def generate_sample_vcf(filename='/Users/simonelongo/too_big_for_icloud/gnomad.genomes.r2.1.1.sites.vcf.bgz'):
"""Takes a large VCF file and takes random samples from each chromosome to make a smaller VCF for testing"""
vcf = VCF(filename)
write = Writer('samp_build38.vcf', vcf)
write.write_header()
for chrom_num, chrom_len in REF_GENOME:
begin = random.randint(1000, chrom_len - 1000)
os.system(append_variants_to_vcf(chrom_num, begin, begin + 1000))
write.close()
def generate_sample_vcf(vcf_path, outfile='samp_build38.vcf'):
"""Takes a large VCF file and takes random samples from each chromosome to make a smaller VCF for testing"""
vcf = VCF(vcf_path)
write = Writer(outfile, vcf)
write.write_header()
key_values = zip(vcf.seqnames, vcf.seqlens)
chrom_keys = defaultdict(int)
chroms = get_autosome_names_grch38()
for kv in list(key_values):
if kv[0] in chroms:
chrom_keys[kv[0]] = kv[1]
for chrom_num, chrom_len in chrom_keys.items():
begin = random.randint(100000, chrom_len - 100000)
os.system(
append_variants_to_vcf(vcf_path,
chrom_num,
begin,
begin + 10_000,
outfile=outfile))
write.close()
from os import system
import random
from pyfaidx import Fasta
from cyvcf2 import VCF, Writer
def gen_com(chrom, start, stop):
return "tabix /Users/simonelongo/too_big_for_icloud/gnomad.genomes.r2.1.1.sites.vcf.bgz " + str(
chrom) + ":" + str(start) + "-" + str(stop) + " >> samp.vcf"
fa = Fasta('/Users/simonelongo/too_big_for_icloud/REFERENCE_GENOME_GRch37.fa')
vcf = VCF(
'/Users/simonelongo/too_big_for_icloud/gnomad.genomes.r2.1.1.sites.vcf.bgz'
)
write = Writer('samp.vcf', vcf)
write.write_header()
keys = list(fa.keys())
for key in keys[0:25]:
if key != 'MT':
begin = random.randint(1000, len(fa[key]) - 1000)
system(gen_com(key, begin, begin + 1000))
write.close()
def parse_records(vcf, gq, out_format, vcf_type, verbose_level, purity_filter,
single_sample, out):
'''
Iterates through VCF and writes records passing above
filters to file.
Parameters
-------
vcf : str
File path to input VCF
gq : int
GQ threshold (records >gq kept)
verbose_level : int
How much to print to console.
If 0 - print no progress info besides tqdm bar
If 1 - print counter at each chromosome completion
If 2 - print all candidate information as they are found
vcf_type : str
[combined|pairs] whether the VCF just contains the 0/5 pairs
or other samples as well
out_format : str
[table|vcf] - whether to write as new VCF or
as a tab-separated file
purity_filter : bool
if enabled, will filter out records where mutated site
has >2 reads of non mut allele (see check_record)
single_sample : bool
if enabled, will assume there is only one sample of interest
in the VCF (e.g. just one of 0 and 5) - also assumes 'combined' mode
out : str
Name of file to write to
Returns
-------
None
Writes to specified file.
'''
print(f'the verbose level is {verbose_level}')
vcf_in = VCF(vcf)
sample_names = vcf_in.samples
pair_sample_names = sorted([
item for item in sample_names
if item.endswith('_0') or item.endswith('_5')
])
if single_sample:
try:
assert len(pair_sample_names) == 1
except AssertionError as e:
print(f'[saltMA] ERROR: samples bonked - {pair_sample_names}')
print('[saltMA] Exiting...')
sys.exit()
# get samples
try:
if not single_sample:
sample_lookup = sample_names.index(pair_sample_names[0]), \
sample_names.index(pair_sample_names[1])
elif single_sample:
shortlist = [
s for s in sample_names
if single_sample in s and s != pair_sample_names[0]
]
sample_lookup = sample_names.index(shortlist[0]), \
sample_names.index(pair_sample_names[0])
print(
f'[saltMA] selected samples are {pair_sample_names[0]} and {shortlist[0]}'
)
except IndexError as e:
print('[saltMA] ERROR: Samples seem incorrect. '
'Ensure you have a 0 and 5 sample in the VCF, '
'unless --single_sample has been selected.')
print('[saltMA] Exiting...')
sys.exit()
print(f'[saltMA] initiating filtering for {os.path.basename(vcf)}...')
counter = 0
total_count = 0
doublemut_count = 0
prev_chr = None
if out_format == 'vcf':
outfile = Writer(out, vcf_in)
outfile.write_header()
elif out_format == 'table':
f = open(out, 'w')
header_string = '\t'.join([
'fname', 'chrom', 'pos', 'ref', 'alt', 'gt_bases', 'gt_quals',
'gt_depths'
])
f.write(header_string + '\n')
basename = os.path.basename(vcf).replace('.vcf.gz', '')
for record in tqdm(vcf_in):
total_count += 1
check = check_record(record,
vcf_type,
sample_lookup,
gq=gq,
purity_filter=purity_filter,
single_sample=single_sample)
if check == 'doublemut':
if verbose_level == 2:
tqdm.write(
f'[saltMA] doublemut at {record.CHROM}:{record.POS}')
doublemut_count += 1
continue
else:
doublemut_count += 1
continue
elif check:
counter += 1
if verbose_level == 1:
if not prev_chr:
prev_chr = record.CHROM
tqdm.write(
f'[saltMA] first chrom with detected mut is {prev_chr}'
)
continue
elif prev_chr != record.CHROM:
tqdm.write(f'[saltMA] {prev_chr} completed.')
tqdm.write(f'[saltMA] current count is {counter}')
prev_chr = record.CHROM
elif verbose_level == 2:
tqdm.write(
f'[saltMA] candidate mut found at {record.__repr__()}')
tqdm.write(f'[saltMA] current count is {counter}')
tqdm.write(f'[saltMA] doublemut count is {doublemut_count}')
if out_format == 'vcf':
outfile.write_record(record)
elif out_format == 'table':
out_string = '\t'.join([
basename, record.CHROM,
str(record.POS), record.REF,
str(record.ALT),
str(list(record.gt_bases)),
str(list(record.gt_quals)),
str(list(record.gt_depths)) + '\n'
])
f.write(out_string)
if out_format == 'table':
f.close()
print(f'[saltMA] completed search for {os.path.basename(vcf)}')
print(f'[saltMA] found {counter} matches over {total_count} sites.')
def vcfprep(args):
"""
Iterate through parental VCF and remove records by given filters.
All records where parent1 allele is the same as parent2
('uninformative sites') are automatically removed.
Raises ValueError if >2 samples in VCF (should just be 2 parents)
Parameters
----------
args : Namespace
Namespace containing all user given arguements compiled by arg_parse()
Returns
-------
total_count : int
total records considered
kept_count : int
number of records that passed filters
"""
vcf_in = VCF(args.vcf)
if len(vcf_in.samples) > 2:
raise ValueError('more than 2 parental samples in input VCF')
if args.snps_only and args.indels_only:
raise ValueError('both --snps_only and --indels_only provided. pick one or neither!')
if args.out.endswith('.gz'):
outfile = args.out.replace('.gz', '')
vcf_out = Writer(outfile, vcf_in)
vcf_out.write_header()
total_count, kept_count = 0, 0
for record in tqdm(vcf_in):
total_count += 1
if not len(record.ALT) > 0:
continue
# SNP filter
if args.snps_only and not record.is_snp:
continue
# indel filter
if args.indels_only and not record.is_indel:
continue
# heterozygote call filter
if args.no_hets and record.num_het != 0:
continue
# genotype quality filter
if not all(record.gt_quals >= args.min_GQ):
continue
# ensure parental alleles differ
if record.gt_bases[0] == record.gt_bases[1]:
continue
# only passes if record not caught in above filters
vcf_out.write_record(record)
kept_count += 1
return total_count, kept_count
def process_file(data: VCF, groups: list, f: int, fileout: list) -> None:
#TODO: clean/refactor execution comments like processed file name
#TODO: refactor processing lis tof files into single file processing + remove MSS param
# data: VCF, groups: list, simul: str, fileout: str
"""
Computes and rewrites genotypes of all individuals for all samples from input files
:param data: cyvcf2 object reader pointing on a VCF-file
:param groups: samples identifiers split in pools
:param f: integer, index of the file to process in the list
:param fileout: VCF-files with simulated pooled or randomly missing genotypes
"""
print('Simulation type: ', 'simul')
print('file out: ', os.path.join(os.getcwd(), fileout[f])) # prm.PATH_OUT[simul]
if prm.GTGL == 'GL' and prm.unknown_gl == 'adaptative':
dic_header = {'ID': 'GL',
'Number': 'G',
'Type': 'Float',
'Description': 'three log10-scaled likelihoods for RR,RA,AA genotypes'}
data.add_format_to_header(dic_header)
whead = Writer(fileout[f], data)
#TODO: whead = Writer(prm.PATH_OUT[simul], data)
whead.write_header()
whead.close()
w = open(fileout[f], 'ab')
#TODO: w = open(prm.PATH_OUT[simul], 'ab')
# Load adaptive GL values for missing data
df = pd.read_csv(os.path.join(prm.WD, 'adaptive_gls.csv'),
header=None,
names=['rowsrr', 'rowsra', 'rowsaa', 'colsrr', 'colsra', 'colsaa',
'n', 'm',
'rr', 'ra', 'aa']
)
df2dict = dict(((int(rwrr), int(rwra), int(rwaa), int(clrr), int(clra), int(claa),
int(n), int(m)),
[rr, ra, aa]) for rwrr, rwra, rwaa, clrr, clra, claa,
n, m,
rr, ra, aa in df.itertuples(index=False, name=None))
sig = allfqc.SigmoidInterpolator(os.path.join(prm.PATH_GT_FILES, prm.RAW['gz'].replace('gl', 'gt')),
os.path.join(prm.PATH_GT_FILES, prm.POOLED['gz'].replace('gl', 'gt')))
params = sig.get_sigmoid_params()
interp = sig.interpolate_derivative()
else: # prm.GTGL == 'GT' or fixed GL
w = Writer(fileout[f], data)
#TODO: w = Writer(prm.PATH_OUT[simul], data)
w.set_threads(4)
df2dict = None
sig = None
params = None
interp = None
tm = time.time()
# for n, variant in enumerate(data('20:59973567-59973568')):
for n, variant in enumerate(data):
process_line(groups, f, w, variant, df2dict, sig, params, interp)
if n % 1000 == 0:
print('{} variants processed in {:06.2f} sec'.format(n+1, time.time()-tm).ljust(80, '.'))
# if n+1 == 1000:
# break
w.close()
# GL converted from GT, missing GLs will be filled with [0.33, 0.33, 0.33]
if prm.GTGL == 'GL' and prm.unknown_gl != 'adaptative':
alltls.file_likelihood_converter(os.path.join(prm.PATH_GT_FILES,
fileout[f].replace('.gl', '.gt')) + '.gz', # prm.PATH_OUT[simul]
fileout[f]) # prm.PATH_OUT[simul]
