def _get_variants(self, limit):
"""
Currently loops through the variant_summary file.
:param limit:
:return:
"""
if self.testMode:
g = self.testgraph
else:
g = self.graph
model = Model(g)
geno = Genotype(g)
f = Feature(g, None, None, None)
# add the taxon and the genome
tax_num = '9606' # HARDCODE
tax_id = 'NCBITaxon:'+tax_num
tax_label = 'Human'
model.addClassToGraph(tax_id, None)
geno.addGenome(tax_id, tax_label) # 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(r'^#', 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 = 29
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,
ChromosomeAccession) = 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(r'^[;,]', '', phenotype_ids)
phenotype_ids = re.sub(r'[;,]$', '', phenotype_ids)
pheno_list = re.split(r'[,;]', 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 apx location
# oddly, they still put an assembly number even when
# there's no numeric location
if not re.search(r'-', str(cytogenetic_loc)):
band_id = makeChromID(
re.split(r'-', str(cytogenetic_loc)),
tax_num, 'CHR')
geno.addChromosomeInstance(
cytogenetic_loc, build_id, assembly, band_id)
bandinbuild_id = makeChromID(
re.split(r'-', 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
# they use -1 to indicate unknown gene
if str(gene_num) != '-1' and str(gene_num) != 'more than 10':
if re.match(r'^Gene:', gene_num):
gene_num = "NCBI" + gene_num
else:
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()
f.addTaxonToFeature(tax_id)
# make the ClinVarVariant the clique leader
model.makeLeader(seqalt_id)
if bandinbuild_id is not None:
f.addSubsequenceOfFeature(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() != '':
model.addSynonym(seqalt_id, hgvs_c)
if hgvs_p != '-' and hgvs_p.strip() != '':
model.addSynonym(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)
model.addIndividualToGraph(dbsnp_id, None)
model.addSameIndividual(seqalt_id, dbsnp_id)
if dbvar_num != '-':
dbvar_id = 'dbVar:'+dbvar_num
model.addIndividualToGraph(dbvar_id, None)
model.addSameIndividual(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(r';', rcv_nums):
rcv_id = 'ClinVar:' + rcv_num
model.addIndividualToGraph(rcv_id, None)
model.addXref(seqalt_id, rcv_id)
if gene_id is not None:
# add the gene
model.addClassToGraph(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
model.addIndividualToGraph(
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(r'\(\w+\)', 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(r'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 phenotype in pheno_list:
m = re.match(
r"(Orphanet:ORPHA(?:\s*ORPHA)?)", phenotype)
if m is not None and len(m.groups()) > 0:
phenotype = re.sub(
m.group(1), 'Orphanet:', phenotype.strip())
elif re.match(r'ORPHA:\d+', phenotype):
phenotype = re.sub(
r'^ORPHA', 'Orphanet', phenotype.strip())
elif re.match(r'Human Phenotype Ontology', phenotype):
phenotype = re.sub(
r'^Human Phenotype Ontology', '',
phenotype.strip())
elif re.match(r'SNOMED CT:\s?', phenotype):
phenotype = re.sub(
r'SNOMED CT:\s?', 'SNOMED:', phenotype.strip())
elif re.match(r'^Gene:', phenotype):
continue
assoc = G2PAssoc(
g, self.name, seqalt_id, phenotype.strip())
assoc.add_association_to_graph()
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]
model.addIndividualToGraph(xrefid, None)
model.addSameIndividual(seqalt_id, xrefid)
elif prefix == 'HGMD':
model.addIndividualToGraph(xrefid, None)
model.addSameIndividual(seqalt_id, xrefid)
elif prefix == 'dbVar' \
and dbvar_num == xrefid.split(':')[1].strip():
pass # skip over this one
elif re.search(r'\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
logger.info("Finished parsing variants")
return
def _get_chrbands(self, limit, src_key, genome_id):
"""
:param limit:
:return:
"""
tax_num = src_key
if limit is None:
limit = sys.maxsize # practical limit anyway
model = Model(self.graph)
line_num = 0
myfile = '/'.join((self.rawdir, self.files[src_key]['file']))
LOG.info("Processing Chr bands from FILE: %s", myfile)
geno = Genotype(self.graph)
monochrom = Monochrom(self.graph_type, self.are_bnodes_skized)
# 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[src_key]['genome_label']
taxon_curie = 'NCBITaxon:' + tax_num
species_name = self.globaltcid[taxon_curie] # for logging
# add the taxon as a class. adding the class label elsewhere
model.addClassToGraph(taxon_curie, None)
model.addSynonym(taxon_curie, genome_label)
geno.addGenome(taxon_curie, genome_label, genome_id)
# add the build and the taxon it's in
build_num = self.files[src_key]['build_num']
build_id = 'UCSC:' + build_num
geno.addReferenceGenome(build_id, build_num, taxon_curie)
# cat (at least) also has chr[BDAECF]... hex? must be a back cat.
if tax_num == self.localtt['Felis catus']:
placed_scaffold_regex = re.compile(
r'(chr(?:[BDAECF]\d+|X|Y|Z|W|M|))$')
else:
placed_scaffold_regex = re.compile(r'(chr(?:\d+|X|Y|Z|W|M))$')
unlocalized_scaffold_regex = re.compile(r'_(\w+)_random')
unplaced_scaffold_regex = re.compile(r'chr(Un(?:_\w+)?)')
# process the bands
col = self.files[src_key]['columns']
with gzip.open(myfile, 'rb') as binreader:
for line in binreader:
line_num += 1
# skip comments
line = line.decode().strip()
if line[0] == '#' or line_num > limit:
continue
# chr13 4500000 10000000 p12 stalk
row = line.split('\t')
scaffold = row[col.index('chrom')].strip()
start = row[col.index('chromStart')]
stop = row[col.index('chromEnd')]
band_num = row[col.index('name')].strip()
rtype = row[col.index('gieStain')]
# 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
mch = placed_scaffold_regex.match(scaffold)
if mch is not None and len(mch.groups()) == 1:
# the chromosome is the first match of the pattern
chrom_num = mch.group(1)
else:
# skip over anything that isn't a placed_scaffold at the class level
# LOG.info("Found non-placed chromosome %s", scaffold)
chrom_num = None
m_chr_unloc = unlocalized_scaffold_regex.match(scaffold)
m_chr_unplaced = unplaced_scaffold_regex.match(scaffold)
scaffold_num = None
if mch:
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:
# LOG.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, tax_num, 'CHR')
# first, add the chromosome class (in the taxon)
geno.addChromosomeClass(
chrom_num, taxon_curie,
self.files[src_key]['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': self.globaltt['chromosome']
}
elif 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': self.globaltt['assembly_component'],
'synonym': scaffold
}
else:
LOG.info('%s line %i DROPPED chromosome/scaffold %s',
species_name, line_num, scaffold)
parents = list()
# see it new types have showed up
if rtype is not None and rtype not in [
'gneg', 'gpos25', 'gpos33', 'gpos50', 'gpos66',
'gpos75', 'gpos100', 'acen', 'gvar', 'stalk'
]:
LOG.info('Unknown gieStain type "%s" in %s at %i', rtype,
src_key, line_num)
self.globaltt[rtype] # blow up
if rtype == 'acen': # hacky, revisit if ontology improves
rtype = self.localtt[rtype]
if band_num is not None and band_num != '' and \
rtype is not None and rtype != '':
# add the specific band
mybands[chrom_num + band_num] = {
'min': start,
'max': stop,
'chr': chrom_num,
'ref': build_id,
'parent': None,
'stain': None,
'type': self.globaltt[rtype],
}
# add the staining intensity of the band
# 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: # band has no parents
# loop through the parents and add them to the dict
# 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], self.graph)
pnum = chrom_num + parents[i]
sta = int(start)
sto = int(stop)
if pnum is not None and pnum not in mybands.keys():
# add the parental band to the hash
bnd = {
'min': min(sta, sto),
'max': max(sta, sto),
'chr': chrom_num,
'ref': build_id,
'parent': None,
'stain': None,
'type': rti
}
mybands[pnum] = bnd
elif pnum is not None:
# band already in the hash means it's a grouping band
# need to update the min/max coords
bnd = mybands.get(pnum)
bnd['min'] = min(sta, sto, bnd['min'])
bnd['max'] = max(sta, sto, bnd['max'])
mybands[pnum] = bnd
# also, set the max for the chrom
chrom = mybands.get(chrom_num)
chrom['max'] = max(sta, sto, chrom['max'])
mybands[chrom_num] = chrom
else:
LOG.error("pnum is None")
# 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
binreader.close() # end looping through file
# loop through the hash and add the bands to the graph
for bnd in mybands.keys():
myband = mybands.get(bnd)
band_class_id = makeChromID(bnd, tax_num, 'CHR')
band_class_label = makeChromLabel(bnd, genome_label)
band_build_id = makeChromID(bnd, build_num, 'MONARCH')
band_build_label = makeChromLabel(bnd, 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'] != self.globaltt['assembly_component']:
model.addClassToGraph(band_class_id, band_class_label,
myband['type'])
bfeature = Feature(self.graph, band_build_id, band_build_label,
band_class_id)
else:
bfeature = Feature(self.graph, band_build_id, band_build_label,
myband['type'])
if 'synonym' in myband:
model.addSynonym(band_build_id, myband['synonym'])
if myband['parent'] is None:
if myband['type'] == self.globaltt['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'] == self.globaltt['assembly_component']:
# geno.addParts(band_build_id, chrom_in_build_id)
parent_chrom_in_build = makeChromID(myband['parent'],
build_num, 'MONARCH')
bfeature.addSubsequenceOfFeature(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:
bfeature.addFeatureProperty(
self.globaltt['has_sequence_attribute'], 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(False)
def _process_genes(self, limit=None):
if self.testMode:
graph = self.testgraph
else:
graph = self.graph
geno = Genotype(graph)
model = Model(graph)
raw = '/'.join((self.rawdir, self.files['genes']['file']))
line_counter = 0
logger.info("Processing HGNC genes")
with open(raw, 'r', encoding="utf8") as csvfile:
filereader = csv.reader(csvfile, delimiter='\t', quotechar='\"')
# curl -s ftp://ftp.ebi.ac.uk/pub/databases/genenames/new/tsv/hgnc_complete_set.txt | head -1 | tr '\t' '\n' | grep -n .
for row in filereader:
(hgnc_id, symbol, name, locus_group, locus_type, status,
location, location_sortable, alias_symbol, alias_name,
prev_symbol, prev_name, gene_family, gene_family_id,
date_approved_reserved, date_symbol_changed,
date_name_changed, date_modified, entrez_id, ensembl_gene_id,
vega_id, ucsc_id, ena, refseq_accession, ccds_id, uniprot_ids,
pubmed_id, mgd_id, rgd_id, lsdb, cosmic, omim_id, mirbase,
homeodb, snornabase, bioparadigms_slc, orphanet,
pseudogene_org, horde_id, merops, imgt, iuphar,
kznf_gene_catalog, mamit_trnadb, cd, lncrnadb, enzyme_id,
intermediate_filament_db, rna_central_ids) = row
line_counter += 1
# skip header
if line_counter <= 1:
continue
if self.testMode and entrez_id != '' and \
int(entrez_id) not in self.gene_ids:
continue
if name == '':
name = None
gene_type_id = self.resolve(locus_type,
False) # withdrawn -> None?
if gene_type_id != locus_type:
model.addClassToGraph(hgnc_id, symbol, gene_type_id, name)
if locus_type == 'withdrawn':
model.addDeprecatedClass(hgnc_id)
else:
model.makeLeader(hgnc_id)
if entrez_id != '':
model.addEquivalentClass(hgnc_id, 'NCBIGene:' + entrez_id)
if ensembl_gene_id != '':
model.addEquivalentClass(hgnc_id,
'ENSEMBL:' + ensembl_gene_id)
if omim_id != '' and "|" not in omim_id:
omim_curie = 'OMIM:' + omim_id
if not DipperUtil.is_omim_disease(omim_curie):
model.addEquivalentClass(hgnc_id, omim_curie)
geno.addTaxon(self.hs_txid, hgnc_id)
# add pubs as "is about"
if pubmed_id != '':
for p in re.split(r'\|', pubmed_id.strip()):
if str(p) != '':
graph.addTriple('PMID:' + str(p.strip()),
self.globaltt['is_about'], hgnc_id)
# add chr location
# sometimes two are listed, like: 10p11.2 or 17q25
# -- there are only 2 of these FRA10A and MPFD
# sometimes listed like "1 not on reference assembly"
# sometimes listed like 10q24.1-q24.3
# sometimes like 11q11 alternate reference locus
band = chrom = None
chr_pattern = r'(\d+|X|Y|Z|W|MT)[pq$]'
chr_match = re.match(chr_pattern, location)
if chr_match is not None and len(chr_match.groups()) > 0:
chrom = chr_match.group(1)
chrom_id = makeChromID(chrom, self.hs_txid, 'CHR')
band_pattern = r'([pq][A-H\d]?\d?(?:\.\d+)?)'
band_match = re.search(band_pattern, location)
feat = Feature(graph, hgnc_id, None, None)
if band_match is not None and len(band_match.groups()) > 0:
band = band_match.group(1)
band = chrom + band
# add the chr band as the parent to this gene
# as a feature but assume that the band is created
# as a class with properties elsewhere in Monochrom
band_id = makeChromID(band, self.hs_txid, 'CHR')
model.addClassToGraph(band_id, None)
feat.addSubsequenceOfFeature(band_id)
else:
model.addClassToGraph(chrom_id, None)
feat.addSubsequenceOfFeature(chrom_id)
if not self.testMode and limit is not None and line_counter > limit:
break
# end loop through file
return
def _process_genes(self, limit=None):
if self.test_mode:
graph = self.testgraph
else:
graph = self.graph
geno = Genotype(graph)
model = Model(graph)
raw = '/'.join((self.rawdir, self.files['genes']['file']))
col = self.files['genes']['columns']
LOG.info("Processing HGNC genes")
chr_pattern = re.compile(r'(\d+|X|Y|Z|W|MT)[pq$]')
band_pattern = re.compile(r'([pq][A-H\d]?\d?(?:\.\d+)?)')
with open(raw, 'r', encoding="utf8") as csvfile:
filereader = csv.reader(csvfile, delimiter='\t', quotechar='\"')
row = next(filereader)
if not self.check_fileheader(col, row):
exit(-1)
for row in filereader:
# To generate:
# head -1 hgnc_complete_set.txt.1 | tr '\t' '\n' |
# sed "s/\(.*\)/\1 = row[col.index(\'\1\')]/g"
hgnc_id = row[col.index('hgnc_id')].strip()
symbol = row[col.index('symbol')].strip()
name = row[col.index('name')].strip()
# locus_group = row[col.index('locus_group')]
locus_type = row[col.index('locus_type')].strip()
# status = row[col.index('status')]
location = row[col.index('location')].strip()
# location_sortable = row[col.index('location_sortable')]
# alias_symbol = row[col.index('alias_symbol')]
# alias_name = row[col.index('alias_name')]
# prev_symbol = row[col.index('prev_symbol')]
# prev_name = row[col.index('prev_name')]
# gene_family = row[col.index('gene_family')]
# gene_family_id = row[col.index('gene_family_id')]
# date_approved_reserved = row[col.index('date_approved_reserved')]
# date_symbol_changed = row[col.index('date_symbol_changed')]
# date_name_changed = row[col.index('date_name_changed')]
# date_modified = row[col.index('date_modified')]
entrez_id = row[col.index('entrez_id')].strip()
ensembl_gene_id = row[col.index('ensembl_gene_id')].strip()
# vega_id = row[col.index('vega_id')]
# ucsc_id = row[col.index('ucsc_id')]
# ena = row[col.index('ena')]
# refseq_accession = row[col.index('refseq_accession')]
# ccds_id = row[col.index('ccds_id')]
# uniprot_ids = row[col.index('uniprot_ids')]
pubmed_ids = row[col.index('pubmed_id')].strip() # pipe seperated!
# mgd_id = row[col.index('mgd_id')]
# rgd_id = row[col.index('rgd_id')]
# lsdb = row[col.index('lsdb')]
# cosmic = row[col.index('cosmic')]
omim_ids = row[col.index('omim_id')].strip() # pipe seperated!
# mirbase = row[col.index('mirbase')]
# homeodb = row[col.index('homeodb')]
# snornabase = row[col.index('snornabase')]
# bioparadigms_slc = row[col.index('bioparadigms_slc')]
# orphanet = row[col.index('orphanet')]
# pseudogene.org = row[col.index('pseudogene.org')]
# horde_id = row[col.index('horde_id')]
# merops = row[col.index('merops')]
# imgt = row[col.index('imgt')]
# iuphar = row[col.index('iuphar')]
# kznf_gene_catalog = row[col.index('kznf_gene_catalog')]
# mamit_trnadb = row[col.index('mamit-trnadb')]
# cd = row[col.index('cd')]
# lncrnadb = row[col.index('lncrnadb')]
# enzyme_id = row[col.index('enzyme_id')]
# intermediate_filament_db = row[col.index('intermediate_filament_db')]
# rna_central_ids = row[col.index('rna_central_ids')]
# lncipedia = row[col.index('lncipedia')]
# gtrnadb = row[col.index('gtrnadb')]
if self.test_mode and entrez_id != '' and \
entrez_id not in self.gene_ids:
continue
if name == '':
name = None
if locus_type == 'withdrawn':
model.addDeprecatedClass(hgnc_id)
else:
gene_type_id = self.resolve(locus_type, False) # withdrawn -> None?
if gene_type_id != locus_type:
model.addClassToGraph(hgnc_id, symbol, gene_type_id, name)
model.makeLeader(hgnc_id)
if entrez_id != '':
model.addEquivalentClass(hgnc_id, 'NCBIGene:' + entrez_id)
if ensembl_gene_id != '':
model.addEquivalentClass(hgnc_id, 'ENSEMBL:' + ensembl_gene_id)
for omim_id in omim_ids.split('|'):
if omim_id in self.omim_replaced:
repl = self.omim_replaced[omim_id]
LOG.warning('%s is replaced with %s', omim_id, repl)
for omim in repl:
if self.omim_type[omim] == self.globaltt['gene']:
omim_id = omim
if omim_id in self.omim_type and \
self.omim_type[omim_id] == self.globaltt['gene']:
model.addEquivalentClass(hgnc_id, 'OMIM:' + omim_id)
geno.addTaxon(self.hs_txid, hgnc_id)
# add pubs as "is about"
for pubmed_id in pubmed_ids.split('|'):
graph.addTriple(
'PMID:' + pubmed_id, self.globaltt['is_about'], hgnc_id)
# add chr location
# sometimes two are listed, like: 10p11.2 or 17q25
# -- there are only 2 of these FRA10A and MPFD
# sometimes listed like "1 not on reference assembly"
# sometimes listed like 10q24.1-q24.3
# sometimes like 11q11 alternate reference locus
band = chrom = None
chr_match = chr_pattern.match(location)
if chr_match is not None and len(chr_match.groups()) > 0:
chrom = chr_match.group(1)
chrom_id = makeChromID(chrom, self.hs_txid, 'CHR')
band_match = band_pattern.search(location)
feat = Feature(graph, hgnc_id, None, None)
if band_match is not None and len(band_match.groups()) > 0:
band = band_match.group(1)
band = chrom + band
# add the chr band as the parent to this gene
# as a feature but assume that the band is created
# as a class with properties elsewhere in Monochrom
band_id = makeChromID(band, self.hs_txid, 'CHR')
model.addClassToGraph(band_id, None)
feat.addSubsequenceOfFeature(band_id)
else:
model.addClassToGraph(chrom_id, None)
feat.addSubsequenceOfFeature(chrom_id)
if not self.test_mode and limit is not None and \
filereader.line_num > limit:
break
def _get_variants(self, limit):
"""
Currently loops through the variant_summary file.
:param limit:
:return:
"""
if self.testMode:
g = self.testgraph
else:
g = self.graph
model = Model(g)
geno = Genotype(g)
f = Feature(g, None, None, None)
# add the taxon and the genome
tax_num = '9606' # HARDCODE
tax_id = 'NCBITaxon:' + tax_num
tax_label = 'Human'
model.addClassToGraph(tax_id, None)
geno.addGenome(tax_id, tax_label) # 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(r'^#', 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 = 29
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,
ChromosomeAccession) = 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(r'^[;,]', '', phenotype_ids)
phenotype_ids = re.sub(r'[;,]$', '', phenotype_ids)
pheno_list = re.split(r'[,;]', 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 apx location
# oddly, they still put an assembly number even when
# there's no numeric location
if not re.search(r'-', str(cytogenetic_loc)):
band_id = makeChromID(
re.split(r'-', str(cytogenetic_loc)), tax_num,
'CHR')
geno.addChromosomeInstance(cytogenetic_loc,
build_id, assembly,
band_id)
bandinbuild_id = makeChromID(
re.split(r'-', 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
# they use -1 to indicate unknown gene
if str(gene_num) != '-1' and str(gene_num) != 'more than 10':
if re.match(r'^Gene:', gene_num):
gene_num = "NCBI" + gene_num
else:
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()
f.addTaxonToFeature(tax_id)
# make the ClinVarVariant the clique leader
model.makeLeader(seqalt_id)
if bandinbuild_id is not None:
f.addSubsequenceOfFeature(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() != '':
model.addSynonym(seqalt_id, hgvs_c)
if hgvs_p != '-' and hgvs_p.strip() != '':
model.addSynonym(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)
model.addIndividualToGraph(dbsnp_id, None)
model.addSameIndividual(seqalt_id, dbsnp_id)
if dbvar_num != '-':
dbvar_id = 'dbVar:' + dbvar_num
model.addIndividualToGraph(dbvar_id, None)
model.addSameIndividual(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(r';', rcv_nums):
rcv_id = 'ClinVar:' + rcv_num
model.addIndividualToGraph(rcv_id, None)
model.addXref(seqalt_id, rcv_id)
if gene_id is not None:
# add the gene
model.addClassToGraph(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
model.addIndividualToGraph(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(r'\(\w+\)', 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(r'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 phenotype in pheno_list:
m = re.match(r"(Orphanet:ORPHA(?:\s*ORPHA)?)",
phenotype)
if m is not None and len(m.groups()) > 0:
phenotype = re.sub(m.group(1), 'Orphanet:',
phenotype.strip())
elif re.match(r'ORPHA:\d+', phenotype):
phenotype = re.sub(r'^ORPHA', 'Orphanet',
phenotype.strip())
elif re.match(r'Human Phenotype Ontology', phenotype):
phenotype = re.sub(r'^Human Phenotype Ontology',
'', phenotype.strip())
elif re.match(r'SNOMED CT:\s?', phenotype):
phenotype = re.sub(r'SNOMED CT:\s?', 'SNOMED:',
phenotype.strip())
elif re.match(r'^Gene:', phenotype):
continue
assoc = G2PAssoc(g, self.name, seqalt_id,
phenotype.strip())
assoc.add_association_to_graph()
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]
model.addIndividualToGraph(xrefid, None)
model.addSameIndividual(seqalt_id, xrefid)
elif prefix == 'HGMD':
model.addIndividualToGraph(xrefid, None)
model.addSameIndividual(seqalt_id, xrefid)
elif prefix == 'dbVar' \
and dbvar_num == xrefid.split(':')[1].strip():
pass # skip over this one
elif re.search(r'\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
logger.info("Finished parsing variants")
return
def _get_chrbands(self, limit, taxon):
"""
:param limit:
:return:
"""
model = Model(self.graph)
# 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(self.graph_type, self.are_bnodes_skized)
# 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
model.addClassToGraph(taxon_id, None)
model.addSynonym(taxon_id, genome_label)
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']:
model.addClassToGraph(band_class_id,
band_class_label, myband['type'])
bfeature = Feature(self.graph, band_build_id, band_build_label,
band_class_id)
else:
bfeature = Feature(self.graph, band_build_id, band_build_label,
myband['type'])
if 'synonym' in myband:
model.addSynonym(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(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 'has_staining_intensity' being dropped by MB
bfeature.addFeatureProperty(
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(False)
return
def _transform_entry(self, e, graph):
g = graph
model = Model(g)
geno = Genotype(graph)
tax_num = '9606'
tax_id = 'NCBITaxon:9606'
tax_label = 'Human'
build_num = "GRCh38"
build_id = "NCBIGenome:"+build_num
# 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(r';', label)) > 1:
abbrev = (re.split(r';', label)[1].strip())
newlabel = self._cleanup_label(label)
description = self._get_description(e['entry'])
omimid = 'OMIM:'+str(omimnum)
if e['entry']['status'] == 'removed':
model.addDeprecatedClass(omimid)
else:
omimtype = self._get_omimtype(e['entry'])
nodelabel = newlabel
# this uses our cleaned-up label
if omimtype == Genotype.genoparts['heritable_phenotypic_marker']:
if abbrev is not None:
nodelabel = abbrev
# in this special case,
# make it a disease by not declaring it as a gene/marker
model.addClassToGraph(omimid, nodelabel, None, newlabel)
elif omimtype == Genotype.genoparts['gene']:
if abbrev is not None:
nodelabel = abbrev
model.addClassToGraph(omimid, nodelabel, omimtype, newlabel)
else:
model.addClassToGraph(omimid, newlabel, omimtype)
# add the original screaming-caps OMIM label as a synonym
model.addSynonym(omimid, label)
# add the alternate labels and includes as synonyms
for l in other_labels:
model.addSynonym(omimid, l, 'OIO:hasRelatedSynonym')
# for OMIM, we're adding the description as a definition
model.addDefinition(omimid, description)
if abbrev is not None:
model.addSynonym(omimid, abbrev, 'OIO:hasRelatedSynonym')
# if this is a genetic locus (but not sequenced)
# then add the chrom loc info
# but add it to the ncbi gene identifier,
# not to the omim id (we reserve the omim id to be the phenotype)
feature_id = None
feature_label = None
if 'geneMapExists' in e['entry'] and e['entry']['geneMapExists']:
genemap = e['entry']['geneMap']
is_gene = False
if omimtype == \
Genotype.genoparts['heritable_phenotypic_marker']:
# get the ncbigene ids
ncbifeature = self._get_mapped_gene_ids(e['entry'], g)
if len(ncbifeature) == 1:
feature_id = 'NCBIGene:'+str(ncbifeature[0])
# add this feature as a cause for the omim disease
# TODO SHOULD I EVEN DO THIS HERE?
assoc = G2PAssoc(g, self.name, feature_id, omimid)
assoc.add_association_to_graph()
elif len(ncbifeature) > 1:
logger.info(
"Its ambiguous when %s maps to >1 gene id: %s",
omimid, str(ncbifeature))
else: # no ncbi feature, make an anonymous one
feature_id = self._make_anonymous_feature(str(omimnum))
feature_label = abbrev
elif omimtype == Genotype.genoparts['gene']:
feature_id = omimid
is_gene = True
else:
# 158900 falls into this category
feature_id = self._make_anonymous_feature(str(omimnum))
if abbrev is not None:
feature_label = abbrev
omimtype = \
Genotype.genoparts[
'heritable_phenotypic_marker']
if feature_id is not None:
if 'comments' in genemap:
# add a comment to this feature
comment = genemap['comments']
if comment.strip() != '':
model.addDescription(feature_id, comment)
if 'cytoLocation' in genemap:
cytoloc = genemap['cytoLocation']
# parse the cytoloc.
# add this omim thing as
# a subsequence of the cytofeature
# 18p11.3-p11.2
# 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
f = Feature(g, feature_id, feature_label, omimtype)
if 'chromosomeSymbol' in genemap:
chrom_num = str(genemap['chromosomeSymbol'])
chrom = makeChromID(chrom_num, tax_num, 'CHR')
geno.addChromosomeClass(
chrom_num, tax_id, tax_label)
# add the positional information, if available
fstart = fend = -1
if 'chromosomeLocationStart' in genemap:
fstart = genemap['chromosomeLocationStart']
if 'chromosomeLocationEnd' in genemap:
fend = genemap['chromosomeLocationEnd']
if fstart >= 0:
# make the build-specific chromosome
chrom_in_build = makeChromID(chrom_num,
build_num,
'MONARCH')
# then, add the chromosome instance
# (from the given build)
geno.addChromosomeInstance(
chrom_num, build_id, build_num, chrom)
if omimtype == \
Genotype.genoparts[
'heritable_phenotypic_marker']:
postypes = [Feature.types['FuzzyPosition']]
else:
postypes = None
# NOTE that no strand information
# is available in the API
f.addFeatureStartLocation(
fstart, chrom_in_build, None, postypes)
if fend >= 0:
f.addFeatureEndLocation(
fend, chrom_in_build, None, postypes)
if fstart > fend:
logger.info(
"start>end (%d>%d) for %s",
fstart, fend, omimid)
# add the cytogenic location too
# for now, just take the first one
cytoloc = cytoloc.split('-')[0]
loc = makeChromID(cytoloc, tax_num, 'CHR')
model.addClassToGraph(loc, None)
f.addSubsequenceOfFeature(loc)
f.addFeatureToGraph(True, None, is_gene)
# end adding causative genes/features
# 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(r'and', str(e['entry']['movedTo'])):
# split the movedTo entry on 'and'
newids = re.split(r'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())
model.addDeprecatedClass(omimid, fixedids)
self._get_phenotypicseries_parents(e['entry'], g)
self._get_mappedids(e['entry'], g)
self._get_mapped_gene_ids(e['entry'], g)
self._get_pubs(e['entry'], g)
self._get_process_allelic_variants(e['entry'], g) # temp gag
return
def _transform_entry(self, ent, graph):
self.graph = graph
model = Model(graph)
geno = Genotype(graph)
tax_label = 'H**o sapiens'
tax_id = self.globaltt[tax_label]
build_num = "GRCh38"
asm_curie = ':'.join(('NCBIAssembly', build_num))
# get the numbers, labels, and descriptions
omim_num = str(ent['entry']['mimNumber'])
titles = ent['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'])
# remove the abbreviation (comes after the ;) from the preferredTitle,
abbrev = None
lab_lst = label.split(';')
if len(lab_lst) > 1:
abbrev = lab_lst[1].strip()
newlabel = self._cleanup_label(label)
omim_curie = 'OMIM:' + omim_num
omimtype = self.omim_type[omim_num]
nodelabel = newlabel
# this uses our cleaned-up label
if omimtype == self.globaltt['heritable_phenotypic_marker']:
if abbrev is not None:
nodelabel = abbrev
# in this special case,
# make it a disease by not declaring it as a gene/marker
# ??? and if abbrev is None?
model.addClassToGraph(omim_curie, nodelabel, description=newlabel)
# class_type=self.globaltt['disease or disorder'],
elif omimtype in [
self.globaltt['gene'], self.globaltt['has_affected_feature']
]:
omimtype = self.globaltt['gene']
if abbrev is not None:
nodelabel = abbrev
# omim is subclass_of gene (provide type term)
model.addClassToGraph(omim_curie, nodelabel, self.globaltt['gene'],
newlabel)
else:
# omim is NOT subclass_of D|P|or ?...
model.addClassToGraph(omim_curie, newlabel)
# KS: commenting out, we will get disease descriptions
# from MONDO, and gene descriptions from the mygene API
# if this is a genetic locus (not sequenced) then
# add the chrom loc info to the ncbi gene identifier,
# not to the omim id (we reserve the omim id to be the phenotype)
#################################################################
# the above makes no sense to me. (TEC)
# For Monarch, OMIM is authoritative for disease / phenotype
# if they say a phenotype is associated with a locus
# that is what dipper should report.
# OMIM is not authoritative for NCBI gene locations, locus or otherwise.
# and dipper should not be reporting gene locations via OMIM.
feature_id = None
feature_label = None
if 'geneMapExists' in ent['entry'] and ent['entry']['geneMapExists']:
genemap = ent['entry']['geneMap']
is_gene = False
if omimtype == self.globaltt['heritable_phenotypic_marker']:
# get the ncbigene ids
ncbifeature = self._get_mapped_gene_ids(ent['entry'], graph)
if len(ncbifeature) == 1:
feature_id = 'NCBIGene:' + str(ncbifeature[0])
# add this feature as a cause for the omim disease
# TODO SHOULD I EVEN DO THIS HERE?
assoc = G2PAssoc(graph, self.name, feature_id, omim_curie)
assoc.add_association_to_graph()
else:
LOG.info(
"Its ambiguous when %s maps to not one gene id: %s",
omim_curie, str(ncbifeature))
elif omimtype in [
self.globaltt['gene'],
self.globaltt['has_affected_feature']
]:
feature_id = omim_curie
is_gene = True
omimtype = self.globaltt['gene']
else:
# 158900 falls into this category
feature_id = self._make_anonymous_feature(omim_num)
if abbrev is not None:
feature_label = abbrev
omimtype = self.globaltt['heritable_phenotypic_marker']
if feature_id is not None:
if 'comments' in genemap:
# add a comment to this feature
comment = genemap['comments']
if comment.strip() != '':
model.addDescription(feature_id, comment)
if 'cytoLocation' in genemap:
cytoloc = genemap['cytoLocation']
# parse the cytoloc.
# add this omim thing as
# a subsequence of the cytofeature
# 18p11.3-p11.2
# 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
feat = Feature(graph, feature_id, feature_label, omimtype)
if 'chromosomeSymbol' in genemap:
chrom_num = str(genemap['chromosomeSymbol'])
chrom = makeChromID(chrom_num, tax_id, 'CHR')
geno.addChromosomeClass(chrom_num,
self.globaltt['H**o sapiens'],
tax_label)
# add the positional information, if available
fstart = fend = -1
if 'chromosomeLocationStart' in genemap:
fstart = genemap['chromosomeLocationStart']
if 'chromosomeLocationEnd' in genemap:
fend = genemap['chromosomeLocationEnd']
if fstart >= 0:
# make the build-specific chromosome
chrom_in_build = makeChromID(
chrom_num, build_num, 'MONARCH')
# then, add the chromosome instance
# (from the given build)
geno.addChromosomeInstance(chrom_num, asm_curie,
build_num, chrom)
if omimtype == self.globaltt[
'heritable_phenotypic_marker']:
postypes = [self.globaltt['FuzzyPosition']]
else:
postypes = None
# NOTE that no strand information
# is available in the API
feat.addFeatureStartLocation(
fstart, chrom_in_build, None, postypes)
if fend >= 0:
feat.addFeatureEndLocation(
fend, chrom_in_build, None, postypes)
if fstart > fend:
LOG.info("start>end (%d>%d) for %s", fstart,
fend, omim_curie)
# add the cytogenic location too
# for now, just take the first one
cytoloc = cytoloc.split('-')[0]
loc = makeChromID(cytoloc, tax_id, 'CHR')
model.addClassToGraph(loc, None)
feat.addSubsequenceOfFeature(loc)
feat.addFeatureToGraph(True, None, is_gene)
# end adding causative genes/features
if ent['entry']['status'] in ['moved', 'removed']:
LOG.warning('UNEXPECTED! not expecting obsolete record %s',
omim_curie)
self._get_phenotypicseries_parents(ent['entry'], graph)
self._get_mappedids(ent['entry'], graph)
self._get_mapped_gene_ids(ent['entry'], graph)
self._get_pubs(ent['entry'], graph)
self._get_process_allelic_variants(ent['entry'], graph)
def _process_genes(self, limit=None):
if self.test_mode:
graph = self.testgraph
else:
graph = self.graph
geno = Genotype(graph)
model = Model(graph)
raw = '/'.join((self.rawdir, self.files['genes']['file']))
col = self.files['genes']['columns']
LOG.info("Processing HGNC genes")
chr_pattern = re.compile(r'(\d+|X|Y|Z|W|MT)[pq$]')
band_pattern = re.compile(r'([pq][A-H\d]?\d?(?:\.\d+)?)')
with open(raw, 'r', encoding="utf8") as csvfile:
filereader = csv.reader(csvfile, delimiter='\t', quotechar='\"')
row = next(filereader)
if not self.check_fileheader(col, row):
pass
for row in filereader:
# To generate:
# head -1 hgnc_complete_set.txt.1 | tr '\t' '\n' |
# sed "s/\(.*\)/\1 = row[col.index(\'\1\')]/g"
hgnc_id = row[col.index('hgnc_id')].strip()
symbol = row[col.index('symbol')].strip()
name = row[col.index('name')].strip()
# locus_group = row[col.index('locus_group')]
locus_type = row[col.index('locus_type')].strip()
# status = row[col.index('status')]
location = row[col.index('location')].strip()
# location_sortable = row[col.index('location_sortable')]
# alias_symbol = row[col.index('alias_symbol')]
# alias_name = row[col.index('alias_name')]
# prev_symbol = row[col.index('prev_symbol')]
# prev_name = row[col.index('prev_name')]
# gene_family = row[col.index('gene_family')]
# gene_family_id = row[col.index('gene_family_id')]
# date_approved_reserved = row[col.index('date_approved_reserved')]
# date_symbol_changed = row[col.index('date_symbol_changed')]
# date_name_changed = row[col.index('date_name_changed')]
# date_modified = row[col.index('date_modified')]
entrez_id = row[col.index('entrez_id')].strip()
ensembl_gene_id = row[col.index('ensembl_gene_id')].strip()
# vega_id = row[col.index('vega_id')]
# ucsc_id = row[col.index('ucsc_id')]
# ena = row[col.index('ena')]
# refseq_accession = row[col.index('refseq_accession')]
# ccds_id = row[col.index('ccds_id')]
# uniprot_ids = row[col.index('uniprot_ids')]
pubmed_ids = row[col.index(
'pubmed_id')].strip() # pipe separated!
# mgd_id = row[col.index('mgd_id')]
# rgd_id = row[col.index('rgd_id')]
# lsdb = row[col.index('lsdb')]
# cosmic = row[col.index('cosmic')]
omim_ids = row[col.index('omim_id')].strip() # pipe separated!
# mirbase = row[col.index('mirbase')]
# homeodb = row[col.index('homeodb')]
# snornabase = row[col.index('snornabase')]
# bioparadigms_slc = row[col.index('bioparadigms_slc')]
# orphanet = row[col.index('orphanet')]
# pseudogene.org = row[col.index('pseudogene.org')]
# horde_id = row[col.index('horde_id')]
# merops = row[col.index('merops')]
# imgt = row[col.index('imgt')]
# iuphar = row[col.index('iuphar')]
# kznf_gene_catalog = row[col.index('kznf_gene_catalog')]
# mamit_trnadb = row[col.index('mamit-trnadb')]
# cd = row[col.index('cd')]
# lncrnadb = row[col.index('lncrnadb')]
# enzyme_id = row[col.index('enzyme_id')]
# intermediate_filament_db = row[col.index('intermediate_filament_db')]
# rna_central_ids = row[col.index('rna_central_ids')]
# lncipedia = row[col.index('lncipedia')]
# gtrnadb = row[col.index('gtrnadb')]
if self.test_mode and entrez_id != '' and \
entrez_id not in self.gene_ids:
continue
if name == '':
name = None
if locus_type == 'withdrawn':
model.addDeprecatedClass(hgnc_id)
elif symbol[
-1] == '@': # 10) region (HOX), RNA cluster, gene (PCDH)
continue
else:
gene_type_id = self.resolve(locus_type, mandatory=False)
if gene_type_id != locus_type:
model.addClassToGraph(hgnc_id, symbol, gene_type_id,
name)
model.makeLeader(hgnc_id)
if entrez_id != '':
model.addEquivalentClass(hgnc_id, 'NCBIGene:' + entrez_id)
if ensembl_gene_id != '':
model.addEquivalentClass(hgnc_id,
'ENSEMBL:' + ensembl_gene_id)
for omim_id in omim_ids.split('|'):
if omim_id in self.omim_replaced:
repl = self.omim_replaced[omim_id]
LOG.warning('%s is replaced with %s', omim_id, repl)
for omim in repl:
if self.omim_type[omim] == self.globaltt['gene']:
omim_id = omim
if omim_id in self.omim_type and \
self.omim_type[omim_id] == self.globaltt['gene']:
model.addEquivalentClass(hgnc_id, 'OMIM:' + omim_id)
geno.addTaxon(self.hs_txid, hgnc_id)
# add pubs as "is about"
for pubmed_id in pubmed_ids.split('|'):
graph.addTriple('PMID:' + pubmed_id,
self.globaltt['is_about'], hgnc_id)
# add chr location
# sometimes two are listed, like: 10p11.2 or 17q25
# -- there are only 2 of these FRA10A and MPFD
# sometimes listed like "1 not on reference assembly"
# sometimes listed like 10q24.1-q24.3
# sometimes like 11q11 alternate reference locus
band = chrom = None
chr_match = chr_pattern.match(location)
if chr_match is not None and chr_match.groups():
chrom = chr_match.group(1)
chrom_id = makeChromID(chrom, self.hs_txid, 'CHR')
band_match = band_pattern.search(location)
feat = Feature(graph, hgnc_id, None, None)
if band_match is not None and band_match.groups():
band = band_match.group(1)
band = chrom + band
# add the chr band as the parent to this gene
# as a feature but assume that the band is created
# as a class with properties elsewhere in Monochrom
band_id = makeChromID(band, self.hs_txid, 'CHR')
model.addClassToGraph(band_id, None)
feat.addSubsequenceOfFeature(band_id)
else:
model.addClassToGraph(chrom_id, None)
feat.addSubsequenceOfFeature(chrom_id)
if not self.test_mode and limit is not None and \
filereader.line_num > limit:
break
def _get_chrbands(self, limit, taxon):
"""
:param limit:
:return:
"""
model = Model(self.graph)
# 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(self.graph_type, self.are_bnodes_skized)
# 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
model.addClassToGraph(taxon_id, None)
model.addSynonym(taxon_id, genome_label)
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+)?)'
mch = re.match(placed_scaffold_pattern + r'$', scaffold)
if mch is not None and len(mch.groups()) == 1:
# the chromosome is the first match of the pattern
chrom_num = mch.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 mch:
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': self.globaltt['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': self.globaltt['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'] = self.resolve(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
bnd = {
'min': min(sta, sto),
'max': max(sta, sto),
'chr': chrom_num,
'ref': build_id,
'parent': None,
'stain': None,
'type': rti
}
mybands[pnum] = bnd
else:
# band already in the hash means it's a grouping band
# need to update the min/max coords
bnd = mybands.get(pnum)
bnd['min'] = min(sta, sto, bnd['min'])
bnd['max'] = max(sta, sto, bnd['max'])
mybands[pnum] = bnd
# also, set the max for the chrom
chrom = mybands.get(chrom_num)
chrom['max'] = max(sta, sto, chrom['max'])
mybands[chrom_num] = chrom
# 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 bnd in mybands.keys():
myband = mybands.get(bnd)
band_class_id = makeChromID(bnd, taxon, 'CHR')
band_class_label = makeChromLabel(bnd, genome_label)
band_build_id = makeChromID(bnd, build_num, 'MONARCH')
band_build_label = makeChromLabel(bnd, 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'] != self.globaltt['assembly_component']:
model.addClassToGraph(band_class_id, band_class_label,
myband['type'])
bfeature = Feature(self.graph, band_build_id, band_build_label,
band_class_id)
else:
bfeature = Feature(self.graph, band_build_id, band_build_label,
myband['type'])
if 'synonym' in myband:
model.addSynonym(band_build_id, myband['synonym'])
if myband['parent'] is None:
if myband['type'] == self.globaltt['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'] == self.globaltt['assembly_component']:
# geno.addParts(band_build_id, chrom_in_build_id)
parent_chrom_in_build = makeChromID(myband['parent'],
build_num, 'MONARCH')
bfeature.addSubsequenceOfFeature(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:
bfeature.addFeatureProperty(
self.globaltt['has_sequence_attribute'], 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(False)
return
def _process_genes(self, limit=None):
if self.testMode:
g = self.testgraph
else:
g = self.graph
geno = Genotype(g)
model = Model(g)
raw = '/'.join((self.rawdir, self.files['genes']['file']))
line_counter = 0
logger.info("Processing HGNC genes")
with open(raw, 'r', encoding="utf8") as csvfile:
filereader = csv.reader(csvfile, delimiter='\t', quotechar='\"')
# curl -s ftp://ftp.ebi.ac.uk/pub/databases/genenames/new/tsv/hgnc_complete_set.txt | head -1 | tr '\t' '\n' | grep -n .
for row in filereader:
(hgnc_id,
symbol,
name,
locus_group,
locus_type,
status,
location,
location_sortable,
alias_symbol,
alias_name,
prev_symbol,
prev_name,
gene_family,
gene_family_id,
date_approved_reserved,
date_symbol_changed,
date_name_changed,
date_modified,
entrez_id,
ensembl_gene_id,
vega_id,
ucsc_id,
ena,
refseq_accession,
ccds_id,
uniprot_ids,
pubmed_id,
mgd_id,
rgd_id,
lsdb,
cosmic,
omim_id,
mirbase,
homeodb,
snornabase,
bioparadigms_slc,
orphanet,
pseudogene_org,
horde_id,
merops,
imgt,
iuphar,
kznf_gene_catalog,
mamit_trnadb,
cd,
lncrnadb,
enzyme_id,
intermediate_filament_db,
rna_central_ids) = row
line_counter += 1
# skip header
if line_counter <= 1:
continue
if self.testMode and entrez_id != '' \
and int(entrez_id) not in self.gene_ids:
continue
if name == '':
name = None
gene_type_id = self._get_gene_type(locus_type)
model.addClassToGraph(hgnc_id, symbol, gene_type_id, name)
if locus_type == 'withdrawn':
model.addDeprecatedClass(hgnc_id)
else:
model.makeLeader(hgnc_id)
if entrez_id != '':
model.addEquivalentClass(
hgnc_id, 'NCBIGene:' + entrez_id)
if ensembl_gene_id != '':
model.addEquivalentClass(
hgnc_id, 'ENSEMBL:' + ensembl_gene_id)
if omim_id != '' and "|" not in omim_id:
omim_curie = 'OMIM:' + omim_id
if not DipperUtil.is_omim_disease(omim_curie):
model.addEquivalentClass(hgnc_id, omim_curie)
geno.addTaxon('NCBITaxon:9606', hgnc_id)
# add pubs as "is about"
if pubmed_id != '':
for p in re.split(r'\|', pubmed_id.strip()):
if str(p) != '':
g.addTriple(
'PMID:' + str(p.strip()),
model.object_properties['is_about'], hgnc_id)
# add chr location
# sometimes two are listed, like: 10p11.2 or 17q25
# -- there are only 2 of these FRA10A and MPFD
# sometimes listed like "1 not on reference assembly"
# sometimes listed like 10q24.1-q24.3
# sometimes like 11q11 alternate reference locus
band = chrom = None
chr_pattern = r'(\d+|X|Y|Z|W|MT)[pq$]'
chr_match = re.match(chr_pattern, location)
if chr_match is not None and len(chr_match.groups()) > 0:
chrom = chr_match.group(1)
chrom_id = makeChromID(chrom, 'NCBITaxon:9606', 'CHR')
band_pattern = r'([pq][A-H\d]?\d?(?:\.\d+)?)'
band_match = re.search(band_pattern, location)
f = Feature(g, hgnc_id, None, None)
if band_match is not None and len(band_match.groups()) > 0:
band = band_match.group(1)
band = chrom + band
# add the chr band as the parent to this gene
# as a feature but assume that the band is created
# as a class with properties elsewhere in Monochrom
# TEC Monoch? Monarchdom??
band_id = makeChromID(band, 'NCBITaxon:9606', 'CHR')
model.addClassToGraph(band_id, None)
f.addSubsequenceOfFeature(band_id)
else:
model.addClassToGraph(chrom_id, None)
f.addSubsequenceOfFeature(chrom_id)
if not self.testMode \
and limit is not None and line_counter > limit:
break
# end loop through file
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
