def hpo_to_tree(cls, hpo_terms, hpo_graph, tree, path):
tree_path = copy.copy(path)
tree_path.append(cls)
curie_util = CurieUtil(curie_map.get())
if cls not in hpo_terms:
hpo_terms[cls] = {
'label': hpo_graph.label(URIRef(curie_util.get_uri(cls)))
}
parents = hpo_graph.objects(URIRef(curie_util.get_uri(cls)),
RDFS.subClassOf)
hpo_terms[cls]['parents'] = len(list(parents))
lay_person = get_lay_person(cls, hpo_graph)
hpo_terms[cls]["lay_person"] = lay_person
# Traverse the tree to get to the input class
position = tree[tree_path[0]]
for term in tree_path[1:]:
position = position[term]
for sub_class in hpo_graph.subjects(
RDFS.subClassOf, URIRef(curie_util.get_uri(tree_path[-1]))):
curie = curie_util.get_curie(sub_class).replace("OBO:HP_", "HP:")
position[curie] = {}
hpo_to_tree(curie, hpo_terms, hpo_graph, tree, tree_path)
def setUp(self):
self.assoc_curie = 'MONARCH:test_association'
self.eco_id = 'ECO:0000015'
self.test_set_1 = (
'MGI:1920145', 'Setd5', 'WTSI', 'MEFW', 'male', 'heterozygote',
'MGI:4432631', 'Setd5<tm1a(EUCOMM)Wtsi>',
'targeted mutation 1a, Wellcome Trust Sanger Institute',
'MGI:2159965', 'C57BL/6N', 'MGP',
'Wellcome Trust Sanger Institute Mouse Genetics Project',
'MGP Select Pipeline', 'MGP_001', 'MGP_XRY_001', 'X-ray',
'IMPC_XRY_008_001', 'Number of ribs right', 'MP:0005390',
'skeleton phenotype', 'MP:0000480', 'increased rib number',
'1.637023E-010', '', '8.885439E-007',
'Wilcoxon rank sum test with continuity correction', 'IMPC')
# Generate test curies, these are otherwise generated
# within _add_evidence() and _add_study_provenance()
self.study_curie = "_:study"
self.evidence_curie = "_:evidence"
# IRIs for testing sparql output
curie_dict = curie_map.get()
curie_util = CurieUtil(curie_dict)
self.assoc_iri = URIRef(curie_util.get_uri(self.assoc_curie))
return
def setUp(self):
self.assoc_curie = 'MONARCH:test_association'
self.eco_id = 'ECO:0000015'
self.test_set_1 = ('MGI:1920145', 'Setd5', 'WTSI', 'MEFW', 'male',
'heterozygote', 'MGI:4432631', 'Setd5<tm1a(EUCOMM)Wtsi>',
'targeted mutation 1a, Wellcome Trust Sanger Institute',
'MGI:2159965', 'C57BL/6N', 'MGP',
'Wellcome Trust Sanger Institute Mouse Genetics Project',
'MGP Select Pipeline', 'MGP_001', 'MGP_XRY_001', 'X-ray',
'IMPC_XRY_008_001', 'Number of ribs right', 'MP:0005390',
'skeleton phenotype', 'MP:0000480', 'increased rib number',
'1.637023E-010', '', '8.885439E-007',
'Wilcoxon rank sum test with continuity correction', 'IMPC')
# Generate test curies, these are otherwise generated
# within _add_evidence() and _add_study_provenance()
self.study_curie = "_:study"
self.evidence_curie = "_:evidence"
# IRIs for testing sparql output
curie_dict = curie_map.get()
curie_util = CurieUtil(curie_dict)
self.assoc_iri = URIRef(curie_util.get_uri(self.assoc_curie))
return
def test_addGenotype(self):
cutil = CurieUtil(self.curie_map)
gid = 'MGI:5515892'
label = \
'Pmp22<Tr-2J>/Pmp22<+> [C57BL/6J-Pmp22<Tr-2J>/GrsrJ]'
self.genotype.addGenotype(gid, label)
self.assertTrue((URIRef(cutil.get_uri(gid)), RDFS['label'],
Literal(label)) in self.genotype.graph)
def test_addGenotype(self):
from rdflib.namespace import RDFS, URIRef
from rdflib import Literal
from dipper.utils.CurieUtil import CurieUtil
cutil = CurieUtil(self.curie_map)
gid = 'MGI:5515892'
label = \
'Pmp22<Tr-2J>/Pmp22<+> [C57BL/6J-Pmp22<Tr-2J>/GrsrJ]'
self.genotype.addGenotype(gid, label)
self.assertTrue((URIRef(cutil.get_uri(gid)), RDFS['label'],
Literal(label)) in self.genotype.graph)
def test_addGenotype(self):
from rdflib.namespace import RDFS,URIRef
from rdflib import Literal
from dipper.utils.CurieUtil import CurieUtil
cu = CurieUtil(self.curie_map)
id = 'MGI:5515892'
label = \
'Pmp22<Tr-2J>/Pmp22<+> [C57BL/6J-Pmp22<Tr-2J>/GrsrJ]'
self.genotype.addGenotype(id, label)
self.assertTrue((URIRef(cu.get_uri(id)), RDFS['label'],
Literal(label)) in self.genotype.graph)
def hpo_to_tree(cls, hpo_terms, hpo_graph, tree, path):
tree_path = copy.copy(path)
tree_path.append(cls)
curie_util = CurieUtil(curie_map.get())
if cls not in hpo_terms:
hpo_terms[cls] = {
'label': hpo_graph.label(URIRef(curie_util.get_uri(cls)))
}
parents = hpo_graph.objects(URIRef(curie_util.get_uri(cls)), RDFS.subClassOf)
hpo_terms[cls]['parents'] = len(list(parents))
lay_person = get_lay_person(cls, hpo_graph)
hpo_terms[cls]["lay_person"] = lay_person
# Traverse the tree to get to the input class
position = tree[tree_path[0]]
for term in tree_path[1:]:
position = position[term]
for sub_class in hpo_graph.subjects(RDFS.subClassOf, URIRef(curie_util.get_uri(tree_path[-1]))):
curie = curie_util.get_curie(sub_class).replace("OBO:HP_", "HP:")
position[curie] = {}
hpo_to_tree(curie, hpo_terms, hpo_graph, tree, tree_path)
def setUp(self):
self.curie_map = curie_map.get()
cu = CurieUtil(self.curie_map)
# Fake credentials as these tests do not require a database connection
database = 'foo'
user = '******'
password = '******'
self.cgd = CGD(database, user, password)
test_data = ((387, 'MLH1 any mutation', 13, 'Adenocarcinoma',
None, 'Colon', 'no response', 1,
'5FU-based adjuvant therapy', 'late trials', '20498393'),)
self.cgd.add_disease_drug_variant_to_graph(test_data)
(variant_key, variant_label, diagnoses_key, diagnoses,
specific_diagnosis, organ, relationship,
drug_key, drug, therapy_status, pubmed_id) = test_data[0]
source_id = "PMID:{0}".format(pubmed_id)
variant_id = self.cgd.make_cgd_id('variant{0}'.format(variant_key))
disease_id = self.cgd.make_cgd_id('disease{0}{1}'.format(diagnoses_key,
diagnoses))
relationship_id = "RO:has_environment"
disease_quality = ("CGD:{0}".format(relationship)).replace(" ", "_")
has_quality_property = "BFO:0000159"
drug_id = self.cgd.make_cgd_id('drug{0}'.format(drug_key))
disease_instance_id = self.cgd.make_cgd_id('phenotype{0}{1}{2}'.format(
diagnoses, variant_key, relationship))
variant_disease_annot = self.cgd.make_cgd_id("assoc{0}{1}".format(variant_key, diagnoses))
# Set up URIs
self.source_uri = URIRef(cu.get_uri(source_id))
self.variant_uri = URIRef(cu.get_uri(variant_id))
self.disease_uri = URIRef(cu.get_uri(disease_id))
self.disease_ind_uri = URIRef(cu.get_uri(disease_instance_id))
self.relationship_uri = URIRef(cu.get_uri(relationship_id))
self.drug_uri = URIRef(cu.get_uri(drug_id))
self.vd_annot_uri = URIRef(cu.get_uri(variant_disease_annot))
self.disease_quality_uri = URIRef(cu.get_uri(disease_quality))
self.variant_label = variant_label
self.disease_label = diagnoses
self.disease_instance_label = "{0} with {1} to therapy".format(diagnoses, relationship)
self.drug_label = drug
return
def _replace_entity(graph, old_id, new_id, bindings={}, is_property=False):
"""
Replace entity in graph
Replace one ID with another
:param graph rdflib.graph object
:param old_id, String curie,IRI, or literal to be replaced
:param new_id, String curie, IRI, or literal to replace the old id
:param bindings, Dict, dictionary of namespace prefixes
:param is_property, Boolean, is an id a property/predicate rather than
a class, individual, or literal
:return: None
"""
cu = CurieUtil(curie_map.get())
old_uri = URIRef(cu.get_uri(old_id))
new_uri = URIRef(cu.get_uri(new_id))
if is_property is False:
sparql_update = \
"""
DELETE {{ <{0}> ?pred ?obj }}
INSERT {{ <{1}> ?pred ?obj }}
WHERE {{ <{0}> ?pred ?obj }}
""".format(old_uri, new_uri)
graph.update(sparql_update, 'sparql', bindings)
sparql_update = \
"""
DELETE {{ ?sub ?pred <{0}> }}
INSERT {{ ?sub ?pred <{1}> }}
WHERE {{ ?sub ?pred <{0}> }}
""".format(old_uri, new_uri)
graph.update(sparql_update, 'sparql', bindings)
else:
sparql_update = \
"""
DELETE {{ ?sub <{0}> ?obj }}
INSERT {{ ?sub <{1}> ?obj }}
WHERE {{ ?sub <{0}> {?obj} }}
""".format(old_uri, new_uri)
graph.update(sparql_update, 'sparql', bindings)
return
def test_associations(self):
"""
Given the above sample input, produce the following:
CGD:VariantID has_phenotype(RO:0002200) CGD:DiseaseInstance
A CGD:AssociationID OBO:RO_0002558 Traceable Author Statement (ECO:0000033)
A CGD:AssociationID dc:source PMID:20498393
A CGD:AssociationID has_environment CGD:DrugID
A CGD:AssociationID OBAN:association_has_subject CGD:VariantID
A CGD:AssociationID OBAN:association_has_object_property has_phenotype
A CGD:AssociationID OBAN:association_has_object CGD:DiseaseInstance
"""
from dipper.utils.TestUtils import TestUtils
# Make testutils object and load bindings
cu = CurieUtil(self.curie_map)
test_env = TestUtils(self.cgd.graph)
self.cgd.load_bindings()
evidence = 'OBO:ECO_0000033'
evidence_uri = URIRef(cu.get_uri(evidence))
sparql_query = """
SELECT ?diseaseInd ?variant ?drug ?vdannot ?source ?evidence
WHERE {{
?variant OBO:RO_0002200 ?diseaseInd .
?vdannot a OBAN:association ;
OBO:RO_0002558 ?evidence ;
dc:source ?source ;
<{0}> ?drug ;
OBAN:association_has_object ?diseaseInd ;
OBAN:association_has_object_property OBO:RO_0002200 ;
OBAN:association_has_subject ?variant .
}}
""".format(self.relationship_uri)
# Expected Results
expected_results = [[self.disease_ind_uri, self.variant_uri, self.drug_uri,
self.vd_annot_uri,
self.source_uri, evidence_uri]]
# Query graph
sparql_output = test_env.query_graph(sparql_query)
self.assertEqual(expected_results, sparql_output)
class ModelTestCase(unittest.TestCase):
def setUp(self):
g = RDFGraph()
self.model = Model(g)
this_curie_map = curie_map.get()
self.cutil = CurieUtil(this_curie_map)
# stuff to make test triples
self.test_cat_subj_curie = "MGI:1234"
self.test_cat_subj = self.cutil.get_uri("MGI:1234")
self.test_cat_default_pred = self.cutil.get_uri("biolink:category")
self.test_named_indiv = self.cutil.get_uri("owl:NamedIndividual")
self.test_label_pred = self.cutil.get_uri("rdfs:label")
self.test_label = "some label"
self.test_comment_IRI = self.cutil.get_uri("rdfs:comment")
self.test_comment = 'bonus eruptus'
def tearDown(self):
self.graph = None
def test_addIndividualToGraph_assign_label(self):
self.model.addIndividualToGraph(self.test_cat_subj_curie, "some label")
label_triple = list(
self.model.graph.triples((URIRef(self.test_cat_subj),
URIRef(self.test_label_pred), None)))
self.assertEqual(len(label_triple), 1, "method didn't assign label")
self.assertEqual(str(label_triple[0][2]), self.test_label,
"method didn't assign correct label")
def test_addIndividualToGraph_assign_type_named_individual(self):
self.model.addIndividualToGraph(self.test_cat_subj_curie, "some label")
triples = list(
self.model.graph.triples((URIRef(self.test_cat_subj), None,
URIRef(self.test_named_indiv))))
self.assertEqual(len(triples), 1,
"method didn't assign type as named individual")
def test_addIndividualToGraph_assign_category(self):
self.model.addIndividualToGraph(self.test_cat_subj_curie,
"some label",
ind_category=blv.terms['Genotype'])
triples = list(
self.model.graph.triples(
(URIRef(self.test_cat_subj),
URIRef(self.test_cat_default_pred), None)))
self.assertEqual(len(triples), 1, "method didn't assign category")
def test_add_comment(self):
self.model.addComment(self.test_cat_subj, self.test_comment)
triples = list(
self.model.graph.triples(
(URIRef(self.test_cat_subj), URIRef(self.test_comment_IRI),
Literal(self.test_comment))))
self.assertEqual(len(triples), 1, "method didn't assign comment")
def test_add_comment_assign_subject_category(self):
self.model.addComment(self.test_cat_subj,
self.test_comment,
subject_category=blv.terms['Genotype'])
triples = list(
self.model.graph.triples(
(URIRef(self.test_cat_subj),
URIRef(self.test_cat_default_pred), None)))
self.assertEqual(len(triples), 1, "method didn't assign category")
def setUp(self):
self.test_util = TestUtils()
self.assoc_curie = 'MONARCH:test_association'
self.eco_id = 'ECO:0000015'
# Headers:
# 01 marker_accession_id,
# 02 marker_symbol,
# 03 phenotyping_center,
# 04 colony_raw,
# 05 sex,
# 06 zygosity,
# 07 allele_accession_id,
# 08 allele_symbol,
# 09 allele_name,
# 10 strain_accession_id,
# 11 strain_name,
# 12 project_name,
# 13 project_fullname,
# 14 pipeline_name,
# 15 pipeline_stable_id,
# 16 procedure_stable_id,
# 17 procedure_name,
# 18 parameter_stable_id,
# 19 parameter_name,
# 20 top_level_mp_term_id,
# 21 top_level_mp_term_name,
# 22 mp_term_id,
# 23 mp_term_name,
# 24 p_value,
# 25 percentage_change,
# 26 effect_size,
# 27 statistical_method,
# 28 resource_name
self.test_set_1 = (
'MGI:1920145', # 01
'Setd5', # 02
'WTSI', # 03
'MEFW', # 04
'male', # 05
'heterozygote', # 06
'MGI:4432631', # 07
'Setd5<tm1a(EUCOMM)Wtsi>', # 08
'targeted mutation 1a, Wellcome Trust Sanger Institute', # 09
'MGI:2159965', # 10
'C57BL/6N', # 11
'MGP', # 12
'Wellcome Trust Sanger Institute Mouse Genetics Project', # 13
'MGP Select Pipeline', # 14
'MGP_001', # 15
'MGP_XRY_001', # 16
'X-ray', # 17
'IMPC_XRY_008_001', # 18
'Number of ribs right', # 19
'MP:0005390', # 20
'skeleton phenotype', # 21
'MP:0000480', # 22
'increased rib number', # 23
'1.637023E-010', # 24
'', # 25
'8.885439E-007', # 26
'Wilcoxon rank sum test with continuity correction', # 27
'IMPC' # 28
)
# Generate test curies, these are otherwise generated
# within _add_evidence() and _add_study_provenance()
# these blank nodes are hardcoded as NOT Skolemized ...
self.study_curie = "_:study"
self.evidence_curie = "_:evidence"
# IRIs for testing sparql output
curie_dict = curie_map.get()
curie_util = CurieUtil(curie_dict)
self.assoc_iri = URIRef(curie_util.get_uri(self.assoc_curie))
return
class GenotypeTestCase(unittest.TestCase):
def setUp(self):
self.graph = RDFGraph()
self.curie_map = curie_map.get()
self.genotype = Genotype(self.graph)
self.cutil = CurieUtil(self.curie_map)
self.test_cat_pred = self.cutil.get_uri(blv.terms['category'])
self.test_cat_genotype_category = self.cutil.get_uri(
blv.terms['Genotype'])
self.test_cat_background_category = self.cutil.get_uri(
blv.terms['PopulationOfIndividualOrganisms'])
def tearDown(self):
self.genotype = None
def test_addGenotype(self):
cutil = CurieUtil(self.curie_map)
gid = 'MGI:5515892'
label = \
'Pmp22<Tr-2J>/Pmp22<+> [C57BL/6J-Pmp22<Tr-2J>/GrsrJ]'
self.genotype.addGenotype(gid, label)
self.assertTrue((URIRef(cutil.get_uri(gid)), RDFS['label'],
Literal(label)) in self.genotype.graph)
def test_addGenomicBackgroundToGenotype_adds_genotype(self):
"""
test that addGenomicBackgroundToGenotype() correctly assigns
subject/object category
"""
genotype_id = "GENO:0000002"
background_id = "GENO:0000002" # no idea what a good example background ID is
self.genotype.addGenomicBackgroundToGenotype(
background_id=background_id, genotype_id=genotype_id)
geno_triples = list(
self.graph.triples((URIRef(self.cutil.get_uri(genotype_id)),
URIRef(self.test_cat_pred),
URIRef(self.test_cat_genotype_category))))
def test_addGenomicBackgroundToGenotype_adds_categories(self):
"""
test that addGenomicBackgroundToGenotype() correctly assigns
subject/object category
"""
genotype_id = "GENO:0000002"
background_id = "GENO:0000002" # no idea what a good example background ID is
self.genotype.addGenomicBackgroundToGenotype(
background_id=background_id, genotype_id=genotype_id)
geno_triples = list(
self.graph.triples((URIRef(self.cutil.get_uri(genotype_id)),
URIRef(self.test_cat_pred),
URIRef(self.test_cat_genotype_category))))
self.assertEqual(
len(geno_triples), 1,
"addTriples() didn't make exactly 1 genotype category triple")
self.assertEqual(
geno_triples[0][2], URIRef(self.test_cat_genotype_category),
"addTriples() didn't assign the right genotype category")
background_triples = list(
self.graph.triples((URIRef(self.cutil.get_uri(background_id)),
URIRef(self.test_cat_pred),
URIRef(self.test_cat_background_category))))
self.assertEqual(
len(background_triples), 1,
"addTriples() didn't make exactly 1 genotype category triple")
self.assertEqual(
background_triples[0][2],
URIRef(self.test_cat_background_category),
"addTriples() didn't assign the right background category")
# does not compile
# def test_addParts(self):
# """
# """
# if part_relationship is None:
# part_relationship = self.globaltt['has_part']
# # Fail loudly if parent or child identifiers are None
# if parent_id is None:
# raise TypeError('Attempt to pass None as parent')
# elif part_id is None:
# raise TypeError('Attempt to pass None as child')
# elif part_relationship is None:
# part_relationship = self.globaltt['has_part']
#
# self.graph.addTriple(parent_id, part_relationship, part_id,
# subject_category=subject_category,
# object_category=object_category)
return
def test_missense_variant_cdna_model(self):
"""
Test missense variant with cdna information
Using test data set 2, and the function add_variant_info_to_graph()
We want to test the following triples:
CGD:VariantID is an instance of OBO:SO_0001059
CGD:VariantID is an instance of OBO:SO_0001583
CGD:VariantID has the label "ABL1 T315I missense mutation"
CGD:VariantID is_sequence_variant_instance_of (OBO:GENO_0000408) NCBIGene:25
CGD:VariantID has location (faldo:location) AminoAcidRegionID
CGD:VariantID has location (faldo:location) CDNARegionID
CGD:VariantID has location (faldo:location) ChromosomalRegionID
CGD:VariantID OBO:GENO_reference_amino_acid "T"
CGD:VariantID OBO:GENO_results_in_amino_acid_change "I"
CGD:VariantID owl:sameAs dbSNP:rs121913459
CGD:VariantID owl:sameAs COSMIC:12560
CGD:VariantID RO:0002205 (transcribed_to) CCDS:35166.1
CCDS:35166.1 is an instance of OBO:SO_0000233
CCDS:35166.1 has the label "CCDS35166.1"
CCDS:35166.1 OBO:RO_0002513 (translates_to) UniProtKB:P00519#P00519-1
CCDS:35166.1 OBO:RO_0002513 (translates_to) NCBIProtein:NP_005148.2
UniProtKB:P00519#P00519-1 owl:sameAs NCBIProtein:NP_005148.2
UniProtKB:P00519#P00519-1 is an instance of OBO:SO_0000104 (polypeptide)
UniProtKB:P00519#P00519-1 has the label "P00519#P00519-1"
NCBIProtein:NP_005148.2 is an instance of OBO:SO_0000104 (polypeptide)
NCBIProtein:NP_005148.2 has the label "NP_005148.2"
"""
from dipper.utils.TestUtils import TestUtils
self.cgd.add_variant_info_to_graph(self.test_set_2)
# Make testutils object and load bindings
test_env = TestUtils(self.cgd.graph)
cu = CurieUtil(self.curie_map)
self.cgd.load_bindings()
(variant_key, variant_label, amino_acid_variant, amino_acid_position,
transcript_id, transcript_priority, protein_variant_type,
functional_impact, stop_gain_loss, transcript_gene,
protein_variant_source, variant_gene, bp_pos, variant_cdna, cosmic_id,
db_snp_id, genome_pos_start, genome_pos_end, ref_base, variant_base,
primary_transcript_exons, primary_transcript_variant_sub_types,
variant_type, chromosome, genome_build, build_version,
build_date) = self.test_set_2[0]
gene_id = self.cgd.gene_map[transcript_gene]
ref_amino_acid = "T"
altered_amino_acid = "I"
db_snp_curie = "dbSNP:121913459"
cosmic_curie = "COSMIC:12560"
uniprot_curie = "UniProtKB:P00519#P00519-1"
uniprot_id = "P00519#P00519-1"
refseq_curie = "NCBIProtein:NP_005148.2"
transcript_curie = "CCDS:35166.1"
ccds_id = "35166.1"
position = 315
chromosome_curie = "hg19chr9"
variant_id = self.cgd.make_cgd_id('variant{0}'.format(variant_key))
aa_region_id = ":_{0}{1}{2}Region".format(position, position,
uniprot_curie)
cdna_region_id = ":_{0}Region".format(transcript_curie)
chr_region_id = ":_{0}{1}Region-{2}-{3}".format(
genome_build, chromosome, genome_pos_start, genome_pos_end)
aa_coord_id = ":_{0}-{1}".format(uniprot_id, position)
cdna_coord_id = ":_{0}-{1}".format(ccds_id, bp_pos)
# chr_coord_id = "CHR:{0}-{1}".format(chromosome_curie, genome_pos_start)
chr_coord_id = ":_{0}-{1}".format(chromosome_curie, genome_pos_start)
variant_uri = URIRef(cu.get_uri(variant_id))
transcript_uri = URIRef(cu.get_uri(transcript_curie))
gene_uri = URIRef(cu.get_uri(gene_id))
db_snp_uri = URIRef(cu.get_uri(db_snp_curie))
cosmic_uri = URIRef(cu.get_uri(cosmic_curie))
uniprot_uri = URIRef(cu.get_uri(uniprot_curie))
refseq_uri = URIRef(cu.get_uri(refseq_curie))
aa_region_uri = URIRef(cu.get_uri(aa_region_id))
cdna_region_uri = URIRef(cu.get_uri(cdna_region_id))
chr_region_uri = URIRef(cu.get_uri(chr_region_id))
aa_coord_uri = URIRef(cu.get_uri(aa_coord_id))
cdna_coord_uri = URIRef(cu.get_uri(cdna_coord_id))
chr_coord_uri = URIRef(cu.get_uri(chr_coord_id))
sparql_query = """
SELECT ?cosmic ?gene ?aaRegion ?cdnaRegion ?chrRegion
?dbSNP ?transcript ?uniprot ?refseq
?aaCoord ?cdnaCoord ?chrCoord
WHERE {{
?cosmic a OBO:SO_0001059;
a OBO:SO_0001583 ;
OBO:GENO_0000408 ?gene ;
faldo:location ?aaRegion ;
faldo:location ?cdnaRegion ;
faldo:location ?chrRegion ;
OBO:GENO_reference_amino_acid "{0}" ;
OBO:GENO_reference_nucleotide "{1}" ;
OBO:GENO_altered_nucleotide "{2}" ;
OBO:GENO_results_in_amino_acid_change "{3}" ;
owl:sameAs ?dbSNP ;
RO:0002205 ?transcript .
?cosmic owl:sameAs ?dbSNP .
?transcript a OBO:SO_0000233 ;
rdfs:label "{4}" ;
OBO:RO_0002513 ?uniprot ;
OBO:RO_0002513 ?refseq .
?uniprot a OBO:SO_0000104 ;
rdfs:label "P00519-1" .
?refseq a OBO:SO_0000104 ;
rdfs:label "NP_005148.2" .
?refseq owl:sameAs ?uniprot .
?aaRegion faldo:begin ?aaCoord .
?cdnaRegion faldo:begin ?cdnaCoord .
?chrRegion faldo:begin ?chrCoord .
?aaCoord faldo:position {5} .
?cdnaCoord faldo:position {6} .
?chrCoord faldo:position {7} .
?dbSNP rdfs:label "{8}" .
}}
""".format(ref_amino_acid, ref_base, variant_base,
altered_amino_acid, transcript_id, position,
bp_pos, genome_pos_start, db_snp_id)
# Expected Results
expected_results = [[
cosmic_uri, gene_uri, aa_region_uri, cdna_region_uri,
chr_region_uri, db_snp_uri, transcript_uri, uniprot_uri,
refseq_uri, aa_coord_uri, cdna_coord_uri, chr_coord_uri
]]
# Query graph
sparql_output = test_env.query_graph(sparql_query)
self.assertEqual(expected_results, sparql_output)
class GraphUtils:
# FIXME - i've duplicated relationships in Assoc and here -
# pick one or the other and refactor
# TODO - refactor using the getNode() method to clear out the
# URIRef(cu.get_uri(<id>)) nonsense
OWLCLASS = OWL['Class']
OWLIND = OWL['NamedIndividual']
OWLRESTRICTION = OWL['Restriction']
OWLPROP = OWL['ObjectProperty']
OBJPROP = OWL['ObjectProperty']
ANNOTPROP = OWL['AnnotationProperty']
DATAPROP = OWL['DatatypeProperty']
SUBCLASS = RDFS['subClassOf']
PERSON = FOAF['Person']
annotation_properties = {
'replaced_by': 'IAO:0100001',
'consider': 'OIO:consider',
'hasExactSynonym': 'OIO:hasExactSynonym',
'hasRelatedSynonym': 'OIO:hasRelatedSynonym',
'definition': 'IAO:0000115',
'has_xref': 'OIO:hasDbXref',
'clique_leader': 'MONARCH:cliqueLeader'
}
object_properties = {
'has_disposition': 'GENO:0000208',
'has_phenotype': 'RO:0002200',
'in_taxon': 'RO:0002162',
'has_quality': 'RO:0000086',
'has_qualifier': 'GENO:0000580',
'towards': 'RO:0002503',
'has_subject': ':hasSubject',
'has_object': ':hasObject',
'has_predicate': ':hasPredicate',
'is_about': 'IAO:0000136',
'has_member': 'RO:0002351',
'member_of': 'RO:0002350',
'involved_in': 'RO:0002331',
'enables': 'RO:0002327',
'derives_from': 'RO:0001000',
'part_of': 'BFO:0000050',
'has_part': 'BFO:0000051',
'mentions': 'IAO:0000142',
'model_of': 'RO:0003301',
'has_gene_product': 'RO:0002205',
'existence_starts_at': 'UBERON:existence_starts_at',
'existence_starts_during': 'RO:0002488',
'existence_ends_at': 'UBERON:existence_ends_at',
'existence_ends_during': 'RO:0002492',
'starts_with': 'RO:0002224',
'starts_during': 'RO:0002091',
'ends_during': 'RO:0002093',
'ends_with': 'RO:0002230',
'occurs_in': 'BFO:0000066',
'has_environment_qualifier': 'GENO:0000580',
'has_begin_stage_qualifier': 'GENO:0000630',
'has_end_stage_qualifier': 'GENO:0000631',
'correlates_with': 'RO:0002610',
'substance_that_treats': 'RO:0002606',
'is_marker_for': 'RO:0002607',
'contributes_to': 'RO:0002326',
'has_origin': 'GENO:0000643',
'has_author': 'ERO:0000232',
'dc:source': 'dc:source',
'dc:evidence': 'dc:evidence',
'has_evidence': 'RO:0002558',
'causally_upstream_of_or_within': 'RO:0002418'
}
datatype_properties = {
'position': 'faldo:position',
'has_measurement': 'IAO:0000004',
}
properties = annotation_properties.copy()
properties.update(object_properties)
properties.update(datatype_properties)
def __init__(self, curie_map, materialize_bnodes=False):
self.curie_map = curie_map
self.cu = CurieUtil(curie_map) # TEC: what is cu really?
self.nobnodes = materialize_bnodes
return
def addClassToGraph(self, g, id, label, type=None, description=None):
"""
Any node added to the graph will get at least 3 triples:
*(node, type, owl:Class) and
*(node, label, literal(label))
*if a type is added,
then the node will be an OWL:subclassOf that the type
*if a description is provided,
it will also get added as a dc:description
:param id:
:param label:
:param type:
:param description:
:return:
"""
n = self.getNode(id)
g.add((n, RDF['type'], self.OWLCLASS))
if label is not None:
g.add((n, RDFS['label'], Literal(label)))
if type is not None:
t = URIRef(self.cu.get_uri(type))
g.add((n, self.SUBCLASS, t))
if description is not None:
g.add((n, DC['description'], Literal(description)))
return g
def addIndividualToGraph(self, g, id, label, type=None, description=None):
n = self.getNode(id)
if label is not None:
g.add((n, RDFS['label'], Literal(label)))
if type is not None:
t = self.getNode(type)
g.add((n, RDF['type'], t))
else:
g.add((n, RDF['type'], self.OWLIND))
if description is not None:
g.add((n, DC['description'], Literal(description)))
return g
def addOWLPropertyClassRestriction(
self, g, class_id, property_id, property_value):
# make a blank node to hold the property restrictions
# scrub the colons, they will make the ttl parsers choke
nid = \
'_'+re.sub(r':', '', property_id)+re.sub(r':', '', property_value)
n = self.getNode(nid)
g.add((n, RDF['type'], self.OWLRESTRICTION))
g.add((n, OWL['onProperty'], self.getNode(property_id)))
g.add((n, OWL['someValuesFrom'], self.getNode(property_value)))
g.add((self.getNode(class_id), self.SUBCLASS, n))
return
def addEquivalentClass(self, g, id1, id2):
n1 = self.getNode(id1)
n2 = self.getNode(id2)
if n1 is not None and n2 is not None:
g.add((n1, OWL['equivalentClass'], n2))
return
def addSameIndividual(self, g, id1, id2):
n1 = self.getNode(id1)
n2 = self.getNode(id2)
if n1 is not None and n2 is not None:
g.add((n1, OWL['sameAs'], n2))
return
def addPerson(self, graph, person_id, person_label):
graph.add((self.getNode(person_id), RDF['type'], self.PERSON))
if person_label is not None:
graph.add(
(self.getNode(person_id), RDFS['label'],
Literal(person_label)))
return
def addDeprecatedClass(self, g, oldid, newids=None):
"""
Will mark the oldid as a deprecated class.
if one newid is supplied, it will mark it as replaced by.
if >1 newid is supplied, it will mark it with consider properties
:param g:
:param oldid: the class id to deprecate
:param newids: the class idlist that is
the replacement(s) of the old class. Not required.
:return:
"""
n1 = URIRef(self.cu.get_uri(oldid))
g.add((n1, RDF['type'], self.OWLCLASS))
self._addReplacementIds(g, oldid, newids)
return
def addDeprecatedIndividual(self, g, oldid, newids=None):
"""
Will mark the oldid as a deprecated individual.
if one newid is supplied, it will mark it as replaced by.
if >1 newid is supplied, it will mark it with consider properties
:param g:
:param oldid: the individual id to deprecate
:param newids: the individual idlist that is the replacement(s) of
the old individual. Not required.
:return:
"""
n1 = URIRef(self.cu.get_uri(oldid))
g.add((n1, RDF['type'], self.OWLIND))
self._addReplacementIds(g, oldid, newids)
return
def _addReplacementIds(self, g, oldid, newids):
consider = URIRef(self.cu.get_uri(self.properties['consider']))
replaced_by = URIRef(self.cu.get_uri(self.properties['replaced_by']))
n1 = URIRef(self.cu.get_uri(oldid))
g.add((n1, OWL['deprecated'], Literal(True, datatype=XSD[bool])))
if newids is not None:
if len(newids) == 1:
n = URIRef(self.cu.get_uri(newids[0]))
g.add((n1, replaced_by, n))
elif len(newids) > 0:
for i in newids:
n = URIRef(self.cu.get_uri(i.strip()))
g.add((n1, consider, n))
return
def addSubclass(self, g, parentid, childid):
p = URIRef(self.cu.get_uri(parentid))
c = URIRef(self.cu.get_uri(childid))
g.add((c, self.SUBCLASS, p))
return
def addType(self, graph, subject_id, type, type_is_literal=False):
# FIXME check this... i don't think a type should ever be a literal
if type_is_literal is True:
graph.add((self.getNode(subject_id), RDF['type'], Literal(type)))
else:
graph.add(
(self.getNode(subject_id), RDF['type'], self.getNode(type)))
return
def addLabel(self, graph, subject_id, label):
graph.add(
(self.getNode(subject_id), RDFS['label'], Literal(label)))
return
def addSynonym(self, g, cid, synonym, synonym_type=None):
"""
Add the synonym as a property of the class cid.
Assume it is an exact synonym, unless otherwise specified
:param g:
:param cid: class id
:param synonym: the literal synonym label
:param synonym_type: the CURIE of the synonym type (not the URI)
:return:
"""
n = self.getNode(cid)
if synonym_type is None:
# default
synonym_type = URIRef(
self.cu.get_uri(self.properties['hasExactSynonym']))
else:
synonym_type = URIRef(self.cu.get_uri(synonym_type))
g.add((n, synonym_type, Literal(synonym)))
return
def addDefinition(self, g, cid, definition):
if definition is not None:
n = self.getNode(cid)
p = URIRef(self.cu.get_uri(self.properties['definition']))
g.add((n, p, Literal(definition)))
return
def addXref(self, g, cid, xrefid, xref_as_literal=False):
self.addTriple(
g, cid, self.properties['has_xref'], xrefid, xref_as_literal)
return
def addDepiction(self, g, subject_id, image_url):
g.add(
(self.getNode(subject_id), FOAF['depiction'], Literal(image_url)))
return
def addComment(self, g, subject_id, comment):
g.add(
(self.getNode(subject_id), DC['comment'],
Literal(comment.strip())))
return
def addDescription(self, g, subject_id, description):
g.add(
(self.getNode(subject_id), DC['description'],
Literal(description.strip())))
return
def addPage(self, g, subject_id, page_url):
g.add(
(self.getNode(subject_id), FOAF['page'], Literal(page_url)))
return
def addTitle(self, g, subject_id, title):
g.add(
(self.getNode(subject_id), DC['title'], Literal(title)))
return
def addMember(self, g, group_id, member_id):
self.addTriple(
g, group_id, self.properties['has_member'], member_id)
def addMemberOf(self, g, member_id, group_id):
self.addTriple(
g, member_id, self.properties['member_of'], group_id)
return
def addInvolvedIn(self, g, member_id, group_id):
self.addTriple(
g, member_id, self.properties['involved_in'], group_id)
def write(self, graph, fileformat=None, file=None):
"""
a basic graph writer (to stdout) for any of the sources.
this will write raw triples in rdfxml, unless specified.
to write turtle, specify format='turtle'
an optional file can be supplied instead of stdout
:return: None
"""
filewriter = None
if fileformat is None:
fileformat = 'rdfxml'
if file is not None:
filewriter = open(file, 'wb')
logger.info("Writing triples in %s to %s", fileformat, file)
graph.serialize(filewriter, format=fileformat)
filewriter.close()
else:
print(graph.serialize(format=fileformat).decode())
return
def write_raw_triples(self, graph, file=None):
"""
a basic graph writer (to stdout) for any of the sources.
this will write raw triples in rdfxml, unless specified.
to write turtle, specify format='turtle'
an optional file can be supplied instead of stdout
:return: None
"""
filewriter = None
if file is not None:
filewriter = open(file, 'w')
logger.info("Writing raw triples to %s", file)
for (s, p, o) in graph:
output = [s, p, o]
print(' '.join(output), file=filewriter)
if filewriter is not None:
filewriter.close()
return
def write_compact_triples(self, graph, file=None):
"""
Will write out the raw triples,
except it will replace the full uri with the curie prefix
:param graph:
:param file:
:return:
"""
# TODO
return
def _getNode(self, id, materialize_bnode):
"""
This is a wrapper for creating a node with a given identifier.
If an id starts with an underscore, it assigns it to a BNode, otherwise
it creates it with a standard URIRef. Alternatively,
if materialize_bnode is True,
it will add any nodes that would have been blank into the BASE space.
This will return None if it can't map the node properly.
:param id:
:return:
"""
base = Namespace(self.curie_map.get(''))
n = None
if id is not None and re.match(r'^_', id):
if materialize_bnode is True:
n = base[id]
else: # replace the leading underscore to make it cleaner
n = BNode(re.sub(r'_', '', id, 1))
elif re.match(r'^\:', id): # do we need to remove embedded ID colons?
n = base[re.sub(r':', '', id, 1)]
else:
u = self.cu.get_uri(id)
if u is not None:
n = URIRef(self.cu.get_uri(id))
else:
logger.error("couldn't make URI for %s", id)
return n
def getNode(self, id, materialize_bnode=False):
return self._getNode(id, materialize_bnode)
def addTriple(
self, graph, subject_id, predicate_id, object,
object_is_literal=False):
if object_is_literal is True:
graph.add(
(self.getNode(subject_id), self.getNode(predicate_id),
Literal(object)))
else:
graph.add(
(self.getNode(subject_id), self.getNode(predicate_id),
self.getNode(object)))
return
def loadObjectProperties(self, graph, op):
"""
Given a graph, it will load the supplied object properties
as owl['ObjectProperty'] types
A convenience.
Status: DEPRECATED. See loadProperties().
:param graph:
:param op: a dictionary of object properties
:return: None
"""
self.loadProperties(graph, op, self.OBJPROP)
return
def loadProperties(self, graph, op, property_type):
"""
Given a graph, it will load the supplied object properties
as the given property_type.
:param graph: a graph
:param op: a dictionary of object properties
:param property_type: one of OWL:(Annotation|Data|Object)Property
:return: None
"""
if property_type not in [self.OBJPROP, self.ANNOTPROP, self.DATAPROP]:
logger.error(
"bad property type assigned: %s, %s", property_type, op)
else:
for k in op:
graph.add(
(self.getNode(op[k]), RDF['type'], property_type))
return
def loadAllProperties(self, graph):
"""
A convenience to load all stored properties
(object, data, and annotation) into the supplied graph.
:param graph:
:return:
"""
self.loadProperties(graph, self.object_properties, self.OBJPROP)
self.loadProperties(graph, self.annotation_properties, self.ANNOTPROP)
self.loadProperties(graph, self.datatype_properties, self.DATAPROP)
return
def addOntologyDeclaration(self, graph, ontology_id):
graph.add((self.getNode(ontology_id), RDF['type'], OWL['Ontology']))
return
def addOWLVersionIRI(self, graph, ontology_id, version_iri):
graph.add(
(self.getNode(ontology_id), OWL['versionIRI'],
self.getNode(version_iri)))
return
def addOWLVersionInfo(self, graph, ontology_id, version_info):
graph.add(
(self.getNode(ontology_id), OWL['versionInfo'],
Literal(version_info)))
return
def makeLeader(self, graph, node_id):
"""
Add an annotation property to the given ```node_id```
to be the clique_leader.
This is a monarchism.
:param graph:
:param node_id:
:return:
"""
self.addTriple(
graph, node_id, self.annotation_properties['clique_leader'],
Literal(True, datatype=XSD[bool]), True)
return
def test_missense_variant_protein_model(self):
"""
Test missense variant with only protein information
Using test data set 1, and the function add_variant_info_to_graph()
We want to test the following triples:
CGD:VariantID is an instance of OBO:SO_0001059
CGD:VariantID is an instance of OBO:SO_0001583
CGD:VariantID has the label "CSF3R Q741X missense mutation"
CGD:VariantID is_sequence_variant_instance_of (OBO:GENO_0000408) NCBIGene:1441
CGD:VariantID has location (faldo:location) CGD:RegionID
CGD:VariantID OBO:GENO_reference_amino_acid "Q"
CGD:VariantID OBO:GENO_results_in_amino_acid_change "X"
CGD:VariantID RO:0002205 CCDS:413.1
CCDS:413.1 is an instance of OBO:GENO_primary
CCDS:413.1 has the label "CCDS413.1"
"""
from dipper.utils.TestUtils import TestUtils
self.cgd.add_variant_info_to_graph(self.test_set_1)
# Make testutils object and load bindings
test_env = TestUtils(self.cgd.graph)
cu = CurieUtil(self.curie_map)
self.cgd.load_bindings()
(variant_key, variant_label, amino_acid_variant, amino_acid_position,
transcript_id, transcript_priority, protein_variant_type,
functional_impact, stop_gain_loss, transcript_gene,
protein_variant_source) = self.test_set_1[0][0:11]
gene_id = self.cgd.gene_map[transcript_gene]
ref_amino_acid = "Q"
altered_amino_acid = "X"
position = 741
uniprot_curie = "UniProtKB:Q99062#Q99062-1"
variant_id = self.cgd.make_cgd_id('variant{0}'.format(variant_key))
transcript = "CCDS:413.1"
region_id = ":_{0}{1}{2}Region".format(position, position,
uniprot_curie)
variant_uri = URIRef(cu.get_uri(variant_id))
transcript_uri = URIRef(cu.get_uri(transcript))
gene_uri = URIRef(cu.get_uri(gene_id))
region_uri = URIRef(cu.get_uri(region_id))
sparql_query = """
SELECT ?variant ?gene ?region ?transcript
WHERE {{
?variant a OBO:SO_0001059;
a OBO:SO_0001583 ;
rdfs:label "{0}" ;
OBO:GENO_0000408 ?gene ;
faldo:location ?region ;
OBO:GENO_reference_amino_acid "{1}" ;
OBO:GENO_results_in_amino_acid_change "{2}" ;
RO:0002205 ?transcript .
?transcript a OBO:SO_0000233 ;
rdfs:label "{3}" .
}}
""".format(variant_label, ref_amino_acid,
altered_amino_acid, transcript_id)
# Expected Results
expected_results = [[
variant_uri, gene_uri, region_uri, transcript_uri
]]
# Query graph
sparql_output = test_env.query_graph(sparql_query)
self.assertEqual(expected_results, sparql_output)
def test_chromosome_position_model(self):
"""
Test modelling of genomic positions
Using test data set 2, and the function add_variant_info_to_graph()
"""
from dipper.utils.TestUtils import TestUtils
self.cgd.add_variant_info_to_graph(self.test_set_2)
# Make testutils object and load bindings
test_env = TestUtils(self.cgd.graph)
cu = CurieUtil(self.curie_map)
self.cgd.load_bindings()
(variant_key, variant_label, amino_acid_variant, amino_acid_position,
transcript_id, transcript_priority, protein_variant_type,
functional_impact, stop_gain_loss, transcript_gene,
protein_variant_source, variant_gene, bp_pos, variant_cdna, cosmic_id,
db_snp_id, genome_pos_start, genome_pos_end, ref_base, variant_base,
primary_transcript_exons, primary_transcript_variant_sub_types,
variant_type, chromosome, genome_build, build_version,
build_date) = self.test_set_2[0]
variant_id = self.cgd.make_cgd_id('variant{0}'.format(variant_key))
chromosome_curie = ":MONARCH_hg19chr9"
region_id = ":_{0}{1}Region-{2}-{3}".format(genome_build, chromosome,
genome_pos_start,
genome_pos_end)
start_id = ":_hg19chr9-{0}".format(genome_pos_start)
end_id = ":_hg19chr9-{0}".format(genome_pos_end)
region_uri = URIRef(cu.get_uri(region_id))
start_uri = URIRef(cu.get_uri(start_id))
end_uri = URIRef(cu.get_uri(end_id))
chromosome_uri = URIRef(cu.get_uri(chromosome_curie))
sparql_query = """
SELECT ?region ?startPosition ?endPosition ?chromosome
WHERE {{
?region a faldo:Region ;
faldo:begin ?startPosition ;
faldo:end ?endPosition .
?startPosition a faldo:Position ;
faldo:position {0} ;
faldo:reference ?chromosome .
?endPosition a faldo:Position ;
faldo:position {1} ;
faldo:reference ?chromosome .
}}
""".format(
genome_pos_start,
genome_pos_end,
)
# Expected Results
expected_results = [[region_uri, start_uri, end_uri, chromosome_uri]]
# Query graph
sparql_output = test_env.query_graph(sparql_query)
self.assertEqual(expected_results, sparql_output)
def test_genome_build_chromosome_model(self):
"""
Test modelling of genome, builds, and chromosomes
Using test data set 2, and the function add_variant_info_to_graph()
"""
from dipper.utils.TestUtils import TestUtils
self.cgd.add_variant_info_to_graph(self.test_set_2)
# Make testutils object and load bindings
test_env = TestUtils(self.cgd.graph)
cu = CurieUtil(self.curie_map)
self.cgd.load_bindings()
genome = ":9606genome"
genome_label = "Human genome"
chromosome = "CHR:9606chr9"
chromosome_label = "chr9 (Human)"
build_curie = "UCSC:hg19"
build_label = "hg19"
chrom_on_build = ":MONARCH_hg19chr9"
chrom_build_label = "chr9 (hg19)"
genome_uri = URIRef(cu.get_uri(genome))
chromosome_uri = URIRef(cu.get_uri(chromosome))
build_uri = URIRef(cu.get_uri(build_curie))
chrom_on_build_uri = URIRef(cu.get_uri(chrom_on_build))
'''
sparql_query = """
SELECT ?genome ?chromosome ?build ?chromOnBuild
WHERE {{
?genome a owl:Class ;
rdfs:label "{0}" ;
OBO:RO_0002162 OBO:NCBITaxon_9606 ;
OBO:RO_0002351 ?chromosome ;
rdfs:subClassOf OBO:SO_0001026 .
?chromosome a owl:Class ;
rdfs:label "{1}" ;
OBO:RO_0002350 ?genome ;
rdfs:subClassOf OBO:SO_0000340 .
?build a OBO:SO_0001505 ;
a ?genome ;
rdfs:label "{2}" ;
OBO:RO_0002351 ?chromOnBuild ;
rdfs:subClassOf ?genome .
?chromOnBuild a ?chromosome ;
rdfs:label "{3}" ;
OBO:RO_0002350 ?build .
}}
""".format(genome_label, chromosome_label,
build_label, chrom_build_label)
'''
sparql_query = """
SELECT ?genome ?chromosome ?build ?chromOnBuild
WHERE {{
?genome a owl:Class ;
rdfs:label "{0}" ;
rdfs:subClassOf OBO:SO_0001026 .
?chromosome a owl:Class ;
rdfs:label "{1}" ;
rdfs:subClassOf OBO:SO_0000340 .
?build a OBO:SO_0001505 ;
a ?genome ;
rdfs:label "{2}" ;
OBO:RO_0002162 OBO:NCBITaxon_9606 ;
OBO:RO_0002351 ?chromOnBuild .
?chromOnBuild a ?chromosome ;
a OBO:SO_0000340 ;
rdfs:label "{3}" ;
OBO:RO_0002350 ?build .
}}
""".format(genome_label, chromosome_label, build_label,
chrom_build_label)
# Expected Results
expected_results = [[
genome_uri, chromosome_uri, build_uri, chrom_on_build_uri
]]
# Query graph
sparql_output = test_env.query_graph(sparql_query)
self.assertEqual(expected_results, sparql_output)
def test_variant_position_region_model(self):
"""
Test modelling of variant positions on a transcript
Using test data set 2, and the function add_variant_info_to_graph()
We want to test the following triples:
CGD:RegionID is an instance of faldo:Region
CGD:RegionID faldo:begin BothStrandPositionID
CGD:RegionID faldo:end BothStrandPositionID
CGD:BothStrandPositionID is an instance of faldo:BothStrandPosition
CGD:BothStrandPositionID is an instance of faldo:Position
CGD:BothStrandPositionID faldo:position 944
CGD:BothStrandPositionID faldo:reference CGD:TranscriptID
"""
from dipper.utils.TestUtils import TestUtils
self.cgd.add_variant_info_to_graph(self.test_set_2)
# Make testutils object and load bindings
test_env = TestUtils(self.cgd.graph)
cu = CurieUtil(self.curie_map)
self.cgd.load_bindings()
(variant_key, variant_label, amino_acid_variant, amino_acid_position,
transcript_id, transcript_priority, protein_variant_type,
functional_impact, stop_gain_loss, transcript_gene,
protein_variant_source, variant_gene, bp_pos, variant_cdna, cosmic_id,
db_snp_id, genome_pos_start, genome_pos_end, ref_base, variant_base,
primary_transcript_exons, primary_transcript_variant_sub_types,
variant_type, chromosome, genome_build, build_version,
build_date) = self.test_set_2[0]
transcript_curie = self.cgd._make_transcript_curie(transcript_id)
ccds_id = "35166.1"
variant_id = self.cgd.make_cgd_id('variant{0}'.format(variant_key))
region_id = ":_{0}Region".format(transcript_curie)
both_strand_id = ":_{0}-{1}".format(ccds_id, bp_pos)
region_uri = URIRef(cu.get_uri(region_id))
both_strand_uri = URIRef(cu.get_uri(both_strand_id))
ccds_uri = URIRef(cu.get_uri(transcript_curie))
sparql_query = """
SELECT ?region ?bsPosition ?transcript
WHERE {{
?region a faldo:Region ;
faldo:begin ?bsPosition ;
faldo:end ?bsPosition .
?bsPosition a faldo:Position ;
faldo:position {0} ;
faldo:reference ?transcript .
}}
""".format(bp_pos)
# Expected Results
expected_results = [[region_uri, both_strand_uri, ccds_uri]]
# Query graph
sparql_output = test_env.query_graph(sparql_query)
self.assertEqual(expected_results, sparql_output)
def test_amino_acid_position_region_model(self):
"""
Test modelling of amino acid positions
Using test data set 1, and the function add_variant_info_to_graph()
We want to test the following triples:
CGD:RegionID is an instance of faldo:Region
CGD:RegionID faldo:begin BothStrandPositionID
CGD:RegionID faldo:end BothStrandPositionID
CGD:BothStrandPositionID is an instance of faldo:BothStrandPosition
CGD:BothStrandPositionID is an instance of faldo:Position
CGD:BothStrandPositionID faldo:position 741
CGD:BothStrandPositionID faldo:reference UniProtID
"""
from dipper.utils.TestUtils import TestUtils
self.cgd.add_variant_info_to_graph(self.test_set_1)
# Make testutils object and load bindings
test_env = TestUtils(self.cgd.graph)
cu = CurieUtil(self.curie_map)
self.cgd.load_bindings()
(variant_key, variant_label, amino_acid_variant, amino_acid_position,
transcript_id, transcript_priority, protein_variant_type,
functional_impact, stop_gain_loss, transcript_gene,
protein_variant_source) = self.test_set_1[0][0:11]
position = 741
variant_id = self.cgd.make_cgd_id('variant{0}'.format(variant_key))
uniprot_curie = "UniProtKB:Q99062#Q99062-1"
uniprot_id = "Q99062#Q99062-1"
region_id = ":_{0}{1}{2}Region".format(position, position,
uniprot_curie)
both_strand_id = ":_{0}-{1}".format(uniprot_id, position)
region_uri = URIRef(cu.get_uri(region_id))
both_strand_uri = URIRef(cu.get_uri(both_strand_id))
uniprot_uri = URIRef(cu.get_uri(uniprot_curie))
sparql_query = """
SELECT ?region ?bsPosition ?protein
WHERE {{
?region a faldo:Region ;
faldo:begin ?bsPosition ;
faldo:end ?bsPosition .
?bsPosition a faldo:Position ;
faldo:position {0} ;
faldo:reference ?protein .
}}
""".format(position)
# Expected Results
expected_results = [[region_uri, both_strand_uri, uniprot_uri]]
# Query graph
sparql_output = test_env.query_graph(sparql_query)
self.assertEqual(expected_results, sparql_output)
def setUp(self):
self.test_util = TestUtils()
self.assoc_curie = 'MONARCH:test_association'
self.eco_id = 'ECO:0000015'
# Headers:
# 01 marker_accession_id,
# 02 marker_symbol,
# 03 phenotyping_center,
# 04 colony_raw,
# 05 sex,
# 06 zygosity,
# 07 allele_accession_id,
# 08 allele_symbol,
# 09 allele_name,
# 10 strain_accession_id,
# 11 strain_name,
# 12 project_name,
# 13 project_fullname,
# 14 pipeline_name,
# 15 pipeline_stable_id,
# 16 procedure_stable_id,
# 17 procedure_name,
# 18 parameter_stable_id,
# 19 parameter_name,
# 20 top_level_mp_term_id,
# 21 top_level_mp_term_name,
# 22 mp_term_id,
# 23 mp_term_name,
# 24 p_value,
# 25 percentage_change,
# 26 effect_size,
# 27 statistical_method,
# 28 resource_name
self.test_set_1 = (
'MGI:1920145', # 01
'Setd5', # 02
'WTSI', # 03
'MEFW', # 04
'male', # 05
'heterozygote', # 06
'MGI:4432631', # 07
'Setd5<tm1a(EUCOMM)Wtsi>', # 08
'targeted mutation 1a, Wellcome Trust Sanger Institute', # 09
'MGI:2159965', # 10
'C57BL/6N', # 11
'MGP', # 12
'Wellcome Trust Sanger Institute Mouse Genetics Project', # 13
'MGP Select Pipeline', # 14
'MGP_001', # 15
'MGP_XRY_001', # 16
'X-ray', # 17
'IMPC_XRY_008_001', # 18
'Number of ribs right', # 19
'MP:0005390', # 20
'skeleton phenotype', # 21
'MP:0000480', # 22
'increased rib number', # 23
'1.637023E-010', # 24
'', # 25
'8.885439E-007', # 26
'Wilcoxon rank sum test with continuity correction', # 27
'IMPC' # 28
)
# Generate test curies, these are otherwise generated
# within _add_evidence() and _add_study_provenance()
# these blank nodes are hardcoded as NOT Skolemized ...
self.study_curie = "_:study"
self.evidence_curie = "_:evidence"
# IRIs for testing sparql output
curie_dict = curie_map.get()
curie_util = CurieUtil(curie_dict)
self.assoc_iri = URIRef(curie_util.get_uri(self.assoc_curie))
return
class RDFGraphTestCase(unittest.TestCase):
def setUp(self):
self.graph = RDFGraph()
this_curie_map = curie_map.get()
self.cutil = CurieUtil(this_curie_map)
# stuff to make test triples
self.test_cat_subj = "http://www.google.com"
self.test_cat_default_pred = self.cutil.get_uri("biolink:category")
self.test_cat_nondefault_pred = self.cutil.get_uri("rdf:type")
self.test_cat_default_category = self.cutil.get_uri(
"biolink:NamedThing")
self.test_cat_nondefault_category = self.cutil.get_uri("biolink:Gene")
self.test_cat_type = self.cutil.get_uri("rdf:type")
self.test_cat_class = self.cutil.get_uri("rdf:class")
def tearDown(self):
self.graph = None
def test_add_triple_makes_triple(self):
"""
test that addTriple() makes at least one triple
"""
self.graph.addTriple(subject_id=self.test_cat_subj,
predicate_id="rdf:type",
obj="rdf:class")
self.assertTrue(
len(self.graph) > 0, "addTriples() didn't make >=1 triple")
def test_add_triple_subject_category_assignment(self):
"""
test that addTriple() correctly assigns subject category
"""
self.graph.addTriple(
subject_id=self.test_cat_subj,
predicate_id="rdf:comment",
obj="website",
subject_category=self.test_cat_nondefault_category)
triples = list(
self.graph.triples((URIRef(self.test_cat_subj),
URIRef(self.test_cat_default_pred), None)))
self.assertEqual(
len(triples), 1,
"addTriples() didn't make exactly one triple subject category")
self.assertEqual(
triples[0][2], URIRef(self.test_cat_nondefault_category),
"addTriples() didn't assign the right triple subject category")
def test_add_triple_object_category_assignment(self):
"""
test that addTriple() correctly assigns object category
"""
self.graph.addTriple(subject_id=self.test_cat_subj,
predicate_id=self.test_cat_type,
obj=self.test_cat_class,
object_category=self.test_cat_nondefault_category)
triples = list(
self.graph.triples((URIRef(self.test_cat_class),
URIRef(self.test_cat_default_pred), None)))
self.assertEqual(
len(triples), 1,
"addTriples() didn't make exactly one triple object category")
self.assertEqual(
triples[0][2], URIRef(self.test_cat_nondefault_category),
"addTriples() didn't assign the right triple object category")
def read_graph_from_turtle_file(self, f):
"""
This will read the specified file into a graph. A simple parsing test.
:param f:
:return:
"""
vg = RDFGraph()
p = os.path.abspath(f)
logger.info("Testing reading turtle file from %s", p)
vg.parse(f, format="turtle")
logger.info('Found %s graph nodes in %s', len(vg), p)
self.assertTrue(len(vg) > 0, "No nodes found in " + p)
return
def read_graph_into_owl(self, f):
"""
test if the ttl can be parsed by owlparser
this expects owltools to be accessible from commandline
:param f: file of ttl
:return:
"""
import subprocess
from subprocess import check_call
status = check_call(["owltools", f], stderr=subprocess.STDOUT)
# returns zero is success!
if status != 0:
logger.error('finished verifying with owltools with status %s',
status)
self.assertTrue(status == 0)
return
def test_make_category_triple_default(self):
"""
test that method adds category triple to graph correctly (default pred and obj)
"""
self.graph._make_category_triple(self.test_cat_subj)
triples = list(self.graph.triples((None, None, None)))
self.assertEqual(len(triples), 1,
"method didn't make exactly one triple")
self.assertEqual(triples[0][0], URIRef(self.test_cat_subj),
"didn't assign correct subject")
self.assertEqual(triples[0][1], URIRef(self.test_cat_default_pred),
"didn't assign correct predicate")
self.assertEqual(triples[0][2], URIRef(self.test_cat_default_category),
"didn't assign correct category")
def test_make_category_triple_non_default_category(self):
"""
test that method adds category triple to graph correctly
"""
self.graph._make_category_triple(self.test_cat_subj,
self.test_cat_nondefault_category)
triples = list(self.graph.triples((None, None, None)))
self.assertEqual(len(triples), 1,
"method didn't make exactly one triple")
self.assertEqual(URIRef(self.test_cat_nondefault_category),
triples[0][2],
"didn't assign correct (non-default) category")
def test_make_category_triple_non_default_pred(self):
"""
test that method adds category triple to graph correctly (non default pred)
"""
self.graph._make_category_triple(
self.test_cat_subj,
self.test_cat_default_category,
predicate=self.test_cat_nondefault_pred)
triples = list(self.graph.triples((None, None, None)))
self.assertEqual(len(triples), 1,
"method didn't make exactly one triple")
self.assertEqual(URIRef(self.test_cat_nondefault_pred), triples[0][1],
"didn't assign correct (non-default) category")
def test_make_category_triple_category_none_should_emit_named_thing(self):
"""
test that method adds category triple to graph correctly (default pred and obj)
"""
self.graph._make_category_triple(self.test_cat_subj, category=None)
triples = list(self.graph.triples((None, None, None)))
self.assertEqual(len(triples), 1,
"method didn't make exactly one triple")
self.assertEqual(URIRef(self.test_cat_default_category), triples[0][2],
"didn't assign correct default category")
def test_is_literal(self):
"""
test that method infers type (either literal or CURIE) correctly
"""
self.assertTrue(self.graph._is_literal("1"))
self.assertTrue(not self.graph._is_literal("foo:bar"))
self.assertTrue(not self.graph._is_literal("http://www.zombo.com/"))
self.assertTrue(not self.graph._is_literal("https://www.zombo.com/"))
self.assertTrue(
not self.graph._is_literal("ftp://ftp.1000genomes.ebi.ac.uk/"))
