def test_sorted_variants(self, sorted_variants):
for permutation in itertools.permutations(
sorted_variants, r=len(sorted_variants)):
# Check that sorting the permutations produced sorted.
self.assertEqual(
variant_utils.sorted_variants(permutation), sorted_variants)
# Check that variants_are_sorted() is correct, which we detect if
# the range_tuples of permutation == the range_tuples of sorted_variants.
def _range_tuples(variants):
return [variant_utils.variant_range_tuple(v) for v in variants]
self.assertEqual(
variant_utils.variants_are_sorted(permutation),
_range_tuples(permutation) == _range_tuples(sorted_variants))
def test_sorted_variants(self, sorted_variants):
for permutation in itertools.permutations(
sorted_variants, r=len(sorted_variants)):
# Check that sorting the permutations produced sorted.
self.assertEqual(
variant_utils.sorted_variants(permutation), sorted_variants)
# Check that variants_are_sorted() is correct, which we detect if
# the range_tuples of permutation == the range_tuples of sorted_variants.
def _range_tuples(variants):
return [variant_utils.variant_range_tuple(v) for v in variants]
self.assertEqual(
variant_utils.variants_are_sorted(permutation),
_range_tuples(permutation) == _range_tuples(sorted_variants))
def test_false_variants_get_homref_genotype(self):
ref = haplotype_labeler.ReferenceRegion('xACGTAy', 10)
v1 = _test_variant(11, ['A', 'T'], [0, 1])
v2 = _test_variant(13, ['G', 'GG'], [1, 1])
all_fps = [
_test_variant(12, ['C', 'G'], [0, 0]),
_test_variant(14, ['T', 'A'], [0, 0]),
_test_variant(15, ['A', 'AA'], [0, 0]),
]
for n_fps in range(1, len(all_fps) + 1):
for fps in itertools.combinations(all_fps, n_fps):
candidates = variant_utils.sorted_variants([v1, v2] + list(fps))
self.assertGetsCorrectLabels(
candidates=candidates,
true_variants=[v1, v2],
ref=ref,
expected_genotypes=haplotype_labeler._variant_genotypes(candidates))
def test_make_examples_end2end(self, mode, num_shards,
labeler_algorithm=None):
self.maxDiff = None
self.assertIn(mode, {'calling', 'training'})
region = ranges.parse_literal('chr20:10,000,000-10,010,000')
FLAGS.ref = testdata.CHR20_FASTA
FLAGS.reads = testdata.CHR20_BAM
FLAGS.candidates = test_utils.test_tmpfile(
_sharded('vsc.tfrecord', num_shards))
FLAGS.examples = test_utils.test_tmpfile(
_sharded('examples.tfrecord', num_shards))
FLAGS.regions = [ranges.to_literal(region)]
FLAGS.partition_size = 1000
FLAGS.mode = mode
FLAGS.gvcf_gq_binsize = 5
if labeler_algorithm is not None:
FLAGS.labeler_algorithm = labeler_algorithm
if mode == 'calling':
FLAGS.gvcf = test_utils.test_tmpfile(
_sharded('gvcf.tfrecord', num_shards))
else:
FLAGS.truth_variants = testdata.TRUTH_VARIANTS_VCF
FLAGS.confident_regions = testdata.CONFIDENT_REGIONS_BED
for task_id in range(max(num_shards, 1)):
FLAGS.task = task_id
options = make_examples.default_options(add_flags=True)
make_examples.make_examples_runner(options)
# Test that our candidates are reasonable, calling specific helper functions
# to check lots of properties of the output.
candidates = sorted(
io_utils.read_tfrecords(
FLAGS.candidates, proto=deepvariant_pb2.DeepVariantCall),
key=lambda c: variant_utils.variant_range_tuple(c.variant))
self.verify_deepvariant_calls(candidates, options)
self.verify_variants(
[call.variant for call in candidates], region, options, is_gvcf=False)
# Verify that the variants in the examples are all good.
examples = self.verify_examples(
FLAGS.examples, region, options, verify_labels=mode == 'training')
example_variants = [tf_utils.example_variant(ex) for ex in examples]
self.verify_variants(example_variants, region, options, is_gvcf=False)
# Verify the integrity of the examples and then check that they match our
# golden labeled examples. Note we expect the order for both training and
# calling modes to produce deterministic order because we fix the random
# seed.
if mode == 'calling':
golden_file = _sharded(testdata.GOLDEN_CALLING_EXAMPLES, num_shards)
else:
golden_file = _sharded(testdata.GOLDEN_TRAINING_EXAMPLES, num_shards)
self.assertDeepVariantExamplesEqual(
examples, list(io_utils.read_tfrecords(golden_file)))
if mode == 'calling':
nist_reader = vcf.VcfReader(testdata.TRUTH_VARIANTS_VCF)
nist_variants = list(nist_reader.query(region))
self.verify_nist_concordance(example_variants, nist_variants)
# Check the quality of our generated gvcf file.
gvcfs = variant_utils.sorted_variants(
io_utils.read_tfrecords(FLAGS.gvcf, proto=variants_pb2.Variant))
self.verify_variants(gvcfs, region, options, is_gvcf=True)
self.verify_contiguity(gvcfs, region)
gvcf_golden_file = _sharded(testdata.GOLDEN_POSTPROCESS_GVCF_INPUT,
num_shards)
expected_gvcfs = list(
io_utils.read_tfrecords(gvcf_golden_file, proto=variants_pb2.Variant))
self.assertItemsEqual(gvcfs, expected_gvcfs)
def test_make_examples_end2end(self,
mode,
num_shards,
test_condition=TestConditions.USE_BAM,
labeler_algorithm=None,
use_fast_pass_aligner=True):
self.assertIn(mode, {'calling', 'training'})
region = ranges.parse_literal('chr20:10,000,000-10,010,000')
FLAGS.write_run_info = True
FLAGS.ref = testdata.CHR20_FASTA
if test_condition == TestConditions.USE_BAM:
FLAGS.reads = testdata.CHR20_BAM
elif test_condition == TestConditions.USE_CRAM:
FLAGS.reads = testdata.CHR20_CRAM
elif test_condition == TestConditions.USE_MULTI_BAMS:
FLAGS.reads = ','.join(
[testdata.CHR20_BAM_FIRST_HALF, testdata.CHR20_BAM_SECOND_HALF])
FLAGS.candidates = test_utils.test_tmpfile(
_sharded('vsc.tfrecord', num_shards))
FLAGS.examples = test_utils.test_tmpfile(
_sharded('examples.tfrecord', num_shards))
FLAGS.regions = [ranges.to_literal(region)]
FLAGS.partition_size = 1000
FLAGS.mode = mode
FLAGS.gvcf_gq_binsize = 5
FLAGS.use_fast_pass_aligner = use_fast_pass_aligner
if labeler_algorithm is not None:
FLAGS.labeler_algorithm = labeler_algorithm
if mode == 'calling':
FLAGS.gvcf = test_utils.test_tmpfile(
_sharded('gvcf.tfrecord', num_shards))
else:
FLAGS.truth_variants = testdata.TRUTH_VARIANTS_VCF
FLAGS.confident_regions = testdata.CONFIDENT_REGIONS_BED
for task_id in range(max(num_shards, 1)):
FLAGS.task = task_id
options = make_examples.default_options(add_flags=True)
# We need to overwrite bam_fname for USE_CRAM test since Golden Set
# generated from BAM file. BAM filename is stored in candidates. If we
# don't overwrite default_options variants won't match and test fail.
options.bam_fname = 'NA12878_S1.chr20.10_10p1mb.bam'
make_examples_core.make_examples_runner(options)
# Check that our run_info proto contains the basic fields we'd expect:
# (a) our options are written to the run_info.options field.
run_info = make_examples_core.read_make_examples_run_info(
options.run_info_filename)
self.assertEqual(run_info.options, options)
# (b) run_info.resource_metrics is present and contains our hostname.
self.assertTrue(run_info.HasField('resource_metrics'))
self.assertEqual(run_info.resource_metrics.host_name, platform.node())
# Test that our candidates are reasonable, calling specific helper functions
# to check lots of properties of the output.
candidates = sorted(
tfrecord.read_tfrecords(
FLAGS.candidates, proto=deepvariant_pb2.DeepVariantCall),
key=lambda c: variant_utils.variant_range_tuple(c.variant))
self.verify_deepvariant_calls(candidates, options)
self.verify_variants([call.variant for call in candidates],
region,
options,
is_gvcf=False)
# Verify that the variants in the examples are all good.
examples = self.verify_examples(
FLAGS.examples, region, options, verify_labels=mode == 'training')
example_variants = [tf_utils.example_variant(ex) for ex in examples]
self.verify_variants(example_variants, region, options, is_gvcf=False)
# Verify the integrity of the examples and then check that they match our
# golden labeled examples. Note we expect the order for both training and
# calling modes to produce deterministic order because we fix the random
# seed.
if mode == 'calling':
golden_file = _sharded(testdata.GOLDEN_CALLING_EXAMPLES, num_shards)
else:
golden_file = _sharded(testdata.GOLDEN_TRAINING_EXAMPLES, num_shards)
self.assertDeepVariantExamplesEqual(
examples, list(tfrecord.read_tfrecords(golden_file)))
if mode == 'calling':
nist_reader = vcf.VcfReader(testdata.TRUTH_VARIANTS_VCF)
nist_variants = list(nist_reader.query(region))
self.verify_nist_concordance(example_variants, nist_variants)
# Check the quality of our generated gvcf file.
gvcfs = variant_utils.sorted_variants(
tfrecord.read_tfrecords(FLAGS.gvcf, proto=variants_pb2.Variant))
self.verify_variants(gvcfs, region, options, is_gvcf=True)
self.verify_contiguity(gvcfs, region)
gvcf_golden_file = _sharded(testdata.GOLDEN_POSTPROCESS_GVCF_INPUT,
num_shards)
expected_gvcfs = list(
tfrecord.read_tfrecords(gvcf_golden_file, proto=variants_pb2.Variant))
# Despite the name, assertCountEqual checks that all elements match.
self.assertCountEqual(gvcfs, expected_gvcfs)
if (mode == 'training' and num_shards == 0 and
labeler_algorithm != 'positional_labeler'):
# The positional labeler doesn't track metrics, so don't try to read them
# in when that's the mode.
self.assertEqual(
make_examples_core.read_make_examples_run_info(
testdata.GOLDEN_MAKE_EXAMPLES_RUN_INFO).labeling_metrics,
run_info.labeling_metrics)