[9b26b7]: / third_party / nucleus / io / sam_test.py

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# Copyright 2018 Google LLC.
#
# Redistribution and use in source and binary forms, with or without
# modification, are permitted provided that the following conditions
# are met:
#
# 1. Redistributions of source code must retain the above copyright notice,
# this list of conditions and the following disclaimer.
#
# 2. Redistributions in binary form must reproduce the above copyright
# notice, this list of conditions and the following disclaimer in the
# documentation and/or other materials provided with the distribution.
#
# 3. Neither the name of the copyright holder nor the names of its
# contributors may be used to endorse or promote products derived from this
# software without specific prior written permission.
#
# THIS SOFTWARE IS PROVIDED BY THE COPYRIGHT HOLDERS AND CONTRIBUTORS "AS IS"
# AND ANY EXPRESS OR IMPLIED WARRANTIES, INCLUDING, BUT NOT LIMITED TO, THE
# IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE
# ARE DISCLAIMED. IN NO EVENT SHALL THE COPYRIGHT HOLDER OR CONTRIBUTORS BE
# LIABLE FOR ANY DIRECT, INDIRECT, INCIDENTAL, SPECIAL, EXEMPLARY, OR
# CONSEQUENTIAL DAMAGES (INCLUDING, BUT NOT LIMITED TO, PROCUREMENT OF
# SUBSTITUTE GOODS OR SERVICES; LOSS OF USE, DATA, OR PROFITS; OR BUSINESS
# INTERRUPTION) HOWEVER CAUSED AND ON ANY THEORY OF LIABILITY, WHETHER IN
# CONTRACT, STRICT LIABILITY, OR TORT (INCLUDING NEGLIGENCE OR OTHERWISE)
# ARISING IN ANY WAY OUT OF THE USE OF THIS SOFTWARE, EVEN IF ADVISED OF THE
# POSSIBILITY OF SUCH DAMAGE.
"""Tests for third_party.nucleus.util.io."""
from __future__ import absolute_import
from __future__ import division
from __future__ import print_function
import itertools
from absl.testing import absltest
from absl.testing import parameterized
import six
from etils import epath
from third_party.nucleus.io import sam
from third_party.nucleus.io import tfrecord
from third_party.nucleus.protos import reads_pb2
from third_party.nucleus.protos import reference_pb2
from third_party.nucleus.testing import test_utils
from third_party.nucleus.util import ranges
class SamReaderTests(parameterized.TestCase):
"""Test the iteration functionality provided by io.SamReader."""
def test_sam_iterate(self):
reader = sam.SamReader(test_utils.genomics_core_testdata('test.sam'))
with reader:
self.assertEqual(test_utils.iterable_len(reader.iterate()), 6)
def test_bam_iterate(self):
reader = sam.SamReader(test_utils.genomics_core_testdata('test.bam'))
with reader:
self.assertEqual(test_utils.iterable_len(reader.iterate()), 106)
def test_bam_iterate_partially(self):
"""Verify that iteration provides results incrementally, not all at once."""
reader = sam.SamReader(test_utils.genomics_core_testdata('test.bam'))
with reader:
iterable = reader.iterate()
# We expect 106 records in total.
for _ in range(10):
results = list(itertools.islice(iterable, 10))
self.assertEqual(len(results), 10)
results = list(itertools.islice(iterable, 10))
self.assertEqual(len(results), 6)
def test_sam_query(self):
reader = sam.SamReader(test_utils.genomics_core_testdata('test.bam'))
expected = [(ranges.parse_literal('chr20:10,000,000-10,000,100'), 106),
(ranges.parse_literal('chr20:10,000,000-10,000,000'), 45)]
with reader:
for interval, n_expected in expected:
with reader.query(interval) as iterable:
self.assertEqual(test_utils.iterable_len(iterable), n_expected)
def test_sam_query_alternate_index_name(self):
reader = sam.SamReader(
test_utils.genomics_core_testdata('test_alternate_index.bam'))
expected = [(ranges.parse_literal('chr20:10,000,000-10,000,100'), 106),
(ranges.parse_literal('chr20:10,000,000-10,000,000'), 45)]
with reader:
for interval, n_expected in expected:
with reader.query(interval) as iterable:
self.assertEqual(test_utils.iterable_len(iterable), n_expected)
@parameterized.parameters(('\t'.join(x[0] for x in items), {
k: v for t in items for k, v in t[1].items()
}) for r in [1, 2] for items in itertools.permutations(
[
('X1:i:0', {
'X1': 0
}),
('X2:i:127', {
'X2': 127
}),
('X3:i:255', {
'X3': 255
}),
('X4:A:a', {
'X4': 'a'
}),
('X5:f:1.234', {
'X5': 1.234
}),
('X6:Z:string', {
'X6': 'string'
}),
('X7:Z:with spaces', {
'X7': 'with spaces'
}),
('ZJ:Z:', {
'ZJ': ''
}), # Empty string.
# We skip H hex byte-array tags as they appear deprecated.
('X8:H:1AE301', {}),
('X9:B:i,1', {
'X9': [1]
}),
('XA:B:i,1,2', {
'XA': [1, 2]
}),
('XB:B:i,1,2,3', {
'XB': [1, 2, 3]
}),
('XC:B:i,1,2,3,4,5,6,7,8,9,10', {
'XC': [1, 2, 3, 4, 5, 6, 7, 8, 9, 10]
}),
('XD:B:I,1,2,3', {
'XD': [1, 2, 3]
}),
('XE:B:c,1,2,3', {
'XE': [1, 2, 3]
}),
('XF:B:C,1,2,3', {
'XF': [1, 2, 3]
}),
('XG:B:f,0.12,0.34', {
'XG': [0.12, 0.34]
}),
('XH:B:s,1,2,3', {
'XH': [1, 2, 3]
}),
('XI:B:S,1,2,3', {
'XI': [1, 2, 3]
}),
],
r=r))
def test_parsing_aux_tags(self, tag_string, expected_info):
# Minimal header line to create a valid SAM file.
reads = self._parse_read_with_aux_tags(tag_string)
self.assertLen(reads, 1)
self.assertInfoMapEqual(reads[0].info, expected_info)
@parameterized.parameters(
'\t'.join(tags) for r in [1, 2, 3] for tags in itertools.permutations(
[
'X2:i:x', # Integer with character value.
'X3:f:string', # A string instead of the expected float.
'X4:A:', # Supposed to be single char, but we none here.
'X5:A:ab', # Supposed to be single char, but we have two here.
'X6:B:i', # Empty byte array.
'X7:B:i,1.23', # Integer byte array with a float.
'X8:B:i,string', # Integer byte array with a string.
'X8:B:f,string', # Float byte array with a string.
'X8:B:z,1,2,3', # z is not a valid subtype.
],
r=r))
def test_survives_malformed_lines(self, tag_string):
try:
reads = self._parse_read_with_aux_tags(tag_string)
# If we didn't detect the error, make sure we actually still parsed the
# read itself.
self.assertLen(reads, 1)
self.assertEqual(reads[0].fragment_name, 'read_name')
self.assertEqual(reads[0].aligned_sequence, 'CCC')
self.assertEqual(reads[0].alignment.position.reference_name, 'chr1')
self.assertEqual(reads[0].alignment.position.position, 0)
except ValueError as e:
if 'Failed to parse SAM record' not in str(e):
self.fail('Parsing failed but unexpected exception was seen: ' + str(e))
def _parse_read_with_aux_tags(self, tag_string):
# Minimal header line to create a valid SAM file.
header_lines = '@HD\tVN:1.3\tSO:coordinate\n@SQ\tSN:chr1\tLN:248956422\n'
# A single stock read we'll add our AUX fields to.
read = 'read_name\t0\tchr1\t1\t0\t3M\t*\t0\t0\tCCC\tAAA\t' + tag_string
path = test_utils.test_tmpfile('aux_tags.bam')
with epath.Path(path).open('w') as fout:
fout.write(header_lines)
fout.write(read + '\n')
with sam.SamReader(path, parse_aux_fields=True) as reader:
return list(reader.iterate())
def assertInfoMapEqual(self, info_map, expected_info):
self.assertCountEqual(
info_map.keys(), expected_info.keys(),
'info has {} keys but we expected {}'.format(info_map.keys(),
expected_info.keys()))
for key, expected_values in expected_info.items():
if not isinstance(expected_values, list):
expected_values = [expected_values]
for actual_value, expected_value in zip(info_map[key].values,
expected_values):
if isinstance(expected_value, float):
self.assertAlmostEqual(actual_value.number_value, expected_value)
elif isinstance(expected_value, six.integer_types):
self.assertEqual(actual_value.int_value, expected_value)
elif isinstance(expected_value, str):
self.assertEqual(actual_value.string_value, expected_value)
else:
self.fail('Unsupported expected_value type {}'.format(expected_value))
@parameterized.parameters(
# These expected counts are deterministic because we always set the random
# seed in each test.
# There are 106 total reads if we iterate.
('iterate', None, 1.0, 106),
('iterate', None, 0.5, 59),
('iterate', None, 0.25, 31),
# There are 45 total reads if we don't downsample.
('query', 'chr20:10,000,000-10,000,000', 1.0, 45),
('query', 'chr20:10,000,000-10,000,000', 0.5, 25),
('query', 'chr20:10,000,000-10,000,000', 0.25, 13),
)
def test_downsampling(self, method, maybe_range, fraction, expected_n_reads):
reader = sam.SamReader(
test_utils.genomics_core_testdata('test.bam'),
downsample_fraction=fraction,
random_seed=12345)
with reader:
if method == 'iterate':
reads_iter = reader.iterate()
elif method == 'query':
reads_iter = reader.query(ranges.parse_literal(maybe_range))
else:
self.fail('Unexpected method ' + str(method))
self.assertEqual(test_utils.iterable_len(reads_iter), expected_n_reads)
# Note that CRAM version 2.1 files work with Nucleus but they cannot be used in
# our test here because CRAM 2.1 embeds an exact path to the reference file
# which LEAKR flags as leaking internal google paths.
@parameterized.parameters(
dict(
filename='test_cram.embed_ref_0_version_3.0.cram',
has_embedded_ref=False),
dict(
filename='test_cram.embed_ref_1_version_3.0.cram',
has_embedded_ref=True),
)
class CramReaderTests(parameterized.TestCase):
"""Test io.SamReader on CRAM formatted files."""
def _make_reader(self, filename, has_embedded_ref):
if has_embedded_ref:
# If we have an embedded reference, force the reader to use it by not
# providing an argument for ref_path.
return sam.SamReader(test_utils.genomics_core_testdata(filename))
else:
# Otherwise we need to explicitly override the reference encoded in the UR
# of the CRAM file to use the path provided to our test.fasta.
return sam.SamReader(
test_utils.genomics_core_testdata(filename),
ref_path=test_utils.genomics_core_testdata('test.fasta'))
def test_header(self, filename, has_embedded_ref):
with self._make_reader(filename, has_embedded_ref) as reader:
self.assertEqual(reader.header.format_version, '1.3')
self.assertEqual([contig.name for contig in reader.header.contigs],
['chrM', 'chr1', 'chr2'])
def test_iterate(self, filename, has_embedded_ref):
with self._make_reader(filename, has_embedded_ref) as reader:
reads = list(reader.iterate())
self.assertEqual(len(reads), 3)
self.assertEqual([read.fragment_name for read in reads],
['cram1', 'cram2', 'cram3'])
self.assertEqual([read.aligned_sequence for read in reads], [
'CCCTAACCCTAACCCTAACCCTAACCCTANNNNNN',
('TAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCAAAACGAATCAAAAAAGAAAAACGAA'
'AAAAAAA'),
'CACAGACGCTT'
])
def test_query(self, filename, has_embedded_ref):
with self._make_reader(filename, has_embedded_ref) as reader:
for interval, n_expected in [('chr1:1-100', 3), ('chr2:1-121', 0)]:
with reader.query(ranges.parse_literal(interval)) as iterable:
self.assertEqual(test_utils.iterable_len(iterable), n_expected)
class ReadWriterTests(parameterized.TestCase):
"""Tests for sam.SamWriter."""
def setUp(self):
self.read1 = test_utils.make_read(
bases='ACCGT',
chrom='chr1',
start=10,
cigar='5M',
mapq=50,
quals=range(30, 35),
name='read1')
self.read2 = test_utils.make_read(
bases='AACCTT',
chrom='chr2',
start=15,
cigar='7M',
mapq=40,
quals=range(20, 26),
name='read2')
self.contigs = [
reference_pb2.ContigInfo(name='chr1'),
reference_pb2.ContigInfo(name='chr2'),
]
self.header = reads_pb2.SamHeader()
def test_make_read_writer_tfrecords(self):
outfile = test_utils.test_tmpfile('test.tfrecord')
writer = sam.SamWriter(outfile, header=self.header)
# Test that the writer is a context manager and that we can write a read to
# it.
with writer:
writer.write(self.read1)
writer.write(self.read2)
# Our output should have exactly one read in it.
self.assertEqual([self.read1, self.read2],
list(
tfrecord.read_tfrecords(outfile,
proto=reads_pb2.Read)))
@parameterized.parameters('test.bam', 'test.sam')
def test_roundtrip_writer(self, filename):
output_path = test_utils.test_tmpfile(filename)
original_reader = sam.SamReader(test_utils.genomics_core_testdata(filename))
original_records = list(original_reader.iterate())
with sam.SamWriter(output_path, header=original_reader.header) as writer:
for record in original_records:
writer.write(record)
with sam.SamReader(output_path) as new_reader:
self.assertEqual(original_records, list(new_reader.iterate()))
@parameterized.parameters(
dict(
filename='test_cram.embed_ref_0_version_3.0.cram',
has_embedded_ref=False),
dict(
filename='test_cram.embed_ref_1_version_3.0.cram',
has_embedded_ref=True))
def test_roundtrip_cram_writer(self, filename, has_embedded_ref):
output_path = test_utils.test_tmpfile(filename)
writer_ref_path = test_utils.genomics_core_testdata('test.fasta')
reader_ref_path = ''
if not has_embedded_ref:
reader_ref_path = writer_ref_path
original_reader = sam.SamReader(
test_utils.genomics_core_testdata(filename), ref_path=reader_ref_path)
original_records = list(original_reader.iterate())
with sam.SamWriter(
output_path,
header=original_reader.header,
ref_path=writer_ref_path,
embed_ref=has_embedded_ref) as writer:
for record in original_records:
writer.write(record)
with sam.SamReader(output_path, ref_path=reader_ref_path) as new_reader:
self.assertEqual(original_records, list(new_reader.iterate()))
if __name__ == '__main__':
absltest.main()