def check_concordancies(self, data_list, assays, chipval):
hwe_values = [0.0] * len(data_list)
maf_values = [0.0] * len(data_list)
obs = [0.0] * 3
exp = [0.0] * 3
allele_ref_1 = ""
allele_alt_1 = ""
allele_ref_2 = ""
allele_alt_2 = ""
#print "CHECK_CONC:", len(data_list)
for i, vcf_record in enumerate(data_list):
if len(vcf_record) > 0:
vcfr = VCFrecord(vcf_record)
probidx = vcfr.get_probidx()
homref_count, het_count, homalt_count, nc_count, miss_count = self.vcfr.get_allele_counts_from_array(
data)
allele_a, allele_b = vcfr.get_alleles()
if allele_ref_1 == "":
allele_ref_1 = allele_a
allele_alt_1 = allele_b
# Add 1 to prevent 0-divide
obs[0] = homref_count + 1
obs[1] = het_count + 1
obs[2] = homalt_count + 1
else:
allele_ref_2 = allele_a
allele_alt_2 = allele_b
exp[0] = homref_count + 1
exp[1] = het_count + 1
exp[2] = homalt_count + 1
if (allele_ref_1 != allele_ref_2) or (allele_alt_1 !=
allele_alt_2):
varid = vcfr.get_varid(data)
posn = vcfr.get_posn(data)
self.allele_discord_count += 1
logging.info(
"Allele discordancy: assay1=%s, assay2=%s, varid=%s, posn=%d, ref1=%s, alt1=%s, ref2=%s, alt2=%s",
assays[0], assays[i], varid, int(posn),
allele_ref_1, allele_alt_1, allele_ref_2,
allele_alt_2)
#print "Allele discord"
return False
chi_stat, chi_p_value = chisquare(obs, f_exp=exp)
varid = vcfr.get_varid(data)
posn = vcfr.get_posn(data)
if chi_p_value < chipval:
self.chisq_count += 1
logging.info(
"CHI SQ test REJECT: assay1=%s, assay2=%s, varid=%s, posn=%d, chistat=%f, p_val=%e, chipval=%e, obs=%s, exp=%s, at %d",
assays[0], assays[i], varid, int(posn), chi_stat,
chi_p_value, chipval, str(obs), str(exp), i)
#print "CHISQ discord"
return False
logging.info(
"CHI SQ test OK: assay1=%s, assay2=%s, varid=%s, posn=%d, chistat=%f, p_val=%e, obs=%s, exp=%s, at %d",
assays[0], assays[i], varid, int(posn), chi_stat,
chi_p_value, str(obs), str(exp), i)
return True
def process_variant_detail_vcf(self, record, assaytype):
"""Process info file variant detail records
Set up a json-stype document and add it to the
variant buffer
"""
doc = {}
doc["assaytype"] = assaytype
vcfr = VCFrecord(record)
prfx, sfx = vcfr.get_prfx_sfx()
doc["rsid"] = vcfr.get_varid()
# always store chromosome as a 2-digit string
doc["chromosome"] = "%.2d" % (int(vcfr.get_chr()))
alleleA, alleleB = vcfr.get_alleles()
doc["alleleA"] = alleleA
doc["alleleB"] = alleleB
doc["position"] = vcfr.get_posn_as_int()
try:
doc["ref_maf"] = float(vcfr.get_info_value("RefPanelAF"))
except:
pass
try:
doc["info"] = float(vcfr.get_info_value("INFO"))
except:
doc["info"] = 1.0
self.variantbuff.append(doc)
def get_dbsnp_rsid(dbsnpfile, chrom, posn):
dbsnprec = dbsnpfile.get_dbsnp_file_record(options.dbsnpfile, chrom, int(posn))
rsid = ""
refallele = ""
if dbsnprec != None:
dbvcf = VCFrecord(dbsnprec)
rsid = dbvcf.get_varid()
refallele, altallele = dbvcf.get_alleles()
return rsid, refallele
def get_combined_array(self,
buffer_list,
cr_list,
assay_list,
threshold=0.9):
"""
For each list of data, for each element of list of data:
1) Find the col header from the corresonding file_position element
2) Use the col_header to find the combined postion
3) Place the data_element in the combined postion *
TODO - conflict resolution, what to do if a slot is already occupied
TODO - CR check
"""
#print "COMBO", self.combined_positions
#
#print "ASSAY_LIST: %s" % (str(assay_list))
assay_posns = {}
for i, assaytype in enumerate(assay_list):
assay_posns[i] = assaytype
#print "ASSAY_POSNS: %s" % (str(assay_posns))
combo_array = ["."] * len(self.combined_positions)
#print "BUFFL", len(buffer_list)
for i, vcf_record in enumerate(buffer_list):
if len(vcf_record) > 0:
#print "asstp: %d, %s" % (i, assay_list[i])
vcfr = VCFrecord(vcf_record)
prfx, data_list = vcfr.get_prfx_sfx()
probidx = vcfr.get_probidx()
rsid = vcfr.get_varid()
hasAT = vcfr.has_fmt("AT")
for j, dataelem in enumerate(data_list):
if data_list[j] != ".":
cpos = self.combined_positions[self.file_positions[i]
[j]]
geno = self.call_geno_for_threshold(
data_list[j], probidx, threshold)
if (hasAT == False):
geno = geno + ":" + self.assay_abbrev[
assay_list[i]]
if combo_array[cpos] != ".":
self.geno_overlap_count += 1
#print "OVERLAP %s:%s - %s vs %s" % (rsid, self.file_positions[i][j], combo_array[cpos], geno)
geno = self.call_genotype(combo_array[cpos], geno,
probidx)
combo_array[cpos] = geno
return combo_array
def main(options):
#included_assaytypes = {"biggertest":1, "bigtest":1, "affy":1, "illumina":1, "broad":1, "metabo":1, "exome":1}
#included_assaytypes = {"bigtest":1, "affy":1, "illumina":1, "broad":1, "metabo":1, "exome":1}
#included_assaytypes = {"affy":1, "illumina":1, "broad":1, "metabo":1, "exome":1}
#included_assaytypes = {"affy":1, "illumina":1, "broad":1, "exome":1}
#included_assaytypes = {"affy":1, "illumina":1, "broad":1}
#included_assaytypes = {"affy":1, "illumina":1}
included_assaytypes = {"broad":1}
#included_assaytypes = {"metabo":1}
#included_assaytypes = {"affy":1}
#included_assaytypes = {"bigtest":1}
#included_assaytypes = {"biggertest":1}
rsids = []
godb = GoDb()
try:
if options.snpfile != None:
fh = open(options.snpfile, "r")
rsids = load_snpfile_data(fh)
else:
rsids = options.rsids.split(",")
except IOError as e:
print "I/O error({0}): {1}".format(e.errno, e.strerror)
exit()
except TypeError as e:
print "Missing arguments ", e
exit()
except:
logging.info("Unexpected error: %s", str(sys.exc_info()))
sys.exit()
# Step 0 - initialise db connection and instanciate helper objects
mafh = Mafhelper()
hweh = Hwehelper()
# Data structures
atype_list = []
atype_posns = {}
marker_list = []
rsid_assaytypes = {}
rsid_dict = {}
rsid_prfx_dict = {}
rsid_cr_dict = {}
rsid_info_dict = {}
hdr_pref = ["#CHROM", "POS", "ID", "REF", "ALT", "QUAL", "FILTER", "INFO", "FORMAT"]
# Step 1 - get the list of entries for each rsid - one per assaytype
for rsid in rsids:
#logging.info("Processing rsid = %s", rsid)
docs = godb.get_multiple_variants(rsid)
if docs.count() > 0:
rsid_assaytypes[rsid] = []
else:
logging.info("RSID %s NOTFOUND", rsid)
#print docs
# Step 1a - collect assaytypes and marker documents
# At this point we're establishing a list order which must be observed throughout.
for doc in docs:
#logging.info("%s", str(doc))
if doc["assaytype"] not in included_assaytypes:
continue
if doc["assaytype"] not in atype_list:
atype_list.append(doc["assaytype"])
rsid_assaytypes[rsid].append(doc)
logging.info(str(atype_list))
# Step 2 - collect lists of prochis (sample ids) by assaytype
prochi_list = [[]] * len(atype_list)
for i, atype in enumerate(atype_list):
atype_posns[atype] = i
prochi_list[i] = godb.get_samples(atype)
#logging.info("SAMP %d, %s, %s", i, atype, str(prochi_list[i]))
mm = Multibuffermerge(prochi_list)
# Step 3 - get combined col_header positions
# combo is a dict {posn:colname}
combo = mm.get_combined_positions()
#print len(combo)
# combocol is a list [colname1, colname2, ..., colname] again we keep the order of this intact
combocol = mm.get_combined_columns()
# Step 4 - for each variant by rsid
for rsid in rsid_assaytypes:
if rsid not in rsid_dict:
rsid_prfx_dict[rsid] = [[]] * len(atype_list)
rsid_dict[rsid] = [[]] * len(atype_list)
rsid_cr_dict[rsid] = [[]] * len(atype_list)
rsid_info_dict[rsid] = [[]] * len(atype_list)
#print len(rsid_assaytypes[rsid])
for doc in rsid_assaytypes[rsid]:
if options.prfx != None:
fpath = godb.get_full_filepath(doc["assaytype"], doc["chromosome"], options.prfx)
else:
fpath = godb.get_filepath(doc["assaytype"], doc["chromosome"])
logging.info("Assaytype=%s fpath=%s", doc["assaytype"], fpath)
result = godb.get_variant_file_data(fpath, doc["chromosome"], doc["position"])
if result != None:
vcfr = VCFrecord(result)
varid = vcfr.get_varid()
if varid == rsid:
rec = result
maf, ma, cr = mafh.get_maf_and_cr(vcfr)
# TODO - ALSO check maf, also apply QC filter at individual record level
rsid_cr_dict[doc["rsid"]][atype_posns[doc["assaytype"]]] = cr
rsid_dict[doc["rsid"]][atype_posns[doc["assaytype"]]] = rec
logging.info("%s (%s), maf=%s, ma=%s, cr=%s" % (doc["rsid"], doc["assaytype"], maf, ma, cr))
#print combocol
# Step 5 - execute the merge process
print "\t".join(hdr_pref + combocol)
count = 0
concordant = True
for rsid in rsid_dict:
if len(rsid_dict[rsid][0]) > 0:
if options.check == 'Y':
concordant = mm.check_concordancies(rsid_dict[rsid], atype_list, options.chipval)
if concordant == True:
comborec = mm.get_combined_array(rsid_dict[rsid], rsid_cr_dict[rsid], atype_list)
vcfr = VCFrecord(rsid_dict[rsid][0])
prfx,sfx = vcfr.get_prfx_sfx()
if len(prfx) > 0:
logging.info("PRFX = %s, for %s", str(prfx), rsid)
prfx[8] += ":AT"
outrec = prfx + comborec
print "\t".join(outrec)
count += 1
else:
logging.info("RSID %s NOTFOUND (2)", rsid)
pass
else:
logging.info("Concordancy check fail for - %s" % (rsid))
#chi_test_count, allele_disc_count, overlap_count, cr_check_count = mm.get_counts()
#logging.info("Overlap check count = %d, cr_check_count = %d", overlap_count, cr_check_count)
chi_test_count, allele_disc_count, overlap_count = mm.get_counts()
logging.info("CHI test count = %d, Allele discord count = %d, Overlap check count = %d",
chi_test_count, allele_disc_count, overlap_count)
return count
def main(options):
hdrData = ["id"]
sampleDict = {}
colPosns = {}
RefAlleleDict = {}
AltAlleleDict = {}
count = 0
mafh = Mafhelper()
for line in sys.stdin:
line = line.strip()
if (line.startswith('##')):
pass
else:
vcfr = VCFrecord(line)
prfx, sfx = vcfr.get_prfx_sfx()
#print prfx
if (line.startswith('#')):
# Parse out the header record.
for i, col_hdr in enumerate(sfx):
colPosns[i] = col_hdr
sampleDict[col_hdr] = []
else:
flip = False
varid = vcfr.get_varid()
#logging.info("varid=%s", varid)
ref, alt = vcfr.get_alleles()
probidx = vcfr.get_probidx()
hdr_allele = alt
homref_count, het_count, homalt_count, nc_count, miss_count = vcfr.get_allele_counts(
)
call_count = homref_count + het_count + homalt_count
maf, ma = mafh.maf(het_count, homref_count, ref, homalt_count,
alt, nc_count)
RefAlleleDict[varid] = ref
AltAlleleDict[varid] = alt
#if ma == ref:
# flip = True
# hdr_allele = ref
# logging.info("FLIP for %s, %s, %s", varid, ref, alt)
hdrData.extend(
(varid, varid + "_prob", varid + "_plat", varid + "_min"))
for i, str_geno in enumerate(sfx):
if str_geno != ".":
geno = str_geno.split(":")
max_prob, max_idx = get_max_prob(geno, probidx)
i_call = icalls[geno[0]]
if flip == True:
if i_call == "0":
i_call == "2"
elif i_call == "2":
i_call = "0"
if options.platform != None:
sampleDict[colPosns[i]].extend(
(str(i_call), str(max_prob), options.platform,
hdr_allele))
else:
sampleDict[colPosns[i]].extend(
(str(i_call), str(max_prob),
assay_expand[geno[probidx + 1]], hdr_allele))
else:
sampleDict[colPosns[i]].extend(("", "", "", ""))
print ",".join(hdrData)
for samp in sampleDict:
count += 1
print ",".join([samp] + sampleDict[samp])
return count