def _call_variants_samtools(align_bams, ref_file, items, target_regions, out_file):
"""Call variants with samtools in target_regions.
Works around a GATK VCF compatibility issue in samtools 0.20 by removing extra
Version information from VCF header lines.
"""
config = items[0]["config"]
max_read_depth = "1000"
mpileup = prep_mpileup(align_bams, ref_file, max_read_depth, config,
target_regions=target_regions)
bcftools = config_utils.get_program("bcftools", config)
bcftools_version = programs.get_version("bcftools", config=config)
samtools_version = programs.get_version("samtools", config=config)
if LooseVersion(bcftools_version) > LooseVersion("0.1.19"):
if LooseVersion(samtools_version) <= LooseVersion("0.1.19"):
raise ValueError("samtools calling not supported with 0.1.19 samtools and 0.20 bcftools")
bcftools_opts = "call -v -c"
else:
bcftools_opts = "view -v -c -g"
compress_cmd = "| bgzip -c" if out_file.endswith("gz") else ""
vcfutils = config_utils.get_program("vcfutils.pl", config)
# XXX Check if we need this when supporting samtools 0.2.0 calling.
# 0.1.9 fails on regions without reads.
if not any(realign.has_aligned_reads(x, target_regions) for x in align_bams):
vcfutils.write_empty_vcf(out_file, config)
else:
cmd = ("{mpileup} "
"| {bcftools} {bcftools_opts} - "
"| {vcfutils} varFilter -D {max_read_depth} "
"| sed 's/,Version=3>/>/'"
"{compress_cmd} > {out_file}")
logger.info(cmd.format(**locals()))
do.run(cmd.format(**locals()), "Variant calling with samtools", {})
def _call_variants_samtools(align_bams, ref_file, items, target_regions, tx_out_file):
"""Call variants with samtools in target_regions.
Works around a GATK VCF 4.2 compatibility issue in samtools 1.0
by removing addition 4.2-only isms from VCF header lines.
"""
config = items[0]["config"]
mpileup = prep_mpileup(align_bams, ref_file, config,
target_regions=target_regions, want_bcf=True)
bcftools = config_utils.get_program("bcftools", config)
bcftools_version = programs.get_version("bcftools", config=config)
samtools_version = programs.get_version("samtools", config=config)
if LooseVersion(samtools_version) <= LooseVersion("0.1.19"):
raise ValueError("samtools calling not supported with pre-1.0 samtools")
bcftools_opts = "call -v -m"
compress_cmd = "| bgzip -c" if tx_out_file.endswith(".gz") else ""
cmd = ("{mpileup} "
"| {bcftools} {bcftools_opts} - "
"| vt normalize -n -q -r {ref_file} - "
"| sed 's/VCFv4.2/VCFv4.1/' "
"| sed 's/,Version=3>/>/' "
"| sed 's/,Version=\"3\">/>/' "
"| sed 's/Number=R/Number=./' "
"{compress_cmd} > {tx_out_file}")
do.run(cmd.format(**locals()), "Variant calling with samtools", items[0])
def _call_variants_samtools(align_bams, ref_file, items, target_regions, tx_out_file):
"""Call variants with samtools in target_regions.
Works around a GATK VCF 4.2 compatibility issue in samtools 1.0
by removing addition 4.2-only isms from VCF header lines.
"""
config = items[0]["config"]
mpileup = prep_mpileup(align_bams, ref_file, config,
target_regions=target_regions, want_bcf=True)
bcftools = config_utils.get_program("bcftools", config)
bcftools_version = programs.get_version("bcftools", config=config)
samtools_version = programs.get_version("samtools", config=config)
if LooseVersion(samtools_version) <= LooseVersion("0.1.19"):
raise ValueError("samtools calling not supported with pre-1.0 samtools")
bcftools_opts = "call -v -m"
compress_cmd = "| bgzip -c" if tx_out_file.endswith(".gz") else ""
cmd = ("{mpileup} "
"| {bcftools} {bcftools_opts} - "
"| vt normalize -n -q -r {ref_file} - "
"| sed 's/VCFv4.2/VCFv4.1/' "
"| sed 's/,Version=3>/>/' "
"| sed 's/,Version=\"3\">/>/' "
"| sed 's/Number=R/Number=./' "
"{compress_cmd} > {tx_out_file}")
do.run(cmd.format(**locals()), "Variant calling with samtools", items[0])
def _call_variants_samtools(align_bams, ref_file, items, target_regions, out_file):
"""Call variants with samtools in target_regions.
Works around a GATK VCF compatibility issue in samtools 0.20 by removing extra
Version information from VCF header lines.
"""
config = items[0]["config"]
max_read_depth = "1000"
mpileup = prep_mpileup(align_bams, ref_file, max_read_depth, config,
target_regions=target_regions)
bcftools = config_utils.get_program("bcftools", config)
bcftools_version = programs.get_version("bcftools", config=config)
samtools_version = programs.get_version("samtools", config=config)
if LooseVersion(bcftools_version) > LooseVersion("0.1.19"):
if LooseVersion(samtools_version) <= LooseVersion("0.1.19"):
raise ValueError("samtools calling not supported with 0.1.19 samtools and 0.20 bcftools")
bcftools_opts = "call -v -c"
else:
bcftools_opts = "view -v -c -g"
vcfutils = config_utils.get_program("vcfutils.pl", config)
cmd = ("{mpileup} "
"| {bcftools} {bcftools_opts} - "
"| {vcfutils} varFilter -D {max_read_depth} "
"| sed 's/,Version=3>/>/'"
"> {out_file}")
logger.info(cmd.format(**locals()))
do.run(cmd.format(**locals()), "Variant calling with samtools", {})
def _freebayes_custom(in_file, ref_file, data):
"""Custom FreeBayes filtering using bcbio.variation, tuned to human NA12878 results.
Experimental: for testing new methods.
"""
if vcfutils.get_paired_phenotype(data):
return None
config = data["config"]
bv_ver = programs.get_version("bcbio_variation", config=config)
if LooseVersion(bv_ver) < LooseVersion("0.1.1"):
return None
out_file = "%s-filter%s" % os.path.splitext(in_file)
if not utils.file_exists(out_file):
tmp_dir = utils.safe_makedir(
os.path.join(os.path.dirname(in_file), "tmp"))
bv_jar = config_utils.get_jar(
"bcbio.variation",
config_utils.get_program("bcbio_variation", config, "dir"))
resources = config_utils.get_resources("bcbio_variation", config)
jvm_opts = resources.get("jvm_opts", ["-Xms750m", "-Xmx2g"])
java_args = ["-Djava.io.tmpdir=%s" % tmp_dir]
cmd = ["java"] + jvm_opts + java_args + [
"-jar", bv_jar, "variant-filter", "freebayes", in_file, ref_file
]
do.run(cmd, "Custom FreeBayes filtering using bcbio.variation")
return out_file
def prep_gemini_db(fnames, call_id, samples, data):
"""Prepare a gemini database from VCF inputs prepared with snpEff.
"""
out_dir = utils.safe_makedir(os.path.join(data["dirs"]["work"], "gemini"))
gemini_db = os.path.join(out_dir, "-".join(call_id) + ".db")
use_gemini = _do_db_build(samples) and any(
vcfutils.vcf_has_variants(f) for f in fnames)
is_population = len(fnames) > 1
if is_population:
name, caller = call_id
gemini_vcf = get_multisample_vcf(fnames, name, caller, data)
else:
gemini_vcf = fnames[0]
if use_gemini and not utils.file_exists(gemini_db):
with file_transaction(gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
gemini_ver = programs.get_version("gemini", config=data["config"])
# Recent versions of gemini allow loading only passing variants
if LooseVersion(gemini_ver) > LooseVersion("0.6.2.1"):
load_opts = "--passonly"
else:
load_opts = ""
num_cores = data["config"]["algorithm"].get("num_cores", 1)
cmd = "{gemini} load {load_opts} -v {gemini_vcf} -t snpEff --cores {num_cores} {tx_gemini_db}"
cmd = cmd.format(**locals())
do.run(cmd, "Create gemini database for %s" % str(call_id), data)
return [[
call_id, {
"db": gemini_db if use_gemini else None,
"vcf": gemini_vcf if is_population else None
}
]]
def prep_gemini_db(fnames, call_info, samples):
"""Prepare a gemini database from VCF inputs prepared with snpEff.
"""
data = samples[0]
out_dir = utils.safe_makedir(os.path.join(data["dirs"]["work"], "gemini"))
name, caller, is_batch = call_info
gemini_db = os.path.join(out_dir, "%s-%s.db" % (name, caller))
gemini_vcf = get_multisample_vcf(fnames, name, caller, data)
use_gemini_quick = (do_db_build(samples, check_gemini=False) and
any(vcfutils.vcf_has_variants(f) for f in fnames))
if not utils.file_exists(gemini_db) and use_gemini_quick:
use_gemini = do_db_build(samples) and any(vcfutils.vcf_has_variants(f) for f in fnames)
if use_gemini:
with file_transaction(gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
if "program_versions" in data["config"].get("resources", {}):
gemini_ver = programs.get_version("gemini", config=data["config"])
else:
gemini_ver = None
# Recent versions of gemini allow loading only passing variants
load_opts = ""
if not gemini_ver or LooseVersion(gemini_ver) > LooseVersion("0.6.2.1"):
load_opts += " --passonly"
# For small test files, skip gene table loading which takes a long time
if gemini_ver and LooseVersion(gemini_ver) > LooseVersion("0.6.4"):
if _is_small_vcf(gemini_vcf):
load_opts += " --skip-gene-tables"
if "/test_automated_output/" in gemini_vcf:
load_opts += " --test-mode"
num_cores = data["config"]["algorithm"].get("num_cores", 1)
cmd = "{gemini} load {load_opts} -v {gemini_vcf} -t snpEff --cores {num_cores} {tx_gemini_db}"
cmd = cmd.format(**locals())
do.run(cmd, "Create gemini database for %s %s" % (name, caller), data)
return [[(name, caller), {"db": gemini_db if utils.file_exists(gemini_db) else None,
"vcf": gemini_vcf if is_batch else None}]]
def prep_gemini_db(fnames, call_id, samples, data):
"""Prepare a gemini database from VCF inputs prepared with snpEff.
"""
out_dir = utils.safe_makedir(os.path.join(data["dirs"]["work"], "gemini"))
gemini_db = os.path.join(out_dir, "-".join(call_id) + ".db")
use_gemini = _do_db_build(samples) and any(vcfutils.vcf_has_variants(f) for f in fnames)
is_population = len(fnames) > 1
if is_population:
name, caller = call_id
gemini_vcf = get_multisample_vcf(fnames, name, caller, data)
else:
gemini_vcf = fnames[0]
if use_gemini and not utils.file_exists(gemini_db):
with file_transaction(gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
gemini_ver = programs.get_version("gemini", config=data["config"])
# Recent versions of gemini allow loading only passing variants
if LooseVersion(gemini_ver) > LooseVersion("0.6.2.1"):
load_opts = "--passonly"
else:
load_opts = ""
num_cores = data["config"]["algorithm"].get("num_cores", 1)
cmd = "{gemini} load {load_opts} -v {gemini_vcf} -t snpEff --cores {num_cores} {tx_gemini_db}"
cmd = cmd.format(**locals())
do.run(cmd, "Create gemini database for %s" % str(call_id), data)
return [[call_id, {"db": gemini_db if use_gemini else None,
"vcf": gemini_vcf if is_population else None}]]
def prep_gemini_db(fnames, call_info, samples):
"""Prepare a gemini database from VCF inputs prepared with snpEff.
"""
data = samples[0]
out_dir = utils.safe_makedir(os.path.join(data["dirs"]["work"], "gemini"))
name, caller, is_batch = call_info
gemini_db = os.path.join(out_dir, "%s-%s.db" % (name, caller))
gemini_vcf = get_multisample_vcf(fnames, name, caller, data)
use_gemini_quick = (do_db_build(samples, check_gemini=False)
and any(vcfutils.vcf_has_variants(f) for f in fnames))
if not utils.file_exists(gemini_db) and use_gemini_quick:
use_gemini = do_db_build(samples) and any(
vcfutils.vcf_has_variants(f) for f in fnames)
if use_gemini:
with file_transaction(data, gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
if "program_versions" in data["config"].get("resources", {}):
gemini_ver = programs.get_version("gemini",
config=data["config"])
else:
gemini_ver = None
# Recent versions of gemini allow loading only passing variants
load_opts = ""
if not gemini_ver or LooseVersion(gemini_ver) > LooseVersion(
"0.6.2.1"):
load_opts += " --passonly"
# For small test files, skip gene table loading which takes a long time
if gemini_ver and LooseVersion(gemini_ver) > LooseVersion(
"0.6.4"):
if _is_small_vcf(gemini_vcf):
load_opts += " --skip-gene-tables"
if "/test_automated_output/" in gemini_vcf:
load_opts += " --test-mode"
# Skip CADD or gerp-bp if neither are loaded
if gemini_ver and LooseVersion(gemini_ver) >= LooseVersion(
"0.7.0"):
gemini_dir = install.get_gemini_dir()
for skip_cmd, check_file in [
("--skip-cadd", "whole_genome_SNVs.tsv.compressed.gz")
]:
if not os.path.exists(
os.path.join(gemini_dir, check_file)):
load_opts += " %s" % skip_cmd
# skip gerp-bp which slows down loading
load_opts += " --skip-gerp-bp "
num_cores = data["config"]["algorithm"].get("num_cores", 1)
eanns = ("snpEff" if tz.get_in(
("config", "algorithm",
"effects"), data, "snpeff") == "snpeff" else "VEP")
cmd = "{gemini} load {load_opts} -v {gemini_vcf} -t {eanns} --cores {num_cores} {tx_gemini_db}"
cmd = cmd.format(**locals())
do.run(cmd,
"Create gemini database for %s %s" % (name, caller),
data)
return [[(name, caller), {
"db": gemini_db if utils.file_exists(gemini_db) else None,
"vcf": gemini_vcf if is_batch else None
}]]
def _call_variants_samtools(align_bams, ref_file, items, target_regions,
out_file):
"""Call variants with samtools in target_regions.
Works around a GATK VCF compatibility issue in samtools 0.20 by removing extra
Version information from VCF header lines.
"""
config = items[0]["config"]
max_read_depth = "1000"
mpileup = prep_mpileup(align_bams,
ref_file,
max_read_depth,
config,
target_regions=target_regions)
bcftools = config_utils.get_program("bcftools", config)
bcftools_version = programs.get_version("bcftools", config=config)
samtools_version = programs.get_version("samtools", config=config)
if LooseVersion(bcftools_version) > LooseVersion("0.1.19"):
if LooseVersion(samtools_version) <= LooseVersion("0.1.19"):
raise ValueError(
"samtools calling not supported with 0.1.19 samtools and 0.20 bcftools"
)
bcftools_opts = "call -v -c"
else:
bcftools_opts = "view -v -c -g"
compress_cmd = "| bgzip -c" if out_file.endswith("gz") else ""
vcfutils = config_utils.get_program("vcfutils.pl", config)
# XXX Check if we need this when supporting samtools 0.2.0 calling.
# 0.1.9 fails on regions without reads.
if not any(
realign.has_aligned_reads(x, target_regions) for x in align_bams):
vcfutils.write_empty_vcf(out_file, config)
else:
cmd = ("{mpileup} "
"| {bcftools} {bcftools_opts} - "
"| {vcfutils} varFilter -D {max_read_depth} "
"| sed 's/,Version=3>/>/'"
"{compress_cmd} > {out_file}")
logger.info(cmd.format(**locals()))
do.run(cmd.format(**locals()), "Variant calling with samtools", {})
def _set_default_versions(self, config):
"""Retrieve pre-computed version information for expensive to retrieve versions.
Starting up GATK takes a lot of resources so we do it once at start of analysis.
"""
out = []
for name in ["gatk", "picard"]:
try:
v = programs.get_version(name, config=config)
except KeyError:
v = None
out.append(v)
self._gatk_version, self._picard_version = out
def _set_default_versions(self, config):
"""Retrieve pre-computed version information for expensive to retrieve versions.
Starting up GATK takes a lot of resources so we do it once at start of analysis.
"""
out = []
for name in ["gatk", "picard", "mutect"]:
try:
v = programs.get_version(name, config=config)
except KeyError:
v = None
out.append(v)
self._gatk_version, self._picard_version, self._mutect_version = out
def create_gemini_db(gemini_vcf, data, gemini_db=None, ped_file=None):
if not gemini_db:
gemini_db = "%s.db" % utils.splitext_plus(gemini_vcf)[0]
if not utils.file_exists(gemini_db):
if not vcfutils.vcf_has_variants(gemini_vcf):
return None
with file_transaction(data, gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
if "program_versions" in data["config"].get("resources", {}):
gemini_ver = programs.get_version("gemini",
config=data["config"])
else:
gemini_ver = None
# Recent versions of gemini allow loading only passing variants
load_opts = ""
if not gemini_ver or LooseVersion(gemini_ver) > LooseVersion(
"0.6.2.1"):
load_opts += " --passonly"
# For small test files, skip gene table loading which takes a long time
if gemini_ver and LooseVersion(gemini_ver) > LooseVersion("0.6.4"):
if _is_small_vcf(gemini_vcf):
load_opts += " --skip-gene-tables"
if "/test_automated_output/" in gemini_vcf:
load_opts += " --test-mode"
# Skip CADD or gerp-bp if neither are loaded
if gemini_ver and LooseVersion(gemini_ver) >= LooseVersion(
"0.7.0"):
gemini_dir = install.get_gemini_dir(data)
for skip_cmd, check_file in [
("--skip-cadd", "whole_genome_SNVs.tsv.compressed.gz")
]:
if not os.path.exists(os.path.join(gemini_dir,
check_file)):
load_opts += " %s" % skip_cmd
# skip gerp-bp which slows down loading
load_opts += " --skip-gerp-bp "
num_cores = data["config"]["algorithm"].get("num_cores", 1)
tmpdir = os.path.dirname(tx_gemini_db)
eanns = _get_effects_flag(data)
# Apply custom resource specifications, allowing use of alternative annotation_dir
resources = config_utils.get_resources("gemini", data["config"])
gemini_opts = " ".join([str(x) for x in resources["options"]
]) if resources.get("options") else ""
cmd = (
"{gemini} {gemini_opts} load {load_opts} -v {gemini_vcf} {eanns} --cores {num_cores} "
"--tempdir {tmpdir} {tx_gemini_db}")
cmd = cmd.format(**locals())
do.run(cmd, "Create gemini database for %s" % gemini_vcf, data)
if ped_file:
cmd = [gemini, "amend", "--sample", ped_file, tx_gemini_db]
do.run(cmd, "Add PED file to gemini database", data)
return gemini_db
def prep_gemini_db(fnames, call_info, samples):
"""Prepare a gemini database from VCF inputs prepared with snpEff.
"""
data = samples[0]
out_dir = utils.safe_makedir(os.path.join(data["dirs"]["work"], "gemini"))
name, caller, is_batch = call_info
gemini_db = os.path.join(out_dir, "%s-%s.db" % (name, caller))
gemini_vcf = get_multisample_vcf(fnames, name, caller, data)
use_gemini_quick = do_db_build(samples, check_gemini=False) and any(vcfutils.vcf_has_variants(f) for f in fnames)
if not utils.file_exists(gemini_db) and use_gemini_quick:
use_gemini = do_db_build(samples) and any(vcfutils.vcf_has_variants(f) for f in fnames)
if use_gemini:
with file_transaction(data, gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
if "program_versions" in data["config"].get("resources", {}):
gemini_ver = programs.get_version("gemini", config=data["config"])
else:
gemini_ver = None
# Recent versions of gemini allow loading only passing variants
load_opts = ""
if not gemini_ver or LooseVersion(gemini_ver) > LooseVersion("0.6.2.1"):
load_opts += " --passonly"
# For small test files, skip gene table loading which takes a long time
if gemini_ver and LooseVersion(gemini_ver) > LooseVersion("0.6.4"):
if _is_small_vcf(gemini_vcf):
load_opts += " --skip-gene-tables"
if "/test_automated_output/" in gemini_vcf:
load_opts += " --test-mode"
# Skip CADD or gerp-bp if neither are loaded
if gemini_ver and LooseVersion(gemini_ver) >= LooseVersion("0.7.0"):
gemini_dir = install.get_gemini_dir()
for skip_cmd, check_file in [
("--skip-cadd", "whole_genome_SNVs.tsv.compressed.gz"),
("--skip-gerp-bp", "hg19.gerp.bw"),
]:
if not os.path.exists(os.path.join(gemini_dir, check_file)):
load_opts += " %s" % skip_cmd
num_cores = data["config"]["algorithm"].get("num_cores", 1)
eanns = "snpEff" if tz.get_in(("config", "algorithm", "effects"), data, "snpeff") == "snpeff" else "VEP"
cmd = "{gemini} load {load_opts} -v {gemini_vcf} -t {eanns} --cores {num_cores} {tx_gemini_db}"
cmd = cmd.format(**locals())
do.run(cmd, "Create gemini database for %s %s" % (name, caller), data)
return [
[
(name, caller),
{"db": gemini_db if utils.file_exists(gemini_db) else None, "vcf": gemini_vcf if is_batch else None},
]
]
def _freebayes_custom(in_file, ref_file, config):
"""Custom FreeBayes filtering using bcbio.variation, tuned to human NA12878 results.
"""
bv_ver = programs.get_version("bcbio.variation", config=config)
if LooseVersion(bv_ver) < LooseVersion("0.1.1"):
return None
out_file = "%s-filter%s" % os.path.splitext(in_file)
if not utils.file_exists(out_file):
tmp_dir = utils.safe_makedir(os.path.join(os.path.dirname(in_file), "tmp"))
bv_jar = config_utils.get_jar("bcbio.variation",
config_utils.get_program("bcbio_variation", config, "dir"))
resources = config_utils.get_resources("bcbio_variation", config)
jvm_opts = resources.get("jvm_opts", ["-Xms750m", "-Xmx2g"])
java_args = ["-Djava.io.tmpdir=%s" % tmp_dir]
cmd = ["java"] + jvm_opts + java_args + ["-jar", bv_jar, "variant-filter", "freebayes",
in_file, ref_file]
do.run(cmd, "Custom FreeBayes filtering using bcbio.variation")
return out_file
def create_gemini_db(gemini_vcf, data, gemini_db=None):
if not gemini_db:
gemini_db = "%s.db" % utils.splitext_plus(gemini_vcf)[0]
if not utils.file_exists(gemini_db):
if not vcfutils.vcf_has_variants(gemini_vcf):
return None
with file_transaction(data, gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
if "program_versions" in data["config"].get("resources", {}):
gemini_ver = programs.get_version("gemini",
config=data["config"])
else:
gemini_ver = None
# Recent versions of gemini allow loading only passing variants
load_opts = ""
if not gemini_ver or LooseVersion(gemini_ver) > LooseVersion(
"0.6.2.1"):
load_opts += " --passonly"
# For small test files, skip gene table loading which takes a long time
if gemini_ver and LooseVersion(gemini_ver) > LooseVersion("0.6.4"):
if _is_small_vcf(gemini_vcf):
load_opts += " --skip-gene-tables"
if "/test_automated_output/" in gemini_vcf:
load_opts += " --test-mode"
# Skip CADD or gerp-bp if neither are loaded
if gemini_ver and LooseVersion(gemini_ver) >= LooseVersion(
"0.7.0"):
gemini_dir = install.get_gemini_dir()
for skip_cmd, check_file in [
("--skip-cadd", "whole_genome_SNVs.tsv.compressed.gz")
]:
if not os.path.exists(os.path.join(gemini_dir,
check_file)):
load_opts += " %s" % skip_cmd
# skip gerp-bp which slows down loading
load_opts += " --skip-gerp-bp "
num_cores = data["config"]["algorithm"].get("num_cores", 1)
eanns = ("snpEff" if tz.get_in(
("config", "algorithm",
"effects"), data, "snpeff") == "snpeff" else "VEP")
cmd = "{gemini} load {load_opts} -v {gemini_vcf} -t {eanns} --cores {num_cores} {tx_gemini_db}"
cmd = cmd.format(**locals())
do.run(cmd, "Create gemini database for %s" % gemini_vcf, data)
return gemini_db
def create_gemini_db(gemini_vcf, data, gemini_db=None, ped_file=None):
if not gemini_db:
gemini_db = "%s.db" % utils.splitext_plus(gemini_vcf)[0]
if not utils.file_exists(gemini_db):
if not vcfutils.vcf_has_variants(gemini_vcf):
return None
with file_transaction(data, gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
if "program_versions" in data["config"].get("resources", {}):
gemini_ver = programs.get_version("gemini", config=data["config"])
else:
gemini_ver = None
# Recent versions of gemini allow loading only passing variants
load_opts = ""
if not gemini_ver or LooseVersion(gemini_ver) > LooseVersion("0.6.2.1"):
load_opts += " --passonly"
# For small test files, skip gene table loading which takes a long time
if gemini_ver and LooseVersion(gemini_ver) > LooseVersion("0.6.4"):
if _is_small_vcf(gemini_vcf):
load_opts += " --skip-gene-tables"
if "/test_automated_output/" in gemini_vcf:
load_opts += " --test-mode"
# Skip CADD or gerp-bp if neither are loaded
if gemini_ver and LooseVersion(gemini_ver) >= LooseVersion("0.7.0"):
gemini_dir = install.get_gemini_dir(data)
for skip_cmd, check_file in [("--skip-cadd", "whole_genome_SNVs.tsv.compressed.gz")]:
if not os.path.exists(os.path.join(gemini_dir, check_file)):
load_opts += " %s" % skip_cmd
# skip gerp-bp which slows down loading
load_opts += " --skip-gerp-bp "
num_cores = data["config"]["algorithm"].get("num_cores", 1)
tmpdir = os.path.dirname(tx_gemini_db)
eanns = _get_effects_flag(data)
# Apply custom resource specifications, allowing use of alternative annotation_dir
resources = config_utils.get_resources("gemini", data["config"])
gemini_opts = " ".join([str(x) for x in resources["options"]]) if resources.get("options") else ""
cmd = ("{gemini} {gemini_opts} load {load_opts} -v {gemini_vcf} {eanns} --cores {num_cores} "
"--tempdir {tmpdir} {tx_gemini_db}")
cmd = cmd.format(**locals())
do.run(cmd, "Create gemini database for %s" % gemini_vcf, data)
if ped_file:
cmd = [gemini, "amend", "--sample", ped_file, tx_gemini_db]
do.run(cmd, "Add PED file to gemini database", data)
return gemini_db
def prep_gemini_db(fnames, call_info, samples):
"""Prepare a gemini database from VCF inputs prepared with snpEff.
"""
data = samples[0]
out_dir = utils.safe_makedir(os.path.join(data["dirs"]["work"], "gemini"))
name, caller, is_batch = call_info
gemini_db = os.path.join(out_dir, "%s-%s.db" % (name, caller))
gemini_vcf = get_multisample_vcf(fnames, name, caller, data)
use_gemini_quick = (do_db_build(samples, check_gemini=False)
and any(vcfutils.vcf_has_variants(f) for f in fnames))
if not utils.file_exists(gemini_db) and use_gemini_quick:
use_gemini = do_db_build(samples) and any(
vcfutils.vcf_has_variants(f) for f in fnames)
if use_gemini:
with file_transaction(gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
if "program_versions" in data["config"].get("resources", {}):
gemini_ver = programs.get_version("gemini",
config=data["config"])
else:
gemini_ver = None
# Recent versions of gemini allow loading only passing variants
load_opts = ""
if not gemini_ver or LooseVersion(gemini_ver) > LooseVersion(
"0.6.2.1"):
load_opts += " --passonly"
# For small test files, skip gene table loading which takes a long time
if gemini_ver and LooseVersion(gemini_ver) > LooseVersion(
"0.6.4"):
if _is_small_vcf(gemini_vcf):
load_opts += " --skip-gene-tables"
if "/test_automated_output/" in gemini_vcf:
load_opts += " --test-mode"
num_cores = data["config"]["algorithm"].get("num_cores", 1)
cmd = "{gemini} load {load_opts} -v {gemini_vcf} -t snpEff --cores {num_cores} {tx_gemini_db}"
cmd = cmd.format(**locals())
do.run(cmd,
"Create gemini database for %s %s" % (name, caller),
data)
return [[(name, caller), {
"db": gemini_db if utils.file_exists(gemini_db) else None,
"vcf": gemini_vcf if is_batch else None
}]]
def _freebayes_custom(in_file, ref_file, data):
"""Custom FreeBayes filtering using bcbio.variation, tuned to human NA12878 results.
Experimental: for testing new methods.
"""
if vcfutils.get_paired_phenotype(data):
return None
config = data["config"]
bv_ver = programs.get_version("bcbio_variation", config=config)
if LooseVersion(bv_ver) < LooseVersion("0.1.1"):
return None
out_file = "%s-filter%s" % os.path.splitext(in_file)
if not utils.file_exists(out_file):
tmp_dir = utils.safe_makedir(os.path.join(os.path.dirname(in_file), "tmp"))
resources = config_utils.get_resources("bcbio_variation", config)
jvm_opts = resources.get("jvm_opts", ["-Xms750m", "-Xmx2g"])
java_args = ["-Djava.io.tmpdir=%s" % tmp_dir]
cmd = ["bcbio-variation"] + jvm_opts + java_args + ["variant-filter", "freebayes", in_file, ref_file]
do.run(cmd, "Custom FreeBayes filtering using bcbio.variation")
return out_file
def create_gemini_db(gemini_vcf, data, gemini_db=None):
if not gemini_db:
gemini_db = "%s.db" % utils.splitext_plus(gemini_vcf)[0]
if not utils.file_exists(gemini_db):
if not vcfutils.vcf_has_variants(gemini_vcf):
return None
with file_transaction(data, gemini_db) as tx_gemini_db:
gemini = config_utils.get_program("gemini", data["config"])
if "program_versions" in data["config"].get("resources", {}):
gemini_ver = programs.get_version("gemini", config=data["config"])
else:
gemini_ver = None
# Recent versions of gemini allow loading only passing variants
load_opts = ""
if not gemini_ver or LooseVersion(gemini_ver) > LooseVersion("0.6.2.1"):
load_opts += " --passonly"
# For small test files, skip gene table loading which takes a long time
if gemini_ver and LooseVersion(gemini_ver) > LooseVersion("0.6.4"):
if _is_small_vcf(gemini_vcf):
load_opts += " --skip-gene-tables"
if "/test_automated_output/" in gemini_vcf:
load_opts += " --test-mode"
# Skip CADD or gerp-bp if neither are loaded
if gemini_ver and LooseVersion(gemini_ver) >= LooseVersion("0.7.0"):
gemini_dir = install.get_gemini_dir()
for skip_cmd, check_file in [("--skip-cadd", "whole_genome_SNVs.tsv.compressed.gz")]:
if not os.path.exists(os.path.join(gemini_dir, check_file)):
load_opts += " %s" % skip_cmd
# skip gerp-bp which slows down loading
load_opts += " --skip-gerp-bp "
num_cores = data["config"]["algorithm"].get("num_cores", 1)
eanns = ("snpEff" if tz.get_in(("config", "algorithm", "effects"), data, "snpeff") == "snpeff"
else "VEP")
cmd = "{gemini} load {load_opts} -v {gemini_vcf} -t {eanns} --cores {num_cores} {tx_gemini_db}"
cmd = cmd.format(**locals())
do.run(cmd, "Create gemini database for %s" % gemini_vcf, data)
return gemini_db
