def _get_gene_history(self, limit):
"""
Loops through the gene_history file and adds the old gene ids as deprecated classes, where the new
gene id is the replacement for it. The old gene symbol is added as a synonym to the gene.
:param limit:
:return:
"""
gu = GraphUtils(curie_map.get())
if self.testMode:
g = self.testgraph
else:
g = self.graph
logger.info("Processing Gene records")
line_counter = 0
myfile = '/'.join((self.rawdir, self.files['gene_history']['file']))
logger.info("FILE: %s", myfile)
with gzip.open(myfile, 'rb') as f:
for line in f:
# skip comments
line = line.decode().strip()
if re.match('^#', line):
continue
(tax_num, gene_num, discontinued_num, discontinued_symbol, discontinued_date) = line.split('\t')
##### set filter=None in init if you don't want to have a filter
#if self.filter is not None:
# if ((self.filter == 'taxids' and (int(tax_num) not in self.tax_ids))
# or (self.filter == 'geneids' and (int(gene_num) not in self.gene_ids))):
# continue
##### end filter
if gene_num == '-' or discontinued_num == '-':
continue
if self.testMode and int(gene_num) not in self.gene_ids:
continue
if int(tax_num) not in self.tax_ids:
continue
line_counter += 1
gene_id = ':'.join(('NCBIGene', gene_num))
discontinued_gene_id = ':'.join(('NCBIGene', discontinued_num))
tax_id = ':'.join(('NCBITaxon', tax_num))
# add the two genes
gu.addClassToGraph(g, gene_id, None)
gu.addClassToGraph(g, discontinued_gene_id, discontinued_symbol)
# add the new gene id to replace the old gene id
gu.addDeprecatedClass(g, discontinued_gene_id, [gene_id])
# also add the old symbol as a synonym of the new gene
gu.addSynonym(g, gene_id, discontinued_symbol)
if (not self.testMode) and (limit is not None and line_counter > limit):
break
return
def _process_straininfo(self, limit):
# line_counter = 0 # TODO unused
if self.testMode:
g = self.testgraph
else:
g = self.graph
logger.info("Processing measurements ...")
raw = '/'.join((self.rawdir, self.files['straininfo']['file']))
tax_id = 'NCBITaxon:10090'
gu = GraphUtils(curie_map.get())
with open(raw, 'r') as f:
reader = csv.reader(f, delimiter=',', quotechar='\"')
f.readline() # read the header row; skip
for row in reader:
(strain_name, vendor, stocknum, panel, mpd_strainid,
straintype, n_proj, n_snp_datasets, mpdshortname, url) = row
# C57BL/6J,J,000664,,7,IN,225,17,,http://jaxmice.jax.org/strain/000664.html
# create the strain as an instance of the taxon
if self.testMode and \
'MPD:'+str(mpd_strainid) not in self.test_ids:
continue
strain_id = 'MPD-strain:'+str(mpd_strainid)
gu.addIndividualToGraph(g, strain_id, strain_name, tax_id)
if mpdshortname.strip() != '':
gu.addSynonym(g, strain_id, mpdshortname.strip())
self.idlabel_hash[strain_id] = strain_name
# make it equivalent to the vendor+stock
if stocknum != '':
if vendor == 'J':
jax_id = 'JAX:'+stocknum
gu.addSameIndividual(g, strain_id, jax_id)
elif vendor == 'Rbrc':
# reiken
reiken_id = 'RBRC:'+re.sub(r'RBRC', '', stocknum)
gu.addSameIndividual(g, strain_id, reiken_id)
else:
if url != '':
gu.addXref(g, strain_id, url, True)
if vendor != '':
gu.addXref(
g, strain_id, ':'.join((vendor, stocknum)),
True)
# add the panel information
if panel != '':
desc = panel+' [panel]'
gu.addDescription(g, strain_id, desc)
# TODO make the panels as a resource collection
return
def _process_ortholog_classes(self, limit=None):
"""
This method add the KEGG orthology classes to the graph.
Triples created:
<orthology_class_id> is a class
<orthology_class_id> has label <orthology_symbols>
<orthology_class_id> has description <orthology_description>
:param limit:
:return:
"""
logger.info("Processing ortholog classes")
if self.testMode:
g = self.testgraph
else:
g = self.graph
line_counter = 0
gu = GraphUtils(curie_map.get())
raw = '/'.join((self.rawdir, self.files['ortholog_classes']['file']))
with open(raw, 'r', encoding="iso-8859-1") as csvfile:
filereader = csv.reader(csvfile, delimiter='\t', quotechar='\"')
for row in filereader:
line_counter += 1
(orthology_class_id, orthology_class_name) = row
if self.testMode and orthology_class_id not in self.test_ids['ortholog_classes']:
continue
# FIXME: What's the proper route for this?
# The orthology class is essentially a KEGG gene ID that is species agnostic.
# Add the ID and label as a class. Would it be considered a gene as well?
other_labels = re.split(';', orthology_class_name)
orthology_label = other_labels[0] # the first one is the label we'll use
orthology_class_id = 'KEGG-'+orthology_class_id.strip()
orthology_type = OrthologyAssoc.terms['gene_family']
gu.addClassToGraph(g, orthology_class_id, orthology_label, orthology_type)
if len(other_labels) > 1:
# add the rest as synonyms
# todo skip the first
for s in other_labels:
gu.addSynonym(g, orthology_class_id, s)
# add the last one as the description
gu.addDescription(g, orthology_class_id, other_labels[len(other_labels)-1])
if (not self.testMode) and (limit is not None and line_counter > limit):
break
logger.info("Done with ortholog classes")
return
def process_gene_ids(self, limit):
raw = '/'.join((self.rawdir, self.files['gene_ids']['file']))
if self.testMode:
g = self.testgraph
else:
g = self.graph
gu = GraphUtils(curie_map.get())
logger.info("Processing Gene IDs")
line_counter = 0
geno = Genotype(g)
with gzip.open(raw, 'rb') as csvfile:
filereader = csv.reader(
io.TextIOWrapper(csvfile, newline=""), delimiter=',',
quotechar='\"')
for row in filereader:
line_counter += 1
(taxon_num, gene_num, gene_symbol, gene_synonym, live) = row
# 6239,WBGene00000001,aap-1,Y110A7A.10,Live
if self.testMode and gene_num not in self.test_ids['gene']:
continue
taxon_id = 'NCBITaxon:'+taxon_num
gene_id = 'WormBase:'+gene_num
if gene_symbol == '':
gene_symbol = gene_synonym
if gene_symbol == '':
gene_symbol = None
gu.addClassToGraph(
g, gene_id, gene_symbol, Genotype.genoparts['gene'])
if live == 'Dead':
gu.addDeprecatedClass(g, gene_id)
geno.addTaxon(taxon_id, gene_id)
if gene_synonym != '':
gu.addSynonym(g, gene_id, gene_synonym)
if not self.testMode \
and limit is not None and line_counter > limit:
break
return
def _get_titles(self, limit):
"""
The file processed here is of the format:
#NBK_id GR_shortname OMIM
NBK1103 trimethylaminuria 136132
NBK1103 trimethylaminuria 602079
NBK1104 cdls 122470
Where each of the rows represents a mapping between
a gr id and an omim id. These are a 1:many relationship,
and some of the omim ids are genes (not diseases).
Therefore, we need to create a loose coupling here.
We make the assumption that these NBKs are generally higher-level
grouping classes; therefore the OMIM ids are treated as subclasses.
(This assumption is poor for those omims that are actually genes,
but we have no way of knowing what those are here...
we will just have to deal with that for now.)
:param limit:
:return:
"""
raw = '/'.join((self.rawdir, self.files['titles']['file']))
gu = GraphUtils(curie_map.get())
line_counter = 0
with open(raw, 'r', encoding='latin-1') as csvfile:
filereader = csv.reader(csvfile, delimiter='\t', quotechar='\"')
for row in filereader:
line_counter += 1
if line_counter == 1: # skip header
continue
(shortname, title, nbk_num) = row
gr_id = 'GeneReviews:'+nbk_num
self.book_ids.add(nbk_num) # a global set of the book nums
if limit is None or line_counter < limit:
gu.addClassToGraph(self.graph, gr_id, title)
gu.addSynonym(self.graph, gr_id, shortname)
return
def _get_gene_info(self, limit):
"""
Currently loops through the gene_info file and creates the genes as classes, typed with SO. It will add their
label, any alternate labels as synonyms, alternate ids as equivlaent classes. HPRDs get added as
protein products. The chromosome and chr band get added as blank node regions, and the gene is faldo:located
on the chr band.
:param limit:
:return:
"""
gu = GraphUtils(curie_map.get())
if self.testMode:
g = self.testgraph
else:
g = self.graph
geno = Genotype(g)
# not unzipping the file
logger.info("Processing Gene records")
line_counter = 0
myfile = '/'.join((self.rawdir, self.files['gene_info']['file']))
logger.info("FILE: %s", myfile)
# Add taxa and genome classes for those in our filter
for tax_num in self.tax_ids:
tax_id = ':'.join(('NCBITaxon', str(tax_num)))
geno.addGenome(tax_id, str(tax_num)) # tax label can get added elsewhere
gu.addClassToGraph(g, tax_id, None) # label added elsewhere
with gzip.open(myfile, 'rb') as f:
for line in f:
# skip comments
line = line.decode().strip()
if re.match('^#', line):
continue
(tax_num, gene_num, symbol, locustag,
synonyms, xrefs, chr, map_loc, desc,
gtype, authority_symbol, name,
nomenclature_status, other_designations, modification_date) = line.split('\t')
##### set filter=None in init if you don't want to have a filter
#if self.filter is not None:
# if ((self.filter == 'taxids' and (int(tax_num) not in self.tax_ids))
# or (self.filter == 'geneids' and (int(gene_num) not in self.gene_ids))):
# continue
##### end filter
if self.testMode and int(gene_num) not in self.gene_ids:
continue
if int(tax_num) not in self.tax_ids:
continue
line_counter += 1
gene_id = ':'.join(('NCBIGene', gene_num))
tax_id = ':'.join(('NCBITaxon', tax_num))
gene_type_id = self._map_type_of_gene(gtype)
if symbol == 'NEWENTRY':
label = None
else:
label = symbol
# TODO might have to figure out if things aren't genes, and make them individuals
gu.addClassToGraph(g, gene_id, label, gene_type_id, desc)
# we have to do special things here for genes, because they're classes not individuals
# f = Feature(gene_id,label,gene_type_id,desc)
if name != '-':
gu.addSynonym(g, gene_id, name)
if synonyms.strip() != '-':
for s in synonyms.split('|'):
gu.addSynonym(g, gene_id, s.strip(), Assoc.annotation_properties['hasRelatedSynonym'])
if other_designations.strip() != '-':
for s in other_designations.split('|'):
gu.addSynonym(g, gene_id, s.strip(), Assoc.annotation_properties['hasRelatedSynonym'])
# deal with the xrefs
# MIM:614444|HGNC:HGNC:16851|Ensembl:ENSG00000136828|HPRD:11479|Vega:OTTHUMG00000020696
if xrefs.strip() != '-':
for r in xrefs.strip().split('|'):
fixedr = self._cleanup_id(r)
if fixedr is not None and fixedr.strip() != '':
if re.match('HPRD', fixedr):
# proteins are not == genes.
gu.addTriple(g, gene_id, self.properties['has_gene_product'], fixedr)
else:
# skip some of these for now
if fixedr.split(':')[0] not in ['Vega', 'IMGT/GENE-DB']:
gu.addEquivalentClass(g, gene_id, fixedr)
# edge cases of id | symbol | chr | map_loc:
# 263 AMD1P2 X|Y with Xq28 and Yq12
# 438 ASMT X|Y with Xp22.3 or Yp11.3 # in PAR
# 419 ART3 4 with 4q21.1|4p15.1-p14 # no idea why there's two bands listed - possibly 2 assemblies
# 28227 PPP2R3B X|Y Xp22.33; Yp11.3 # in PAR
# 619538 OMS 10|19|3 10q26.3;19q13.42-q13.43;3p25.3 #this is of "unknown" type == susceptibility
# 101928066 LOC101928066 1|Un - # unlocated scaffold
# 11435 Chrna1 2 2 C3|2 43.76 cM # mouse --> 2C3
# 11548 Adra1b 11 11 B1.1|11 25.81 cM # mouse --> 11B1.1
# 11717 Ampd3 7 7 57.85 cM|7 E2-E3 # mouse
# 14421 B4galnt1 10 10 D3|10 74.5 cM # mouse
# 323212 wu:fb92e12 19|20 - # fish
# 323368 ints10 6|18 - # fish
# 323666 wu:fc06e02 11|23 - # fish
# feel that the chr placement can't be trusted in this table when there is > 1 listed
# with the exception of human X|Y, i will only take those that align to one chr
# FIXME remove the chr mapping below when we pull in the genomic coords
if str(chr) != '-' and str(chr) != '':
if re.search('\|', str(chr)) and str(chr) not in ['X|Y','X; Y']:
# this means that there's uncertainty in the mapping. skip it
# TODO we'll need to figure out how to deal with >1 loc mapping
logger.info('%s is non-uniquely mapped to %s. Skipping for now.', gene_id, str(chr))
continue
# X|Y Xp22.33;Yp11.3
# if (not re.match('(\d+|(MT)|[XY]|(Un)$',str(chr).strip())):
# print('odd chr=',str(chr))
if str(chr) == 'X; Y':
chr = 'X|Y' # rewrite the PAR regions for processing
# do this in a loop to allow PAR regions like X|Y
for c in re.split('\|',str(chr)) :
geno.addChromosomeClass(c, tax_id, None) # assume that the chromosome label will get added elsewhere
mychrom = makeChromID(c, tax_num, 'CHR')
mychrom_syn = makeChromLabel(c, tax_num) # temporarily use the taxnum for the disambiguating label
gu.addSynonym(g, mychrom, mychrom_syn)
band_match = re.match('[0-9A-Z]+[pq](\d+)?(\.\d+)?$', map_loc)
if band_match is not None and len(band_match.groups()) > 0:
# if tax_num != '9606':
# continue
# this matches the regular kind of chrs, so make that kind of band
# not sure why this matches? chrX|Y or 10090chr12|Un"
# TODO we probably need a different regex per organism
# the maploc_id already has the numeric chromosome in it, strip it first
bid = re.sub('^'+c, '', map_loc)
maploc_id = makeChromID(c+bid, tax_num, 'CHR') # the generic location (no coordinates)
# print(map_loc,'-->',bid,'-->',maploc_id)
band = Feature(maploc_id, None, None) # Assume it's type will be added elsewhere
band.addFeatureToGraph(g)
# add the band as the containing feature
gu.addTriple(g, gene_id, Feature.object_properties['is_subsequence_of'], maploc_id)
else:
# TODO handle these cases
# examples are: 15q11-q22, Xp21.2-p11.23, 15q22-qter, 10q11.1-q24,
## 12p13.3-p13.2|12p13-p12, 1p13.3|1p21.3-p13.1, 12cen-q21, 22q13.3|22q13.3
logger.debug('not regular band pattern for %s: %s', gene_id, map_loc)
# add the gene as a subsequence of the chromosome
gu.addTriple(g, gene_id, Feature.object_properties['is_subsequence_of'], mychrom)
geno.addTaxon(tax_id, gene_id)
if not self.testMode and limit is not None and line_counter > limit:
break
gu.loadProperties(g, Feature.object_properties, gu.OBJPROP)
gu.loadProperties(g, Feature.data_properties, gu.DATAPROP)
gu.loadProperties(g, Genotype.object_properties, gu.OBJPROP)
gu.loadAllProperties(g)
return
class Monochrom(Source):
"""
This class will leverage the GENO ontology and modeling patterns to build
an ontology of chromosomes for any species. These classes represent major
structural pieces of Chromosomes which are often universally referenced,
using physical properties/observations that remain constant over different
genome builds (such as banding patterns and arms). The idea is to create a
scaffold upon which we can hang build-specific chromosomal coordinates,
and reason across them.
In general, this will take the cytogenic bands files from UCSC, and create
missing grouping classes, in order to build the partonomy from a very
specific chromosomal band up through the chromosome itself and enable
overlap and containment queries. We use RO:subsequence_of as our
relationship between nested chromosomal parts. For example,
13q21.31 ==> 13q21.31, 13q21.3, 13q21, 13q2, 13q, 13
At the moment, this only computes the bands for
Human, Mouse, Zebrafish, and Rat
but will be expanding in the future as needed.
Because this is a universal framework to represent the chromosomal
structure of any species, we must mint identifiers for each chromosome
and part. We differentiate species by first creating a species-specific
genome, then for each species-specific chromosome we include the NCBI taxon
number together with the chromosome number, like:
```<species number>chr<num><band>```. For 13q21.31, this would be
9606chr13q21.31.
We then create triples for a given band like:
<pre>
CHR:9606chr1p36.33 rdf[type] SO:chromosome_band
CHR:9606chr1p36 subsequence_of :9606chr1p36.3
</pre>
where any band in the file is an instance of a chr_band
(or a more specific type), is a subsequence of it's containing region.
We determine the containing regions of the band by parsing the band-string;
since each alphanumeric is a significant "place", we can split it with the
shorter strings being parents of the longer string
Since this is small, and we have not limited other items in our test set to
a small region, we simply use the whole graph (genome)
for testing purposes, and copy the main graph to the test graph.
Since this Dipper class is building an ONTOLOGY,
rather than instance-level data, we must also include domain and range
constraints, and other owl-isms.
TODO: any species by commandline argument
We are currently mapping these to the **CHR idspace**,
but this is NOT YET APPROVED and is subject to change.
"""
files = {
'9606': {
'file': '9606cytoBand.txt.gz',
'url': MCDL + '/hg19/database/cytoBand.txt.gz',
'build_num': 'hg19',
'genome_label': 'Human'
},
'10090': {
'file': '10090cytoBand.txt.gz',
'url': MCDL + '/mm10/database/cytoBandIdeo.txt.gz',
'build_num': 'mm10',
'genome_label': 'Mouse'
},
# Note that there are no bands, arms or staining components
# for the following genomes at the moment
'7955': {
'file': '7955cytoBand.txt.gz',
'url': MCDL + '/danRer10/database/cytoBandIdeo.txt.gz',
'build_num': 'danRer10',
'genome_label': 'Zebrafish'
},
'10116': {
'file': '10116cytoBand.txt.gz',
'url': MCDL + '/rn6/database/cytoBandIdeo.txt.gz',
'build_num': 'rn6',
'genome_label': 'Rat'
},
'9913': {
'file': 'bosTau7cytoBand.txt.gz',
'url': MCDL + '/bosTau7/database/cytoBandIdeo.txt.gz',
'build_num': 'bosTau7',
'genome_label': 'cow'
},
'9031': {
'file': 'galGal4cytoBand.txt.gz',
'url': MCDL + '/galGal4/database/cytoBandIdeo.txt.gz',
'build_num': 'galGal4',
'genome_label': 'chicken'
},
'9823': {
'file': 'susScr3cytoBand.txt.gz',
'url': MCDL + '/susScr3/database/cytoBandIdeo.txt.gz',
'build_num': 'susScr3',
'genome_label': 'pig'
},
'9940': {
'file': 'oviAri3cytoBand.txt.gz',
'url': MCDL + '/oviAri3/database/cytoBandIdeo.txt.gz',
'build_num': 'oviAri3',
'genome_label': 'sheep'
},
'9796': {
'file': 'equCab2cytoBand.txt.gz',
'url': MCDL + '/equCab2/database/cytoBandIdeo.txt.gz',
'build_num': 'equCab2',
'genome_label': 'horse'
},
}
region_type_map = {
'acen': Feature.types['centromere'],
'gvar': Feature.types['chromosome_band'],
'stalk': Feature.types['chromosome_band'],
'gneg': Feature.types['chromosome_band'],
'gpos100': Feature.types['chromosome_band'],
'gpos25': Feature.types['chromosome_band'],
'gpos33': Feature.types['chromosome_band'],
'gpos50': Feature.types['chromosome_band'],
'gpos66': Feature.types['chromosome_band'],
'gpos75': Feature.types['chromosome_band'],
'chromosome': Feature.types['chromosome'],
'chromosome_arm': Feature.types['chromosome_arm'],
'chromosome_band': Feature.types['chromosome_band'],
'chromosome_part': Feature.types['chromosome_part']
}
def __init__(self, tax_ids=None):
super().__init__('monochrom')
self.tax_ids = tax_ids
self.load_bindings()
self.gu = GraphUtils(curie_map.get())
# Defaults
if self.tax_ids is None:
self.tax_ids = [
9606, 10090, 7955, 10116, 9913, 9031, 9823, 9940, 9796]
self._check_tax_ids()
# TODO add license
self.dataset = Dataset(
'monochrom', 'Monarch Chromosome Ontology',
'http://monarchinitiative.org', None,
'http://creativecommons.org/licenses/by/4.0/')
return
def fetch(self, is_dl_forced=False):
self.get_files(is_dl_forced)
return
def parse(self, limit=None):
if limit is not None:
logger.info("Only parsing first %d rows", limit)
logger.info("Parsing files...")
if self.testOnly:
self.testMode = True
for taxon in self.tax_ids:
self._get_chrbands(limit, str(taxon))
self.load_core_bindings()
self.load_bindings()
# using the full graph as the test here
self.testgraph = self.graph
logger.info("Found %d nodes", len(self.graph))
logger.info("Done parsing files.")
return
def _get_chrbands(self, limit, taxon):
"""
For the given taxon, it will fetch the chr band file.
We will not deal with the coordinate information with this parser.
Here, we only are concerned with building the partonomy.
:param limit:
:return:
"""
line_counter = 0
myfile = '/'.join((self.rawdir, self.files[taxon]['file']))
logger.info("Processing Chr bands from FILE: %s", myfile)
geno = Genotype(self.graph)
# build the organism's genome from the taxon
genome_label = self.files[taxon]['genome_label']
taxon_id = 'NCBITaxon:'+taxon
# add the taxon as a class. adding the class label elsewhere
self.gu.addClassToGraph(self.graph, taxon_id, None)
self.gu.addSynonym(self.graph, taxon_id, genome_label)
self.gu.loadObjectProperties(self.graph, Feature.object_properties)
genome_id = geno.makeGenomeID(taxon_id)
geno.addGenome(taxon_id, genome_label)
self.gu.addOWLPropertyClassRestriction(
self.graph, genome_id, Genotype.object_properties['in_taxon'],
taxon_id)
with gzip.open(myfile, 'rb') as f:
for line in f:
# skip comments
line = line.decode().strip()
if re.match(r'^#', line):
continue
# chr13 4500000 10000000 p12 stalk
(chrom, start, stop, band, rtype) = line.split('\t')
line_counter += 1
# NOTE
# some less-finished genomes have placed and unplaced scaffolds
# * Placed scaffolds:
# Scaffold has an oriented location within a chromosome.
# * Unlocalized scaffolds:
# scaffold 's chromosome is known,
# scaffold's position, orientation or both is not known.
# *Unplaced scaffolds:
# it is not known which chromosome the scaffold belongs to.
# find out if the thing is a full on chromosome, or a scaffold:
# ex: unlocalized scaffold: chr10_KL568008v1_random
# ex: unplaced scaffold: chrUn_AABR07022428v1
placed_scaffold_pattern = r'chr(\d+|X|Y|Z|W|MT|M)'
# TODO unused
# unlocalized_scaffold_pattern = \
# placed_scaffold_pattern + r'_(\w+)_random'
# unplaced_scaffold_pattern = r'chrUn_(\w+)'
m = re.match(placed_scaffold_pattern+r'$', chrom)
if m is not None and len(m.groups()) == 1:
# the chromosome is the first match of the pattern
# ch = m.group(1) # TODO unused
pass
else:
# let's skip over anything that isn't a placed_scaffold
# at the class level
logger.info("Skipping non-placed chromosome %s", chrom)
continue
# the chrom class, taxon as the reference
cclassid = makeChromID(chrom, taxon, 'CHR')
# add the chromosome as a class
geno.addChromosomeClass(chrom, taxon_id, genome_label)
self.gu.addOWLPropertyClassRestriction(
self.graph, cclassid,
self.gu.object_properties['member_of'], genome_id)
# add the band(region) as a class
maplocclass_id = cclassid+band
maplocclass_label = makeChromLabel(chrom+band, genome_label)
if band is not None and band.strip() != '':
region_type_id = self.map_type_of_region(rtype)
self.gu.addClassToGraph(
self.graph, maplocclass_id, maplocclass_label,
region_type_id)
else:
region_type_id = Feature.types['chromosome']
# add the staining intensity of the band
if re.match(r'g(neg|pos|var)', rtype):
if region_type_id in [
Feature.types['chromosome_band'],
Feature.types['chromosome_subband']]:
stain_type = Feature.types.get(rtype)
if stain_type is not None:
self.gu.addOWLPropertyClassRestriction(
self.graph, maplocclass_id,
Feature.properties['has_staining_intensity'],
Feature.types.get(rtype))
else:
# usually happens if it's a chromosome because
# they don't actually have banding info
logger.info("feature type %s != chr band",
region_type_id)
else:
logger.warning('staining type not found: %s', rtype)
# get the parent bands, and make them unique
parents = list(self.make_parent_bands(band, set()))
# alphabetical sort will put them in smallest to biggest
parents.sort(reverse=True)
# print("PARENTS of",maplocclass_id,"=",parents)
# add the parents to the graph, in hierarchical order
# TODO this is somewhat inefficient due to
# re-adding upper-level nodes when iterating over the file
# TODO PYLINT Consider using enumerate
# instead of iterating with range and len
for i in range(len(parents)):
pclassid = cclassid+parents[i] # class chr parts
pclass_label = \
makeChromLabel(chrom+parents[i], genome_label)
rti = getChrPartTypeByNotation(parents[i])
self.gu.addClassToGraph(
self.graph, pclassid, pclass_label, rti)
# for canonical chromosomes,
# then the subbands are subsequences of the full band
# add the subsequence stuff as restrictions
if i < len(parents) - 1:
pid = cclassid+parents[i+1] # the instance
self.gu.addOWLPropertyClassRestriction(
self.graph, pclassid,
Feature.object_properties['is_subsequence_of'],
pid)
self.gu.addOWLPropertyClassRestriction(
self.graph, pid,
Feature.object_properties['has_subsequence'],
pclassid)
else:
# add the last one (p or q usually)
# as attached to the chromosome
self.gu.addOWLPropertyClassRestriction(
self.graph, pclassid,
Feature.object_properties['is_subsequence_of'],
cclassid)
self.gu.addOWLPropertyClassRestriction(
self.graph, cclassid,
Feature.object_properties['has_subsequence'],
pclassid)
# connect the band here to the first one in the parent list
if len(parents) > 0:
self.gu.addOWLPropertyClassRestriction(
self.graph, maplocclass_id,
Feature.object_properties['is_subsequence_of'],
cclassid+parents[0])
self.gu.addOWLPropertyClassRestriction(
self.graph, cclassid+parents[0],
Feature.object_properties['has_subsequence'],
maplocclass_id)
if limit is not None and line_counter > limit:
break
self.gu.loadAllProperties(self.graph)
# TODO figure out the staining intensities for the encompassing bands
return
def make_parent_bands(self, band, child_bands):
"""
this will determine the grouping bands that it belongs to, recursively
13q21.31 ==> 13, 13q, 13q2, 13q21, 13q21.3, 13q21.31
:param band:
:param child_bands:
:return:
"""
m = re.match(r'([pq][A-H\d]+(?:\.\d+)?)', band)
if len(band) > 0:
if m:
p = str(band[0:len(band)-1])
p = re.sub(r'\.$', '', p)
if p is not None:
child_bands.add(p)
self.make_parent_bands(p, child_bands)
else:
child_bands = set()
return child_bands
def map_type_of_region(self, regiontype):
"""
Note that "stalk" refers to the short arm of acrocentric chromosomes
chr13,14,15,21,22 for human.
:param regiontype:
:return:
"""
so_id = Feature.types['chromosome_part']
if regiontype in self.region_type_map.keys():
so_id = self.region_type_map.get(regiontype)
else:
logger.warning(
"Unmapped code %s. Defaulting to chr_part 'SO:0000830'.",
regiontype)
return so_id
def _check_tax_ids(self):
for taxon in self.tax_ids:
if str(taxon) not in self.files:
raise Exception("Taxon " + str(taxon) +
" not supported by source Monochrom")
def getTestSuite(self):
# import unittest
# from tests.test_ucscbands import UCSCBandsTestCase
test_suite = None
# test_suite = \
# unittest.TestLoader().loadTestsFromTestCase(UCSCBandsTestCase)
return test_suite
def _process_diseasegene(self, limit):
"""
:param limit:
:return:
"""
if self.testMode:
g = self.testgraph
else:
g = self.graph
line_counter = 0
geno = Genotype(g)
gu = GraphUtils(curie_map.get())
myfile = '/'.join((self.rawdir, self.files['disease-gene']['file']))
# PYLINT complains iterparse deprecated,
# but as of py 3.4 only the optional & unsupplied parse arg is.
for event, elem in ET.iterparse(myfile):
if elem.tag == 'Disorder':
# get the element name and id, ignoreS element name
# id = elem.get('id') # some internal identifier
disorder_num = elem.find('OrphaNumber').text
disorder_id = 'Orphanet:'+str(disorder_num)
if self.testMode and \
disorder_id not in \
config.get_config()['test_ids']['disease']:
continue
disorder_label = elem.find('Name').text
# make a hash of internal gene id to type for later lookup
gene_iid_to_type = {}
gene_list = elem.find('GeneList')
for gene in gene_list.findall('Gene'):
gene_iid = gene.get('id')
gene_type = gene.find('GeneType').get('id')
gene_iid_to_type[gene_iid] = gene_type
# assuming that these are in the ontology
gu.addClassToGraph(g, disorder_id, disorder_label)
assoc_list = elem.find('DisorderGeneAssociationList')
for a in assoc_list.findall('DisorderGeneAssociation'):
gene_iid = a.find('.//Gene').get('id')
gene_name = a.find('.//Gene/Name').text
gene_symbol = a.find('.//Gene/Symbol').text
gene_num = a.find('./Gene/OrphaNumber').text
gene_id = 'Orphanet:'+str(gene_num)
gene_type_id = \
self._map_gene_type_id(gene_iid_to_type[gene_iid])
gu.addClassToGraph(
g, gene_id, gene_symbol, gene_type_id, gene_name)
syn_list = a.find('./Gene/SynonymList')
if int(syn_list.get('count')) > 0:
for s in syn_list.findall('./Synonym'):
gu.addSynonym(g, gene_id, s.text)
dgtype = a.find('DisorderGeneAssociationType').get('id')
rel_id = self._map_rel_id(dgtype)
dg_label = \
a.find('./DisorderGeneAssociationType/Name').text
if rel_id is None:
logger.warning(
"Cannot map association type (%s) to RO " +
"for association (%s | %s). Skipping.",
dg_label, disorder_label, gene_symbol)
continue
alt_locus_id = '_'+gene_num+'-'+disorder_num+'VL'
alt_label = \
' '.join(('some variant of', gene_symbol.strip(),
'that is a', dg_label.lower(),
disorder_label))
if self.nobnodes:
alt_locus_id = ':'+alt_locus_id
gu.addIndividualToGraph(g, alt_locus_id, alt_label,
geno.genoparts['variant_locus'])
geno.addAlleleOfGene(alt_locus_id, gene_id)
# consider typing the gain/loss-of-function variants like:
# http://sequenceontology.org/browser/current_svn/term/SO:0002054
# http://sequenceontology.org/browser/current_svn/term/SO:0002053
# use "assessed" status to issue an evidence code
# FIXME I think that these codes are sub-optimal
status_code = \
a.find('DisorderGeneAssociationStatus').get('id')
# imported automatically asserted information
# used in automatic assertion
eco_id = 'ECO:0000323'
# Assessed
# TODO are these internal ids stable between releases?
if status_code == '17991':
# imported manually asserted information
# used in automatic assertion
eco_id = 'ECO:0000322'
# Non-traceable author statement ECO_0000034
# imported information in automatic assertion ECO_0000313
assoc = G2PAssoc(self.name, alt_locus_id,
disorder_id, rel_id)
assoc.add_evidence(eco_id)
assoc.add_association_to_graph(g)
rlist = a.find('./Gene/ExternalReferenceList')
eqid = None
for r in rlist.findall('ExternalReference'):
if r.find('Source').text == 'Ensembl':
eqid = 'ENSEMBL:'+r.find('Reference').text
elif r.find('Source').text == 'HGNC':
eqid = 'HGNC:'+r.find('Reference').text
elif r.find('Source').text == 'OMIM':
eqid = 'OMIM:'+r.find('Reference').text
else:
pass # skip the others for now
if eqid is not None:
gu.addClassToGraph(g, eqid, None)
gu.addEquivalentClass(g, gene_id, eqid)
elem.clear() # discard the element
if self.testMode and limit is not None and line_counter > limit:
return
gu.loadProperties(
g, G2PAssoc.annotation_properties, G2PAssoc.ANNOTPROP)
gu.loadProperties(g, G2PAssoc.datatype_properties, G2PAssoc.DATAPROP)
gu.loadProperties(g, G2PAssoc.object_properties, G2PAssoc.OBJECTPROP)
gu.loadAllProperties(g)
return
class OMIA(Source):
"""
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 model for 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',
'url': 'http://omia.angis.org.au/dumps/omia.xml.gz'},
}
def __init__(self):
Source.__init__(self, 'omia')
self.load_bindings()
self.dataset = Dataset(
'omia', 'Online Mendelian Inheritance in Animals',
'http://omia.angis.org.au', None, None,
'http://sydney.edu.au/disclaimer.shtml')
self.id_hash = {
'article': {},
'phene': {},
'breed': {},
'taxon': {},
'gene': {}
}
self.label_hash = {}
self.gu = GraphUtils(curie_map.get())
# 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.g = self.graph
self.geno = Genotype(self.g)
return
def fetch(self, is_dl_forced=False):
"""
:param is_dl_forced:
:return:
"""
self.get_files(is_dl_forced)
ncbi = NCBIGene()
# ncbi.fetch()
gene_group = ncbi.files['gene_group']
self.fetch_from_url(
gene_group['url'], '/'.join((ncbi.rawdir, gene_group['file'])),
False)
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 scrub(self):
"""
The XML file seems to have mixed-encoding;
we scrub out the control characters
from the file for processing.
:return:
"""
logger.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'))
t = gzip.open(tmpfile, 'wb')
du = DipperUtil()
with gzip.open(myfile, 'rb') as f:
filereader = io.TextIOWrapper(f, newline="")
for l in filereader:
l = du.remove_control_characters(l) + '\n'
t.write(l.encode('utf-8'))
t.close()
# move the temp file
logger.info("Replacing the original data with the scrubbed file.")
shutil.move(tmpfile, myfile)
return
# ###################### 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']))
f = gzip.open(myfile, 'rb')
filereader = io.TextIOWrapper(f, newline="")
filereader.readline() # remove the xml declaration line
for event, elem in ET.iterparse(filereader):
# Species ids are == genbank species ids!
self.process_xml_table(
elem, 'Species_gb', self._process_species_table_row, limit)
f.close()
return
def process_classes(self, limit):
"""
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']))
f = gzip.open(myfile, 'rb')
filereader = io.TextIOWrapper(f, newline="")
filereader.readline() # remove the xml declaration line
parser = ET.XMLParser(encoding='utf-8')
for event, elem in ET.iterparse(filereader, parser=parser):
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)
f.close()
# post-process the omia-omim associations to filter out the genes
# (keep only phenotypes/diseases)
self.clean_up_omim_genes()
return
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']))
f = gzip.open(myfile, 'rb')
filereader = io.TextIOWrapper(f, newline="")
filereader.readline() # remove the xml declaration line
for event, elem in ET.iterparse(filereader):
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)
f.close()
return
# ############ INDIVIDUAL TABLE-LEVEL PROCESSING FUNCTIONS ################
def _process_species_table_row(self, row):
# 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']
if self.testMode and \
(int(row['gb_species_id']) not in self.test_ids['taxon']):
return
self.gu.addClassToGraph(self.g, tax_id, sci_name)
if com_name != '':
self.gu.addSynonym(self.g, tax_id, com_name)
self.label_hash[tax_id] = com_name # for lookup later
else:
self.label_hash[tax_id] = sci_name
return
def _process_breed_row(self, row):
# in test mode, keep all breeds of our test species
if self.testMode and \
(int(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'] += [int(row['breed_id'])]
breed_id = self.make_breed_id(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+')'
self.gu.addIndividualToGraph(self.g, breed_id, breed_label, tax_id)
self.label_hash[breed_id] = breed_label
return
def _process_phene_row(self, row):
phenotype_id = None
sp_phene_label = row['phene_name']
if sp_phene_label == '':
sp_phene_label = None
if 'omia_id' not in row:
logger.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.testMode and not\
(int(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:
logger.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))
self.gu.addClassToGraph(
self.g, 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] != '':
self.gu.addDescription(
self.g, 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'])
self.gu.addOWLPropertyClassRestriction(
self.g, sp_phene_id, self.gu.object_properties['in_taxon'],
species_id)
# add inheritance as an association
inheritance_id = self._map_inheritance_term_id(row['inherit'])
if inheritance_id is not None:
assoc = DispositionAssoc(self.name, sp_phene_id, inheritance_id)
assoc.add_association_to_graph(self.g)
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']}
return
def write_molgen_report(self):
import csv
logger.info("Writing G2P report for OMIA")
f = '/'.join((self.outdir, 'omia_molgen_report.txt'))
with open(f, 'w', newline='\n') as csvfile:
writer = csv.writer(csvfile, delimiter='\t')
# write header
h = ['omia_id', 'molecular_description', 'mapping_info', 'species']
writer.writerow(h)
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']))
logger.info(
"Wrote %d potential G2P descriptions for curation to %s",
len(self.stored_omia_mol_gen), f)
return
def _process_article_row(self, row):
# don't bother in test mode
if self.testMode:
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 = Reference.ref_types['journal_article']
r = Reference(iarticle_id, rtype)
if row['title'] is not None:
r.setTitle(row['title'].strip())
if row['year'] is not None:
r.setYear(row['year'])
r.addRefToGraph(self.g)
if row['pubmed_id'] is not None:
pmid = 'PMID:'+str(row['pubmed_id'])
self.id_hash['article'][row['article_id']] = pmid
self.gu.addSameIndividual(self.g, iarticle_id, pmid)
self.gu.addComment(self.g, pmid, iarticle_id)
return
def _process_omia_group_row(self, row):
omia_id = 'OMIA:'+row['omia_id']
if self.testMode and omia_id not in self.test_ids['disease']:
return
group_name = row['group_name']
group_summary = row['group_summary']
disease_id = None
group_category = row.get('group_category')
disease_id = \
self.map_omia_group_category_to_ontology_id(group_category)
if disease_id is not None:
self.gu.addClassToGraph(self.g, disease_id, None)
if disease_id == 'MP:0008762': # embryonic lethal
# add this as a phenotype association
# add embryonic onset
assoc = D2PAssoc(self.name, omia_id, disease_id)
assoc.add_association_to_graph(self.g)
disease_id = None
else:
logger.info(
"No disease superclass defined for %s: %s",
omia_id, group_name)
# default to general disease FIXME this may not be desired
disease_id = 'DOID:4'
if group_summary == '':
group_summary = None
if group_name == '':
group_name = None
self.gu.addClassToGraph(
self.g, omia_id, group_name, disease_id, group_summary)
self.label_hash[omia_id] = group_name
return
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_article_breed_row(self, row):
# article_id, breed_id, added_by
# don't bother putting these into the test... too many!
# and int(row['breed_id']) not in self.test_ids['breed']:
if self.testMode:
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.gu.addTriple(
self.g, article_id, self.gu.object_properties['is_about'],
breed_id)
else:
logger.warning("Missing article key %s", str(row['article_id']))
return
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.testMode and 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.gu.addTriple(
self.g, article_id,
self.gu.object_properties['is_about'], phenotype_id)
return
def _process_breed_phene_row(self, row):
# 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 (self.testMode and not (
omia_id in self.test_ids['disease'] and
int(row['breed_id']) in self.test_ids['breed']) or
breed_id is None or phene_id is None):
return
# FIXME we want a different relationship here
assoc = G2PAssoc(
self.name, breed_id, phene_id,
self.gu.object_properties['has_phenotype'])
assoc.add_association_to_graph(self.g)
# 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 = "ECO:0000214" # biological aspect of descendant evidence
if omim_ids is not None and len(omim_ids) > 0:
if len(omim_ids) > 1:
logger.info(
"There's 1:many omia:omim mapping: %s, %s",
omia_id, str(omim_ids))
for i in omim_ids:
assoc = G2PAssoc(
self.name, breed_id, i,
self.gu.object_properties['model_of'])
assoc.add_evidence(eco_id)
assoc.add_association_to_graph(self.g)
aid = assoc.get_association_id()
breed_label = self.label_hash.get(breed_id)
if breed_label is None:
breed_label = "this breed"
m = re.search(r'\((.*)\)', breed_label)
if m:
sp_label = m.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", i + "."))
self.gu.addDescription(self.g, aid, desc)
return
def _process_lida_links_row(self, row):
# lidaurl, omia_id, added_by
omia_id = 'OMIA:'+row['omia_id']
lidaurl = row['lidaurl']
if self.testMode and omia_id not in self.test_ids['disease']:
return
self.gu.addXref(self.g, omia_id, lidaurl, True)
return
def _process_phene_gene_row(self, row):
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.testMode 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:
logger.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
vl = '_'+re.sub(r'NCBIGene:', '', str(gene_id)) + 'VL'
if self.nobnodes:
vl = ':'+vl
self.geno.addAllele(vl, 'some variant of ' + gene_label)
self.geno.addAlleleOfGene(vl, gene_id)
assoc = G2PAssoc(self.name, vl, phene_id)
assoc.add_association_to_graph(self.g)
# add the gene id to the set of annotated genes
# for later lookup by orthology
self.annotated_genes.add(gene_id)
return
def _process_omia_omim_map(self, row):
"""
Links OMIA groups to OMIM equivalents.
:param row:
:return:
"""
# omia_id, omim_id, added_by
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.testMode and omia_id not in self.test_ids['disease']:
return
self.gu.addXref(self.g, omia_id, omim_id)
return
def map_omia_group_category_to_ontology_id(self, category_num):
"""
Using the category number in the OMIA_groups table,
map them to a disease id.
This may be superceeded by other MONDO methods.
Platelet disorders will be more specific once
https://github.com/obophenotype/human-disease-ontology/issues/46
is fulfilled.
:param category_num:
:return:
"""
category_map = {
1: 'DOID:0014667', # Inborn error of metabolism
2: 'MESH:D004392', # Dwarfism
3: 'DOID:1682', # congenital heart disease
4: 'DOID:74', # blood system disease
5: 'DOID:3211', # lysosomal storage disease
6: 'DOID:16', # integumentary system disease
# --> retinal degeneration ==> OMIA:000830
7: 'DOID:8466', # progressive retinal atrophy
8: 'DOID:0050572', # Cone–rod dystrophy
9: 'MESH:C536122', # stationary night blindness
10: 'Orphanet:98553', # developmental retinal disorder
11: 'DOID:5679', # retinal disorder
12: 'Orphanet:90771', # Disorder of Sex Development
# - what to do about this one?
13: 'MP:0008762', # embryonic lethal
# - not sure what to do with this
14: None, # blood group
# FIXME make me more specific
15: 'DOID:2218', # intrinsic platelet disorder
# FIXME make me more specific
16: 'DOID:2218', # extrinsic platelet disorder
17: None # transgenic ???
}
disease_id = None
if category_num is not None and int(category_num) in category_map:
disease_id = category_map.get(int(category_num))
logger.info(
"Found %s for category %s", str(disease_id), str(category_num))
else:
logger.info(
"There's a group category I don't know anything about: %s",
str(category_num))
return disease_id
def _process_group_mpo_row(self, row):
"""
Make OMIA to MP associations
:param row:
:return:
"""
omia_id = 'OMIA:'+row['omia_id']
mpo_num = int(row['MPO_no'])
mpo_id = 'MP:'+str(mpo_num).zfill(7)
assoc = D2PAssoc(self.name, omia_id, mpo_id)
assoc.add_association_to_graph(self.g)
return
def clean_up_omim_genes(self):
omim = OMIM()
# get all the omim ids
allomimids = set()
for omia in self.omia_omim_map:
allomimids.update(self.omia_omim_map[omia])
entries_that_are_phenotypes = omim.process_entries(
list(allomimids), filter_keep_phenotype_entry_ids, None, None)
logger.info(
"Filtered out %d/%d entries that are genes or features",
len(allomimids)-len(entries_that_are_phenotypes), len(allomimids))
# now iterate again and remove those non-phenotype ids
removed_count = 0
for omia in self.omia_omim_map:
ids = self.omia_omim_map[omia]
cleanids = set()
for i in ids:
if i in entries_that_are_phenotypes:
cleanids.add(i)
else:
removed_count += 1 # keep track of how many we've removed
self.omia_omim_map[omia] = cleanids
logger.info(
"Removed %d omim ids from the omia-to-omim map", removed_count)
return
def _make_internal_id(self, prefix, key):
iid = '_'+''.join(('omia', prefix, 'key', str(key)))
if self.nobnodes:
iid = ':'+iid
return iid
def make_breed_id(self, key):
breed_id = 'OMIA-breed:'+str(key)
return breed_id
@staticmethod
def _get_omia_id_from_phene_id(phene_id):
omia_id = None
if phene_id is not None:
m = re.match(r'OMIA:\d+', str(phene_id))
if m:
omia_id = m.group(0)
return omia_id
@staticmethod
def _map_inheritance_term_id(inheritance_symbol):
inherit_map = {
'A': None, # Autosomal
'ACD': 'GENO:0000143', # Autosomal co-dominant
'ADV': None, # autosomal dominant with variable expressivity
'AID': 'GENO:0000259', # autosomal incompletely dominant
'ASD': 'GENO:0000145', # autosomal semi-dominant
# autosomal recessive, semi-lethal
# using generic autosomal recessive
'ASL': 'GENO:0000150',
'D': 'GENO:0000147', # autosomal dominant
'M': None, # multifactorial
'MAT': None, # Maternal
# probably autosomal recessive
# using generic autosomal recessive
'PR': 'GENO:0000150',
'R': 'GENO:0000150', # Autosomal Recessive
# Recessive Embryonic Lethal
# using plain recessive
'REL': 'GENO:0000148',
# Autosomal Recessive Lethal
# using plain autosomal recessive
'RL': 'GENO:0000150',
'S': 'GENO:0000146', # Sex-linked <--using allosomal dominant
'SLi': None, # Sex-limited
'UD': 'GENO:0000144', # Dominant
'X': None, # x-linked # HP:0001417 ?
# X-linked Dominant <-- temp using allosomal dominant FIXME
'XLD': 'GENO:0000146',
# X-linked Recessive <-- temp using allosomal recessive FIXME
'XLR': 'GENO:0000149',
'Y': None, # Y-linked
'Z': None, # Z-linked
# Z-linked recessive <-- temp using allosomal recessive FIXME
'ZR': 'GENO:0000149',
'999': None, # Z-linked incompletely dominant
}
inheritance_id = inherit_map.get(inheritance_symbol)
if inheritance_id is None and inheritance_symbol is not None:
logger.warning(
"No inheritance id is mapped for %s", inheritance_symbol)
return inheritance_id
def getTestSuite(self):
import unittest
from tests.test_omia import OMIATestCase
test_suite = unittest.TestLoader().loadTestsFromTestCase(OMIATestCase)
return test_suite
def _get_equivids(self, limit):
"""
The file processed here is of the format:
#NBK_id GR_shortname OMIM
NBK1103 trimethylaminuria 136132
NBK1103 trimethylaminuria 602079
NBK1104 cdls 122470
Where each of the rows represents a mapping between
a gr id and an omim id. These are a 1:many relationship,
and some of the omim ids are genes(not diseases).
Therefore, we need to create a loose coupling here.
We make the assumption that these NBKs are generally higher-level
grouping classes; therefore the OMIM ids are treated as subclasses.
(This assumption is poor for those omims that are actually genes,
but we have no way of knowing what those are here...
we will just have to deal with that for now.)
:param limit:
:return:
"""
raw = '/'.join((self.rawdir, self.files['idmap']['file']))
gu = GraphUtils(curie_map.get())
line_counter = 0
# we look some stuff up in OMIM, so initialize here
omim = OMIM()
id_map = {}
allomimids = set()
with open(raw, 'r', encoding="utf8") as csvfile:
filereader = csv.reader(csvfile, delimiter='\t', quotechar='\"')
for row in filereader:
line_counter += 1
if line_counter == 1: # skip header
continue
(nbk_num, shortname, omim_num) = row
gr_id = 'GeneReviews:'+nbk_num
omim_id = 'OMIM:'+omim_num
if not (
(self.testMode and
len(self.test_ids) > 0 and
omim_id in self.test_ids) or not
self.testMode):
continue
# sometimes there's bad omim nums
if len(omim_num) > 6:
logger.warning(
"OMIM number incorrectly formatted " +
"in row %d; skipping:\n%s",
line_counter, '\t'.join(row))
continue
# build up a hashmap of the mappings; then process later
if nbk_num not in id_map:
id_map[nbk_num] = set()
id_map[nbk_num].add(omim_num)
# add the class along with the shortname
gu.addClassToGraph(self.graph, gr_id, None)
gu.addSynonym(self.graph, gr_id, shortname)
allomimids.add(omim_num)
if not self.testMode and \
limit is not None and line_counter > limit:
break
# end looping through file
# get the omim ids that are not genes
entries_that_are_phenotypes = \
omim.process_entries(
list(allomimids), filter_keep_phenotype_entry_ids,
None, None, limit)
logger.info("Filtered out %d/%d entries that are genes or features",
len(allomimids)-len(entries_that_are_phenotypes),
len(allomimids))
for nbk_num in self.book_ids:
gr_id = 'GeneReviews:'+nbk_num
if nbk_num in id_map:
omim_ids = id_map.get(nbk_num)
for omim_num in omim_ids:
omim_id = 'OMIM:'+omim_num
# add the gene reviews as a superclass to the omim id,
# but only if the omim id is not a gene
if omim_id in entries_that_are_phenotypes:
gu.addClassToGraph(self.graph, omim_id, None)
gu.addSubclass(self.graph, gr_id, omim_id)
# add this as a generic subclass of DOID:4
gu.addSubclass(self.graph, 'DOID:4', gr_id)
return
class UCSCBands(Source):
"""
This will take the UCSC defintions of cytogenic bands and create the nested
structures to enable overlap and containment queries. We use
```Monochrom.py``` to create the OWL-classes of the chromosomal parts.
Here, we simply worry about the instance-level values for particular genome
builds.
Given a chr band definition, the nested containment structures look like:
13q21.31 ==> 13q21.31, 13q21.3, 13q21, 13q2, 13q, 13
We determine the containing regions of the band by parsing the band-string;
since each alphanumeric is a significant "place", we can split it
with the shorter strings being parents of the longer string
Here we create build-specific chroms, which are instances of the classes
produced from ```Monochrom.py```.
You can instantiate any number of builds for a genome.
We leverage the Faldo model here for region definitions,
and map each of the chromosomal parts to SO.
We differentiate the build by adding the build id to the identifier prior
to the chromosome number.
These then are instances of the species-specific chromosomal class.
The build-specific chromosomes are created like:
<pre>
<build number>chr<num><band>
with triples for a given band like:
:hg19chr1p36.33 rdf[type] SO:chromosome_band, faldo:Region, CHR:9606chr1p36.33
:hg19chr1p36.33 subsequence_of :hg19chr1p36.3
:hg19chr1p36.33 faldo:location
[ a faldo:BothStrandPosition
faldo:begin 0,
faldo:end 2300000,
faldo:reference 'hg19']
</pre>
where any band in the file is an instance of a chr_band
(or a more specific type), is a subsequence of it's containing region, \
and is located in the specified coordinates.
We do not have a separate graph for testing.
TODO: any species by commandline argument
"""
files = {
# TODO accommodate multiple builds per species
'9606': {
'file': 'hg19cytoBand.txt.gz',
'url': 'http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/cytoBand.txt.gz',
'build_num': 'hg19',
'genome_label': 'Human'
},
'10090': {
'file': 'mm10cytoBand.txt.gz',
'url': 'http://hgdownload.cse.ucsc.edu/goldenPath/mm10/database/cytoBandIdeo.txt.gz',
'build_num': 'mm10',
'genome_label': 'Mouse'
},
# Note that there are no bands,
# arms or staining components for the species below at the moment
'7955': {
'file': 'danRer10cytoBand.txt.gz',
'url': 'http://hgdownload.cse.ucsc.edu/goldenPath/danRer10/database/cytoBandIdeo.txt.gz',
'build_num': 'danRer10',
'genome_label': 'Zebrafish'
},
'9913': {
'file': 'bosTau7cytoBand.txt.gz',
'url': 'http://hgdownload.cse.ucsc.edu/goldenPath/bosTau7/database/cytoBandIdeo.txt.gz',
'build_num': 'bosTau7',
'genome_label': 'cow'
},
'9031': {
'file': 'galGal4cytoBand.txt.gz',
'url': 'http://hgdownload.cse.ucsc.edu/goldenPath/galGal4/database/cytoBandIdeo.txt.gz',
'build_num': 'galGal4',
'genome_label': 'chicken'
},
'9823': {
'file': 'susScr3cytoBand.txt.gz',
'url': 'http://hgdownload.cse.ucsc.edu/goldenPath/susScr3/database/cytoBandIdeo.txt.gz',
'build_num': 'susScr3',
'genome_label': 'pig'
},
'9940': {
'file': 'oviAri3cytoBand.txt.gz',
'url': 'http://hgdownload.cse.ucsc.edu/goldenPath/oviAri3/database/cytoBandIdeo.txt.gz',
'build_num': 'oviAri3',
'genome_label': 'sheep'
},
'9796': {
'file': 'equCab2cytoBand.txt.gz',
'url': 'http://hgdownload.cse.ucsc.edu/goldenPath/equCab2/database/cytoBandIdeo.txt.gz',
'build_num': 'equCab2',
'genome_label': 'horse'
},
# TODO rainbow trout, 8022, when available
}
def __init__(self, tax_ids=None):
super().__init__('ucscbands')
self.tax_ids = tax_ids
self.load_bindings()
self.gu = GraphUtils(curie_map.get())
# Defaults
if self.tax_ids is None:
# self.tax_ids = [9606, 10090, 7955]
self.tax_ids = [9606, 10090, 7955, 9913, 9031, 9823, 9940, 9796]
# TODO add other species as defaults
self._check_tax_ids()
self.dataset = Dataset('ucscbands', 'UCSC Cytogenic Bands',
'http://hgdownload.cse.ucsc.edu', None,
'http://genome.ucsc.edu/license/')
# data-source specific warnings
# (will be removed when issues are cleared)
return
def fetch(self, is_dl_forced=False):
self.get_files(is_dl_forced)
return
def parse(self, limit=None):
if limit is not None:
logger.info("Only parsing first %d rows", limit)
logger.info("Parsing files...")
if self.testOnly:
self.testMode = True
for taxon in self.tax_ids:
self._get_chrbands(limit, str(taxon))
self._create_genome_builds()
self.load_core_bindings()
self.load_bindings()
# using the full graph as the test here
self.testgraph = self.graph
logger.info("Found %d nodes", len(self.graph))
logger.info("Done parsing files.")
return
def _get_chrbands(self, limit, taxon):
"""
:param limit:
:return:
"""
# TODO PYLINT figure out what limit was for and why it is unused
line_counter = 0
myfile = '/'.join((self.rawdir, self.files[taxon]['file']))
logger.info("Processing Chr bands from FILE: %s", myfile)
geno = Genotype(self.graph)
monochrom = Monochrom()
# used to hold band definitions for a chr
# in order to compute extent of encompasing bands
mybands = {}
# build the organism's genome from the taxon
genome_label = self.files[taxon]['genome_label']
taxon_id = 'NCBITaxon:'+taxon
# add the taxon as a class. adding the class label elsewhere
self.gu.addClassToGraph(self.graph, taxon_id, None)
self.gu.addSynonym(self.graph, taxon_id, genome_label)
self.gu.loadObjectProperties(self.graph, Feature.object_properties)
self.gu.loadProperties(self.graph, Feature.data_properties,
self.gu.DATAPROP)
self.gu.loadAllProperties(self.graph)
geno.addGenome(taxon_id, genome_label)
# add the build and the taxon it's in
build_num = self.files[taxon]['build_num']
build_id = 'UCSC:'+build_num
geno.addReferenceGenome(build_id, build_num, taxon_id)
# process the bands
with gzip.open(myfile, 'rb') as f:
for line in f:
# skip comments
line = line.decode().strip()
if re.match('^#', line):
continue
# chr13 4500000 10000000 p12 stalk
(scaffold, start, stop, band_num, rtype) = line.split('\t')
line_counter += 1
# NOTE some less-finished genomes have
# placed and unplaced scaffolds
# * Placed scaffolds:
# the scaffolds have been placed within a chromosome.
# * Unlocalized scaffolds:
# although the chromosome within which the scaffold occurs
# is known, the scaffold's position or orientation
# is not known.
# * Unplaced scaffolds:
# it is not known which chromosome the scaffold belongs to
#
# find out if the thing is a full on chromosome, or a scaffold:
# ex: unlocalized scaffold: chr10_KL568008v1_random
# ex: unplaced scaffold: chrUn_AABR07022428v1
placed_scaffold_pattern = r'(chr(?:\d+|X|Y|Z|W|M))'
unlocalized_scaffold_pattern = placed_scaffold_pattern+r'_(\w+)_random'
unplaced_scaffold_pattern = r'chr(Un(?:_\w+)?)'
m = re.match(placed_scaffold_pattern+r'$', scaffold)
if m is not None and len(m.groups()) == 1:
# the chromosome is the first match of the pattern
chrom_num = m.group(1)
else:
# skip over anything that isn't a placed_scaffold
# at the class level
logger.info("Found non-placed chromosome %s", scaffold)
chrom_num = None
m_chr_unloc = re.match(unlocalized_scaffold_pattern, scaffold)
m_chr_unplaced = re.match(unplaced_scaffold_pattern, scaffold)
scaffold_num = None
if m:
pass
elif m_chr_unloc is not None and len(m_chr_unloc.groups()) == 2:
chrom_num = m_chr_unloc.group(1)
scaffold_num = chrom_num+'_'+m_chr_unloc.group(2)
elif m_chr_unplaced is not None and len(m_chr_unplaced.groups()) == 1:
scaffold_num = m_chr_unplaced.group(1)
else:
logger.error("There's a chr pattern that we aren't matching: %s",
scaffold)
if chrom_num is not None:
# the chrom class (generic) id
chrom_class_id = makeChromID(chrom_num, taxon, 'CHR')
# first, add the chromosome class (in the taxon)
geno.addChromosomeClass(chrom_num,
taxon_id, self.files[taxon]['genome_label'])
# then, add the chromosome instance (from the given build)
geno.addChromosomeInstance(chrom_num, build_id, build_num,
chrom_class_id)
# add the chr to the hashmap of coordinates for this build
# the chromosome coordinate space is itself
if chrom_num not in mybands.keys():
mybands[chrom_num] = {'min': 0,
'max': int(stop),
'chr': chrom_num,
'ref': build_id,
'parent': None,
'stain': None,
'type': Feature.types['chromosome']}
if scaffold_num is not None:
# this will put the coordinates of the scaffold
# in the scaffold-space and make sure that the scaffold
# is part of the correct parent.
# if chrom_num is None,
# then it will attach it to the genome,
# just like a reg chrom
mybands[scaffold_num] = {'min': start,
'max': stop,
'chr': scaffold_num,
'ref': build_id,
'parent': chrom_num,
'stain': None,
'type': Feature.types['assembly_component'],
'synonym': scaffold}
if band_num is not None and band_num.strip() != '':
# add the specific band
mybands[chrom_num+band_num] = {'min': start,
'max': stop,
'chr': chrom_num,
'ref': build_id,
'parent': None,
'stain': None,
'type': None}
# add the staining intensity of the band
if re.match(r'g(neg|pos|var)', rtype):
mybands[chrom_num+band_num]['stain'] = Feature.types.get(rtype)
# get the parent bands, and make them unique
parents = list(monochrom.make_parent_bands(band_num, set()))
# alphabetical sort will put them in smallest to biggest,
# so we reverse
parents.sort(reverse=True)
# print('parents of',chrom,band,':',parents)
if len(parents) > 0:
mybands[chrom_num+band_num]['parent'] = chrom_num+parents[0]
else:
# TODO PYLINT why is 'parent'
# a list() a couple of lines up and a set() here?
parents = set()
# loop through the parents and add them to the hash
# add the parents to the graph, in hierarchical order
# TODO PYLINT Consider using enumerate
# instead of iterating with range and len
for i in range(len(parents)):
rti = getChrPartTypeByNotation(parents[i])
pnum = chrom_num+parents[i]
sta = int(start)
sto = int(stop)
if pnum not in mybands.keys():
# add the parental band to the hash
b = {'min': min(sta, sto),
'max': max(sta, sto),
'chr': chrom_num,
'ref': build_id,
'parent': None,
'stain': None,
'type': rti}
mybands[pnum] = b
else:
# band already in the hash means it's a grouping band
# need to update the min/max coords
b = mybands.get(pnum)
b['min'] = min(sta, sto, b['min'])
b['max'] = max(sta, sto, b['max'])
mybands[pnum] = b
# also, set the max for the chrom
c = mybands.get(chrom_num)
c['max'] = max(sta, sto, c['max'])
mybands[chrom_num] = c
# add the parent relationships to each
if i < len(parents) - 1:
mybands[pnum]['parent'] = chrom_num+parents[i+1]
else:
# add the last one (p or q usually)
# as attached to the chromosome
mybands[pnum]['parent'] = chrom_num
f.close() # end looping through file
# loop through the hash and add the bands to the graph
for b in mybands.keys():
myband = mybands.get(b)
band_class_id = makeChromID(b, taxon, 'CHR')
band_class_label = makeChromLabel(b, genome_label)
band_build_id = makeChromID(b, build_num, 'MONARCH')
band_build_label = makeChromLabel(b, build_num)
# the build-specific chrom
chrom_in_build_id = makeChromID(myband['chr'], build_num, 'MONARCH')
# if it's != part, then add the class
if myband['type'] != Feature.types['assembly_component']:
self.gu.addClassToGraph(self.graph, band_class_id,
band_class_label, myband['type'])
bfeature = Feature(band_build_id, band_build_label,
band_class_id)
else:
bfeature = Feature(band_build_id, band_build_label,
myband['type'])
if 'synonym' in myband:
self.gu.addSynonym(self.graph, band_build_id,
myband['synonym'])
if myband['parent'] is None:
if myband['type'] == Feature.types['assembly_component']:
# since we likely don't know the chr,
# add it as a part of the build
geno.addParts(band_build_id, build_id)
elif myband['type'] == Feature.types['assembly_component']:
# geno.addParts(band_build_id, chrom_in_build_id)
parent_chrom_in_build = makeChromID(myband['parent'],
build_num, 'MONARCH')
bfeature.addSubsequenceOfFeature(self.graph,
parent_chrom_in_build)
# add the band as a feature
# (which also instantiates the owl:Individual)
bfeature.addFeatureStartLocation(myband['min'], chrom_in_build_id)
bfeature.addFeatureEndLocation(myband['max'], chrom_in_build_id)
if 'stain' in myband and myband['stain'] is not None:
# TODO TEC I recall 'has_staining_intensity' being dropped by MB
bfeature.addFeatureProperty(self.graph,
Feature.properties['has_staining_intensity'],
myband['stain'])
# type the band as a faldo:Region directly (add_region=False)
# bfeature.setNoBNodes(self.nobnodes)
# to come when we merge in ZFIN.py
bfeature.addFeatureToGraph(self.graph, False)
return
def _create_genome_builds(self):
"""
Various resources will map variations to either UCSC (hg*)
or to NCBI assemblies. Here we create the equivalences between them.
Data taken from:
https://genome.ucsc.edu/FAQ/FAQreleases.html#release1
:return:
"""
# TODO add more species
ucsc_assembly_id_map = {
"9606": {
"UCSC:hg38": "NCBIGenome:GRCh38",
"UCSC:hg19": "NCBIGenome:GRCh37",
"UCSC:hg18": "NCBIGenome:36.1",
"UCSC:hg17": "NCBIGenome:35",
"UCSC:hg16": "NCBIGenome:34",
"UCSC:hg15": "NCBIGenome:33",
},
"7955": {
"UCSC:danRer10": "NCBIGenome:GRCz10",
"UCSC:danRer7": "NCBIGenome:Zv9",
"UCSC:danRer6": "NCBIGenome:Zv8",
},
"10090": {
"UCSC:mm10": "NCBIGenome:GRCm38",
"UCSC:mm9": "NCBIGenome:37"
},
"9031": {
"UCSC:galGal4": "NCBIAssembly:317958",
},
"9913": {
"UCSC:bosTau7": "NCBIAssembly:GCF_000003205.5",
},
"9823": {
"UCSC:susScr3": "NCBIAssembly:304498",
},
"9940": {
"UCSC:oviAri3": "NCBIAssembly:GCF_000298735.1",
},
"9796": {
"UCSC:equCab2": "NCBIAssembly:GCF_000002305.2",
}
}
g = self.graph
geno = Genotype(g)
logger.info("Adding equivalent assembly identifiers")
for sp in ucsc_assembly_id_map:
tax_num = sp
tax_id = 'NCBITaxon:'+tax_num
mappings = ucsc_assembly_id_map[sp]
for i in mappings:
ucsc_id = i
ucsc_label = re.split(':', i)[1]
mapped_id = mappings[i]
mapped_label = re.split(':', mapped_id)[1]
mapped_label = 'NCBI build '+str(mapped_label)
geno.addReferenceGenome(ucsc_id, ucsc_label, tax_id)
geno.addReferenceGenome(mapped_id, mapped_label, tax_id)
self.gu.addSameIndividual(g, ucsc_id, mapped_id)
return
def _check_tax_ids(self):
for taxon in self.tax_ids:
if str(taxon) not in self.files:
raise Exception("Taxon " + str(taxon) + " not supported"
" by source UCSCBands")
def getTestSuite(self):
import unittest
from tests.test_ucscbands import UCSCBandsTestCase
test_suite = unittest.TestLoader().loadTestsFromTestCase(UCSCBandsTestCase)
return test_suite
def _get_variants(self, limit):
"""
Currently loops through the variant_summary file.
:param limit:
:return:
"""
gu = GraphUtils(curie_map.get())
if self.testMode:
g = self.testgraph
else:
g = self.graph
geno = Genotype(g)
gu.loadAllProperties(g)
f = Feature(None, None, None)
f.loadAllProperties(g)
gu.loadAllProperties(g)
# add the taxon and the genome
tax_num = '9606' # HARDCODE
tax_id = 'NCBITaxon:'+tax_num
tax_label = 'Human'
gu.addClassToGraph(g, tax_id, None)
geno.addGenome(tax_id, None) # label gets added elsewhere
# not unzipping the file
logger.info("Processing Variant records")
line_counter = 0
myfile = '/'.join((self.rawdir, self.files['variant_summary']['file']))
with gzip.open(myfile, 'rb') as f:
for line in f:
# skip comments
line = line.decode().strip()
if re.match('^#', line):
continue
# AlleleID integer value as stored in the AlleleID field in ClinVar (//Measure/@ID in the XML)
# Type character, the type of variation
# Name character, the preferred name for the variation
# GeneID integer, GeneID in NCBI's Gene database
# GeneSymbol character, comma-separated list of GeneIDs overlapping the variation
# ClinicalSignificance character, comma-separated list of values of clinical significance reported for this variation
# for the mapping between the terms listed here and the integers in the .VCF files, see
# http://www.ncbi.nlm.nih.gov/clinvar/docs/clinsig/
# RS# (dbSNP) integer, rs# in dbSNP
# nsv (dbVar) character, the NSV identifier for the region in dbVar
# RCVaccession character, list of RCV accessions that report this variant
# TestedInGTR character, Y/N for Yes/No if there is a test registered as specific to this variation in the NIH Genetic Testing Registry (GTR)
# PhenotypeIDs character, list of db names and identifiers for phenotype(s) reported for this variant
# Origin character, list of all allelic origins for this variation
# Assembly character, name of the assembly on which locations are based
# Chromosome character, chromosomal location
# Start integer, starting location, in pter->qter orientation
# Stop integer, end location, in pter->qter orientation
# Cytogenetic character, ISCN band
# ReviewStatus character, highest review status for reporting this measure. For the key to the terms,
# and their relationship to the star graphics ClinVar displays on its web pages,
# see http://www.ncbi.nlm.nih.gov/clinvar/docs/variation_report/#interpretation
# HGVS(c.) character, RefSeq cDNA-based HGVS expression
# HGVS(p.) character, RefSeq protein-based HGVS expression
# NumberSubmitters integer, number of submissions with this variant
# LastEvaluated datetime, the latest time any submitter reported clinical significance
# Guidelines character, ACMG only right now, for the reporting of incidental variation in a Gene
# (NOTE: if ACMG, not a specific to the allele but to the Gene)
# OtherIDs character, list of other identifiers or sources of information about this variant
# VariantID integer, the value used to build the URL for the current default report,
# e.g. http://www.ncbi.nlm.nih.gov/clinvar/variation/1756/
#
# a crude check that there's an expected number of cols. if not, error out because something changed.
num_cols = len(line.split('\t'))
expected_numcols = 28
if num_cols != expected_numcols:
logger.error("Unexpected number of columns in raw file (%d actual vs %d expected)",
num_cols, expected_numcols)
(allele_num, allele_type, allele_name, gene_num, gene_symbol, clinical_significance,
dbsnp_num, dbvar_num, rcv_nums, tested_in_gtr, phenotype_ids, origin,
assembly, chr, start, stop, cytogenetic_loc,
review_status, hgvs_c, hgvs_p, number_of_submitters, last_eval,
guidelines, other_ids, variant_num, reference_allele, alternate_allele, categories) = line.split('\t')
# #### set filter=None in init if you don't want to have a filter
# if self.filter is not None:
# if ((self.filter == 'taxids' and (int(tax_num) not in self.tax_ids))
# or (self.filter == 'geneids' and (int(gene_num) not in self.gene_ids))):
# continue
# #### end filter
line_counter += 1
pheno_list = []
if phenotype_ids != '-':
# trim any leading/trailing semicolons/commas
phenotype_ids = re.sub('^[;,]', '', phenotype_ids)
phenotype_ids = re.sub('[;,]$', '', phenotype_ids)
pheno_list = re.split('[,;]', phenotype_ids)
if self.testMode:
# get intersection of test disease ids and these phenotype_ids
intersect = list(set([str(i) for i in self.disease_ids]) & set(pheno_list))
if int(gene_num) not in self.gene_ids and int(variant_num) not in self.variant_ids \
and len(intersect) < 1:
continue
# TODO may need to switch on assembly to create correct assembly/build identifiers
build_id = ':'.join(('NCBIGenome', assembly))
# make the reference genome build
geno.addReferenceGenome(build_id, assembly, tax_id)
allele_type_id = self._map_type_of_allele(allele_type)
bandinbuild_id = None
if str(chr) == '':
# check cytogenic location
if str(cytogenetic_loc).strip() != '':
# use cytogenic location to get the approximate location
# strangely, they still put an assembly number even when there's no numeric location
if not re.search('-',str(cytogenetic_loc)):
band_id = makeChromID(re.split('-',str(cytogenetic_loc)), tax_num, 'CHR')
geno.addChromosomeInstance(cytogenetic_loc, build_id, assembly, band_id)
bandinbuild_id = makeChromID(re.split('-',str(cytogenetic_loc)), assembly, 'MONARCH')
else:
# can't deal with ranges yet
pass
else:
# add the human chromosome class to the graph, and add the build-specific version of it
chr_id = makeChromID(str(chr), tax_num, 'CHR')
geno.addChromosomeClass(str(chr), tax_id, tax_label)
geno.addChromosomeInstance(str(chr), build_id, assembly, chr_id)
chrinbuild_id = makeChromID(str(chr), assembly, 'MONARCH')
seqalt_id = ':'.join(('ClinVarVariant', variant_num))
gene_id = None
if str(gene_num) != '-1' and str(gene_num) != 'more than 10': # they use -1 to indicate unknown gene
gene_id = ':'.join(('NCBIGene', str(gene_num)))
# FIXME there are some "variants" that are actually haplotypes
# probably will get taken care of when we switch to processing the xml
# for example, variant_num = 38562
# but there's no way to tell if it's a haplotype in the csv data
# so the dbsnp or dbvar should probably be primary, and the variant num be the vslc,
# with each of the dbsnps being added to it
# todo clinical significance needs to be mapped to a list of terms
# first, make the variant:
f = Feature(seqalt_id, allele_name, allele_type_id)
if start != '-' and start.strip() != '':
f.addFeatureStartLocation(start, chrinbuild_id)
if stop != '-' and stop.strip() != '':
f.addFeatureEndLocation(stop, chrinbuild_id)
f.addFeatureToGraph(g)
if bandinbuild_id is not None:
f.addSubsequenceOfFeature(g, bandinbuild_id)
# CHECK - this makes the assumption that there is only one affected chromosome per variant
# what happens with chromosomal rearrangement variants? shouldn't both chromosomes be here?
# add the hgvs as synonyms
if hgvs_c != '-' and hgvs_c.strip() != '':
gu.addSynonym(g, seqalt_id, hgvs_c)
if hgvs_p != '-' and hgvs_p.strip() != '':
gu.addSynonym(g, seqalt_id, hgvs_p)
# add the dbsnp and dbvar ids as equivalent
if dbsnp_num != '-' and int(dbsnp_num) != -1:
dbsnp_id = 'dbSNP:rs'+str(dbsnp_num)
gu.addIndividualToGraph(g, dbsnp_id, None)
gu.addSameIndividual(g, seqalt_id, dbsnp_id)
if dbvar_num != '-':
dbvar_id = 'dbVar:'+dbvar_num
gu.addIndividualToGraph(g, dbvar_id, None)
gu.addSameIndividual(g, seqalt_id, dbvar_id)
# TODO - not sure if this is right... add as xref?
# the rcv is like the combo of the phenotype with the variant
if rcv_nums != '-':
for rcv_num in re.split(';',rcv_nums):
rcv_id = 'ClinVar:'+rcv_num
gu.addIndividualToGraph(g, rcv_id, None)
gu.addXref(g, seqalt_id, rcv_id)
if gene_id is not None:
# add the gene
gu.addClassToGraph(g, gene_id, gene_symbol)
# make a variant locus
vl_id = '_'+gene_num+'-'+variant_num
if self.nobnodes:
vl_id = ':'+vl_id
vl_label = allele_name
gu.addIndividualToGraph(g, vl_id, vl_label, geno.genoparts['variant_locus'])
geno.addSequenceAlterationToVariantLocus(seqalt_id, vl_id)
geno.addAlleleOfGene(vl_id, gene_id)
else:
# some basic reporting
gmatch = re.search('\(\w+\)', allele_name)
if gmatch is not None and len(gmatch.groups()) > 0:
logger.info("Gene found in allele label, but no id provided: %s", gmatch.group(1))
elif re.match('more than 10', gene_symbol):
logger.info("More than 10 genes found; need to process XML to fetch (variant=%d)", int(variant_num))
else:
logger.info("No gene listed for variant %d", int(variant_num))
# parse the list of "phenotypes" which are diseases. add them as an association
# ;GeneReviews:NBK1440,MedGen:C0392514,OMIM:235200,SNOMED CT:35400008;MedGen:C3280096,OMIM:614193;MedGen:CN034317,OMIM:612635;MedGen:CN169374
# the list is both semicolon delimited and comma delimited, but i don't know why!
# some are bad, like: Orphanet:ORPHA ORPHA319705,SNOMED CT:49049000
if phenotype_ids != '-':
for p in pheno_list:
m = re.match("(Orphanet:ORPHA(?:\s*ORPHA)?)", p)
if m is not None and len(m.groups()) > 0:
p = re.sub(m.group(1), 'Orphanet:', p.strip())
elif re.match('SNOMED CT', p):
p = re.sub('SNOMED CT', 'SNOMED', p.strip())
assoc = G2PAssoc(self.name, seqalt_id, p.strip())
assoc.add_association_to_graph(g)
if other_ids != '-':
id_list = other_ids.split(',')
# process the "other ids"
# ex: CFTR2:F508del,HGMD:CD890142,OMIM Allelic Variant:602421.0001
# TODO make more xrefs
for xrefid in id_list:
prefix = xrefid.split(':')[0].strip()
if prefix == 'OMIM Allelic Variant':
xrefid = 'OMIM:'+xrefid.split(':')[1]
gu.addIndividualToGraph(g, xrefid, None)
gu.addSameIndividual(g, seqalt_id, xrefid)
elif prefix == 'HGMD':
gu.addIndividualToGraph(g, xrefid, None)
gu.addSameIndividual(g, seqalt_id, xrefid)
elif prefix == 'dbVar' and dbvar_num == xrefid.split(':')[1].strip():
pass # skip over this one
elif re.search('\s', prefix):
pass
# logger.debug('xref prefix has a space: %s', xrefid)
else:
# should be a good clean prefix
# note that HGMD variants are in here as Xrefs because we can't resolve URIs for them
# logger.info("Adding xref: %s", xrefid)
# gu.addXref(g, seqalt_id, xrefid)
# logger.info("xref prefix to add: %s", xrefid)
pass
if not self.testMode and limit is not None and line_counter > limit:
break
gu.loadProperties(g, G2PAssoc.object_properties, gu.OBJPROP)
gu.loadProperties(g, G2PAssoc.annotation_properties, gu.ANNOTPROP)
gu.loadProperties(g, G2PAssoc.datatype_properties, gu.DATAPROP)
logger.info("Finished parsing variants")
return
def process_gaf(self, file, limit, id_map=None):
if self.testMode:
g = self.testgraph
else:
g = self.graph
gu = GraphUtils(curie_map.get())
geno = Genotype(g)
logger.info("Processing Gene Associations from %s", file)
line_counter = 0
zfin = wbase = None
if 7955 in self.tax_ids:
zfin = ZFIN()
elif 6239 in self.tax_ids:
wbase = WormBase()
with gzip.open(file, 'rb') as csvfile:
filereader = csv.reader(io.TextIOWrapper(csvfile, newline=""),
delimiter='\t', quotechar='\"')
for row in filereader:
line_counter += 1
# comments start with exclamation
if re.match(r'!', ''.join(row)):
continue
(db, gene_num, gene_symbol, qualifier, go_id, ref, eco_symbol,
with_or_from, aspect, gene_name, gene_synonym, object_type,
taxon, date, assigned_by, annotation_extension,
gene_product_form_id) = row
# test for required fields
if (db == '' or gene_num == '' or gene_symbol == '' or
go_id == '' or ref == '' or eco_symbol == '' or
aspect == '' or object_type == '' or taxon == '' or
date == '' or assigned_by == ''):
logger.error(
"Missing required part of annotation " +
"on row %d:\n"+'\t'.join(row),
line_counter)
continue
# deal with qualifier NOT, contributes_to, colocalizes_with
if re.search(r'NOT', qualifier):
continue
db = self.clean_db_prefix(db)
uniprotid = None
gene_id = None
if db == 'UniProtKB':
mapped_ids = id_map.get(gene_num)
if id_map is not None and mapped_ids is not None:
if len(mapped_ids) == 1:
gene_id = mapped_ids[0]
uniprotid = ':'.join((db, gene_num))
gene_num = re.sub(r'\w+\:', '', gene_id)
elif len(mapped_ids) > 1:
# logger.warning(
# "Skipping gene id mapped for >1 gene %s -> %s",
# gene_num, str(mapped_ids))
continue
else:
continue
elif db == 'MGI':
gene_num = re.sub(r'MGI:', '', gene_num)
gene_id = ':'.join((db, gene_num))
gene_id = re.sub(r'MGI\:MGI\:', 'MGI:', gene_id)
else:
gene_id = ':'.join((db, gene_num))
if self.testMode \
and not(
re.match(r'NCBIGene', gene_id) and
int(gene_num) in self.test_ids):
continue
gu.addClassToGraph(g, gene_id, gene_symbol)
if gene_name != '':
gu.addDescription(g, gene_id, gene_name)
if gene_synonym != '':
for s in re.split(r'\|', gene_synonym):
gu.addSynonym(g, gene_id, s.strip())
if re.search(r'\|', taxon):
# TODO add annotations with >1 taxon
logger.info(">1 taxon (%s) on line %d. skipping", taxon,
line_counter)
else:
tax_id = re.sub(r'taxon:', 'NCBITaxon:', taxon)
geno.addTaxon(tax_id, gene_id)
assoc = Assoc(self.name)
assoc.set_subject(gene_id)
assoc.set_object(go_id)
eco_id = self.map_go_evidence_code_to_eco(eco_symbol)
if eco_id is not None:
assoc.add_evidence(eco_id)
refs = re.split(r'\|', ref)
for r in refs:
r = r.strip()
if r != '':
prefix = re.split(r':', r)[0]
r = re.sub(prefix, self.clean_db_prefix(prefix), r)
r = re.sub(r'MGI\:MGI\:', 'MGI:', r)
ref = Reference(r)
if re.match(r'PMID', r):
ref_type = Reference.ref_types['journal_article']
ref.setType(ref_type)
ref.addRefToGraph(g)
assoc.add_source(r)
# TODO add the source of the annotations from assigned by?
aspect_rel_map = {
'P': gu.object_properties['involved_in'], # involved in
'F': gu.object_properties['enables'], # enables
'C': gu.object_properties['part_of'] # part of
}
if aspect not in aspect_rel_map:
logger.error("Aspect not recognized: %s", aspect)
rel = aspect_rel_map.get(aspect)
if aspect == 'F' and re.search(r'contributes_to', qualifier):
rel = gu.object_properties['contributes_to']
assoc.set_relationship(rel)
if uniprotid is not None:
assoc.set_description('Mapped from '+uniprotid)
# object_type should be one of:
# protein_complex; protein; transcript; ncRNA; rRNA; tRNA;
# snRNA; snoRNA; any subtype of ncRNA in the Sequence Ontology.
# If the precise product type is unknown,
# gene_product should be used
assoc.add_association_to_graph(g)
# Derive G2P Associations from IMP annotations
# in version 2.1 Pipe will indicate 'OR'
# and Comma will indicate 'AND'.
# in version 2.0, multiple values are separated by pipes
# where the pipe has been used to mean 'AND'
if eco_symbol == 'IMP' and with_or_from != '':
withitems = re.split(r'\|', with_or_from)
phenotypeid = go_id+'PHENOTYPE'
# create phenotype associations
for i in withitems:
if i == '' or \
re.match(
r'(UniProtKB|WBPhenotype|InterPro|HGNC)',
i):
logger.warning(
"Don't know what having a uniprot id " +
"in the 'with' column means of %s",
uniprotid)
continue
i = re.sub(r'MGI\:MGI\:', 'MGI:', i)
i = re.sub(r'WB:', 'WormBase:', i)
# for worms and fish, they might give a RNAi or MORPH
# in these cases make a reagent-targeted gene
if re.search('MRPHLNO|CRISPR|TALEN', i):
targeted_gene_id = zfin.make_targeted_gene_id(
gene_id, i, self.nobnodes)
geno.addReagentTargetedGene(i, gene_id,
targeted_gene_id)
# TODO PYLINT why is this:
# Redefinition of assoc type from
# dipper.models.assoc.Association.Assoc to
# dipper.models.assoc.G2PAssoc.G2PAssoc
assoc = G2PAssoc(self.name, targeted_gene_id,
phenotypeid)
elif re.search(r'WBRNAi', i):
targeted_gene_id = \
wbase.make_reagent_targeted_gene_id(
gene_id, i, self.nobnodes)
geno.addReagentTargetedGene(
i, gene_id, targeted_gene_id)
assoc = G2PAssoc(
self.name, targeted_gene_id, phenotypeid)
else:
assoc = G2PAssoc(self.name, i, phenotypeid)
for r in refs:
r = r.strip()
if r != '':
prefix = re.split(r':', r)[0]
r = re.sub(
prefix, self.clean_db_prefix(prefix), r)
r = re.sub(r'MGI\:MGI\:', 'MGI:', r)
assoc.add_source(r)
# experimental phenotypic evidence
assoc.add_evidence("ECO:0000059")
assoc.add_association_to_graph(g, self.nobnodes)
# TODO should the G2PAssoc be
# the evidence for the GO assoc?
if not self.testMode and \
limit is not None and line_counter > limit:
break
return
def _process_nlx_157874_1_view(self, raw, limit=None):
"""
This table contains the Elements of Morphology data that has been
screen-scraped into DISCO.
Note that foaf:depiction is inverse of foaf:depicts relationship.
Since it is bad form to have two definitions,
we concatenate the two into one string.
Triples:
<eom id> a owl:Class
rdf:label Literal(eom label)
OIO:hasRelatedSynonym Literal(synonym list)
IAO:definition Literal(objective_def. subjective def)
foaf:depiction Literal(small_image_url),
Literal(large_image_url)
foaf:page Literal(page_url)
rdfs:comment Literal(long commented text)
:param raw:
:param limit:
:return:
"""
gu = GraphUtils(curie_map.get())
line_counter = 0
with open(raw, 'r') as f1:
f1.readline() # read the header row; skip
filereader = csv.reader(f1, delimiter='\t', quotechar='\"')
for line in filereader:
line_counter += 1
(morphology_term_id, morphology_term_num,
morphology_term_label, morphology_term_url,
terminology_category_label, terminology_category_url,
subcategory, objective_definition, subjective_definition,
comments, synonyms, replaces, small_figure_url,
large_figure_url, e_uid, v_uid, v_uuid,
v_last_modified) = line
# note:
# e_uid v_uuid v_last_modified terminology_category_url
# subcategory v_uid morphology_term_num
# terminology_category_label hp_label notes
# are currently unused.
# Add morphology term to graph as a class
# with label, type, and description.
gu.addClassToGraph(self.graph, morphology_term_id,
morphology_term_label)
# Assemble the description text
if subjective_definition != '' and not (
re.match(r'.+\.$', subjective_definition)):
# add a trailing period.
subjective_definition = subjective_definition.strip() + '.'
if objective_definition != '' and not (
re.match(r'.+\.$', objective_definition)):
# add a trailing period.
objective_definition = objective_definition.strip() + '.'
definition = \
' '.join(
(objective_definition, subjective_definition)).strip()
gu.addDefinition(self.graph, morphology_term_id, definition)
# <term id> FOAF:depicted_by literal url
# <url> type foaf:depiction
# do we want both images?
# morphology_term_id has depiction small_figure_url
if small_figure_url != '':
gu.addDepiction(self.graph, morphology_term_id,
small_figure_url)
# morphology_term_id has depiction large_figure_url
if large_figure_url != '':
gu.addDepiction(self.graph, morphology_term_id,
large_figure_url)
# morphology_term_id has comment comments
if comments != '':
gu.addComment(self.graph, morphology_term_id,
comments.strip())
if synonyms != '':
for s in synonyms.split(';'):
gu.addSynonym(
self.graph, morphology_term_id, s.strip(),
gu.properties['hasExactSynonym'])
# morphology_term_id hasRelatedSynonym replaces (; delimited)
if replaces != '' and replaces != synonyms:
for s in replaces.split(';'):
gu.addSynonym(
self.graph, morphology_term_id, s.strip(),
gu.properties['hasRelatedSynonym'])
# morphology_term_id has page morphology_term_url
gu.addPage(self.graph, morphology_term_id, morphology_term_url)
if limit is not None and line_counter > limit:
break
return
def _process_ortholog_classes(self, limit=None):
"""
This method add the KEGG orthology classes to the graph.
If there's an embedded enzyme commission number,
that is added as an xref.
Triples created:
<orthology_class_id> is a class
<orthology_class_id> has label <orthology_symbols>
<orthology_class_id> has description <orthology_description>
:param limit:
:return:
"""
logger.info("Processing ortholog classes")
if self.testMode:
g = self.testgraph
else:
g = self.graph
line_counter = 0
gu = GraphUtils(curie_map.get())
raw = '/'.join((self.rawdir, self.files['ortholog_classes']['file']))
with open(raw, 'r', encoding="iso-8859-1") as csvfile:
filereader = csv.reader(csvfile, delimiter='\t', quotechar='\"')
for row in filereader:
line_counter += 1
(orthology_class_id, orthology_class_name) = row
if self.testMode and \
orthology_class_id not in \
self.test_ids['orthology_classes']:
continue
# The orthology class is essentially a KEGG gene ID
# that is species agnostic.
# Add the ID and label as a gene family class
other_labels = re.split(r'[;,]', orthology_class_name)
# the first one is the label we'll use
orthology_label = other_labels[0]
orthology_class_id = 'KEGG-'+orthology_class_id.strip()
orthology_type = OrthologyAssoc.terms['gene_family']
gu.addClassToGraph(g, orthology_class_id, orthology_label,
orthology_type)
if len(other_labels) > 1:
# add the rest as synonyms
# todo skip the first
for s in other_labels:
gu.addSynonym(g, orthology_class_id, s.strip())
# add the last one as the description
d = other_labels[len(other_labels)-1]
gu.addDescription(g, orthology_class_id, d)
# add the enzyme commission number (EC:1.2.99.5)as an xref
# sometimes there's two, like [EC:1.3.5.1 1.3.5.4]
# can also have a dash, like EC:1.10.3.-
ec_matches = re.findall(r'((?:\d+|\.|-){5,7})', d)
if ec_matches is not None:
for ecm in ec_matches:
gu.addXref(g, orthology_class_id, 'EC:'+ecm)
if not self.testMode and \
limit is not None and line_counter > limit:
break
logger.info("Done with ortholog classes")
return
def _process_diseasegene(self, limit):
"""
:param limit:
:return:
"""
if self.testMode:
g = self.testgraph
else:
g = self.graph
line_counter = 0
geno = Genotype(g)
gu = GraphUtils(curie_map.get())
myfile = "/".join((self.rawdir, self.files["disease-gene"]["file"]))
for event, elem in ET.iterparse(myfile):
if elem.tag == "Disorder":
# get the element name and id
# id = elem.get('id') # some internal identifier
disorder_num = elem.find("OrphaNumber").text
disorder_id = "Orphanet:" + str(disorder_num)
if self.testMode and disorder_id not in config.get_config()["test_ids"]["disease"]:
continue
disorder_label = elem.find("Name").text
# make a hash of internal gene id to type for later lookup
gene_iid_to_type = {}
gene_list = elem.find("GeneList")
for gene in gene_list.findall("Gene"):
gene_iid = gene.get("id")
gene_type = gene.find("GeneType").get("id")
gene_iid_to_type[gene_iid] = gene_type
gu.addClassToGraph(g, disorder_id, disorder_label) # assuming that these are in the ontology
assoc_list = elem.find("DisorderGeneAssociationList")
for a in assoc_list.findall("DisorderGeneAssociation"):
gene_iid = a.find(".//Gene").get("id")
gene_name = a.find(".//Gene/Name").text
gene_symbol = a.find(".//Gene/Symbol").text
gene_num = a.find("./Gene/OrphaNumber").text
gene_id = "Orphanet:" + str(gene_num)
gene_type_id = self._map_gene_type_id(gene_iid_to_type[gene_iid])
gu.addClassToGraph(g, gene_id, gene_symbol, gene_type_id, gene_name)
syn_list = a.find("./Gene/SynonymList")
if int(syn_list.get("count")) > 0:
for s in syn_list.findall("./Synonym"):
gu.addSynonym(g, gene_id, s.text)
dgtype = a.find("DisorderGeneAssociationType").get("id")
rel_id = self._map_rel_id(dgtype)
dg_label = a.find("./DisorderGeneAssociationType/Name").text
if rel_id is None:
logger.warn(
"Cannot map association type (%s) to RO for association (%s | %s). Skipping.",
dg_label,
disorder_label,
gene_symbol,
)
continue
alt_locus_id = "_" + gene_num + "-" + disorder_num + "VL"
alt_label = " ".join(
("some variant of", gene_symbol.strip(), "that is a", dg_label.lower(), disorder_label)
)
if self.nobnodes:
alt_locus_id = ":" + alt_locus_id
gu.addIndividualToGraph(g, alt_locus_id, alt_label, geno.genoparts["variant_locus"])
geno.addAlleleOfGene(alt_locus_id, gene_id)
# consider typing the gain/loss-of-function variants like:
# http://sequenceontology.org/browser/current_svn/term/SO:0002054
# http://sequenceontology.org/browser/current_svn/term/SO:0002053
# use "assessed" status to issue an evidence code
# FIXME I think that these codes are sub-optimal
status_code = a.find("DisorderGeneAssociationStatus").get("id")
eco_id = "ECO:0000323" # imported automatically asserted information used in automatic assertion
if status_code == "17991": # Assessed # TODO are these internal ids stable between releases?
eco_id = "ECO:0000322" # imported manually asserted information used in automatic assertion
# Non-traceable author statement ECO_0000034
# imported information in automatic assertion ECO_0000313
assoc = G2PAssoc(self.name, alt_locus_id, disorder_id, rel_id)
assoc.add_evidence(eco_id)
assoc.add_association_to_graph(g)
rlist = a.find("./Gene/ExternalReferenceList")
eqid = None
for r in rlist.findall("ExternalReference"):
if r.find("Source").text == "Ensembl":
eqid = "ENSEMBL:" + r.find("Reference").text
elif r.find("Source").text == "HGNC":
eqid = "HGNC:" + r.find("Reference").text
elif r.find("Source").text == "OMIM":
eqid = "OMIM:" + r.find("Reference").text
else:
pass # skip the others for now
if eqid is not None:
gu.addClassToGraph(g, eqid, None)
gu.addEquivalentClass(g, gene_id, eqid)
pass
elem.clear() # discard the element
if self.testMode and limit is not None and line_counter > limit:
return
gu.loadProperties(g, G2PAssoc.annotation_properties, G2PAssoc.ANNOTPROP)
gu.loadProperties(g, G2PAssoc.datatype_properties, G2PAssoc.DATAPROP)
gu.loadProperties(g, G2PAssoc.object_properties, G2PAssoc.OBJECTPROP)
gu.loadAllProperties(g)
return
def _process_genes(self, limit=None):
"""
This method processes the KEGG gene IDs.
The label for the gene is pulled as the first symbol in the list of gene symbols; the rest
are added as synonyms. The long-form of the gene name is added as a definition.
This is hardcoded to just processes human genes.
Triples created:
<gene_id> is a SO:gene
<gene_id> rdfs:label <gene_name>
:param limit:
:return:
"""
logger.info("Processing genes")
if self.testMode:
g = self.testgraph
else:
g = self.graph
line_counter = 0
gu = GraphUtils(curie_map.get())
geno = Genotype(g)
raw = '/'.join((self.rawdir, self.files['hsa_genes']['file']))
with open(raw, 'r', encoding="iso-8859-1") as csvfile:
filereader = csv.reader(csvfile, delimiter='\t', quotechar='\"')
for row in filereader:
line_counter += 1
(gene_id, gene_name) = row
gene_id = 'KEGG-'+gene_id.strip()
# the gene listing has a bunch of labels that are delimited, like:
# DST, BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBSB2, HSAN6, MACF2; dystonin; K10382 dystonin
# it looks like the list is semicolon delimited (symbol, name, gene_class)
# where the symbol is a comma-delimited list
# here, we split them up. we will take the first abbreviation and make it the symbol
# then take the rest as synonyms
gene_stuff = re.split(';', gene_name)
symbollist = re.split(',', gene_stuff[0])
first_symbol = symbollist[0].strip()
if gene_id not in self.label_hash:
self.label_hash[gene_id] = first_symbol
if self.testMode and gene_id not in self.test_ids['genes']:
continue
# Add the gene as a class.
geno.addGene(gene_id, first_symbol)
# add the long name as the description
if len(gene_stuff) > 1:
description = gene_stuff[1].strip()
gu.addDefinition(g, gene_id, description)
# add the rest of the symbols as synonyms
for i in enumerate(symbollist, start=1):
gu.addSynonym(g, gene_id, i[1].strip())
# TODO add the KO here?
if (not self.testMode) and (limit is not None and line_counter > limit):
break
logger.info("Done with genes")
return
def process_feature_loc(self, limit):
raw = '/'.join((self.rawdir, self.files['feature_loc']['file']))
if self.testMode:
g = self.testgraph
else:
g = self.graph
gu = GraphUtils(curie_map.get())
logger.info("Processing Feature location and attributes")
line_counter = 0
geno = Genotype(g)
strain_to_variant_map = {}
build_num = self.version_num
build_id = 'WormBase:'+build_num
with gzip.open(raw, 'rb') as csvfile:
filereader = csv.reader(
io.TextIOWrapper(csvfile, newline=""), delimiter='\t',
quotechar='\"')
for row in filereader:
if re.match(r'\#', ''.join(row)):
continue
(chrom, db, feature_type_label, start, end, score, strand,
phase, attributes) = row
# I interpolated_pmap_position gene 1 559768 . . . ID=gmap:spe-13;gmap=spe-13;status=uncloned;Note=-21.3602 cM (+/- 1.84 cM)
# I WormBase gene 3747 3909 . - . ID=Gene:WBGene00023193;Name=WBGene00023193;interpolated_map_position=-21.9064;sequence_name=Y74C9A.6;biotype=snoRNA;Alias=Y74C9A.6
# I absolute_pmap_position gene 4119 10230 . . . ID=gmap:homt-1;gmap=homt-1;status=cloned;Note=-21.8252 cM (+/- 0.00 cM)
# dbs = re.split(
# r' ', 'assembly_component expressed_sequence_match Coding_transcript Genomic_canonical Non_coding_transcript Orfeome Promoterome Pseudogene RNAi_primary RNAi_secondary Reference Transposon Transposon_CDS cDNA_for_RNAi miRanda ncRNA operon polyA_signal_sequence polyA_site snlRNA')
#
# if db not in dbs:
# continue
if feature_type_label not in [
'gene', 'point_mutation', 'deletion', 'RNAi_reagent',
'duplication', 'enhancer', 'binding_site',
'biological_region', 'complex_substitution',
'substitution', 'insertion', 'inverted_repeat']:
# note biological_regions include balancers
# other options here: promoter, regulatory_region, reagent
continue
line_counter += 1
attribute_dict = {}
if attributes != '':
attribute_dict = dict(
item.split("=")for item in
re.sub(r'"', '', attributes).split(";"))
fid = flabel = desc = None
if 'ID' in attribute_dict:
fid = attribute_dict.get('ID')
if re.search(r'WB(Gene|Var|sf)', fid):
fid = re.sub(r'^\w+:WB', 'WormBase:WB', fid)
elif re.match(r'(gmap|landmark)', fid):
continue
else:
logger.info('other identifier %s', fid)
fid = None
elif 'variation' in attribute_dict:
fid = 'WormBase:'+attribute_dict.get('variation')
flabel = attribute_dict.get('public_name')
sub = attribute_dict.get('substitution')
ins = attribute_dict.get('insertion')
# if it's a variation:
# variation=WBVar00604246;public_name=gk320600;strain=VC20384;substitution=C/T
desc = ''
if sub is not None:
desc = 'substitution='+sub
if ins is not None:
desc = 'insertion='+ins
# keep track of the strains with this variation,
# for later processing
strain_list = attribute_dict.get('strain')
if strain_list is not None:
for s in re.split(r',', strain_list):
if s.strip() not in strain_to_variant_map:
strain_to_variant_map[s.strip()] = set()
strain_to_variant_map[s.strip()].add(fid)
# if feature_type_label == 'RNAi_reagent':
# Target=WBRNAi00096030 1 4942
# this will tell us where the RNAi is actually binding
# target = attribute_dict.get('Target') # TODO unused
# rnai_num = re.split(r' ', target)[0] # TODO unused
# it will be the reagent-targeted-gene that has a position,
# (i think)
# TODO finish the RNAi binding location
name = attribute_dict.get('Name')
polymorphism = attribute_dict.get('polymorphism')
if fid is None:
if name is not None and re.match(r'WBsf', name):
fid = 'WormBase:'+name
name = None
else:
continue
if self.testMode \
and re.sub(r'WormBase:', '', fid) \
not in self.test_ids['gene']+self.test_ids['allele']:
continue
# these really aren't that interesting
if polymorphism is not None:
continue
if name is not None and not re.search(name, fid):
if flabel is None:
flabel = name
else:
gu.addSynonym(g, fid, name)
if desc is not None:
gu.addDescription(g, fid, desc)
alias = attribute_dict.get('Alias')
biotype = attribute_dict.get('biotype')
note = attribute_dict.get('Note')
other_name = attribute_dict.get('other_name')
for n in [alias, other_name]:
if n is not None:
gu.addSynonym(g, fid, other_name)
ftype = self.get_feature_type_by_class_and_biotype(
feature_type_label, biotype)
chr_id = makeChromID(chrom, build_id, 'CHR')
geno.addChromosomeInstance(chrom, build_id, build_num)
f = Feature(fid, flabel, ftype)
f.addFeatureStartLocation(start, chr_id, strand)
f.addFeatureEndLocation(start, chr_id, strand)
feature_is_class = False
if feature_type_label == 'gene':
feature_is_class = True
f.addFeatureToGraph(g, True, None, feature_is_class)
if note is not None:
gu.addDescription(g, fid, note)
if not self.testMode \
and limit is not None and line_counter > limit:
break
# RNAi reagents:
# I RNAi_primary RNAi_reagent 4184 10232 . + . Target=WBRNAi00001601 1 6049 +;laboratory=YK;history_name=SA:yk326e10
# I RNAi_primary RNAi_reagent 4223 10147 . + . Target=WBRNAi00033465 1 5925 +;laboratory=SV;history_name=MV_SV:mv_G_YK5052
# I RNAi_primary RNAi_reagent 5693 9391 . + . Target=WBRNAi00066135 1 3699 +;laboratory=CH
# TODO TF bindiing sites and network:
# I TF_binding_site_region TF_binding_site 1861 2048 . + . Name=WBsf292777;tf_id=WBTranscriptionFactor000025;tf_name=DAF-16
# I TF_binding_site_region TF_binding_site 3403 4072 . + . Name=WBsf331847;tf_id=WBTranscriptionFactor000703;tf_name=DPL-1
return
def _process_all(self, limit):
"""
This takes the list of omim identifiers from the omim.txt.Z file,
and iteratively queries the omim api for the json-formatted data.
This will create OMIM classes, with the label, definition, and some synonyms.
If an entry is "removed", it is added as a deprecated class.
If an entry is "moved", it is deprecated and consider annotations are added.
Additionally, we extract:
*phenotypicSeries ids as superclasses
*equivalent ids for Orphanet and UMLS
If set to testMode, it will write only those items in the test_ids to the testgraph.
:param limit:
:return:
"""
omimids = self._get_omim_ids() # store the set of omim identifiers
omimparams = {
'format': 'json',
'include': 'all',
}
# you will need to add the API key into the conf.json file, like:
# keys : { 'omim' : '<your api key here>' }
omimparams.update({'apiKey': config.get_config()['keys']['omim']})
# http://api.omim.org/api/entry?mimNumber=100100&include=all
if self.testMode:
g = self.testgraph
else:
g = self.graph
gu = GraphUtils(curie_map.get())
it = 0 # for counting
# note that you can only do request batches of 20
# see info about "Limits" at http://omim.org/help/api
groupsize = 20
if not self.testMode and limit is not None:
# just in case the limit is larger than the number of records, max it out
max = min((limit, omimids.__len__()))
else:
max = omimids.__len__()
# max = 10 #for testing
# TODO write the json to local files - make the assumption that downloads within 24 hrs are the same
# now, loop through the omim numbers and pull the records as json docs
while it < max:
end = min((max, it+groupsize))
# iterate through the omim ids list, and fetch from the OMIM api in batches of 20
if self.testMode:
intersect = list(set([str(i) for i in self.test_ids]) & set(omimids[it:end]))
if len(intersect) > 0: # some of the test ids are in the omimids
logger.info("found test ids: %s", intersect)
omimparams.update({'mimNumber': ','.join(intersect)})
else:
it += groupsize
continue
else:
omimparams.update({'mimNumber': ','.join(omimids[it:end])})
p = urllib.parse.urlencode(omimparams)
url = '/'.join((self.OMIM_API, 'entry'))+'?%s' % p
logger.info('fetching: %s', '/'.join((self.OMIM_API, 'entry'))+'?%s' % p)
# ### if you want to test a specific entry number, uncomment the following code block
# if ('101600' in omimids[it:end]): #104000
# print("FOUND IT in",omimids[it:end])
# else:
# #testing very specific record
# it+=groupsize
# continue
# ### end code block for testing
# print ('fetching:',(',').join(omimids[it:end]))
# print('url:',url)
d = urllib.request.urlopen(url)
resp = d.read().decode()
request_time = datetime.now()
it += groupsize
myjson = json.loads(resp)
entries = myjson['omim']['entryList']
geno = Genotype(g)
# add genome and taxon
tax_num = '9606'
tax_id = 'NCBITaxon:9606'
tax_label = 'Human'
geno.addGenome(tax_id, str(tax_num)) # tax label can get added elsewhere
gu.addClassToGraph(g, tax_id, None) # label added elsewhere
for e in entries:
# get the numbers, labels, and descriptions
omimnum = e['entry']['mimNumber']
titles = e['entry']['titles']
label = titles['preferredTitle']
other_labels = []
if 'alternativeTitles' in titles:
other_labels += self._get_alt_labels(titles['alternativeTitles'])
if 'includedTitles' in titles:
other_labels += self._get_alt_labels(titles['includedTitles'])
# add synonyms of alternate labels
# preferredTitle": "PFEIFFER SYNDROME",
# "alternativeTitles": "ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;;\nACS V;;\nNOACK SYNDROME",
# "includedTitles": "CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED"
# remove the abbreviation (comes after the ;) from the preferredTitle, and add it as a synonym
abbrev = None
if len(re.split(';', label)) > 1:
abbrev = (re.split(';', label)[1].strip())
newlabel = self._cleanup_label(label)
description = self._get_description(e['entry'])
omimid = 'OMIM:'+str(omimnum)
if e['entry']['status'] == 'removed':
gu.addDeprecatedClass(g, omimid)
else:
omimtype = self._get_omimtype(e['entry'])
# this uses our cleaned-up label
gu.addClassToGraph(g, omimid, newlabel, omimtype)
# add the original OMIM label as a synonym
gu.addSynonym(g, omimid, label)
# add the alternate labels and includes as synonyms
for l in other_labels:
gu.addSynonym(g, omimid, l)
# for OMIM, we're adding the description as a definition
gu.addDefinition(g, omimid, description)
if abbrev is not None:
gu.addSynonym(g, omimid, abbrev)
# if this is a genetic locus (but not sequenced) then add the chrom loc info
if omimtype == Genotype.genoparts['biological_region']:
if 'geneMapExists' in e['entry'] and e['entry']['geneMapExists']:
genemap = e['entry']['geneMap']
if 'cytoLocation' in genemap:
cytoloc = genemap['cytoLocation']
# parse the cytoloc. add this omim thing as a subsequence of the cytofeature
# 18p11.3-p11.2
# for now, just take the first one
# FIXME add the other end of the range, but not sure how to do that
# not sure if saying subsequence of feature is the right relationship
cytoloc = cytoloc.split('-')[0]
f = Feature(omimid, None, None)
if 'chromosome' in genemap:
chrom = makeChromID(str(genemap['chromosome']), tax_num, 'CHR')
geno.addChromosomeClass(str(genemap['chromosome']), tax_id, tax_label)
loc = makeChromID(cytoloc, tax_num, 'CHR')
gu.addClassToGraph(g, loc, cytoloc) # this is the chr band
f.addSubsequenceOfFeature(g, loc)
f.addFeatureToGraph(g)
pass
# check if moved, if so, make it deprecated and replaced/consider class to the other thing(s)
# some entries have been moved to multiple other entries and use the joining raw word "and"
# 612479 is movedto: "603075 and 603029" OR
# others use a comma-delimited list, like:
# 610402 is movedto: "609122,300870"
if e['entry']['status'] == 'moved':
if re.search('and', str(e['entry']['movedTo'])):
# split the movedTo entry on 'and'
newids = re.split('and', str(e['entry']['movedTo']))
elif len(str(e['entry']['movedTo']).split(',')) > 0:
# split on the comma
newids = str(e['entry']['movedTo']).split(',')
else:
# make a list of one
newids = [str(e['entry']['movedTo'])]
# cleanup whitespace and add OMIM prefix to numeric portion
fixedids = []
for i in newids:
fixedids.append('OMIM:'+i.strip())
gu.addDeprecatedClass(g, omimid, fixedids)
self._get_phenotypicseries_parents(e['entry'], g)
self._get_mappedids(e['entry'], g)
self._get_pubs(e['entry'], g)
self._get_process_allelic_variants(e['entry'], g)
### end iterating over batch of entries
# can't have more than 4 req per sec,
# so wait the remaining time, if necessary
dt = datetime.now() - request_time
rem = 0.25 - dt.total_seconds()
if rem > 0:
logger.info("waiting %d sec", rem)
time.sleep(rem/1000)
gu.loadAllProperties(g)
return
