': '107986180',
            'init_sample_desc':
            '656 European ancestry individuals from ADHD families',
            'replicated_sample_desc': 'NA',
            'platform': 'Illumina [795637]',
            'pubmed': '22449649'
        }

    def tearDown(self):
        self.source = None

    def test_snp_model(self):
        """
        Test output model of _process_haplotype()
        self._process_haplotype(
                            variant_curie, strongest_snp_risk_allele,
                            chrom_num, chrom_pos, context,
                            risk_allele_frequency, mapped_gene, so_ontology)
        """
        variant_curie, variant_type = \
            self.source._get_curie_and_type_from_id(self.test_data['snp_label'])

        so_ontology = RDFGraph()
        logger.info("Loading SO ontology in separate rdf graph")
        so_ontology.parse(self.source.files['so']['url'], format='xml')
        so_ontology.bind_all_namespaces()
        logger.info("Finished loading SO ontology")

        self.source._process_haplotype(
            variant_curie, self.test_data['snp_label'],
            self.test_data['chrom_num'], self.test_data['chrom_pos'],
            self.test_data['context'], self.test_data['allele_freq'],
            self.test_data['mapped_gene'], so_ontology)

        sparql_query = """
            SELECT ?snp
            WHERE {
                :haplotype_bcb627b1f64039b0 a OBO:GENO_0000871 ;
                    rdfs:label "rs1329573-?; rs7020413-?; rs3824344-?; rs3758171-?" ;
                    OBO:GENO_0000382 ?snp,
                        dbSNP:rs3758171,
                        dbSNP:rs3824344,
                        dbSNP:rs7020413 ;
                OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                OBO:RO_0002162 OBO:NCBITaxon_9606 .

                ?snp a OBO:SO_0000694,
                        OBO:SO_0001627 ;
                    rdfs:label "rs1329573-?" ;
                    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996-36998996-Region> ;
                    OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                    OBO:RO_0002162 OBO:NCBITaxon_9606 .

                dbSNP:rs3758171 a OBO:SO_0000694,
                        OBO:SO_0001627 ;
                    rdfs:label "rs3758171-?" ;
                    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420-36997420-Region> ;
                    OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                    OBO:RO_0002162 OBO:NCBITaxon_9606 .

                dbSNP:rs3824344 a OBO:SO_0000694,
                        OBO:SO_0001627 ;
                    rdfs:label "rs3824344-?" ;
                    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690-37000690-Region> ;
                    OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                    OBO:RO_0002162 OBO:NCBITaxon_9606 .

                dbSNP:rs7020413 a OBO:SO_0000694,
                        OBO:SO_0001627 ;
                    rdfs:label "rs7020413-?" ;
                    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118-37002118-Region> ;
                    OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                    OBO:RO_0002162 OBO:NCBITaxon_9606 .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420-36997420-Region> a faldo:Region ;
                    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420> ;
                    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420> .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996-36998996-Region> a faldo:Region ;
                    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996> ;
                    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996> .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690-37000690-Region> a faldo:Region ;
                    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690> ;
                    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690> .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118-37002118-Region> a faldo:Region ;
                    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118> ;
                    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118> .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420> a faldo:Position ;
                    faldo:position 36997420 ;
                    faldo:reference OBO:CHR_GRCh38chr9 .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996> a faldo:Position ;
                    faldo:position 36998996 ;
                    faldo:reference OBO:CHR_GRCh38chr9 .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690> a faldo:Position ;
                    faldo:position 37000690 ;
                    faldo:reference OBO:CHR_GRCh38chr9 .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118> a faldo:Position ;
                    faldo:position 37002118 ;
                    faldo:reference OBO:CHR_GRCh38chr9 .
            }
        """
        sparql_output = self.source.graph.query(sparql_query)
        # Test that query passes and returns one row
        results = list(sparql_output)
        expected = [(URIRef(self.source.graph._getNode("dbSNP:rs1329573")), )]
        self.assertEqual(results, expected)
Esempio n. 2
0
class TestGwasHaplotypeModel(unittest.TestCase):
    """
    Test the modelling of a  SNP to trait association
    from sample GWAS catalog data
    """
    def setUp(self):
        self.test_util = TestUtils()
        self.source = GWASCatalog('rdf_graph', True)
        self.source.graph = RDFGraph(True)
        self.test_data = {
            'snp_label': 'rs1329573-?; rs7020413-?; rs3824344-?; rs3758171-?',
            'chrom_num': '9;9;9;9',
            'chrom_pos': '36998996;37002118;37000690;36997420',
            'context':
            'intron_variant; intron_variant; intron_variant; intron_variant',
            'allele_freq': 'NR',
            'trait': 'Intelligence',
            'trait_uri': 'http://www.ebi.ac.uk/efo/EFO_0004337',
            'pvalue': '0.00000004',
            'merged': '0',
            'snp_id_current': '',
            'mapped_gene': 'PAX5; PAX5; PAX5; PAX5',
            'snp_gene_nums': '',
            'upstream_gene_num': '107986179',
            'downstream_gene_num': '107986180',
            'init_sample_desc':
            '656 European ancestry individuals from ADHD families',
            'replicated_sample_desc': 'NA',
            'platform': 'Illumina [795637]',
            'pubmed': '22449649'
        }

    def tearDown(self):
        self.source = None

    def test_snp_model(self):
        """
        Test output model of _process_haplotype()
        self._process_haplotype(
            variant_curie, strongest_snp_risk_allele,
            chrom_num, chrom_pos, context,
            risk_allele_frequency, mapped_gene, so_ontology)
        """
        self.assertTrue(len(list(self.source.graph)) == 0)
        variant_curie, variant_type = self.source._get_curie_and_type_from_id(
            self.test_data['snp_label'])

        so_ontology = RDFGraph()
        LOG.info("Loading SO ontology in separate rdf graph")
        so_ontology.parse(self.source.files['so']['url'], format='xml')
        so_ontology.bind_all_namespaces()
        LOG.info("Finished loading SO ontology")

        self.source._process_haplotype(
            variant_curie, self.test_data['snp_label'],
            self.test_data['chrom_num'], self.test_data['chrom_pos'],
            self.test_data['context'], self.test_data['allele_freq'],
            self.test_data['mapped_gene'], so_ontology)

        triples = """
:haplotype_bb627b1f64039b0f751a a SO:0001024 ;
    rdfs:label "rs1329573-?; rs7020413-?; rs3824344-?; rs3758171-?" ;
    GENO:0000382 dbSNP:rs1329573,
        dbSNP:rs3758171,
        dbSNP:rs3824344,
        dbSNP:rs7020413 ;
    GENO:0000418 HGNC:8619 ;
    RO:0002162 NCBITaxon:9606 .

dbSNP:rs1329573 a SO:0000694,
        SO:0001627 ;
    rdfs:label "rs1329573-?" ;
    faldo:location <https://monarchinitiative.org/.well-known/genid/b3fad5df82cdfb283329> ;
    GENO:0000418 HGNC:8619 ;
    RO:0002162 NCBITaxon:9606 .

dbSNP:rs3758171 a SO:0000694,
        SO:0001627 ;
    rdfs:label "rs3758171-?" ;
    faldo:location <https://monarchinitiative.org/.well-known/genid/b25a2da36647bdd71be3> ;
    GENO:0000418 HGNC:8619 ;
    RO:0002162 NCBITaxon:9606 .

dbSNP:rs3824344 a SO:0000694,
        OBO:SO_0001627 ;
    rdfs:label "rs3824344-?" ;
    faldo:location <https://monarchinitiative.org/.well-known/genid/b096a3e94e32fe23374a> ;
    GENO:0000418 HGNC:8619 ;
    RO:0002162 NCBITaxon:9606 .

dbSNP:rs7020413 a SO:0000694,
        SO:0001627 ;
    rdfs:label "rs7020413-?" ;
    faldo:location <https://monarchinitiative.org/.well-known/genid/bbb252d9b6cd02e9880a> ;
    GENO:0000418 HGNC:8619 ;
    RO:0002162 NCBITaxon:9606 .

<https://monarchinitiative.org/.well-known/genid/b25a2da36647bdd71be3> a faldo:Region ;
    rdfs:label "GRCh38chr9-36997420-36997420-Region";
    faldo:begin <https://monarchinitiative.org/.well-known/genid/b21985847fe0774084eb> ;
    faldo:end <https://monarchinitiative.org/.well-known/genid/b21985847fe0774084eb> .

<https://monarchinitiative.org/.well-known/genid/b3fad5df82cdfb283329> a faldo:Region ;
    rdfs:label "GRCh38chr9-36998996-36998996-Region";
    faldo:begin <https://monarchinitiative.org/.well-known/genid/b55051762f8d5a3dbeb5> ;
    faldo:end <https://monarchinitiative.org/.well-known/genid/b55051762f8d5a3dbeb5> .

<https://monarchinitiative.org/.well-known/genid/b096a3e94e32fe23374a> a faldo:Region ;
    rdfs:label "GRCh38chr9-37000690-37000690-Region";
    faldo:begin <https://monarchinitiative.org/.well-known/genid/b5d61dbc7958a979d046> ;
    faldo:end <https://monarchinitiative.org/.well-known/genid/b5d61dbc7958a979d046> .

<https://monarchinitiative.org/.well-known/genid/bbb252d9b6cd02e9880a> a faldo:Region ;
    rdfs:label "GRCh38chr9-37002118-37002118-Region";
    faldo:begin <https://monarchinitiative.org/.well-known/genid/bb870c3d7606a3e0fc3c> ;
    faldo:end <https://monarchinitiative.org/.well-known/genid/bb870c3d7606a3e0fc3c> .

<https://monarchinitiative.org/.well-known/genid/b21985847fe0774084eb> a faldo:Position ;
    rdfs:label "GRCh38chr9-36997420";
    faldo:position 36997420 ;
    faldo:reference OBO:CHR_GRCh38chr9 .

<https://monarchinitiative.org/.well-known/genid/b55051762f8d5a3dbeb5> a faldo:Position ;
    rdfs:label "GRCh38chr9-36998996";
    faldo:position 36998996 ;
    faldo:reference CHR:GRCh38chr9 .

<https://monarchinitiative.org/.well-known/genid/b5d61dbc7958a979d046> a faldo:Position ;
    rdfs:label "GRCh38chr9-37000690";
    faldo:position 37000690 ;
    faldo:reference CHR:GRCh38chr9 .

<https://monarchinitiative.org/.well-known/genid/bb870c3d7606a3e0fc3c> a faldo:Position ;
    rdfs:label "GRCh38chr9-37002118";
    faldo:position 37002118 ;
    faldo:reference CHR:GRCh38chr9 .
        """

        # dbg
        LOG.debug("Reference graph: %s",
                  self.source.graph.serialize(format="turtle").decode("utf-8"))

        self.assertTrue(
            self.test_util.test_graph_equality(triples, self.source.graph))
Esempio n. 3
0
class TestGwasHaplotypeModel(unittest.TestCase):
    """
    Test the modelling of a  SNP to trait association
    from sample GWAS catalog data
    """

    def setUp(self):
        self.test_util = TestUtils()
        self.source = GWASCatalog('rdf_graph', True)
        self.source.graph = RDFGraph(True)
        self.test_data = {
            'snp_label': 'rs1329573-?; rs7020413-?; rs3824344-?; rs3758171-?',
            'chrom_num': '9;9;9;9',
            'chrom_pos': '36998996;37002118;37000690;36997420',
            'context': 'intron_variant; intron_variant; intron_variant; intron_variant',
            'allele_freq': 'NR',
            'trait': 'Intelligence',
            'trait_uri': 'http://www.ebi.ac.uk/efo/EFO_0004337',
            'pvalue': '0.00000004',
            'merged': '0',
            'snp_id_current': '',
            'mapped_gene': 'PAX5; PAX5; PAX5; PAX5',
            'snp_gene_nums': '',
            'upstream_gene_num': '107986179',
            'downstream_gene_num': '107986180',
            'init_sample_desc': '656 European ancestry individuals from ADHD families',
            'replicated_sample_desc': 'NA',
            'platform': 'Illumina [795637]',
            'pubmed': '22449649'
        }

    def tearDown(self):
        self.source = None

    def test_snp_model(self):
        """
        Test output model of _process_haplotype()
        self._process_haplotype(
            variant_curie, strongest_snp_risk_allele,
            chrom_num, chrom_pos, context,
            risk_allele_frequency, mapped_gene, so_ontology)
        """
        self.assertTrue(len(list(self.source.graph)) == 0)
        variant_curie, variant_type = self.source._get_curie_and_type_from_id(
            self.test_data['snp_label'])

        so_ontology = RDFGraph()
        LOG.info("Loading SO ontology in separate rdf graph")
        so_ontology.parse(self.source.files['so']['url'], format='xml')
        so_ontology.bind_all_namespaces()
        LOG.info("Finished loading SO ontology")

        self.source._process_haplotype(
            variant_curie, self.test_data['snp_label'], self.test_data['chrom_num'],
            self.test_data['chrom_pos'], self.test_data['context'],
            self.test_data['allele_freq'], self.test_data['mapped_gene'], so_ontology)

        triples = """
:haplotype_bb627b1f64039b0f751a a OBO:GENO_0000871 ;
    rdfs:label "rs1329573-?; rs7020413-?; rs3824344-?; rs3758171-?" ;
    OBO:GENO_0000382 dbSNP:rs1329573,
        dbSNP:rs3758171,
        dbSNP:rs3824344,
        dbSNP:rs7020413 ;
    OBO:SO_0001627 HGNC:8619 ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

dbSNP:rs1329573 a OBO:SO_0000694,
        SO:0001627 ;
    rdfs:label "rs1329573-?" ;
    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996-36998996-Region> ;
    OBO:SO_0001627 HGNC:8619 ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

dbSNP:rs3758171 a OBO:SO_0000694,
        OBO:SO_0001627 ;
    rdfs:label "rs3758171-?" ;
    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420-36997420-Region> ;
    OBO:SO_0001627 HGNC:8619 ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

dbSNP:rs3824344 a OBO:SO_0000694,
        OBO:SO_0001627 ;
    rdfs:label "rs3824344-?" ;
    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690-37000690-Region> ;
    OBO:SO_0001627 HGNC:8619 ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

dbSNP:rs7020413 a OBO:SO_0000694,
        OBO:SO_0001627 ;
    rdfs:label "rs7020413-?" ;
    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118-37002118-Region> ;
    OBO:SO_0001627 HGNC:8619 ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420-36997420-Region> a faldo:Region ;
    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420> ;
    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420> .

<https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996-36998996-Region> a faldo:Region ;
    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996> ;
    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996> .

<https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690-37000690-Region> a faldo:Region ;
    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690> ;
    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690> .

<https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118-37002118-Region> a faldo:Region ;
    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118> ;
    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118> .

<https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420> a faldo:Position ;
    faldo:position 36997420 ;
    faldo:reference OBO:CHR_GRCh38chr9 .

<https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996> a faldo:Position ;
    faldo:position 36998996 ;
    faldo:reference OBO:CHR_GRCh38chr9 .

<https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690> a faldo:Position ;
    faldo:position 37000690 ;
    faldo:reference OBO:CHR_GRCh38chr9 .

<https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118> a faldo:Position ;
    faldo:position 37002118 ;
    faldo:reference OBO:CHR_GRCh38chr9 .
        """

        # dbg
        # LOG.debug(
        #    "Reference graph: %s",
        #   self.source.graph.serialize(format="turtle").decode("utf-8"))

        #  Does not seem to acknowlage these constant triples 
        self.assertTrue(self.test_util.test_graph_equality(triples, self.source.graph))
Esempio n. 4
0
class TestGwasHaplotypeModel(unittest.TestCase):
    """
    Test the modelling of a  SNP to trait association
    from sample GWAS catalog data
    """

    def setUp(self):
        self.source = GWASCatalog('rdf_graph', True)
        self.test_data = {
            'snp_label': 'rs1329573-?; rs7020413-?; rs3824344-?; rs3758171-?',
            'chrom_num': '9;9;9;9',
            'chrom_pos': '36998996;37002118;37000690;36997420',
            'context': 'intron_variant; intron_variant; intron_variant; intron_variant',
            'allele_freq': 'NR',
            'trait': 'Intelligence',
            'trait_uri': 'http://www.ebi.ac.uk/efo/EFO_0004337',
            'pvalue': '0.00000004',
            'merged': '0',
            'snp_id_current': '',
            'mapped_gene': 'PAX5; PAX5; PAX5; PAX5',
            'snp_gene_nums': '',
            'upstream_gene_num': '107986179',
            'downstream_gene_num': '107986180',
            'init_sample_desc': '656 European ancestry individuals from ADHD families',
            'replicated_sample_desc': 'NA',
            'platform': 'Illumina [795637]',
            'pubmed': '22449649'
        }

    def tearDown(self):
        self.source = None

    def test_snp_model(self):
        """
        Test output model of _process_haplotype()
        self._process_haplotype(
                            variant_curie, strongest_snp_risk_allele,
                            chrom_num, chrom_pos, context,
                            risk_allele_frequency, mapped_gene, so_ontology)
        """
        variant_curie, variant_type = \
            self.source._get_curie_and_type_from_id(self.test_data['snp_label'])

        so_ontology = RDFGraph()
        logger.info("Loading SO ontology in separate rdf graph")
        so_ontology.parse(self.source.files['so']['url'], format='xml')
        so_ontology.bind_all_namespaces()
        logger.info("Finished loading SO ontology")

        self.source._process_haplotype(
            variant_curie, self.test_data['snp_label'], self.test_data['chrom_num'],
            self.test_data['chrom_pos'], self.test_data['context'],
            self.test_data['allele_freq'], self.test_data['mapped_gene'], so_ontology)

        sparql_query = """
            SELECT ?snp
            WHERE {
                :haplotype_bcb627b1f64039b0 a OBO:GENO_0000871 ;
                    rdfs:label "rs1329573-?; rs7020413-?; rs3824344-?; rs3758171-?" ;
                    OBO:GENO_0000382 ?snp,
                        dbSNP:rs3758171,
                        dbSNP:rs3824344,
                        dbSNP:rs7020413 ;
                OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                OBO:RO_0002162 OBO:NCBITaxon_9606 .

                ?snp a OBO:SO_0000694,
                        OBO:SO_0001627 ;
                    rdfs:label "rs1329573-?" ;
                    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996-36998996-Region> ;
                    OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                    OBO:RO_0002162 OBO:NCBITaxon_9606 .

                dbSNP:rs3758171 a OBO:SO_0000694,
                        OBO:SO_0001627 ;
                    rdfs:label "rs3758171-?" ;
                    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420-36997420-Region> ;
                    OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                    OBO:RO_0002162 OBO:NCBITaxon_9606 .

                dbSNP:rs3824344 a OBO:SO_0000694,
                        OBO:SO_0001627 ;
                    rdfs:label "rs3824344-?" ;
                    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690-37000690-Region> ;
                    OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                    OBO:RO_0002162 OBO:NCBITaxon_9606 .

                dbSNP:rs7020413 a OBO:SO_0000694,
                        OBO:SO_0001627 ;
                    rdfs:label "rs7020413-?" ;
                    faldo:location <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118-37002118-Region> ;
                    OBO:GENO_0000418 <http://identifiers.org/hgnc/HGNC:8619> ;
                    OBO:RO_0002162 OBO:NCBITaxon_9606 .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420-36997420-Region> a faldo:Region ;
                    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420> ;
                    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420> .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996-36998996-Region> a faldo:Region ;
                    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996> ;
                    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996> .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690-37000690-Region> a faldo:Region ;
                    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690> ;
                    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690> .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118-37002118-Region> a faldo:Region ;
                    faldo:begin <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118> ;
                    faldo:end <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118> .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36997420> a faldo:Position ;
                    faldo:position 36997420 ;
                    faldo:reference OBO:CHR_GRCh38chr9 .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-36998996> a faldo:Position ;
                    faldo:position 36998996 ;
                    faldo:reference OBO:CHR_GRCh38chr9 .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37000690> a faldo:Position ;
                    faldo:position 37000690 ;
                    faldo:reference OBO:CHR_GRCh38chr9 .

                <https://monarchinitiative.org/.well-known/genid/GRCh38chr9-37002118> a faldo:Position ;
                    faldo:position 37002118 ;
                    faldo:reference OBO:CHR_GRCh38chr9 .
            }
        """
        sparql_output = self.source.graph.query(sparql_query)
        # Test that query passes and returns one row
        results = list(sparql_output)
        expected = [(URIRef(self.source.graph._getNode("dbSNP:rs1329573")),)]
        self.assertEqual(results, expected)