def main():
# parse options
option, args = doc_optparse.parse(__doc__)
if len(args) < 2:
doc_optparse.exit()
# try opening the file both ways, in case the arguments got confused
try:
gff_file = gff.input(args[1])
twobit_file = twobit.input(args[0])
except Exception:
gff_file = gff.input(args[0])
twobit_file = twobit.input(args[1])
for record in gff_file:
if record.seqname.startswith("chr"):
chr = record.seqname
else:
chr = "chr" + record.seqname
ref_seq = twobit_file[chr][(record.start - 1):record.end]
if option.diff:
if record.attributes.has_key("ref_allele"):
if record.attributes["ref_allele"].strip("\"") == ref_seq.upper():
continue
record.attributes["ref_allele"] = ref_seq.upper()
print record
def match2ref(gff_input, twobit_filename):
# Iff gff_filename is a string ending with ".gz", assume gzip compressed
gff_file = None
if isinstance(gff_input, str) and (re.match(".*\.gz$", gff_input)):
gff_file = gff.input(gzip.open(gff_input))
else:
# GFF will interpret if gff_filename is string containing path
# to a GFF-formatted text file, or a string generator
# (e.g. file object) with GFF-formatted strings
gff_file = gff.input(gff_input)
twobit_file = twobit.input(twobit_filename)
header_done = False
# Process input data to get ref allele
for record in gff_file:
# Have to do this after calling the first record to
# get the iterator to read through the header data
if not header_done:
yield "##gff-version " + gff_file.data[0]
yield "##genome-build " + gff_file.data[1]
yield "# Produced by: gff_twobit_query.py"
yield "# Date: " + datetime.datetime.now().isoformat(' ')
header_done = True
# Skip REF lines
if record.feature == "REF":
yield str(record)
continue
# Add "chr" to chromosome ID if missing
if record.seqname.startswith("chr"):
chr = record.seqname
else:
chr = "chr" + record.seqname
ref_seq = "-" # represents variant with length zero
if (record.end - (record.start - 1)) > 0:
ref_seq = twobit_file[chr][(record.start - 1):record.end]
if ref_seq == '':
sys.stderr.write(
"ERROR: this location does not exist in the reference genome. Start: %d, end: %d. Perhaps the input is aligned against a different reference genome?\n"
% (record.start, record.end))
sys.exit()
if record.attributes:
# If reference at this pos, note this and remove attributes data.
if ("alleles" in record.attributes
and record.attributes["alleles"] == ref_seq.upper()):
record.feature = "REF"
record.attributes = None
else:
record.attributes["ref_allele"] = ref_seq.upper()
yield str(record)
def match2ref(gff_input, twobit_filename):
# Iff gff_filename is a string ending with ".gz", assume gzip compressed
gff_file = None
if isinstance(gff_input, str) and (re.match(".*\.gz$", gff_input)):
gff_file = gff.input(gzip.open(gff_input))
else:
# GFF will interpret if gff_filename is string containing path
# to a GFF-formatted text file, or a string generator
# (e.g. file object) with GFF-formatted strings
gff_file = gff.input(gff_input)
twobit_file = twobit.input(twobit_filename)
header_done = False
# Process input data to get ref allele
for record in gff_file:
# Have to do this after calling the first record to
# get the iterator to read through the header data
if not header_done:
yield "##gff-version " + gff_file.data[0]
yield "##genome-build " + gff_file.data[1]
yield "# Produced by: gff_twobit_query.py"
yield "# Date: " + datetime.datetime.now().isoformat(' ')
header_done = True
# Skip REF lines
if record.feature == "REF":
yield str(record)
continue
# Add "chr" to chromosome ID if missing
if record.seqname.startswith("chr"):
chr = record.seqname
else:
chr = "chr" + record.seqname
ref_seq = "-" # represents variant with length zero
if (record.end - (record.start - 1)) > 0:
ref_seq = twobit_file[chr][(record.start - 1):record.end]
if ref_seq == '':
sys.stderr.write ("ERROR: this location does not exist in the reference genome. Start: %d, end: %d. Perhaps the input is aligned against a different reference genome?\n" % (record.start, record.end))
sys.exit()
if record.attributes:
# If reference at this pos, note this and remove attributes data.
if ("alleles" in record.attributes and
record.attributes["alleles"] == ref_seq.upper()):
record.feature = "REF"
record.attributes = None
else:
record.attributes["ref_allele"] = ref_seq.upper()
yield str(record)
# return if we don't have the correct arguments
if len(sys.argv) < 3:
raise SystemExit(__doc__.replace("%prog", sys.argv[0]))
# first, try to connect to the databases
try:
connection = MySQLdb.connect(host=DB_HOST, user=DB_READ_USER, passwd=DB_READ_PASSWD, db=DB_READ_DATABASE)
cursor = connection.cursor()
except MySQLdb.OperationalError, message:
print "Error %d while connecting to database: %s" % (message[0], message[1])
sys.exit()
# try opening the file both ways, in case the arguments got confused
try:
gff_file = gff.input(sys.argv[2])
twobit_file = twobit.input(sys.argv[1])
except Exception:
gff_file = gff.input(sys.argv[1])
twobit_file = twobit.input(sys.argv[2])
for record in gff_file:
if record.seqname.startswith("chr"):
chr = record.seqname
else:
chr = "chr" + record.seqname
# recall that record.start is 1-based, but the database is not
cursor.execute(query, (chr, record.start - 1, record.end - 1))
data = cursor.fetchall()
# go away if we have a non-coding sequence
def get_allele_freqs(password, getev_file, excluded=None, chromfile=None,
outputfile=None):
# Set up output, genome inputs, GET-Evidence variants, and twobit reference.
if outputfile:
print "Setting up output file"
f_out = autozip.file_open(outputfile, 'w')
else:
f_out = None
genome_ids = get_genome_list(password, excluded)
if chromfile:
if f_out:
print "Getting chromosomes..."
chroms = read_single_items(chromfile)
else:
chroms = None
if f_out:
print "Reading GET-Ev flat file (takes a couple minutes)..."
getev_variants = load_getev(getev_file)
if f_out:
print "Loading twobit genome..."
twobit_genome = twobit.input(TWOBIT_PATH)
if f_out:
print("Setting up GenomeSet (may be slow if each genome has to advance " +
"to target chromosomes)...")
genome_set = GenomeSet(genome_ids, chroms=chroms, getev_vars=getev_variants,
verbose=True)
else:
genome_set = GenomeSet(genome_ids, chroms=chroms, getev_vars=getev_variants)
if f_out:
print "Find earliest ends"
earliest_ends = genome_set.earliest_ends()
#print earliest_ends
# Move through the genomes to find allele frequencies
while genome_set.genomes:
# Move ahead of all "earliest ends" & save new earliest.
next_earliest = genome_set.advance_all_past_end_pos(earliest_ends[0])
# Check all old "earliest ends" positions for interesting variants.
has_var = []
is_interesting = False
for position in earliest_ends:
#print position
if not position['ref']:
has_var.append(position)
#is_interesting = True
if 'amino_acid' in position or 'getev_id' in position:
is_interesting = True
#if is_interesting:
# print "Earliest ends: " + str(earliest_ends)
# print [(x.id, x.data[-1]) for x in genome_set.genomes]
# if has_var:
# print "Var pos: " + str(has_var)
# If there are interesting variants, calculate allele frequency.
if has_var and is_interesting:
# Check if another genomes has an overlapping variant extending
# beyond this position, we're not ready to evaluate this yet
# (it will be caught when the later overlapping one comes up).
if genome_set.no_later_var(has_var):
freqout = genome_set.eval_var_freq(has_var, twobit_genome)
if f_out:
f_out.write(freqout + '\n')
else:
print freqout
genome_set.clean_out_prior_pos(earliest_ends)
# Reset "earliest end" to next earliest positions.
earliest_ends = next_earliest
# parse options
option, args = doc_optparse.parse(__doc__)
if len(args) < 1:
doc_optparse.exit()
# first, try to connect to the database
try:
connection = MySQLdb.connect(host=DB_HOST, user=DB_READ_USER, passwd=DB_READ_PASSWD, db=DB_READ_DATABASE)
cursor = connection.cursor()
except MySQLdb.OperationalError, message:
print "Error %d while connecting to database: %s" % (message[0], message[1])
sys.exit()
if option.reference:
twobit_file = twobit.input(option.reference)
for line in fileinput.input(args[0]):
l = line.strip().split('\t')
if len(l) < 5:
print >> sys.stderr, l
# input lines are in the form:
# chromosome, position, rs, genotype, phenotype, pubmed (optional)
if l[0].startswith("chr") or l[0] == "None":
chr = l[0]
else:
chr = "chr" + l[0]
try:
pos = int(l[1])
except ValueError:
def predict_nonsynonymous(gff_input, twobit_path, transcript_path, progresstracker=False):
twobit_file = twobit.input(twobit_path)
transcript_input = transcript_file(transcript_path)
# Set up gff_data
gff_data = None
if isinstance(gff_input, str) and (re.match(".*\.gz$", gff_input)):
gff_data = gff.input(gzip.open(gff_input))
else:
# GFF will interpret if gff_filename is string containing path
# to a GFF-formatted text file, or a string generator
# (e.g. file object) with GFF-formatted strings
gff_data = gff.input(gff_input)
header_done = False
for record in gff_data:
# Have to do this after calling the first record to
# get the iterator to read through the header data
if not header_done:
yield "##genome-build " + gff_data.data[1]
yield "# Produced by: gff_nonsynonymous_filter.py"
yield "# Date: " + datetime.datetime.now().isoformat(" ")
header_done = True
if record.feature == "REF":
yield str(record)
continue
if record.seqname.startswith("chr"):
chromosome = record.seqname
else:
if record.seqname.startswith("Chr"):
chromosome = "chr" + record.seqname[3:]
else:
chromosome = "chr" + record.seqname
if progresstracker:
progresstracker.saw(chromosome)
# record.start is 1-based, but UCSC annotation starts are 0-based, so subtract 1
record_position = (chromosome, record.start - 1)
transcripts = transcript_input.cover_next_position(record_position)
# Skip the rest if no transcripts are returned
if not transcripts:
yield str(record)
continue
# otherwise, cycle through
nonsyn_inferences = []
splice_inferences = []
ucsc_transcripts = []
is_nonsynonymous = is_splice = False
for data in transcripts:
# need to make "d" match up with transcript file order
# d : geneName, strand, cdsStart, cdsEnd, exonStarts, exonEnds
# 0, 3, 6, 7, 9, 10
d = (data[0], data[3], int(data[6]), int(data[7]), data[9], data[10])
i = infer_function(twobit_file, record, *d)
if i[0] == "nonsynonymous coding":
nonsyn_inferences.append("%s %s" % (d[0], i[2]))
is_nonsynonymous = True
ucsc_transcripts.append(data[1])
elif i[0] == "splice site":
splice_inferences.append("%s %s " % (d[0], i[2]))
is_splice = True
# set the attribute if we can
if (not is_nonsynonymous) and (not is_splice):
yield str(record)
else:
if len(nonsyn_inferences) > 0:
unique_inferences = unique(nonsyn_inferences)
unique_inferences.sort(key=str.lower)
record.attributes["amino_acid"] = "/".join(unique_inferences)
record.attributes["ucsc_trans"] = ",".join(ucsc_transcripts)
if len(splice_inferences) > 0:
# Not going to report splice sites for now, but leaving the
# code here because we hope to later. - Madeleine 2010/11/29
pass
# unique_inferences = unique(splice_inferences)
# unique_inferences.sort(key=str.lower)
# record.attributes["splice"] = "/".join(unique_inferences)
yield str(record)
def get_allele_freqs(password,
getev_file,
excluded=None,
chromfile=None,
outputfile=None):
# Set up output, genome inputs, GET-Evidence variants, and twobit reference.
if outputfile:
print "Setting up output file"
f_out = autozip.file_open(outputfile, 'w')
else:
f_out = None
genome_ids = get_genome_list(password, excluded)
if chromfile:
if f_out:
print "Getting chromosomes..."
chroms = read_single_items(chromfile)
else:
chroms = None
if f_out:
print "Reading GET-Ev flat file (takes a couple minutes)..."
getev_variants = load_getev(getev_file)
if f_out:
print "Loading twobit genome..."
twobit_genome = twobit.input(TWOBIT_PATH)
if f_out:
print(
"Setting up GenomeSet (may be slow if each genome has to advance "
+ "to target chromosomes)...")
genome_set = GenomeSet(genome_ids,
chroms=chroms,
getev_vars=getev_variants,
verbose=True)
else:
genome_set = GenomeSet(genome_ids,
chroms=chroms,
getev_vars=getev_variants)
if f_out:
print "Find earliest ends"
earliest_ends = genome_set.earliest_ends()
#print earliest_ends
# Move through the genomes to find allele frequencies
while genome_set.genomes:
# Move ahead of all "earliest ends" & save new earliest.
next_earliest = genome_set.advance_all_past_end_pos(earliest_ends[0])
# Check all old "earliest ends" positions for interesting variants.
has_var = []
is_interesting = False
for position in earliest_ends:
#print position
if not position['ref']:
has_var.append(position)
#is_interesting = True
if 'amino_acid' in position or 'getev_id' in position:
is_interesting = True
#if is_interesting:
# print "Earliest ends: " + str(earliest_ends)
# print [(x.id, x.data[-1]) for x in genome_set.genomes]
# if has_var:
# print "Var pos: " + str(has_var)
# If there are interesting variants, calculate allele frequency.
if has_var and is_interesting:
# Check if another genomes has an overlapping variant extending
# beyond this position, we're not ready to evaluate this yet
# (it will be caught when the later overlapping one comes up).
if genome_set.no_later_var(has_var):
freqout = genome_set.eval_var_freq(has_var, twobit_genome)
if f_out:
f_out.write(freqout + '\n')
else:
print freqout
genome_set.clean_out_prior_pos(earliest_ends)
# Reset "earliest end" to next earliest positions.
earliest_ends = next_earliest
def predict_nonsynonymous(gff_input,
twobit_path,
transcript_path,
progresstracker=False):
twobit_file = twobit.input(twobit_path)
transcript_input = transcript_file(transcript_path)
# Set up gff_data
gff_data = None
if isinstance(gff_input, str) and (re.match(".*\.gz$", gff_input)):
gff_data = gff.input(gzip.open(gff_input))
else:
# GFF will interpret if gff_filename is string containing path
# to a GFF-formatted text file, or a string generator
# (e.g. file object) with GFF-formatted strings
gff_data = gff.input(gff_input)
header_done = False
for record in gff_data:
# Have to do this after calling the first record to
# get the iterator to read through the header data
if not header_done:
yield "##genome-build " + gff_data.data[1]
yield "# Produced by: gff_nonsynonymous_filter.py"
yield "# Date: " + datetime.datetime.now().isoformat(' ')
header_done = True
if record.feature == "REF":
yield str(record)
continue
if record.seqname.startswith("chr"):
chromosome = record.seqname
else:
if record.seqname.startswith("Chr"):
chromosome = "chr" + record.seqname[3:]
else:
chromosome = "chr" + record.seqname
if progresstracker: progresstracker.saw(chromosome)
# record.start is 1-based, but UCSC annotation starts are 0-based, so subtract 1
record_position = (chromosome, record.start - 1)
transcripts = transcript_input.cover_next_position(record_position)
# Skip the rest if no transcripts are returned
if (not transcripts):
yield str(record)
continue
# otherwise, cycle through
nonsyn_inferences = []
splice_inferences = []
ucsc_transcripts = []
is_nonsynonymous = is_splice = False
for data in transcripts:
# need to make "d" match up with transcript file order
# d : geneName, strand, cdsStart, cdsEnd, exonStarts, exonEnds
# 0, 3, 6, 7, 9, 10
d = (data[0], data[3], int(data[6]), int(data[7]), data[9],
data[10])
i = infer_function(twobit_file, record, *d)
if i[0] == "nonsynonymous coding":
nonsyn_inferences.append("%s %s" % (d[0], i[2]))
is_nonsynonymous = True
ucsc_transcripts.append(data[1])
elif i[0] == "splice site":
splice_inferences.append("%s %s " % (d[0], i[2]))
is_splice = True
# set the attribute if we can
if (not is_nonsynonymous) and (not is_splice):
yield str(record)
else:
if len(nonsyn_inferences) > 0:
unique_inferences = unique(nonsyn_inferences)
unique_inferences.sort(key=str.lower)
record.attributes["amino_acid"] = "/".join(unique_inferences)
record.attributes["ucsc_trans"] = ",".join(ucsc_transcripts)
if len(splice_inferences) > 0:
# Not going to report splice sites for now, but leaving the
# code here because we hope to later. - Madeleine 2010/11/29
pass
# unique_inferences = unique(splice_inferences)
# unique_inferences.sort(key=str.lower)
# record.attributes["splice"] = "/".join(unique_inferences)
yield str(record)
def main():
# parse options
option, args = doc_optparse.parse(__doc__)
if len(args) < 2:
doc_optparse.exit()
flank = int(option.flank or 0)
# try opening the file both ways, in case the arguments got confused
try:
gff_file = gff.input(args[1])
twobit_file = twobit.input(args[0])
except Exception:
gff_file = gff.input(args[0])
twobit_file = twobit.input(args[1])
# initialize a set of variables to keep track of uniqueness, if we need them
if option.unique:
previous_record = None
previous_ref_seq = None
repetition_count = 1
for record in gff_file:
# if we're using the unique option, output the previous record only when
# we're sure we've seen all repetitions of it
if option.unique and record == previous_record:
repetition_count += 1
continue
elif option.unique:
if previous_record:
previous_record.attributes["repetition_count"] = str(repetition_count)
print FastaRecord(str(previous_record).replace("\t", "|"), previous_ref_seq)
repetition_count = 1
previous_record = record
if record.seqname.startswith("chr"):
chr = record.seqname
else:
chr = "chr" + record.seqname
ref_seq = twobit_file[chr][(record.start - 1):record.end]
if flank != 0:
# calculate the flanks (these variables are 0-based)
left_flank_start = record.start - flank - 1
left_flank_end = record.start - 1
if left_flank_start < 0:
left_flank_start = 0
right_flank_start = record.end
right_flank_end = record.end + flank
# now find them
left_flank_seq = twobit_file[chr][left_flank_start:left_flank_end]
right_flank_seq = twobit_file[chr][right_flank_start:right_flank_end]
ref_seq = left_flank_seq + "\n\n" + ref_seq + "\n\n" + right_flank_seq
if option.strand and record.strand == "-":
ref_seq = reverse_complement(ref_seq)
# we don't output the current record if we're using the unique option
if option.unique:
previous_ref_seq = ref_seq
else:
print FastaRecord(str(record).replace("\t", "|"), ref_seq)
# we'll have one last record yet to output if we used the unique option
if option.unique:
previous_record.attributes["repetition_count"] = str(repetition_count)
print FastaRecord(str(previous_record).replace("\t", "|"), previous_ref_seq)
