def _scalpel_bed_file_opts(items, config, out_file, region, tmp_path):
variant_regions = bedutils.population_variant_regions(items)
target = shared.subset_variant_regions(variant_regions, region, out_file,
items)
if target:
if isinstance(target, basestring) and os.path.isfile(target):
target_bed = target
else:
target_bed = os.path.join(tmp_path, "tmp.bed")
if not utils.file_exists(target_bed):
with file_transaction(config, target_bed) as tx_tmp_bed:
if not isinstance(region, (list, tuple)):
message = (
"Region must be a tuple - something odd just happened"
)
raise ValueError(message)
chrom, start, end = region
with open(tx_tmp_bed, "w") as out_handle:
print("%s\t%s\t%s" % (chrom, start, end),
file=out_handle)
if any(dd.get_coverage_interval(x) == "genome" for x in items):
target_bed = shared.remove_highdepth_regions(target_bed, items)
target_bed = shared.remove_lcr_regions(target_bed, items)
return ["--bed", target_bed]
else:
return []
def _scalpel_options_from_config(items, config, out_file, region, tmp_path):
opts = []
# output vcf, report only variants within bed regions
opts += ["--format", "vcf", "--intarget", "--covthr 3", "--lowcov 1"]
variant_regions = utils.get_in(config, ("algorithm", "variant_regions"))
target = subset_variant_regions(variant_regions, region, out_file, items)
if target:
if isinstance(target, basestring) and os.path.isfile(target):
target_bed = target
else:
target_bed = os.path.join(tmp_path, "tmp.bed")
with file_transaction(config, target_bed) as tx_tmp_bed:
if not isinstance(region, (list, tuple)):
message = (
"Region must be a tuple - something odd just happened")
raise ValueError(message)
chrom, start, end = region
with open(tx_tmp_bed, "w") as out_handle:
print("%s\t%s\t%s" % (chrom, start, end), file=out_handle)
opts += ["--bed", remove_lcr_regions(target_bed, items)]
resources = config_utils.get_resources("scalpel", config)
if resources.get("options"):
opts += resources["options"]
if "--outratio" not in " ".join(opts):
# add minimum reportable allele frequency, for which Scalpel defaults to 5
# but other somatic tools in bcbio default to 10
min_af = float(
utils.get_in(config,
("algorithm", "min_allele_fraction"), 10)) / 100.0
opts += ["--outratio", str(min_af)]
return opts
def _pindel_options(items, config, out_file, region, tmp_path):
"""parse pindel options. Add region to cmd.
:param items: (dict) information from yaml
:param config: (dict) information from yaml (items[0]['config'])
:param region: (str or tupple) region to analyze
:param tmp_path: (str) temporal folder
:returns: (list) options for pindel
"""
variant_regions = utils.get_in(config, ("algorithm", "variant_regions"))
target = subset_variant_regions(variant_regions, region, out_file, items)
opts = ""
if target:
if isinstance(target, six.string_types) and os.path.isfile(target):
target_bed = target
else:
target_bed = os.path.join(tmp_path, "tmp.bed")
with file_transaction(config, target_bed) as tx_tmp_bed:
if not isinstance(region, (list, tuple)):
message = ("Region must be a tuple - something odd just happened")
raise ValueError(message)
chrom, start, end = region
with open(tx_tmp_bed, "w") as out_handle:
print("%s\t%s\t%s" % (chrom, start, end), file=out_handle)
opts = "-j " + remove_lcr_regions(target_bed, items)
return opts
def _scalpel_options_from_config(items, config, out_file, region, tmp_path):
opts = []
# output vcf, report only variants within bed regions
opts += ["--format", "vcf", "--intarget", "--covthr 3", "--lowcov 1"]
variant_regions = utils.get_in(config, ("algorithm", "variant_regions"))
target = subset_variant_regions(variant_regions, region, out_file, items)
if target:
if isinstance(target, basestring) and os.path.isfile(target):
target_bed = target
else:
target_bed = os.path.join(tmp_path, "tmp.bed")
with file_transaction(config, target_bed) as tx_tmp_bed:
if not isinstance(region, (list, tuple)):
message = ("Region must be a tuple - something odd just happened")
raise ValueError(message)
chrom, start, end = region
with open(tx_tmp_bed, "w") as out_handle:
print("%s\t%s\t%s" % (chrom, start, end), file=out_handle)
opts += ["--bed", remove_lcr_regions(target_bed, items)]
resources = config_utils.get_resources("scalpel", config)
if resources.get("options"):
opts += resources["options"]
if "--outratio" not in " ".join(opts):
# add minimum reportable allele frequency, for which Scalpel defaults to 5
# but other somatic tools in bcbio default to 10
min_af = float(utils.get_in(config, ("algorithm",
"min_allele_fraction"), 10)) / 100.0
opts += ["--outratio", str(min_af)]
return opts
def _create_validate_config(vrn_file, rm_file, rm_interval_file, rm_genome,
base_dir, data):
"""Create a bcbio.variation configuration input for validation.
"""
if rm_genome:
rm_genome = utils.get_in(data, ("reference", "alt", rm_genome, "base"))
if rm_genome and rm_genome != utils.get_in(data, ("reference", "fasta", "base")):
eval_genome = utils.get_in(data, ("reference", "fasta", "base"))
else:
rm_genome = utils.get_in(data, ("reference", "fasta", "base"))
eval_genome = None
ref_call = {"file": str(rm_file), "name": "ref", "type": "grading-ref",
"preclean": True, "prep": True, "remove-refcalls": True}
a_intervals = get_analysis_intervals(data)
if a_intervals:
a_intervals = shared.remove_lcr_regions(a_intervals, [data])
if rm_interval_file:
ref_call["intervals"] = rm_interval_file
eval_call = {"file": vrn_file, "name": "eval", "remove-refcalls": True}
if eval_genome:
eval_call["ref"] = eval_genome
eval_call["preclean"] = True
eval_call["prep"] = True
if a_intervals and eval_genome:
eval_call["intervals"] = os.path.abspath(a_intervals)
exp = {"sample": data["name"][-1],
"ref": rm_genome,
"approach": "grade",
"calls": [ref_call, eval_call]}
if a_intervals and not eval_genome:
exp["intervals"] = os.path.abspath(a_intervals)
if data.get("callable_bam") and not eval_genome:
exp["align"] = data["callable_bam"]
return {"dir": {"base": base_dir, "out": "work", "prep": "work/prep"},
"experiments": [exp]}
def _get_merged_intervals(rm_interval_file, vrn_file, base_dir, data):
"""Retrieve intervals to run validation on, merging reference and callable BED files.
"""
a_intervals = get_analysis_intervals(data, vrn_file, base_dir)
if a_intervals:
final_intervals = shared.remove_lcr_regions(a_intervals, [data])
if rm_interval_file:
caller = _get_caller(data)
sample = dd.get_sample_name(data)
combo_intervals = os.path.join(
base_dir, "%s-%s-%s-wrm.bed" % (utils.splitext_plus(
os.path.basename(final_intervals))[0], sample, caller))
if not utils.file_uptodate(combo_intervals, final_intervals):
with file_transaction(data, combo_intervals) as tx_out_file:
with utils.chdir(os.path.dirname(tx_out_file)):
# Copy files locally to avoid issues on shared filesystems
# where BEDtools has trouble accessing the same base
# files from multiple locations
a = os.path.basename(final_intervals)
b = os.path.basename(rm_interval_file)
try:
shutil.copyfile(final_intervals, a)
except IOError:
time.sleep(60)
shutil.copyfile(final_intervals, a)
try:
shutil.copyfile(rm_interval_file, b)
except IOError:
time.sleep(60)
shutil.copyfile(rm_interval_file, b)
cmd = (
"bedtools intersect -nonamecheck -a {a} -b {b} > {tx_out_file}"
)
do.run(cmd.format(**locals()),
"Intersect callable intervals for rtg vcfeval")
final_intervals = combo_intervals
else:
assert rm_interval_file, "No intervals to subset analysis with for %s" % vrn_file
final_intervals = shared.remove_lcr_regions(rm_interval_file, [data])
return final_intervals
def _create_validate_config(vrn_file, rm_file, rm_interval_file, rm_genome,
base_dir, data):
"""Create a bcbio.variation configuration input for validation.
"""
if rm_genome:
rm_genome = utils.get_in(data, ("reference", "alt", rm_genome, "base"))
if rm_genome and rm_genome != utils.get_in(data,
("reference", "fasta", "base")):
eval_genome = utils.get_in(data, ("reference", "fasta", "base"))
else:
rm_genome = utils.get_in(data, ("reference", "fasta", "base"))
eval_genome = None
ref_call = {
"file": str(rm_file),
"name": "ref",
"type": "grading-ref",
"preclean": True,
"prep": True,
"remove-refcalls": True
}
a_intervals = get_analysis_intervals(data)
if a_intervals:
a_intervals = shared.remove_lcr_regions(a_intervals, [data])
if rm_interval_file:
ref_call["intervals"] = rm_interval_file
eval_call = {"file": vrn_file, "name": "eval", "remove-refcalls": True}
if eval_genome:
eval_call["ref"] = eval_genome
eval_call["preclean"] = True
eval_call["prep"] = True
if a_intervals and eval_genome:
eval_call["intervals"] = os.path.abspath(a_intervals)
exp = {
"sample": data["name"][-1],
"ref": rm_genome,
"approach": "grade",
"calls": [ref_call, eval_call]
}
if a_intervals and not eval_genome:
exp["intervals"] = os.path.abspath(a_intervals)
if data.get("align_bam") and not eval_genome:
exp["align"] = data["align_bam"]
elif data.get("work_bam") and not eval_genome:
exp["align"] = data["work_bam"]
return {
"dir": {
"base": base_dir,
"out": "work",
"prep": "work/prep"
},
"experiments": [exp]
}
def _get_merged_intervals(rm_interval_file, base_dir, data):
"""Retrieve intervals to run validation on, merging reference and callable BED files.
"""
a_intervals = get_analysis_intervals(data)
if a_intervals:
final_intervals = shared.remove_lcr_regions(a_intervals, [data])
if rm_interval_file:
caller = _get_caller(data)
sample = dd.get_sample_name(data)
combo_intervals = os.path.join(base_dir, "%s-%s-%s-wrm.bed" %
(utils.splitext_plus(os.path.basename(final_intervals))[0],
sample, caller))
if not utils.file_uptodate(combo_intervals, final_intervals):
with file_transaction(data, combo_intervals) as tx_out_file:
with utils.chdir(os.path.dirname(tx_out_file)):
# Copy files locally to avoid issues on shared filesystems
# where BEDtools has trouble accessing the same base
# files from multiple locations
a = os.path.basename(final_intervals)
b = os.path.basename(rm_interval_file)
try:
shutil.copyfile(final_intervals, a)
except IOError:
time.sleep(60)
shutil.copyfile(final_intervals, a)
try:
shutil.copyfile(rm_interval_file, b)
except IOError:
time.sleep(60)
shutil.copyfile(rm_interval_file, b)
cmd = ("bedtools intersect -nonamecheck -a {a} -b {b} > {tx_out_file}")
do.run(cmd.format(**locals()), "Intersect callable intervals for rtg vcfeval")
final_intervals = combo_intervals
else:
assert rm_interval_file, "No intervals to subset analysis with"
final_intervals = shared.remove_lcr_regions(rm_interval_file, [data])
return final_intervals
def _vardict_options_from_config(items, config, out_file, target=None):
opts = ["-c 1", "-S 2", "-E 3", "-g 4"]
# ["-z", "-F", "-c", "1", "-S", "2", "-E", "3", "-g", "4", "-x", "0",
# "-k", "3", "-r", "4", "-m", "8"]
resources = config_utils.get_resources("vardict", config)
if resources.get("options"):
opts += resources["options"]
assert _is_bed_file(target)
if any(tz.get_in(["config", "algorithm", "coverage_interval"], x, "").lower() == "genome" for x in items):
target = shared.remove_highdepth_regions(target, items)
target = shared.remove_lcr_regions(target, items)
target = _enforce_max_region_size(target, items[0])
opts += [target] # this must be the last option
return opts
def _vardict_options_from_config(items, config, out_file, target=None):
opts = ["-c 1", "-S 2", "-E 3", "-g 4"]
# ["-z", "-F", "-c", "1", "-S", "2", "-E", "3", "-g", "4", "-x", "0",
# "-k", "3", "-r", "4", "-m", "8"]
resources = config_utils.get_resources("vardict", config)
if resources.get("options"):
opts += resources["options"]
assert _is_bed_file(target)
if any(tz.get_in(["config", "algorithm", "coverage_interval"], x, "").lower() == "genome"
for x in items):
target = shared.remove_highdepth_regions(target, items)
target = shared.remove_lcr_regions(target, items)
target = _enforce_max_region_size(target, items[0])
opts += [target] # this must be the last option
return opts
def _get_merged_intervals(rm_interval_file, base_dir, data):
"""Retrieve intervals to run validation on, merging reference and callable BED files.
"""
a_intervals = get_analysis_intervals(data)
if a_intervals:
final_intervals = shared.remove_lcr_regions(a_intervals, [data])
if rm_interval_file:
final_intervals = os.path.join(base_dir, "%s-wrm.bed" %
utils.splitext_plus(os.path.basename(a_intervals))[0])
if not utils.file_uptodate(final_intervals, a_intervals):
with file_transaction(data, final_intervals) as tx_out_file:
pybedtools.BedTool(a_intervals).intersect(rm_interval_file).saveas(tx_out_file)
else:
assert rm_interval_file, "No intervals to subset analysis with"
final_intervals = rm_interval_file
return final_intervals
def _scalpel_bed_file_opts(items, config, out_file, region, tmp_path):
variant_regions = bedutils.population_variant_regions(items)
target = subset_variant_regions(variant_regions, region, out_file, items)
if target:
if isinstance(target, basestring) and os.path.isfile(target):
target_bed = target
else:
target_bed = os.path.join(tmp_path, "tmp.bed")
if not utils.file_exists(target_bed):
with file_transaction(config, target_bed) as tx_tmp_bed:
if not isinstance(region, (list, tuple)):
message = ("Region must be a tuple - something odd just happened")
raise ValueError(message)
chrom, start, end = region
with open(tx_tmp_bed, "w") as out_handle:
print("%s\t%s\t%s" % (chrom, start, end), file=out_handle)
return ["--bed", remove_lcr_regions(target_bed, items)]
else:
return []
def _scalpel_bed_file_opts(items, config, out_file, region, tmp_path):
variant_regions = utils.get_in(config, ("algorithm", "variant_regions"))
target = subset_variant_regions(variant_regions, region, out_file, items)
if target:
if isinstance(target, basestring) and os.path.isfile(target):
target_bed = target
else:
target_bed = os.path.join(tmp_path, "tmp.bed")
if not utils.file_exists(target_bed):
with file_transaction(config, target_bed) as tx_tmp_bed:
if not isinstance(region, (list, tuple)):
message = ("Region must be a tuple - something odd just happened")
raise ValueError(message)
chrom, start, end = region
with open(tx_tmp_bed, "w") as out_handle:
print("%s\t%s\t%s" % (chrom, start, end), file=out_handle)
return ["--bed", remove_lcr_regions(target_bed, items)]
else:
return []
def _vardict_options_from_config(items, config, out_file, region=None, do_merge=False):
opts = ["-c 1", "-S 2", "-E 3", "-g 4"]
# ["-z", "-F", "-c", "1", "-S", "2", "-E", "3", "-g", "4", "-x", "0",
# "-k", "3", "-r", "4", "-m", "8"]
resources = config_utils.get_resources("vardict", config)
if resources.get("options"):
opts += resources["options"]
variant_regions = utils.get_in(config, ("algorithm", "variant_regions"))
target = shared.subset_variant_regions(variant_regions, region, out_file, do_merge=do_merge)
if target:
if isinstance(target, basestring) and os.path.isfile(target):
if any(tz.get_in(["config", "algorithm", "coverage_interval"], x, "").lower() == "genome"
for x in items):
target = shared.remove_highdepth_regions(target, items)
target = shared.remove_lcr_regions(target, items)
target = _enforce_max_region_size(target, items[0])
opts += [target] # this must be the last option
else:
# one-based, end-inclusive coordinates as for Gatk
opts += ["-R", bamprep.region_to_gatk(target)]
return opts
def _create_validate_config(vrn_file, rm_file, rm_interval_file, base_dir, data):
"""Create a bcbio.variation configuration input for validation.
"""
ref_call = {"file": str(rm_file), "name": "ref", "type": "grading-ref",
"fix-sample-header": True, "remove-refcalls": True}
a_intervals = get_analysis_intervals(data)
if a_intervals:
a_intervals = shared.remove_lcr_regions(a_intervals, [data])
if rm_interval_file:
ref_call["intervals"] = rm_interval_file
eval_call = {"file": vrn_file, "name": "eval", "remove-refcalls": True}
exp = {"sample": data["name"][-1],
"ref": dd.get_ref_file(data),
"approach": "grade",
"calls": [ref_call, eval_call]}
if a_intervals:
exp["intervals"] = os.path.abspath(a_intervals)
if data.get("align_bam"):
exp["align"] = data["align_bam"]
elif data.get("work_bam"):
exp["align"] = data["work_bam"]
return {"dir": {"base": base_dir, "out": "work", "prep": "work/prep"},
"experiments": [exp]}
def _create_validate_config(vrn_file, rm_file, rm_interval_file, base_dir, data):
"""Create a bcbio.variation configuration input for validation.
"""
ref_call = {"file": str(rm_file), "name": "ref", "type": "grading-ref",
"fix-sample-header": True, "remove-refcalls": True}
a_intervals = get_analysis_intervals(data, vrn_file, base_dir)
if a_intervals:
a_intervals = shared.remove_lcr_regions(a_intervals, [data])
if rm_interval_file:
ref_call["intervals"] = rm_interval_file
eval_call = {"file": vrn_file, "name": "eval", "remove-refcalls": True}
exp = {"sample": data["name"][-1],
"ref": dd.get_ref_file(data),
"approach": "grade",
"calls": [ref_call, eval_call]}
if a_intervals:
exp["intervals"] = os.path.abspath(a_intervals)
if data.get("align_bam"):
exp["align"] = data["align_bam"]
elif data.get("work_bam"):
exp["align"] = data["work_bam"]
return {"dir": {"base": base_dir, "out": "work", "prep": "work/prep"},
"experiments": [exp]}
def _vardict_options_from_config(items, config, out_file, target=None):
var2vcf_opts = []
opts = ["-c 1", "-S 2", "-E 3", "-g 4"]
# ["-z", "-F", "-c", "1", "-S", "2", "-E", "3", "-g", "4", "-x", "0",
# "-k", "3", "-r", "4", "-m", "8"]
# remove low mapping quality reads
opts += ["-Q", "10"]
# Remove QCfail reads, avoiding high depth repetitive regions
opts += ["-F", "0x700"]
resources = config_utils.get_resources("vardict", config)
if resources.get("options"):
opts += [str(x) for x in resources["options"]]
resources = config_utils.get_resources("var2vcf", config)
if resources.get("options"):
var2vcf_opts += [str(x) for x in resources["options"]]
if target and _is_bed_file(target):
if any(tz.get_in(["config", "algorithm", "coverage_interval"], x, "").lower() == "genome"
for x in items):
target = shared.remove_highdepth_regions(target, items)
target = shared.remove_lcr_regions(target, items)
target = _enforce_max_region_size(target, items[0])
opts += [target] # this must be the last option
return " ".join(opts), " ".join(var2vcf_opts)
