class NCBITestCase(SourceTestCase):
def setUp(self):
self.source = NCBIGene('rdf_graph', True)
self.source.settestonly(True)
self._setDirToSource()
return
def tearDown(self):
self.source = None
return
def __init__(self,
graph_type,
are_bnodes_skolemized,
data_release_version=None):
super().__init__(
graph_type=graph_type,
are_bnodes_skolemized=are_bnodes_skolemized,
data_release_version=data_release_version,
name='omia',
ingest_title='Online Mendelian Inheritance in Animals',
ingest_url='https://omia.org',
ingest_logo='source-omia.png',
# ingest_desc=None,
license_url=None,
data_rights='http://sydney.edu.au/disclaimer.shtml',
# file_handle=None
)
self.id_hash = {
'article': {},
'phene': {},
'breed': {},
'taxon': {},
'gene': {}
}
self.label_hash = {}
# used to store the omia to omim phene mappings
self.omia_omim_map = {}
# used to store the unique genes that have phenes
# (for fetching orthology)
self.annotated_genes = set()
self.test_ids = {
'disease': [
'OMIA:001702', 'OMIA:001867', 'OMIA:000478', 'OMIA:000201',
'OMIA:000810', 'OMIA:001400'
],
'gene': [
'492297', '434', '492296', '3430235', '200685834', '394659996',
'200685845', '28713538', '291822383'
],
'taxon': [
'9691', '9685', '9606', '9615', '9913', '93934', '37029',
'9627', '9825'
],
# to be filled in during parsing of breed table
# for lookup by breed-associations
'breed': []
}
# to store a map of omia ids and any molecular info
# to write a report for curation
self.stored_omia_mol_gen = {}
self.graph = self.graph
self.ncbi = NCBIGene(self.graph_type, self.are_bnodes_skized)
class NCBITestCase(SourceTestCase):
def setUp(self):
self.source = NCBIGene('rdf_graph', True)
self.source.settestonly(True)
self._setDirToSource()
return
def tearDown(self):
self.source = None
return
class NCBITestCase(SourceTestCase):
def setUp(self):
self.source = NCBIGene('rdf_graph', True)
self.source.test_ids = self._get_conf()['test_ids']['gene']
self.source.settestonly(True)
self._setDirToSource()
return
def tearDown(self):
self.source = None
return
class NCBITestCase(SourceTestCase):
def setUp(self):
self.source = NCBIGene('rdf_graph', True)
self.source.test_ids = self._get_conf()['test_ids']['gene']
self.source.settestonly(True)
self._setDirToSource()
return
def tearDown(self):
self.source = None
return
def parse(self, limit=None):
# names of tables to iterate - probably don't need all these:
# Article_Breed, Article_Keyword, Article_Gene, Article_Keyword,
# Article_People, Article_Phene, Articles, Breed, Breed_Phene,
# Genes_gb, Group_Categories, Group_MPO, Inherit_Type, Keywords,
# Landmark, Lida_Links, OMIA_Group, OMIA_author, Omim_Xref, People,
# Phene, Phene_Gene, Publishers, Resources, Species_gb, Synonyms
self.scrub()
if limit is not None:
logger.info("Only parsing first %d rows", limit)
logger.info("Parsing files...")
if self.testOnly:
self.testMode = True
if self.testMode:
self.g = self.testgraph
else:
self.g = self.graph
self.geno = Genotype(self.g)
# we do three passes through the file
# first process species (two others reference this one)
self.process_species(limit)
# then, process the breeds, genes, articles, and other static stuff
self.process_classes(limit)
# next process the association data
self.process_associations(limit)
# process the vertebrate orthology for genes
# that are annotated with phenotypes
ncbi = NCBIGene()
ncbi.add_orthologs_by_gene_group(self.g, self.annotated_genes)
self.load_core_bindings()
self.load_bindings()
logger.info("Done parsing.")
self.write_molgen_report()
return
def parse(self, limit=None):
# names of tables to iterate - probably don't need all these:
# Article_Breed, Article_Keyword, Article_Gene, Article_Keyword,
# Article_People, Article_Phene, Articles, Breed, Breed_Phene,
# Genes_gb, Group_Categories, Group_MPO, Inherit_Type, Keywords,
# Landmark, Lida_Links, OMIA_Group, OMIA_author, Omim_Xref, People,
# Phene, Phene_Gene, Publishers, Resources, Species_gb, Synonyms
self.scrub()
if limit is not None:
logger.info("Only parsing first %d rows", limit)
logger.info("Parsing files...")
if self.testOnly:
self.testMode = True
if self.testMode:
self.g = self.testgraph
else:
self.g = self.graph
# we do three passes through the file
# first process species (two others reference this one)
self.process_species(limit)
# then, process the breeds, genes, articles, and other static stuff
self.process_classes(limit)
# next process the association data
self.process_associations(limit)
# process the vertebrate orthology for genes
# that are annotated with phenotypes
ncbi = NCBIGene(self.graph_type, self.are_bnodes_skized)
ncbi.add_orthologs_by_gene_group(self.g, self.annotated_genes)
logger.info("Done parsing.")
self.write_molgen_report()
return
def fetch(self, is_dl_forced=False):
"""
:param is_dl_forced:
:return:
"""
self.get_files(is_dl_forced)
ncbi = NCBIGene(self.graph_type, self.are_bnodes_skized)
# ncbi.fetch()
gene_group = ncbi.files['gene_group']
self.fetch_from_url(gene_group['url'], '/'.join(
(ncbi.rawdir, gene_group['file'])), False)
def _process_gene_row(self, row):
if self.testMode and row['gene_id'] not in self.test_ids['gene']:
return
gene_id = 'NCBIGene:'+str(row['gene_id'])
self.id_hash['gene'][row['gene_id']] = gene_id
gene_label = row['symbol']
self.label_hash[gene_id] = gene_label
tax_id = 'NCBITaxon:'+str(row['gb_species_id'])
gene_type_id = NCBIGene.map_type_of_gene(row['gene_type'])
self.gu.addClassToGraph(self.g, gene_id, gene_label, gene_type_id)
self.geno.addTaxon(tax_id, gene_id)
return
def _process_gene_row(self, row):
model = Model(self.g)
geno = Genotype(self.g)
if self.testMode and row['gene_id'] not in self.test_ids['gene']:
return
gene_id = 'NCBIGene:'+str(row['gene_id'])
self.id_hash['gene'][row['gene_id']] = gene_id
gene_label = row['symbol']
self.label_hash[gene_id] = gene_label
tax_id = 'NCBITaxon:'+str(row['gb_species_id'])
gene_type_id = NCBIGene.map_type_of_gene(row['gene_type'])
model.addClassToGraph(gene_id, gene_label, gene_type_id)
geno.addTaxon(tax_id, gene_id)
return
def fetch(self, is_dl_forced=False):
"""
:param is_dl_forced:
:return:
"""
self.get_files(is_dl_forced)
ncbi = NCBIGene(self.graph_type, self.are_bnodes_skized)
# ncbi.fetch()
gene_group = ncbi.files['gene_group']
self.fetch_from_url(gene_group['url'], '/'.join(
(ncbi.rawdir, gene_group['file'])), False)
# load and tag a list of OMIM IDs with types
# side effect of populating omim replaced
self.omim_type = self.find_omim_type()
return
def setUp(self):
self.source = NCBIGene('rdf_graph', True)
self.source.test_ids = self._get_conf()['test_ids']['gene']
self.source.settestonly(True)
self._setDirToSource()
return
class OMIA(OMIMSource):
"""
This is the parser for the
[Online Mendelian Inheritance in Animals
(OMIA)](http://www.http://omia.angis.org.au),
from which we process inherited disorders, other (single-locus) traits,
and genes in >200 animal species (other than human and mouse and rats).
We generate the omia graph to include the following information:
* genes
* animal taxonomy, and breeds as instances of those taxa
(breeds are akin to "strains" in other taxa)
* animal diseases, along with species-specific subtypes of those diseases
* publications (and their mapping to PMIDs, if available)
* gene-to-phenotype associations (via an anonymous variant-locus
* breed-to-phenotype associations
We make links between OMIA and OMIM in two ways:
1. mappings between OMIA and OMIM are created as OMIA --> hasdbXref OMIM
2. mappings between a breed and OMIA disease are created
to be a 'is model of' the mapped OMIM disease,
IF AND ONLY IF it is a 1:1 mapping.
there are some 1:many mappings,
and these often happen if the OMIM item is a gene.
Because many of these species are not covered in
the PANTHER orthology datafiles, we also pull any orthology
relationships from the gene_group files from NCBI.
"""
files = {
'data': {
'file': 'omia.xml.gz',
# CNAME broken? urllib not following redirects??
# 'url': 'http://omia.angis.org.au/dumps/omia.xml.gz'
'url': 'http://compldb.angis.org.au/dumps/omia.xml.gz',
# see dipper/resources/omia/omia_xml.* for xml xpaths and more
},
'causal_mutations': { # not used yet
'file': 'causal_mutations.tab',
'columns': [ # expected
'gene_symbol',
'ncbi_gene_id',
'OMIA_id',
'ncbi_tax_id',
'OMIA_url',
'phene_name'],
'url': 'http://omia.org/curate/causal_mutations/?format=gene_table',
},
}
def __init__(self,
graph_type,
are_bnodes_skolemized,
data_release_version=None):
super().__init__(
graph_type=graph_type,
are_bnodes_skolemized=are_bnodes_skolemized,
data_release_version=data_release_version,
name='omia',
ingest_title='Online Mendelian Inheritance in Animals',
ingest_url='https://omia.org',
ingest_logo='source-omia.png',
# ingest_desc=None,
license_url=None,
data_rights='http://sydney.edu.au/disclaimer.shtml',
# file_handle=None
)
self.id_hash = {
'article': {},
'phene': {},
'breed': {},
'taxon': {},
'gene': {}
}
self.label_hash = {}
# used to store the omia to omim phene mappings
self.omia_omim_map = {}
# used to store the unique genes that have phenes
# (for fetching orthology)
self.annotated_genes = set()
self.test_ids = {
'disease': [
'OMIA:001702', 'OMIA:001867', 'OMIA:000478', 'OMIA:000201',
'OMIA:000810', 'OMIA:001400'
],
'gene': [
'492297', '434', '492296', '3430235', '200685834', '394659996',
'200685845', '28713538', '291822383'
],
'taxon': [
'9691', '9685', '9606', '9615', '9913', '93934', '37029',
'9627', '9825'
],
# to be filled in during parsing of breed table
# for lookup by breed-associations
'breed': []
}
# to store a map of omia ids and any molecular info
# to write a report for curation
self.stored_omia_mol_gen = {}
self.graph = self.graph
self.ncbi = NCBIGene(self.graph_type, self.are_bnodes_skized)
def fetch(self, is_dl_forced=False):
"""
:param is_dl_forced:
:return:
"""
self.get_files(is_dl_forced)
gene_group = self.ncbi.files['gene_group']
self.fetch_from_url(gene_group['url'], '/'.join(
(self.ncbi.rawdir, gene_group['file'])), False)
def parse(self, limit=None):
# names of tables to iterate - probably don't need all these:
# Article_Breed, Article_Keyword, Article_Gene, Article_Keyword,
# Article_People, Article_Phene, Articles, Breed, Breed_Phene,
# Genes_gb, Group_Categories, Group_MPO, Inherit_Type, Keywords,
# Landmark, Lida_Links, OMIA_Group, OMIA_author, Omim_Xref, People,
# Phene, Phene_Gene, Publishers, Resources, Species_gb, Synonyms
self.scrub()
if limit is not None:
LOG.info("Only parsing first %d rows", limit)
LOG.info("Parsing files...")
if self.test_only:
self.test_mode = True
if self.test_mode:
self.graph = self.testgraph
else:
self.graph = self.graph
# we do three passes through the file
# first process species (two others reference this one)
self.process_species(limit)
# then, process the breeds, genes, articles, and other static stuff
self.process_classes(limit)
# next process the association data
self.process_associations(limit)
# process the vertebrate orthology for genes
# that are annotated with phenotypes
self.ncbi.add_orthologs_by_gene_group(self.graph, self.annotated_genes)
LOG.info("Done parsing.")
self.write_molgen_report()
def scrub(self):
"""
The XML file seems to have mixed-encoding;
we scrub out the control characters
from the file for processing.
i.e.?
omia.xml:1555328.28: PCDATA invalid Char value 2
<field name="journal">Bulletin et Memoires de la Societe Centrale de Medic
:return:
"""
LOG.info("Scrubbing out the nasty characters that break our parser.")
myfile = '/'.join((self.rawdir, self.files['data']['file']))
tmpfile = '/'.join(
(self.rawdir, self.files['data']['file'] + '.tmp.gz'))
tmp = gzip.open(tmpfile, 'wb')
du = DipperUtil()
with gzip.open(myfile, 'rb') as readbin:
filereader = io.TextIOWrapper(readbin, newline="")
for line in filereader:
line = du.remove_control_characters(line) + '\n'
tmp.write(line.encode('utf-8'))
tmp.close()
# TEC I do not like this at all. original data must be preserved as is.
# also may be heavy handed as chars which do not break the parser
# are stripped as well (i.e. tabs and newlines)
# move the temp file
LOG.info("Replacing the original data with the scrubbed file.")
shutil.move(tmpfile, myfile)
# ###################### XML LOOPING FUNCTIONS ##################
def process_species(self, limit):
"""
Loop through the xml file and process the species.
We add elements to the graph, and store the
id-to-label in the label_hash dict.
:param limit:
:return:
"""
myfile = '/'.join((self.rawdir, self.files['data']['file']))
with gzip.open(myfile, 'rb') as readbin:
filereader = io.TextIOWrapper(readbin, newline="")
filereader.readline() # remove the xml declaration line
for event, elem in ET.iterparse(filereader):
# Species ids are == NCBITaxon ids
self.process_xml_table(elem, 'Species_gb',
self._process_species_table_row, limit)
def process_classes(self, limit):
"""
After all species have been processed .
Loop through the xml file and process the articles,
breed, genes, phenes, and phenotype-grouping classes.
We add elements to the graph,
and store the id-to-label in the label_hash dict,
along with the internal key-to-external id in the id_hash dict.
The latter are referenced in the association processing functions.
:param limit:
:return:
"""
myfile = '/'.join((self.rawdir, self.files['data']['file']))
with gzip.open(myfile, 'rb') as readbin:
filereader = io.TextIOWrapper(readbin, newline="")
filereader.readline() # remove the xml declaration line
for event, elem in ET.iterparse(filereader):
self.process_xml_table(elem, 'Articles',
self._process_article_row, limit)
self.process_xml_table(elem, 'Breed', self._process_breed_row,
limit)
self.process_xml_table(elem, 'Genes_gb',
self._process_gene_row, limit)
self.process_xml_table(elem, 'OMIA_Group',
self._process_omia_group_row, limit)
self.process_xml_table(elem, 'Phene', self._process_phene_row,
limit)
self.process_xml_table(elem, 'Omim_Xref',
self._process_omia_omim_map, limit)
# post-process the omia-omim associations to filter out the genes
# (keep only phenotypes/diseases)
self.clean_up_omim_genes()
def process_associations(self, limit):
"""
Loop through the xml file and process the article-breed, article-phene,
breed-phene, phene-gene associations, and the external links to LIDA.
:param limit:
:return:
"""
myfile = '/'.join((self.rawdir, self.files['data']['file']))
with gzip.open(myfile, 'rb') as readbin:
filereader = io.TextIOWrapper(readbin, newline="")
filereader.readline() # remove the xml declaration line
for event, elem in ET.iterparse(
filereader): # iterparse is not deprecated
self.process_xml_table(elem, 'Article_Breed',
self._process_article_breed_row, limit)
self.process_xml_table(elem, 'Article_Phene',
self._process_article_phene_row, limit)
self.process_xml_table(elem, 'Breed_Phene',
self._process_breed_phene_row, limit)
self.process_xml_table(elem, 'Lida_Links',
self._process_lida_links_row, limit)
self.process_xml_table(elem, 'Phene_Gene',
self._process_phene_gene_row, limit)
self.process_xml_table(elem, 'Group_MPO',
self._process_group_mpo_row, limit)
# ############ INDIVIDUAL TABLE-LEVEL PROCESSING FUNCTIONS ################
def _process_species_table_row(self, row): # row is expected as a dict
# gb_species_id, sci_name, com_name, added_by, date_modified
tax_id = 'NCBITaxon:' + str(row['gb_species_id'])
sci_name = row['sci_name']
com_name = row['com_name']
model = Model(self.graph)
if self.test_mode and row['gb_species_id'] not in self.test_ids[
'taxon']:
return
model.addClassToGraph(tax_id)
if com_name != '':
model.addSynonym(tax_id, com_name)
self.label_hash[tax_id] = com_name # for lookup later
else:
self.label_hash[tax_id] = sci_name
def _process_breed_row(self, row):
model = Model(self.graph)
# in test mode, keep all breeds of our test species
if self.test_mode and row['gb_species_id'] not in self.test_ids[
'taxon']:
return
# save the breed keys in the test_ids for later processing
self.test_ids['breed'] += [row['breed_id']]
breed_id = 'OMIA-breed:' + str(row['breed_id'])
self.id_hash['breed'][row['breed_id']] = breed_id
tax_id = 'NCBITaxon:' + str(row['gb_species_id'])
breed_label = row['breed_name']
species_label = self.label_hash.get(tax_id)
if species_label is not None:
breed_label = breed_label + ' (' + species_label + ')'
model.addIndividualToGraph(breed_id, breed_label, tax_id)
self.label_hash[breed_id] = breed_label
def _process_phene_row(self, row):
model = Model(self.graph)
phenotype_id = None
sp_phene_label = row['phene_name']
if sp_phene_label == '':
sp_phene_label = None
if 'omia_id' not in row:
LOG.info("omia_id not present for %s", row['phene_id'])
omia_id = self._make_internal_id('phene', phenotype_id)
else:
omia_id = 'OMIA:' + str(row['omia_id'])
if self.test_mode and not ( # demorgan this
row['gb_species_id'] in self.test_ids['taxon']
and omia_id in self.test_ids['disease']):
return
# add to internal hash store for later lookup
self.id_hash['phene'][row['phene_id']] = omia_id
descr = row['summary']
if descr == '':
descr = None
# omia label
omia_label = self.label_hash.get(omia_id)
# add the species-specific subclass (TODO please review this choice)
gb_species_id = row['gb_species_id']
if gb_species_id != '':
sp_phene_id = '-'.join((omia_id, gb_species_id))
else:
LOG.error(
"No species supplied in species-specific phene table for %s",
omia_id)
return
species_id = 'NCBITaxon:' + str(gb_species_id)
# use this instead
species_label = self.label_hash.get('NCBITaxon:' + gb_species_id)
if sp_phene_label is None and omia_label is not None \
and species_label is not None:
sp_phene_label = ' '.join((omia_label, 'in', species_label))
model.addClassToGraph(sp_phene_id, sp_phene_label, omia_id, descr)
# add to internal hash store for later lookup
self.id_hash['phene'][row['phene_id']] = sp_phene_id
self.label_hash[sp_phene_id] = sp_phene_label
# add each of the following descriptions,
# if they are populated, with a tag at the end.
for item in [
'clin_feat', 'history', 'pathology', 'mol_gen', 'control'
]:
if row[item] is not None and row[item] != '':
model.addDescription(sp_phene_id,
row[item] + ' [' + item + ']')
# if row['symbol'] is not None: # species-specific
# CHECK ME - sometimes spaces or gene labels
# gu.addSynonym(g, sp_phene, row['symbol'])
model.addOWLPropertyClassRestriction(sp_phene_id,
self.globaltt['in taxon'],
species_id)
# add inheritance as an association
inheritance_id = None
if row['inherit'] is not None and row['inherit'] in self.localtt:
inheritance_id = self.resolve(row['inherit'])
elif row['inherit'] is not None and row['inherit'] != '':
LOG.info('Unhandled inheritance type:\t%s', row['inherit'])
if inheritance_id is not None: # observable related to genetic disposition
assoc = D2PAssoc(self.graph,
self.name,
sp_phene_id,
inheritance_id,
rel=self.globaltt['has disposition'])
assoc.add_association_to_graph()
if row['characterised'] == 'Yes':
self.stored_omia_mol_gen[omia_id] = {
'mol_gen': row['mol_gen'],
'map_info': row['map_info'],
'species': row['gb_species_id']
}
def write_molgen_report(self):
LOG.info("Writing G2P report for OMIA")
filename = '/'.join((self.outdir, 'omia_molgen_report.txt'))
with open(filename, 'w', newline='\n') as csvfile:
writer = csv.writer(csvfile, delimiter='\t')
writer.writerow( # write header
[
'omia_id', 'molecular_description', 'mapping_info',
'species'
])
for phene in self.stored_omia_mol_gen:
writer.writerow(
(str(phene), self.stored_omia_mol_gen[phene]['mol_gen'],
self.stored_omia_mol_gen[phene]['map_info'],
self.stored_omia_mol_gen[phene]['species']))
LOG.info("Wrote %d potential G2P descriptions for curation to %s",
len(self.stored_omia_mol_gen), filename)
def _process_article_row(self, row):
model = Model(self.graph)
# don't bother in test mode
if self.test_mode:
return
iarticle_id = self._make_internal_id('article', row['article_id'])
self.id_hash['article'][row['article_id']] = iarticle_id
rtype = None
if row['journal'] != '':
rtype = self.globaltt['journal article']
reference = Reference(self.graph, iarticle_id, rtype)
if row['title'] is not None:
reference.setTitle(row['title'].strip())
if row['year'] is not None:
reference.setYear(row['year'])
reference.addRefToGraph()
if row['pubmed_id'] is not None:
pmid = 'PMID:' + str(row['pubmed_id'])
self.id_hash['article'][row['article_id']] = pmid
model.addSameIndividual(iarticle_id, pmid)
model.addComment(pmid, iarticle_id.replace("_:", ''))
def _process_omia_group_row(self, row):
model = Model(self.graph)
omia_id = 'OMIA:' + row['omia_id']
if self.test_mode and omia_id not in self.test_ids['disease']:
return
group_name = row['group_name']
group_summary = row['group_summary']
# default to general disease seems the only reasonable choice
disease_id = self.globaltt['disease or disorder']
group_category = 'group_category:' + str(row['group_category'])
disease_id = self.resolve(group_category, False)
if disease_id == 'group_category:None':
disease_id = self.globaltt['disease']
elif disease_id == group_category:
LOG.info(
"No disease superclass defined for %s: %s with parent %s",
omia_id, group_name, group_category)
disease_id = self.globaltt['disease']
else:
if disease_id == self.globaltt['embryonic lethality']:
# add this as a phenotype association
# add embryonic onset
assoc = D2PAssoc(self.graph, self.name, omia_id, disease_id)
assoc.add_association_to_graph()
# disease_id = None
model.addClassToGraph(disease_id, None)
if group_summary == '':
group_summary = None
if group_name == '':
group_name = None
model.addClassToGraph(omia_id,
group_name,
description=group_summary,
class_type=disease_id)
self.label_hash[omia_id] = group_name
def _process_gene_row(self, row):
model = Model(self.graph)
geno = Genotype(self.graph)
if self.test_mode and row['gene_id'] not in self.test_ids['gene']:
return
gene_id = 'NCBIGene:' + str(row['gene_id'])
self.id_hash['gene'][row['gene_id']] = gene_id
gene_label = row['symbol']
self.label_hash[gene_id] = gene_label
tax_id = 'NCBITaxon:' + str(row['gb_species_id'])
if row['gene_type'] is not None:
gene_type_id = self.resolve(row['gene_type'])
model.addClassToGraph(gene_id, gene_label, gene_type_id)
geno.addTaxon(tax_id, gene_id)
def _process_article_breed_row(self, row):
# article_id, breed_id, added_by
# don't bother putting these into the test... too many!
# and row['breed_id'] not in self.test_ids['breed']:
if self.test_mode:
return
article_id = self.id_hash['article'].get(row['article_id'])
breed_id = self.id_hash['breed'].get(row['breed_id'])
# there's some missing data (article=6038). in that case skip
if article_id is not None:
self.graph.addTriple(article_id, self.globaltt['is_about'],
breed_id)
else:
LOG.warning("Missing article key %s", str(row['article_id']))
def _process_article_phene_row(self, row):
"""
Linking articles to species-specific phenes.
:param row:
:return:
"""
# article_id, phene_id, added_by
# look up the article in the hashmap
phenotype_id = self.id_hash['phene'].get(row['phene_id'])
article_id = self.id_hash['article'].get(row['article_id'])
omia_id = self._get_omia_id_from_phene_id(phenotype_id)
if self.test_mode or omia_id not in self.test_ids['disease'] \
or phenotype_id is None or article_id is None:
return
# make a triple, where the article is about the phenotype
self.graph.addTriple(article_id, self.globaltt['is_about'],
phenotype_id)
def _process_breed_phene_row(self, row):
model = Model(self.graph)
# Linking disorders/characteristic to breeds
# breed_id, phene_id, added_by
breed_id = self.id_hash['breed'].get(row['breed_id'])
phene_id = self.id_hash['phene'].get(row['phene_id'])
# get the omia id
omia_id = self._get_omia_id_from_phene_id(phene_id)
if breed_id is None or phene_id is None or (
self.test_mode and
(omia_id not in self.test_ids['disease']
or row['breed_id'] not in self.test_ids['breed'])):
return
# FIXME we want a different relationship here
assoc = G2PAssoc(self.graph, self.name, breed_id, phene_id,
self.globaltt['has phenotype'])
assoc.add_association_to_graph()
# add that the breed is a model of the human disease
# use the omia-omim mappings for this
# we assume that we have already scrubbed out the genes
# from the omim list, so we can make the model associations here
omim_ids = self.omia_omim_map.get(omia_id)
eco_id = self.globaltt['biological aspect of descendant evidence']
if omim_ids is not None and omim_ids:
# if len(omim_ids) > 1:
# LOG.info(
# "There's 1:many omia:omim mapping: %s, %s", omia_id, str(omim_ids))
# else:
# oid = list(omim_ids)[0]
# LOG.info("OMIA %s is mapped to OMIM %s", omia_id, oid)
for oid in omim_ids:
assoc = G2PAssoc(self.graph, self.name, breed_id, oid,
self.globaltt['is model of'])
assoc.add_evidence(eco_id)
assoc.add_association_to_graph()
aid = assoc.get_association_id()
breed_label = self.label_hash.get(breed_id)
if breed_label is None: # get taxon label?
breed_label = "this breed"
mch = re.search(r'\((.*)\)', breed_label)
if mch:
sp_label = mch.group(1)
else:
sp_label = ''
phene_label = self.label_hash.get(phene_id)
if phene_label is None:
phene_label = "phenotype"
elif phene_label.endswith(sp_label):
# some of the labels we made already include the species;
# remove it to make a cleaner desc
phene_label = re.sub(r' in ' + sp_label, '', phene_label)
desc = ' '.join(
("High incidence of", phene_label, "in", breed_label,
"suggests it to be a model of disease", oid + "."))
model.addDescription(aid, desc)
else:
LOG.warning("No OMIM Disease associated with %s", omia_id)
def _process_lida_links_row(self, row):
model = Model(self.graph)
# lidaurl, omia_id, added_by
omia_id = 'OMIA:' + row['omia_id']
lidaurl = row['lidaurl']
if self.test_mode and omia_id not in self.test_ids['disease']:
return
model.addXref(omia_id, lidaurl, True)
def _process_phene_gene_row(self, row):
geno = Genotype(self.graph)
model = Model(self.graph)
gene_id = self.id_hash['gene'].get(row['gene_id'])
phene_id = self.id_hash['phene'].get(row['phene_id'])
omia_id = self._get_omia_id_from_phene_id(phene_id)
if self.test_mode and not (omia_id in self.test_ids['disease']
and row['gene_id'] in self.test_ids['gene']
) or gene_id is None or phene_id is None:
return
# occasionally some phenes are missing! (ex: 406)
if phene_id is None:
LOG.warning("Phene id %s is missing", str(row['phene_id']))
return
gene_label = self.label_hash[gene_id]
# some variant of gene_id has phenotype d
var = '_:' + gene_id.split(':')[-1] + 'VL'
geno.addAllele(var, 'some variant of ' + gene_label)
geno.addAlleleOfGene(var, gene_id)
geno.addAffectedLocus(var, gene_id)
model.addBlankNodeAnnotation(var)
assoc = G2PAssoc(self.graph, self.name, var, phene_id)
assoc.add_association_to_graph()
# add the gene id to the set of annotated genes
# for later lookup by orthology
self.annotated_genes.add(gene_id)
def _process_omia_omim_map(self, row):
"""
Links OMIA groups to OMIM equivalents.
:param row:
:return:
"""
# omia_id, omim_id, added_by
model = Model(self.graph)
omia_id = 'OMIA:' + row['omia_id']
omim_id = 'OMIM:' + row['omim_id']
# also store this for use when we say that a given animal is
# a model of a disease
if omia_id not in self.omia_omim_map:
self.omia_omim_map[omia_id] = set()
self.omia_omim_map[omia_id].add(omim_id)
if self.test_mode and omia_id not in self.test_ids['disease']:
return
model.addXref(omia_id, omim_id)
def _process_group_mpo_row(self, row):
"""
Make OMIA to MP associations
:param row:
:return:
"""
omia_id = 'OMIA:' + row['omia_id']
mpo_num = row['MPO_no']
mpo_id = 'MP:' + str(mpo_num).zfill(7)
assoc = D2PAssoc(self.graph, self.name, omia_id, mpo_id)
assoc.add_association_to_graph()
def clean_up_omim_genes(self):
'''
Attempt to limit omim links to diseases and not genes/locus
'''
# get all the omim ids
allomim_curie = set()
for omia in self.omia_omim_map:
allomim_curie.update(self.omia_omim_map[omia])
# strip the curie prefix
allomimids = set([o.split(':')[-1] for o in allomim_curie])
LOG.info("Have %i omim_ids before filtering", len(allomimids))
LOG.info("Exists %i omim_ids replaceable", len(self.omim_replaced))
if self.omim_replaced:
LOG.info("Sample of each (all & replace) look like: %s , %s",
list(allomimids)[0],
list(self.omim_replaced.keys())[0])
# deal with replaced identifiers
replaced = allomimids & self.omim_replaced.keys()
if replaced is not None and replaced:
LOG.warning("These OMIM ID's are past their pull date: %s",
str(replaced))
for oid in replaced:
allomimids.remove(oid)
replacements = self.omim_replaced[oid]
for rep in replacements:
allomimids.update(rep)
# guard against omim identifiers which have been removed
obsolete = [
o for o in self.omim_type
if self.omim_type[o] == self.globaltt['obsolete']
]
removed = allomimids & set(obsolete)
if removed is not None and removed:
LOG.warning("These OMIM ID's are gone: %s", str(removed))
for oid in removed:
allomimids.remove(oid)
# get a list of omim ids which we consider to be for disease / phenotype
omim_phenotypes = set([
omim for omim in self.omim_type if self.omim_type[omim] in (
self.globaltt['phenotype'],
self.globaltt['has_affected_feature'],
self.globaltt['heritable_phenotypic_marker'])
])
LOG.info("Have %i omim_ids globally typed as phenotypes from OMIM",
len(omim_phenotypes))
entries_that_are_phenotypes = allomimids & omim_phenotypes
LOG.info("Filtered out %d/%d entries that are genes or features",
len(allomimids - entries_that_are_phenotypes),
len(allomimids))
# now iterate again and remove those non-phenotype ids
# this could be redone with set operations
removed_count = 0
for omia in self.omia_omim_map:
cleanids = set()
for dirty_curie in self.omia_omim_map[omia]:
dirty_num = dirty_curie.split(':')[-1]
if dirty_num in entries_that_are_phenotypes:
cleanids.add(dirty_curie)
else:
removed_count += 1 # keep track of how many we've removed
self.omia_omim_map[omia] = cleanids
LOG.info("Removed %d omim ids from the omia-to-omim map",
removed_count)
@staticmethod
def _make_internal_id(prefix, key):
''' more blank nodes '''
return '_:' + ''.join(('omia', prefix, 'key', str(key)))
@staticmethod
def _get_omia_id_from_phene_id(phene_id):
omia_id = None
if phene_id is not None:
mch = re.match(r'OMIA:\d+', str(phene_id))
if mch:
omia_id = mch.group(0)
return omia_id
def getTestSuite(self):
import unittest
from tests.test_omia import OMIATestCase
test_suite = unittest.TestLoader().loadTestsFromTestCase(OMIATestCase)
return test_suite
def setUp(self):
self.source = NCBIGene('rdf_graph', True)
self.source.settestonly(True)
self._setDirToSource()
return
def setUp(self):
self.source = NCBIGene('rdf_graph', True)
self.source.settestonly(True)
self._setDirToSource()
return
def setUp(self):
self.source = NCBIGene('rdf_graph', True)
self.source.test_ids = self._get_conf()['test_ids']['gene']
self.source.settestonly(True)
self._setDirToSource()
return