def _run_lumpy(full_bams, sr_bams, disc_bams, previous_evidence, work_dir,
items):
"""Run lumpy-sv, using speedseq pipeline.
"""
batch = sshared.get_cur_batch(items)
ext = "-%s-svs" % batch if batch else "-svs"
out_file = os.path.join(
work_dir, "%s%s.vcf" %
(os.path.splitext(os.path.basename(items[0]["align_bam"]))[0], ext))
sv_exclude_bed = sshared.prepare_exclude_file(items, out_file)
if not utils.file_exists(out_file):
with file_transaction(items[0], out_file) as tx_out_file:
with tx_tmpdir(items[0]) as tmpdir:
full_bams = ",".join(full_bams)
sr_bams = ",".join(sr_bams)
disc_bams = ",".join(disc_bams)
exclude = "-x %s" % sv_exclude_bed if (
sv_exclude_bed
and utils.file_exists(sv_exclude_bed)) else ""
ref_file = dd.get_ref_file(items[0])
depths = []
for sample, ev_files in previous_evidence.items():
for ev_type, ev_file in ev_files.items():
if utils.file_exists(ev_file):
depths.append("%s:%s" % (sample, ev_file))
depth_arg = "-d %s" % ",".join(depths) if len(
depths) > 0 else ""
# use our bcbio python for runs within lumpyexpress
exports = utils.local_path_export()
cmd = (
"{exports}lumpyexpress -v -B {full_bams} -S {sr_bams} -D {disc_bams} "
"{exclude} {depth_arg} -T {tmpdir} -o {tx_out_file}")
do.run(cmd.format(**locals()), "lumpyexpress", items[0])
return vcfutils.sort_by_ref(out_file, items[0]), sv_exclude_bed
def _run_lumpy(full_bams, sr_bams, disc_bams, work_dir, items):
"""Run lumpy-sv, using speedseq pipeline.
"""
batch = sshared.get_cur_batch(items)
ext = "-%s-svs" % batch if batch else "-svs"
out_file = os.path.join(
work_dir, "%s%s.vcf" %
(os.path.splitext(os.path.basename(items[0]["align_bam"]))[0], ext))
sv_exclude_bed = sshared.prepare_exclude_file(items, out_file)
if not utils.file_exists(out_file):
with file_transaction(items[0], out_file) as tx_out_file:
with tx_tmpdir(items[0]) as tmpdir:
full_bams = ",".join(full_bams)
sr_bams = ",".join(sr_bams)
disc_bams = ",".join(disc_bams)
exclude = "-x %s" % sv_exclude_bed if utils.file_exists(
sv_exclude_bed) else ""
ref_file = dd.get_ref_file(items[0])
# use our bcbio python for runs within lumpyexpress
curpython_dir = os.path.dirname(sys.executable)
cmd = (
"export PATH={curpython_dir}:$PATH && "
"lumpyexpress -v -B {full_bams} -S {sr_bams} -D {disc_bams} "
"{exclude} -T {tmpdir} -o {tx_out_file}")
do.run(cmd.format(**locals()), "lumpyexpress", items[0])
return vcfutils.sort_by_ref(out_file, items[0]), sv_exclude_bed
def _run_lumpy(full_bams, sr_bams, disc_bams, previous_evidence, work_dir, items):
"""Run lumpy-sv, using speedseq pipeline.
"""
batch = sshared.get_cur_batch(items)
ext = "-%s-svs" % batch if batch else "-svs"
out_file = os.path.join(work_dir, "%s%s.vcf"
% (os.path.splitext(os.path.basename(items[0]["align_bam"]))[0], ext))
sv_exclude_bed = sshared.prepare_exclude_file(items, out_file)
if not utils.file_exists(out_file):
with file_transaction(items[0], out_file) as tx_out_file:
with tx_tmpdir(items[0]) as tmpdir:
full_bams = ",".join(full_bams)
sr_bams = ",".join(sr_bams)
disc_bams = ",".join(disc_bams)
exclude = "-x %s" % sv_exclude_bed if (sv_exclude_bed and utils.file_exists(sv_exclude_bed)) else ""
ref_file = dd.get_ref_file(items[0])
depths = []
for sample, ev_files in previous_evidence.items():
for ev_type, ev_file in ev_files.items():
if utils.file_exists(ev_file):
depths.append("%s:%s" % (sample, ev_file))
depth_arg = "-d %s" % ",".join(depths) if len(depths) > 0 else ""
# use our bcbio python for runs within lumpyexpress
exports = utils.local_path_export()
cmd = ("{exports}lumpyexpress -v -B {full_bams} -S {sr_bams} -D {disc_bams} "
"{exclude} {depth_arg} -T {tmpdir} -o {tx_out_file}")
do.run(cmd.format(**locals()), "lumpyexpress", items[0])
return vcfutils.sort_by_ref(out_file, items[0]), sv_exclude_bed
def _run_gridss(inputs, background, work_dir):
out_file = os.path.join(work_dir, "%s-gridss.sv.vcf" % (dd.get_batch(inputs[0]) or
dd.get_sample_name(inputs[0])))
if not utils.file_exists(out_file) and not utils.file_exists(out_file + ".gz"):
with file_transaction(inputs[0], out_file) as tx_out_file:
htsjdk_opts = ["-Dsamjdk.create_index=true", "-Dsamjdk.use_async_io_read_samtools=true",
"-Dsamjdk.use_async_io_write_samtools=true", "-Dsamjdk.use_async_io_write_tribble=true"]
cores = dd.get_cores(inputs[0])
resources = config_utils.get_resources("gridss", inputs[0]["config"])
jvm_opts = resources.get("jvm_opts", ["-Xms750m", "-Xmx4g"])
jvm_opts = config_utils.adjust_opts(jvm_opts, {"algorithm": {"memory_adjust":
{"direction": "increase",
"magnitude": cores}}})
jvm_opts = _finalize_memory(jvm_opts)
tx_ref_file = _setup_reference_files(inputs[0], os.path.dirname(tx_out_file))
blacklist_bed = sshared.prepare_exclude_file(inputs + background, out_file)
cmd = ["gridss"] + jvm_opts + htsjdk_opts + ["gridss.CallVariants"] + \
["THREADS=%s" % cores,
"TMP_DIR=%s" % os.path.dirname(tx_out_file), "WORKING_DIR=%s" % os.path.dirname(tx_out_file),
"OUTPUT=%s" % tx_out_file,
"ASSEMBLY=%s" % tx_out_file.replace(".sv.vcf", ".gridss.assembly.bam"),
"REFERENCE_SEQUENCE=%s" % tx_ref_file, "BLACKLIST=%s" % blacklist_bed]
for data in inputs + background:
cmd += ["INPUT=%s" % dd.get_align_bam(data), "INPUT_LABEL=%s" % dd.get_sample_name(data)]
exports = utils.local_path_export()
cmd = exports + " ".join(cmd)
do.run(cmd, "GRIDSS SV analysis")
return vcfutils.bgzip_and_index(out_file, inputs[0]["config"])
def remove_exclude_regions(orig_bed, base_file, items, remove_entire_feature=False):
"""Remove centromere and short end regions from an existing BED file of regions to target.
"""
from bcbio.structural import shared as sshared
out_bed = os.path.join("%s-noexclude.bed" % (utils.splitext_plus(base_file)[0]))
if not utils.file_uptodate(out_bed, orig_bed):
exclude_bed = sshared.prepare_exclude_file(items, base_file)
with file_transaction(items[0], out_bed) as tx_out_bed:
pybedtools.BedTool(orig_bed).subtract(pybedtools.BedTool(exclude_bed),
A=remove_entire_feature, nonamecheck=True).saveas(tx_out_bed)
if utils.file_exists(out_bed):
return out_bed
else:
return orig_bed
def _delly_exclude_file(items, base_file, chrom):
"""Prepare a delly-specific exclude file eliminating chromosomes.
Delly wants excluded chromosomes listed as just the chromosome, with no coordinates.
"""
base_exclude = sshared.prepare_exclude_file(items, base_file, chrom)
out_file = "%s-delly%s" % utils.splitext_plus(base_exclude)
with file_transaction(items[0], out_file) as tx_out_file:
with open(tx_out_file, "w") as out_handle:
with open(base_exclude) as in_handle:
for line in in_handle:
parts = line.split("\t")
if parts[0] == chrom:
out_handle.write(line)
else:
out_handle.write("%s\n" % parts[0])
return out_file
def _delly_exclude_file(items, base_file, chrom):
"""Prepare a delly-specific exclude file eliminating chromosomes.
Delly wants excluded chromosomes listed as just the chromosome, with no coordinates.
"""
base_exclude = sshared.prepare_exclude_file(items, base_file, chrom)
out_file = "%s-delly%s" % utils.splitext_plus(base_exclude)
with file_transaction(items[0], out_file) as tx_out_file:
with open(tx_out_file, "w") as out_handle:
with open(base_exclude) as in_handle:
for line in in_handle:
parts = line.split("\t")
if parts[0] == chrom:
out_handle.write(line)
else:
out_handle.write("%s\n" % parts[0])
return out_file
def _run_gridss(inputs, background, work_dir):
out_file = os.path.join(
work_dir, "%s-gridss.sv.vcf" %
(dd.get_batch(inputs[0]) or dd.get_sample_name(inputs[0])))
if not utils.file_exists(out_file) and not utils.file_exists(out_file +
".gz"):
with file_transaction(inputs[0], out_file) as tx_out_file:
htsjdk_opts = [
"-Dsamjdk.create_index=true",
"-Dsamjdk.use_async_io_read_samtools=true",
"-Dsamjdk.use_async_io_write_samtools=true",
"-Dsamjdk.use_async_io_write_tribble=true"
]
cores = dd.get_cores(inputs[0])
resources = config_utils.get_resources("gridss",
inputs[0]["config"])
jvm_opts = resources.get("jvm_opts", ["-Xms750m", "-Xmx4g"])
jvm_opts = config_utils.adjust_opts(
jvm_opts, {
"algorithm": {
"memory_adjust": {
"direction": "increase",
"magnitude": cores
}
}
})
jvm_opts = _finalize_memory(jvm_opts)
tx_ref_file = _setup_reference_files(inputs[0],
os.path.dirname(tx_out_file))
blacklist_bed = sshared.prepare_exclude_file(
inputs + background, out_file)
cmd = ["gridss"] + jvm_opts + htsjdk_opts + ["gridss.CallVariants"] + \
["THREADS=%s" % cores,
"TMP_DIR=%s" % os.path.dirname(tx_out_file), "WORKING_DIR=%s" % os.path.dirname(tx_out_file),
"OUTPUT=%s" % tx_out_file,
"ASSEMBLY=%s" % tx_out_file.replace(".sv.vcf", ".gridss.assembly.bam"),
"REFERENCE_SEQUENCE=%s" % tx_ref_file, "BLACKLIST=%s" % blacklist_bed]
for data in inputs + background:
cmd += [
"INPUT=%s" % dd.get_align_bam(data),
"INPUT_LABEL=%s" % dd.get_sample_name(data)
]
exports = utils.local_path_export()
cmd = exports + " ".join(cmd)
do.run(cmd, "GRIDSS SV analysis")
return vcfutils.bgzip_and_index(out_file, inputs[0]["config"])
def _run_smoove(full_bams, sr_bams, disc_bams, work_dir, items):
"""Run lumpy-sv using smoove.
"""
batch = sshared.get_cur_batch(items)
ext = "-%s-svs" % batch if batch else "-svs"
name = "%s%s" % (dd.get_sample_name(items[0]), ext)
out_file = os.path.join(work_dir, "%s-smoove.genotyped.vcf.gz" % name)
sv_exclude_bed = sshared.prepare_exclude_file(items, out_file)
old_out_file = os.path.join(work_dir, "%s%s-prep.vcf.gz"
% (os.path.splitext(os.path.basename(items[0]["align_bam"]))[0], ext))
if utils.file_exists(old_out_file):
return old_out_file, sv_exclude_bed
if not utils.file_exists(out_file):
with file_transaction(items[0], out_file) as tx_out_file:
cores = dd.get_num_cores(items[0])
out_dir = os.path.dirname(tx_out_file)
ref_file = dd.get_ref_file(items[0])
full_bams = " ".join(_prepare_smoove_bams(full_bams, sr_bams, disc_bams, items,
os.path.dirname(tx_out_file)))
std_excludes = ["~^GL", "~^HLA", "~_random", "~^chrUn", "~alt", "~decoy"]
def _is_std_exclude(n):
clean_excludes = [x.replace("~", "").replace("^", "") for x in std_excludes]
return any([n.startswith(x) or n.endswith(x) for x in clean_excludes])
exclude_chrs = [c.name for c in ref.file_contigs(ref_file)
if not chromhacks.is_nonalt(c.name) and not _is_std_exclude(c.name)]
exclude_chrs = "--excludechroms '%s'" % ",".join(std_excludes + exclude_chrs)
exclude_bed = ("--exclude %s" % sv_exclude_bed) if utils.file_exists(sv_exclude_bed) else ""
tempdir = os.path.dirname(tx_out_file)
cmd = ("export TMPDIR={tempdir} && "
"smoove call --processes {cores} --genotype --removepr --fasta {ref_file} "
"--name {name} --outdir {out_dir} "
"{exclude_bed} {exclude_chrs} {full_bams}")
with utils.chdir(tempdir):
try:
do.run(cmd.format(**locals()), "smoove lumpy calling", items[0])
except subprocess.CalledProcessError as msg:
if _allowed_errors(str(msg)):
vcfutils.write_empty_vcf(tx_out_file, config=items[0]["config"],
samples=[dd.get_sample_name(d) for d in items])
else:
logger.exception()
raise
vcfutils.bgzip_and_index(out_file, items[0]["config"])
return out_file, sv_exclude_bed
def _run_smoove(full_bams, sr_bams, disc_bams, work_dir, items):
"""Run lumpy-sv using smoove.
"""
batch = sshared.get_cur_batch(items)
ext = "-%s-svs" % batch if batch else "-svs"
name = "%s%s" % (dd.get_sample_name(items[0]), ext)
out_file = os.path.join(work_dir, "%s-smoove.genotyped.vcf.gz" % name)
sv_exclude_bed = sshared.prepare_exclude_file(items, out_file)
old_out_file = os.path.join(work_dir, "%s%s-prep.vcf.gz"
% (os.path.splitext(os.path.basename(items[0]["align_bam"]))[0], ext))
if utils.file_exists(old_out_file):
return old_out_file, sv_exclude_bed
if not utils.file_exists(out_file):
with file_transaction(items[0], out_file) as tx_out_file:
cores = dd.get_num_cores(items[0])
out_dir = os.path.dirname(tx_out_file)
ref_file = dd.get_ref_file(items[0])
full_bams = " ".join(_prepare_smoove_bams(full_bams, sr_bams, disc_bams, items,
os.path.dirname(tx_out_file)))
std_excludes = ["~^GL", "~^HLA", "~_random", "~^chrUn", "~alt", "~decoy"]
def _is_std_exclude(n):
clean_excludes = [x.replace("~", "").replace("^", "") for x in std_excludes]
return any([n.startswith(x) or n.endswith(x) for x in clean_excludes])
exclude_chrs = [c.name for c in ref.file_contigs(ref_file)
if not chromhacks.is_nonalt(c.name) and not _is_std_exclude(c.name)]
exclude_chrs = "--excludechroms '%s'" % ",".join(std_excludes + exclude_chrs)
exclude_bed = ("--exclude %s" % sv_exclude_bed) if utils.file_exists(sv_exclude_bed) else ""
tempdir = os.path.dirname(tx_out_file)
cmd = ("export TMPDIR={tempdir} && "
"smoove call --processes {cores} --genotype --removepr --fasta {ref_file} "
"--name {name} --outdir {out_dir} "
"{exclude_bed} {exclude_chrs} {full_bams}")
with utils.chdir(tempdir):
try:
do.run(cmd.format(**locals()), "smoove lumpy calling", items[0])
except subprocess.CalledProcessError as msg:
if _allowed_errors(msg):
vcfutils.write_empty_vcf(tx_out_file, config=items[0]["config"],
samples=[dd.get_sample_name(d) for d in items])
else:
logger.exception()
raise
vcfutils.bgzip_and_index(out_file, items[0]["config"])
return out_file, sv_exclude_bed
def _run_lumpy(full_bams, sr_bams, disc_bams, work_dir, items):
"""Run lumpy-sv, using speedseq pipeline.
"""
batch = sshared.get_cur_batch(items)
ext = "-%s-svs" % batch if batch else "-svs"
out_file = os.path.join(work_dir, "%s%s.sv.bedpe"
% (os.path.splitext(os.path.basename(items[0]["align_bam"]))[0], ext))
sv_exclude_bed = sshared.prepare_exclude_file(items, out_file)
if not utils.file_exists(out_file):
with file_transaction(out_file) as tx_out_file:
with utils.curdir_tmpdir(items[0]) as tmpdir:
out_base = tx_out_file.replace(".sv.bedpe", "")
full_bams = ",".join(full_bams)
sr_bams = ",".join(sr_bams)
disc_bams = ",".join(disc_bams)
exclude = "-x %s" % sv_exclude_bed if sv_exclude_bed else ""
ref_file = dd.get_ref_file(items[0])
cmd = ("speedseq sv -v -B {full_bams} -S {sr_bams} -D {disc_bams} -R {ref_file} "
"{exclude} -A false -T {tmpdir} -o {out_base}")
do.run(cmd.format(**locals()), "speedseq lumpy", items[0])
return out_file, sv_exclude_bed
def _run_lumpy(full_bams, sr_bams, disc_bams, work_dir, items):
"""Run lumpy-sv, using speedseq pipeline.
"""
batch = sshared.get_cur_batch(items)
ext = "-%s-svs" % batch if batch else "-svs"
out_file = os.path.join(work_dir, "%s%s.sv.bedpe"
% (os.path.splitext(os.path.basename(items[0]["align_bam"]))[0], ext))
sv_exclude_bed = sshared.prepare_exclude_file(items, out_file)
if not utils.file_exists(out_file):
with file_transaction(items[0], out_file) as tx_out_file:
with tx_tmpdir(items[0]) as tmpdir:
out_base = tx_out_file.replace(".sv.bedpe", "")
full_bams = ",".join(full_bams)
sr_bams = ",".join(sr_bams)
disc_bams = ",".join(disc_bams)
exclude = "-x %s" % sv_exclude_bed if sv_exclude_bed else ""
ref_file = dd.get_ref_file(items[0])
cmd = ("speedseq sv -v -B {full_bams} -S {sr_bams} -D {disc_bams} -R {ref_file} "
"{exclude} -A false -T {tmpdir} -o {out_base}")
do.run(cmd.format(**locals()), "speedseq lumpy", items[0])
return out_file, sv_exclude_bed
def _run_lumpy(full_bams, sr_bams, disc_bams, work_dir, items):
"""Run lumpy-sv, using speedseq pipeline.
"""
batch = sshared.get_cur_batch(items)
ext = "-%s-svs" % batch if batch else "-svs"
out_file = os.path.join(work_dir, "%s%s.vcf"
% (os.path.splitext(os.path.basename(items[0]["align_bam"]))[0], ext))
sv_exclude_bed = sshared.prepare_exclude_file(items, out_file)
if not utils.file_exists(out_file):
with file_transaction(items[0], out_file) as tx_out_file:
with tx_tmpdir(items[0]) as tmpdir:
full_bams = ",".join(full_bams)
sr_bams = ",".join(sr_bams)
disc_bams = ",".join(disc_bams)
exclude = "-x %s" % sv_exclude_bed if utils.file_exists(sv_exclude_bed) else ""
ref_file = dd.get_ref_file(items[0])
# use our bcbio python for runs within lumpyexpress
curpython_dir = os.path.dirname(sys.executable)
cmd = ("export PATH={curpython_dir}:$PATH && "
"lumpyexpress -v -B {full_bams} -S {sr_bams} -D {disc_bams} "
"{exclude} -T {tmpdir} -o {tx_out_file}")
do.run(cmd.format(**locals()), "lumpyexpress", items[0])
return vcfutils.sort_by_ref(out_file, items[0]), sv_exclude_bed
def _get_full_exclude_file(items, work_bams, work_dir):
base_file = os.path.join(
work_dir,
"%s-svs" % (os.path.splitext(os.path.basename(work_bams[0]))[0]))
return sshared.prepare_exclude_file(items, base_file)
def _get_full_exclude_file(items, work_dir):
base_file = os.path.join(work_dir, "%s-svs" % (os.path.splitext(os.path.basename(items[0]["work_bam"]))[0]))
return sshared.prepare_exclude_file(items, base_file)
