def setup_maf_header(self):
"""
Sets up the maf header.
"""
# Reader header
_hdr = MafHeader.from_reader(reader=self.maf_reader)
if not self.options["reference_fasta_index"]:
self.maf_header = MafHeader.from_defaults(
version=self.options["version"],
annotation=self.options["annotation"],
sort_order=BarcodesAndCoordinate(),
contigs=_hdr.contigs(),
)
else:
self.maf_header = MafHeader.from_defaults(
version=self.options["version"],
annotation=self.options["annotation"],
sort_order=BarcodesAndCoordinate(),
fasta_index=self.options["reference_fasta_index"],
)
self.maf_header.validation_stringency = ValidationStringency.Strict
header_date = BaseRunner.get_header_date()
self.maf_header[header_date.key] = header_date
try:
nkey = _hdr["normal.aliquot"]
self.maf_header["normal.aliquot"] = nkey
except KeyError as e:
if not self.options["tumor_only"]:
raise e
tkey = _hdr["tumor.aliquot"]
self.maf_header["tumor.aliquot"] = tkey
def __add_arguments__(cls, subparser):
"""
Add arguments to a subparser.
"""
sort_orders = [c.name() for c in SortOrder.all()]
subparser.add_argument('-i',
'--input',
dest='input',
required=True,
help='A MAF file.')
subparser.add_argument('-o',
'--output',
default=None,
help="The output file, otherwise output will be"
" to standard output.")
subparser.add_argument('-s',
'--sort-order',
default=BarcodesAndCoordinate.name(),
choices=sort_orders,
help="The sort order to choose. "
"Choices: %s" % ", ".join(sort_orders))
subparser.add_argument('-f',
'--fasta-index',
default=None,
help="Use the FASTA index (fai) to order "
"genomic coordinates.")
def __init__(self,
iters,
fasta_index=None,
contigs=None,
by_barcodes=True,
peekable_iterator_class=PeekableIterator):
"""
:param iters: the list of iterators.
:param fasta_index: the path to the FASTA index for defining
ordering across chromosomes.
:param contigs: the list of contigs to use for sorting instead of
parsing from FASTA index.
:param by_barcodes: True to require the same tumor and matched
normal barcodes for returned locatables, False otherwise
:param peekable_iterator_class: PeekableIterator class to use when
traversing individual MAFs. This allows developers to add in custom
filters and custom handling of MAFs.
"""
self._by_barcodes = by_barcodes
if self._by_barcodes:
self._sort_order = BarcodesAndCoordinate(fasta_index=fasta_index, contigs=contigs)
self._overlap_f = self.__overlaps_with_barcode
else:
self._sort_order = Coordinate(fasta_index=fasta_index)
self._overlap_f = self.__overlaps
# Trust, but verify
_iters = [_SortOrderEnforcingIterator(_iter, self._sort_order)
for _iter in iters]
self._iters = [peekable_iterator_class(_iter) for _iter in _iters]
self._sort_key = self._sort_order.sort_key()
def setup_maf_header(self):
"""
Sets up the maf header.
"""
self.maf_header = MafHeader.from_defaults(
version=self.options["version"],
annotation=self.options["annotation"],
sort_order=BarcodesAndCoordinate(),
fasta_index=self.options["reference_fasta_index"],
)
header_date = BaseRunner.get_header_date()
self.maf_header[header_date.key] = header_date
if not self.options["tumor_only"]:
normal_aliquot = MafHeaderRecord(
key="normal.aliquot",
value=self.options["normal_aliquot_uuid"]
if not self.options["tumor_only"]
else "",
)
self.maf_header[normal_aliquot.key] = normal_aliquot
tumor_aliquot = MafHeaderRecord(
key="tumor.aliquot", value=self.options["tumor_aliquot_uuid"]
)
self.maf_header[tumor_aliquot.key] = tumor_aliquot
def test_sorter_with_sort_order_args(self):
lines = [
"chr1\t248956422\t112\t70\t71"
"chr2\t242193529\t252513167\t70\t71",
"chr3\t198295559\t498166716\t70\t71",
"chr4\t190214555\t699295181\t70\t71",
"chr5\t181538259\t892227221\t70\t71",
"chr6\t170805979\t1076358996\t70\t71",
"chr7\t159345973\t1249605173\t70\t71",
"chr8\t145138636\t1411227630\t70\t71",
"chr9\t138394717\t1558439788\t70\t71",
"chr10\t133797422\t1698811686\t70\t71",
]
fd, fn = tmp_file(lines=lines)
sorter = MafSorter(
sort_order_name=BarcodesAndCoordinate.name(),
max_objects_in_ram=100,
fasta_index=fn,
)
self.__test_sorter(sorter=sorter, chromosome="chr5")
with self.assertRaises(ValueError):
self.__test_sorter(sorter=sorter, chromosome="1")
fd.close()
os.remove(fn)
def test_end_to_end(self):
lines, header, records = self.read_test_maf()
# reverse the lines
input_lines = header + list(reversed(records))
subcommand_args = [
"--version",
GdcV1_0_0_PublicScheme.version(), "--annotation",
GdcV1_0_0_PublicScheme.annotation_spec()
]
out_lines, stdout, stderr = run_main(subcommand="sort",
lines=input_lines,
subcommand_args=subcommand_args)
out_records = [line for line in out_lines if not line.startswith("#")]
# Check that we have the same # of records
out_records = [line for line in out_lines \
if not line.startswith("#") and not line.startswith("Hugo_Symbol")]
self.assertEqual(len(out_records), len(records))
# Check that we added the sort pragma
sortOrderLine = "%s%s %s" % (MafHeader.HeaderLineStartSymbol,
MafHeader.SortOrderKey,
BarcodesAndCoordinate.name())
self.assertTrue(sortOrderLine in out_lines)
self.assertEqual(len(out_lines) - 1, len(lines)) # added the pragma
def test_sorter_with_scheme(self):
scheme = DummyScheme()
sorter = MafSorter(
sort_order_name=BarcodesAndCoordinate.name(),
scheme=scheme,
max_objects_in_ram=100,
)
self.__test_sorter(sorter=sorter, with_scheme=True)
def __init__(
self,
iters: List[MafReader],
fasta_index: Optional[str] = None,
contigs: List[str] = None,
by_barcodes: bool = True,
peekable_iterator_class: Type[PeekableIterator] = PeekableIterator,
):
"""
:param iters: the list of iterators.
:param fasta_index: the path to the FASTA index for defining
ordering across chromosomes.
:param contigs: the list of contigs to use for sorting instead of
parsing from FASTA index.
:param by_barcodes: True to require the same tumor and matched
normal barcodes for returned locatables, False otherwise
:param peekable_iterator_class: PeekableIterator class to use when
traversing individual MAFs. This allows developers to add in custom
filters and custom handling of MAFs.
"""
self._overlap_f: Union[Callable[
[_BarcodesAndCoordinateKey, _BarcodesAndCoordinateKey], bool],
Callable[[Locatable, Locatable], bool], ]
if not by_barcodes:
_sort_order = Coordinate(fasta_index=fasta_index)
self._overlap_f = self.__overlaps
else:
_sort_order = BarcodesAndCoordinate(fasta_index=fasta_index,
contigs=contigs)
self._overlap_f = self.__overlaps_with_barcode
self._sort_order: Coordinate = _sort_order
self._by_barcodes: bool = by_barcodes
# Trust, but verify
_iters = [
_SortOrderEnforcingIterator(_iter, self._sort_order)
for _iter in iters
]
self._iters: List[PeekableIterator] = [
peekable_iterator_class(_iter) for _iter in _iters
]
self._sort_key: TSortKey = self._sort_order.sort_key()
def test_less_than_max_in_memory(self):
max_objects_in_ram = 100
num_records = max_objects_in_ram - 1
sorter = Sorter(max_objects_in_ram,
self.codec(),
BarcodesAndCoordinate().sort_key(),
always_spill=False)
# add them in reverse order
for i in range(num_records):
record = DummyRecord("A", "B", "C", 1, num_records - i - 1)
sorter += record
records = [r for r in sorter]
sorter.close()
self.assertEqual(len(records), num_records)
for i in range(num_records):
record = records[i]
self.assertEqual(record.value("End_Position"), i)
def test_with_fasta_index(self):
# change the order of chromosomes!
fasta_index_lines = [
"chr13\t114364328\t2106716512\t70\t71",
"chr1\t248956422\t112\t70\t71"
]
fd, fn = tmp_file(lines=fasta_index_lines)
lines, header, records = self.read_test_maf()
subcommand_args = [
"--version",
GdcV1_0_0_PublicScheme.version(), "--annotation",
GdcV1_0_0_PublicScheme.annotation_spec()
]
out_lines, stdout, stderr = run_main(subcommand="sort",
lines=lines,
subcommand_args=subcommand_args)
# Check that we have the same # of records
out_records = [line for line in out_lines \
if not line.startswith("#") and not line.startswith("Hugo_Symbol")]
self.assertEqual(len(out_records), len(records))
# Check that we added the sort pragma
sortOrderLine = "%s%s %s" % (MafHeader.HeaderLineStartSymbol,
MafHeader.SortOrderKey,
BarcodesAndCoordinate.name())
self.assertTrue(sortOrderLine in out_lines)
scheme = find_scheme(
version=GdcV1_0_0_PublicScheme.version(),
annotation=GdcV1_0_0_PublicScheme.annotation_spec())
# we should see chr13 before chr1
self.assertEqual(len(out_lines) - 1, len(lines)) # added the pragma
found_chr1 = False
for line in out_lines:
if line.startswith(MafHeader.HeaderLineStartSymbol):
continue
record = MafRecord.from_line(line=line, scheme=scheme)
self.assertFalse(record["Chromosome"] == "chr13" and found_chr1)
found_chr1 = record["Chromosome"] == "chr1"
fd.close()
os.remove(fn)
def setup_maf_header(self):
"""
Sets up the maf header.
"""
# Reader header
_hdr = MafHeader.from_reader(reader=self.maf_readers[0])
self.maf_header = MafHeader.from_defaults(
version=self.options['version'],
annotation=self.options['annotation'],
sort_order=BarcodesAndCoordinate(),
contigs=_hdr.contigs())
self.maf_header.validation_stringency = ValidationStringency.Strict
header_date = BaseRunner.get_header_date()
self.maf_header[header_date.key] = header_date
nkey = _hdr["normal.aliquot"]
self.maf_header["normal.aliquot"] = nkey
tkey = _hdr["tumor.aliquot"]
self.maf_header["tumor.aliquot"] = tkey
def do_work(self):
"""Main wrapper function for running protect MAF merging"""
# Reader
self.load_readers()
# Header
self.setup_maf_header()
self._scheme = self.maf_header.scheme()
self._columns = get_columns_from_header(self.maf_header)
# Sorter
sorter = MafSorter(max_objects_in_ram=100000,
sort_order_name=BarcodesAndCoordinate.name(),
scheme=self.maf_header.scheme(),
contigs=self.maf_header.contigs())
# Merger
self._merger = MafRecordMerger_1_0_0(self._scheme)
# Overlap iterator
o_iter = LocatableOverlapIterator(
self.maf_readers,
contigs=self.maf_header.contigs(),
peekable_iterator_class=FilteringPeekableIterator)
# ndp filter
ndp_filter = Filters.NormalDepth.setup(self.options['min_n_depth'])
ndp_tag = ndp_filter.tags[0]
# Counts
processed = 0
try:
for record in o_iter:
if processed > 0 and processed % 1000 == 0:
self.logger.info(
"Processed {0} overlapping intervals...".format(
processed))
result = OverlapSet(record, self.callers)
for maf_record in self._merger.merge_records(result):
if maf_record is not None:
# Recheck normal depth
gdc_filters = maf_record['GDC_FILTER'].value
has_tag = ndp_tag in gdc_filters
ndp = ndp_filter.filter(maf_record)
if has_tag != ndp:
if ndp:
gdc_filters.extend(ndp_filter.tags)
else:
gdc_filters = list(
filter(lambda x: x != ndp_filter.tags[0],
gdc_filters))
maf_record["GDC_FILTER"] = get_builder(
"GDC_FILTER",
self._scheme,
value=sorted(gdc_filters))
# Add to sorter
sorter += maf_record
processed += 1
self.logger.info(
"Writing {0} sorted, merged records...".format(processed))
# Writer
self.maf_writer = MafWriter.from_path(
path=self.options['output_maf'],
header=self.maf_header,
validation_stringency=ValidationStringency.Strict)
counter = 0
for record in sorter:
if counter > 0 and counter % 1000 == 0:
self.logger.info(
"Wrote {0} sorted, merged records...".format(counter))
self.maf_writer += record
counter += 1
self.logger.info(
"Finished writing {0} sorted, merged records.".format(counter))
finally:
for reader in self.maf_readers:
reader.close()
sorter.close()
if self.maf_writer:
self.maf_writer.close()
def do_work(self):
"""Main wrapper function for running vcf2maf"""
self.logger.info(
"Processing input vcf {0}...".format(self.options["input_vcf"])
)
# Initialize the maf file
self.setup_maf_header()
sorter = MafSorter(
max_objects_in_ram=100000,
sort_order_name=BarcodesAndCoordinate.name(),
scheme=self.maf_header.scheme(),
fasta_index=self.options["reference_fasta_index"],
)
self._scheme = self.maf_header.scheme()
self._columns = get_columns_from_header(self.maf_header)
self._colset = set(self._columns)
# Initialize vcf reader
vcf_object = pysam.VariantFile(self.options["input_vcf"])
tumor_sample_id = self.options["tumor_vcf_id"]
normal_sample_id = self.options["normal_vcf_id"]
is_tumor_only = self.options["tumor_only"]
try:
# Validate samples
tumor_idx = assert_sample_in_header(
vcf_object, self.options["tumor_vcf_id"]
)
normal_idx = assert_sample_in_header(
vcf_object, self.options["normal_vcf_id"], can_fail=is_tumor_only
)
# extract annotation from header
ann_cols_format, vep_key = extract_annotation_from_header(
vcf_object, vep_key="CSQ"
)
# Initialize annotators
self.setup_annotators()
# Initialize filters
self.setup_filters()
# Convert
line = 0
for vcf_record in vcf_object.fetch():
line += 1
if line % 1000 == 0:
self.logger.info("Processed {0} records...".format(line))
# Extract data
data = self.extract(
tumor_sample_id,
normal_sample_id,
tumor_idx,
normal_idx,
ann_cols_format,
vep_key,
vcf_record,
is_tumor_only,
)
# Skip rare occasions where VEP doesn't provide IMPACT or the consequence is ?
if (
not data["selected_effect"]["IMPACT"]
or data["selected_effect"]["One_Consequence"] == "?"
):
self.logger.warn(
"Skipping record with unknown impact or consequence: {0} - {1}".format(
data["selected_effect"]["IMPACT"],
data["selected_effect"]["One_Consequence"],
)
)
continue
# Transform
maf_record = self.transform(
vcf_record, data, is_tumor_only, line_number=line
)
# Add to sorter
sorter += maf_record
# Write
self.logger.info("Writing {0} sorted records...".format(line))
self.maf_writer = MafWriter.from_path(
path=self.options["output_maf"],
header=self.maf_header,
validation_stringency=ValidationStringency.Strict,
)
counter = 0
for record in sorter:
counter += 1
if counter % 1000 == 0:
self.logger.info("Wrote {0} records...".format(counter))
self.maf_writer += record
self.logger.info("Finished writing {0} records".format(counter))
finally:
vcf_object.close()
sorter.close()
if self.maf_writer:
self.maf_writer.close()
for anno in self.annotators:
if self.annotators[anno]:
self.annotators[anno].shutdown()
self.logger.info("Finished")
def test_empty(self):
sorter = Sorter(100, self.codec(), BarcodesAndCoordinate().sort_key())
records = [r for r in sorter]
sorter.close()
self.assertEqual(len(records), 0)
def test_sorter_default(self):
sorter = MafSorter(sort_order_name=BarcodesAndCoordinate.name(),
max_objects_in_ram=100)
self.__test_sorter(sorter=sorter)
