def _af_filter(data, in_file, out_file):
"""Soft-filter variants with AF below min_allele_fraction (appends "MinAF" to FILTER)
"""
min_freq = float(
utils.get_in(data["config"],
("algorithm", "min_allele_fraction"), 10)) / 100.0
logger.info(
"Filtering MuTect2 calls with allele fraction threshold of %s" %
min_freq)
ungz_out_file = "%s.vcf" % utils.splitext_plus(out_file)[0]
if not utils.file_exists(ungz_out_file) and not utils.file_exists(
ungz_out_file + ".gz"):
with file_transaction(data, ungz_out_file) as tx_out_file:
vcf = VCF(in_file)
vcf.add_filter_to_header({
'ID':
'MinAF',
'Description':
'Allele frequency is lower than %s%% ' % (min_freq * 100) +
('(configured in bcbio as min_allele_fraction)'
if utils.get_in(data["config"],
("algorithm", "min_allele_fraction")) else
'(default threshold in bcbio; override with min_allele_fraction in the algorithm section)'
)
})
w = Writer(tx_out_file, vcf)
tumor_index = vcf.samples.index(data['description'])
for rec in vcf:
if np.all(rec.format('AF')[tumor_index] < min_freq):
vcfutils.cyvcf_add_filter(rec, 'MinAF')
w.write_record(rec)
w.close()
return vcfutils.bgzip_and_index(ungz_out_file, data["config"])
def _af_filter(data, in_file, out_file):
"""Soft-filter variants with AF below min_allele_fraction (appends "MinAF" to FILTER)
"""
min_freq = float(utils.get_in(data["config"], ("algorithm", "min_allele_fraction"), 10)) / 100.0
logger.debug("Filtering MuTect2 calls with allele fraction threshold of %s" % min_freq)
ungz_out_file = "%s.vcf" % utils.splitext_plus(out_file)[0]
if not utils.file_exists(ungz_out_file) and not utils.file_exists(ungz_out_file + ".gz"):
with file_transaction(data, ungz_out_file) as tx_out_file:
vcf = cyvcf2.VCF(in_file)
vcf.add_filter_to_header({
'ID': 'MinAF',
'Description': 'Allele frequency is lower than %s%% ' % (min_freq*100) + (
'(configured in bcbio as min_allele_fraction)'
if utils.get_in(data["config"], ("algorithm", "min_allele_fraction"))
else '(default threshold in bcbio; override with min_allele_fraction in the algorithm section)')})
w = cyvcf2.Writer(tx_out_file, vcf)
# GATK 3.x can produce VCFs without sample names for empty VCFs
try:
tumor_index = vcf.samples.index(dd.get_sample_name(data))
except ValueError:
tumor_index = None
for rec in vcf:
if tumor_index is not None and np.all(rec.format('AF')[tumor_index] < min_freq):
vcfutils.cyvcf_add_filter(rec, 'MinAF')
w.write_record(rec)
w.close()
return vcfutils.bgzip_and_index(ungz_out_file, data["config"])
def _af_annotate_and_filter(paired, items, in_file, out_file):
"""Populating FORMAT/AF, and dropping variants with AF<min_allele_fraction
Strelka2 doesn't report exact AF for a variant, however it can be calculated as alt_counts/dp from existing fields:
somatic
snps: GT:DP:FDP:SDP:SUBDP:AU:CU:GU:TU dp=DP {ALT}U[0] = alt_counts(tier1,tier2)
indels: GT:DP:DP2:TAR:TIR:TOR:DP50:FDP50:SUBDP50:BCN50 dp=DP TIR = alt_counts(tier1,tier2)
germline
snps: GT:GQ:GQX:DP:DPF:AD:ADF:ADR:SB:FT:PL(:PS) dp=sum(alt_counts) AD = ref_count,alt_counts
indels: GT:GQ:GQX:DPI:AD:ADF:ADR:FT:PL(:PS) dp=sum(alt_counts) AD = ref_count,alt_counts
"""
data = paired.tumor_data if paired else items[0]
min_freq = float(utils.get_in(data["config"], ("algorithm", "min_allele_fraction"), 10)) / 100.0
logger.info("Filtering Strelka2 calls with allele fraction threshold of %s" % min_freq)
ungz_out_file = "%s.vcf" % utils.splitext_plus(out_file)[0]
if not utils.file_exists(ungz_out_file) and not utils.file_exists(ungz_out_file + ".gz"):
with file_transaction(data, ungz_out_file) as tx_out_file:
vcf = VCF(in_file)
vcf.add_format_to_header({
'ID': 'AF',
'Description': 'Allele frequency, as calculated in bcbio: AD/DP (germline), <ALT>U/DP (somatic snps), '
'TIR/DPI (somatic indels)',
'Type': 'Float',
'Number': '.'})
vcf.add_filter_to_header({
'ID': 'MinAF',
'Description': 'Allele frequency is lower than %s%% ' % (min_freq*100) + (
'(configured in bcbio as min_allele_fraction)'
if utils.get_in(data["config"], ("algorithm", "min_allele_fraction"))
else '(default threshold in bcbio; override with min_allele_fraction in the algorithm section)')})
w = Writer(tx_out_file, vcf)
tumor_index = vcf.samples.index(data['description'])
for rec in vcf:
if paired: # somatic?
if rec.is_snp: # snps?
alt_counts = rec.format(rec.ALT[0] + 'U')[:,0] # {ALT}U=tier1_depth,tier2_depth
else: # indels
alt_counts = rec.format('TIR')[:,0] # TIR=tier1_depth,tier2_depth
dp = rec.format('DP')[:,0]
elif rec.format("AD") is not None: # germline?
alt_counts = rec.format('AD')[:,1:] # AD=REF,ALT1,ALT2,...
dp = np.sum(rec.format('AD')[:,0:], axis=1)
else: # germline gVCF record
alt_counts, dp = (None, None)
if dp is not None:
with np.errstate(divide='ignore', invalid='ignore'): # ignore division by zero and put AF=.0
af = np.true_divide(alt_counts, dp)
af[~np.isfinite(af)] = .0 # -inf inf NaN -> .0
rec.set_format('AF', af)
if paired and np.all(af[tumor_index] < min_freq):
vcfutils.cyvcf_add_filter(rec, 'MinAF')
w.write_record(rec)
w.close()
return vcfutils.bgzip_and_index(ungz_out_file, data["config"])
def _af_annotate_and_filter(paired, items, in_file, out_file):
"""Populating FORMAT/AF, and dropping variants with AF<min_allele_fraction
Strelka2 doesn't report exact AF for a variant, however it can be calculated as alt_counts/dp from existing fields:
somatic
snps: GT:DP:FDP:SDP:SUBDP:AU:CU:GU:TU dp=DP {ALT}U[0] = alt_counts(tier1,tier2)
indels: GT:DP:DP2:TAR:TIR:TOR:DP50:FDP50:SUBDP50:BCN50 dp=DP TIR = alt_counts(tier1,tier2)
germline
snps: GT:GQ:GQX:DP:DPF:AD:ADF:ADR:SB:FT:PL(:PS) dp=sum(alt_counts) AD = ref_count,alt_counts
indels: GT:GQ:GQX:DPI:AD:ADF:ADR:FT:PL(:PS) dp=sum(alt_counts) AD = ref_count,alt_counts
"""
data = paired.tumor_data if paired else items[0]
min_freq = float(utils.get_in(data["config"], ("algorithm", "min_allele_fraction"), 10)) / 100.0
logger.debug("Filtering Strelka2 calls with allele fraction threshold of %s" % min_freq)
ungz_out_file = "%s.vcf" % utils.splitext_plus(out_file)[0]
if not utils.file_exists(ungz_out_file) and not utils.file_exists(ungz_out_file + ".gz"):
with file_transaction(data, ungz_out_file) as tx_out_file:
vcf = cyvcf2.VCF(in_file)
vcf.add_format_to_header({
'ID': 'AF',
'Description': 'Allele frequency, as calculated in bcbio: AD/DP (germline), <ALT>U/DP (somatic snps), '
'TIR/DPI (somatic indels)',
'Type': 'Float',
'Number': '.'})
vcf.add_filter_to_header({
'ID': 'MinAF',
'Description': 'Allele frequency is lower than %s%% ' % (min_freq*100) + (
'(configured in bcbio as min_allele_fraction)'
if utils.get_in(data["config"], ("algorithm", "min_allele_fraction"))
else '(default threshold in bcbio; override with min_allele_fraction in the algorithm section)')})
w = cyvcf2.Writer(tx_out_file, vcf)
tumor_index = vcf.samples.index(data['description'])
for rec in vcf:
if paired: # somatic?
if rec.is_snp: # snps?
alt_counts = rec.format(rec.ALT[0] + 'U')[:,0] # {ALT}U=tier1_depth,tier2_depth
else: # indels
alt_counts = rec.format('TIR')[:,0] # TIR=tier1_depth,tier2_depth
dp = rec.format('DP')[:,0]
elif rec.format("AD") is not None: # germline?
alt_counts = rec.format('AD')[:,1:] # AD=REF,ALT1,ALT2,...
dp = np.sum(rec.format('AD')[:,0:], axis=1)[:, None]
else: # germline gVCF record
alt_counts, dp = (None, None)
if dp is not None:
with np.errstate(divide='ignore', invalid='ignore'): # ignore division by zero and put AF=.0
af = np.true_divide(alt_counts, dp)
af[~np.isfinite(af)] = .0 # -inf inf NaN -> .0
rec.set_format('AF', af)
if paired and np.all(af[tumor_index] < min_freq):
vcfutils.cyvcf_add_filter(rec, 'MinAF')
w.write_record(rec)
w.close()
return vcfutils.bgzip_and_index(ungz_out_file, data["config"])
def _add_somatic_filter(rec):
if _is_somatic(rec):
return vcfutils.cyvcf_add_filter(rec, "Somatic")
return rec
def _add_somatic_filter(rec):
if _is_somatic(rec):
return vcfutils.cyvcf_add_filter(rec, "Somatic")
return rec
