def setUp(self): self.out_fname = test_utils.test_tmpfile('output.vcf') self.header = variants_pb2.VcfHeader( contigs=[ reference_pb2.ContigInfo(name='Chr1', n_bases=50, pos_in_fasta=0), reference_pb2.ContigInfo(name='Chr2', n_bases=25, pos_in_fasta=1), ], sample_names=['Fido', 'Spot'], formats=[ variants_pb2.VcfFormatInfo( id='GT', number='1', type='String', description='Genotype'), variants_pb2.VcfFormatInfo( id='GQ', number='1', type='Float', description='Genotype Quality') ], ) self.options = variants_pb2.VcfWriterOptions() self.writer = vcf_writer.VcfWriter.to_file(self.out_fname, self.header, self.options) self.variant = test_utils.make_variant( chrom='Chr1', start=10, alleles=['A', 'C'], ) self.variant.calls.extend([ variants_pb2.VariantCall(genotype=[0, 0], call_set_name='Fido'), variants_pb2.VariantCall(genotype=[0, 1], call_set_name='Spot'), ])
def _create_variant_with_alleles(ref=None, alts=None, start=0): """Creates a Variant record with specified alternate_bases.""" return variants_pb2.Variant( reference_bases=ref, alternate_bases=alts, start=start, calls=[variants_pb2.VariantCall(call_set_name=_DEFAULT_SAMPLE_NAME)])
def test_reserved_format_field_get_fn(self): info = variants_pb2.VariantCall().info expected = [0.2, 0.5, 0.3] struct_utils.set_number_field(info, 'GP', expected[:]) get_fn = vcf_constants.reserved_format_field_get_fn('GP') actual = get_fn(info, 'GP') self.assertEqual(actual, expected)
def test_modify_only_call(self): variant = variants_pb2.Variant(calls=[variants_pb2.VariantCall()]) call = variant_utils.only_call(variant) call.call_set_name = 'name' call.genotype[:] = [0, 1] self.assertLen(variant.calls, 1) self.assertEqual(variant.calls[0].call_set_name, 'name') self.assertEqual(variant.calls[0].genotype, [0, 1])
def test_invalid_only_call(self, num_calls): calls = [ variants_pb2.VariantCall(call_set_name=str(x)) for x in range(num_calls) ] variant = variants_pb2.Variant(calls=calls) with self.assertRaisesRegexp(ValueError, 'Expected exactly one VariantCall'): variant_utils.only_call(variant)
def test_set_format(self, field_name, value, reader, expected): if reader is not None: reader = mock.Mock() reader.field_access_cache.format_field_set_fn.return_value = ( struct_utils.set_string_field) call = variants_pb2.VariantCall() variantcall_utils.set_format(call, field_name, value, reader) actual = call.info[field_name].values self._assert_struct_lists_equal(actual, expected)
def test_variantcall_format_roundtrip(self, field_name, setter, getter, values): vc = variants_pb2.VariantCall() self.assertNotIn(field_name, vc.info) for value in values: setter(vc, value) if field_name not in ['GT', 'GL']: self.assertIn(field_name, vc.info) actual = getter(vc) self.assertEqual(actual, value)
def test_get_format(self, field_name, reader, expected): if reader is not None: reader = mock.Mock() reader.field_access_cache.format_field_get_fn.return_value = ( functools.partial(struct_utils.get_string_field, is_single_field=True)) call = variants_pb2.VariantCall() variantcall_utils.set_format(call, 'GP', [.1, .2, .7]) variantcall_utils.set_format(call, 'AD', [55, 3]) variantcall_utils.set_format(call, 'DP', 58) variantcall_utils.set_format(call, 'GL', [-1, -3, -5.5]) variantcall_utils.set_format(call, 'GT', [0, 1]) variantcall_utils.set_format(call, 'FT', ['LowQual']) actual = variantcall_utils.get_format(call, field_name, vcf_object=reader) self.assertEqual(actual, expected)
def test_unsupported_genotype_likelihood(self): variantcall = variants_pb2.VariantCall(genotype_likelihood=[-1, -2, -3]) with self.assertRaisesRegexp(NotImplementedError, 'only supports haploid and diploid'): variant_utils.genotype_likelihood(variantcall, [0, 1, 1])
def test_genotype_likelihood(self, gls, allele_indices, expected): variantcall = variants_pb2.VariantCall(genotype_likelihood=gls) actual = variant_utils.genotype_likelihood(variantcall, allele_indices) self.assertEqual(actual, expected)
def test_only_call(self): expected = variants_pb2.VariantCall(call_set_name='name', genotype=[0, 1]) variant = variants_pb2.Variant(calls=[expected]) actual = variant_utils.only_call(variant) self.assertEqual(actual, expected)
class VariantUtilsTests(parameterized.TestCase): def test_only_call(self): expected = variants_pb2.VariantCall(call_set_name='name', genotype=[0, 1]) variant = variants_pb2.Variant(calls=[expected]) actual = variant_utils.only_call(variant) self.assertEqual(actual, expected) @parameterized.parameters( 0, 2, 3, ) def test_invalid_only_call(self, num_calls): calls = [ variants_pb2.VariantCall(call_set_name=str(x)) for x in range(num_calls) ] variant = variants_pb2.Variant(calls=calls) with self.assertRaisesRegexp(ValueError, 'Expected exactly one VariantCall'): variant_utils.only_call(variant) def test_modify_only_call(self): variant = variants_pb2.Variant(calls=[variants_pb2.VariantCall()]) call = variant_utils.only_call(variant) call.call_set_name = 'name' call.genotype[:] = [0, 1] self.assertLen(variant.calls, 1) self.assertEqual(variant.calls[0].call_set_name, 'name') self.assertEqual(variant.calls[0].genotype, [0, 1]) def test_decode_variants(self): variants = [ test_utils.make_variant(start=1), test_utils.make_variant(start=2) ] encoded = [variant.SerializeToString() for variant in variants] actual = variant_utils.decode_variants(encoded) # We have an iterable, so actual isn't equal to variants. self.assertNotEqual(actual, variants) # Making actual a list now makes it equal. self.assertEqual(list(actual), variants) def test_variant_position_and_range(self): v1 = test_utils.make_variant(chrom='1', alleles=['A', 'C'], start=10) v2 = test_utils.make_variant(chrom='1', alleles=['AGCT', 'C'], start=10) pos = ranges.make_range('1', 10, 11) range_ = ranges.make_range('1', 10, 14) v1_range_tuple = ('1', 10, 11) v2_range_tuple = ('1', 10, 14) self.assertEqual(pos, variant_utils.variant_position(v1)) self.assertEqual(pos, variant_utils.variant_position(v2)) self.assertEqual(pos, variant_utils.variant_range(v1)) self.assertEqual(range_, variant_utils.variant_range(v2)) self.assertEqual(v1_range_tuple, variant_utils.variant_range_tuple(v1)) self.assertEqual(v2_range_tuple, variant_utils.variant_range_tuple(v2)) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C']), 'A/C'), (test_utils.make_variant(alleles=['A', 'C', 'T']), 'A/C,T'), (test_utils.make_variant(alleles=['A', 'AT']), 'A/AT'), (test_utils.make_variant(alleles=['AT', 'A']), 'AT/A'), (test_utils.make_variant(alleles=['AT', 'A', 'CT']), 'AT/A,CT'), ) def test_format_alleles(self, variant, expected): self.assertEqual(variant_utils.format_alleles(variant), expected) @parameterized.parameters( (None, '.'), (['.'], '.'), (['PASS'], 'PASS'), (['FILTER1', 'FILTER2'], 'FILTER1,FILTER2'), (['FILTER1', 'FILTER2', 'FILTER3'], 'FILTER1,FILTER2,FILTER3'), ) def test_format_filters(self, filters, expected): variant = test_utils.make_variant(filters=filters) if filters is None: variant.ClearField('filter') self.assertEqual(variant_utils.format_filters(variant), expected) @parameterized.parameters( # variant => status if we require non_ref genotype / status if we don't. (test_utils.make_variant(alleles=['A', 'C']), True, True), (test_utils.make_variant(alleles=['A', 'C'], gt=None), True, True), (test_utils.make_variant(alleles=['A', 'C', 'AT']), True, True), (test_utils.make_variant(alleles=['A']), False, False), (test_utils.make_variant(alleles=['A', '.']), False, False), (test_utils.make_variant(filters=['FAIL']), False, False), (test_utils.make_variant(gt=[-1, -1]), False, True), (test_utils.make_variant(gt=[0, 0]), False, True), (test_utils.make_variant(gt=[0, 1]), True, True), (test_utils.make_variant(gt=[1, 1]), True, True), (test_utils.make_variant_multiple_calls(gts=[[0, 0], [0, 0]]), False, True), (test_utils.make_variant_multiple_calls(gts=[[0, 1], [0, 0]]), True, True), (test_utils.make_variant_multiple_calls(gts=[[-1, -1], [0, 0]]), False, True), ) def test_is_variant_call(self, variant, expected_req_non_ref, expected_any_genotype): # Check that default call checks for genotypes. self.assertEqual( variant_utils.is_variant_call(variant), expected_req_non_ref) # Ask explicitly for genotypes to be included. self.assertEqual( variant_utils.is_variant_call(variant, require_non_ref_genotype=True), expected_req_non_ref) # Don't require non_ref genotypes. self.assertEqual( variant_utils.is_variant_call(variant, require_non_ref_genotype=False), expected_any_genotype) with self.assertRaises(Exception): variant_utils.is_variant_call(None) @parameterized.parameters( ([-1, 0], ['PASS'], False, False), ([-1, 0], [], False, False), ([-1, 1], ['FAIL'], False, True), ([0, 0], ['PASS'], False, False), ([0, 1], ['VQSRTrancheSNP99.80to100.00'], False, True), ([0, 1], ['PASS'], True, True), ([0, 1], [], True, True), ([1, 1], ['FAIL'], False, True), ([1, 1], ['PASS'], True, True), ([1, 2], [], True, True), ) def test_is_variant_call_apply_filter(self, genotype, filters, expected_when_applied, expected_when_not_applied): variant = test_utils.make_variant(gt=genotype, filters=filters) # The default is apply_filter=True. self.assertEqual( variant_utils.is_variant_call(variant), expected_when_applied) self.assertEqual( variant_utils.is_variant_call(variant, apply_filter=True), expected_when_applied) self.assertEqual( variant_utils.is_variant_call(variant, apply_filter=False), expected_when_not_applied) def test_is_variant_call_no_calls_are_variant(self): def check_is_variant(variant, expected, **kwargs): self.assertEqual( variant_utils.is_variant_call(variant, **kwargs), expected) no_genotypes = test_utils.make_variant(gt=[]) no_call = test_utils.make_variant(gt=[-1, -1]) hom_ref = test_utils.make_variant(gt=[0, 0]) het = test_utils.make_variant(gt=[0, 1]) hom_var = test_utils.make_variant(gt=[1, 1]) mult1 = test_utils.make_variant_multiple_calls(gts=[[-1, -1], [0, 0]]) mult2 = test_utils.make_variant_multiple_calls( gts=[[0, 0], [0, 1], [-1, -1]]) check_is_variant(no_genotypes, False, no_calls_are_variant=False) check_is_variant(no_genotypes, False, no_calls_are_variant=False) check_is_variant(no_call, False, no_calls_are_variant=False) check_is_variant(no_call, True, no_calls_are_variant=True) check_is_variant(hom_ref, False, no_calls_are_variant=False) check_is_variant(hom_ref, False, no_calls_are_variant=True) check_is_variant(het, True, no_calls_are_variant=False) check_is_variant(het, True, no_calls_are_variant=True) check_is_variant(hom_var, True, no_calls_are_variant=False) check_is_variant(hom_var, True, no_calls_are_variant=True) check_is_variant(mult1, False, no_calls_are_variant=False) check_is_variant(mult1, True, no_calls_are_variant=True) check_is_variant(mult2, False, call_indices=[0]) check_is_variant(mult2, True, call_indices=[1]) check_is_variant(mult2, True, call_indices=[0, 1]) check_is_variant(mult2, False, call_indices=[2]) @parameterized.parameters( (test_utils.make_variant(filters=None), False), (test_utils.make_variant(filters=['.']), False), (test_utils.make_variant(filters=['PASS']), False), (test_utils.make_variant(filters=['FAIL']), True), (test_utils.make_variant(filters=['FAIL1', 'FAIL2']), True), # These two are not allowed in VCF, but worth testing our # code's behavior (test_utils.make_variant(filters=['FAIL1', 'PASS']), True), (test_utils.make_variant(filters=['FAIL1', '.']), True), ) def test_is_filtered(self, variant, expected): self.assertEqual(variant_utils.is_filtered(variant), expected) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C']), variant_utils.VariantType.snp), (test_utils.make_variant(alleles=['A', 'C', 'T']), variant_utils.VariantType.snp), (test_utils.make_variant(alleles=['A']), variant_utils.VariantType.ref), (test_utils.make_variant(alleles=['A', '.']), variant_utils.VariantType.ref), (test_utils.make_variant(alleles=['A', 'AC']), variant_utils.VariantType.indel), (test_utils.make_variant(alleles=['AC', 'A']), variant_utils.VariantType.indel), (test_utils.make_variant(alleles=['A', 'AC', 'ACC']), variant_utils.VariantType.indel), (test_utils.make_variant(alleles=['ACC', 'AC', 'A']), variant_utils.VariantType.indel), ) def test_variant_type(self, variant, expected): self.assertEqual(variant_utils.variant_type(variant), expected) @parameterized.parameters( (test_utils.make_variant('chr1', 10), 'chr1:11'), (test_utils.make_variant('chr2', 100), 'chr2:101'), ) def test_format_position(self, variant, expected): self.assertEqual(variant_utils.format_position(variant), expected) @parameterized.parameters( (['C', '<*>'], None, ['C']), (['C', '.'], None, ['C']), (['C', '<NON_REF>'], None, ['C']), (['C', '<*>', 'A', 'T'], None, ['C', 'A', 'T']), (['C', '<*>', 'A', 'T'], [], ['C', '<*>', 'A', 'T']), (['C'], None, ['C']), (['TEST'], ['TEST'], []), ) def test_non_excluded_alts(self, alts, excluded, expected): self.assertEqual( variant_utils._non_excluded_alts(alts, exclude_alleles=excluded), expected) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C']), True), (test_utils.make_variant(alleles=['A', 'C', 'T']), True), (test_utils.make_variant(alleles=['A', 'AT']), False), (test_utils.make_variant(alleles=['AT', 'A']), False), (test_utils.make_variant(alleles=['AT', 'A', 'CT']), False), (test_utils.make_variant(alleles=['A', 'C', 'AT']), False), (test_utils.make_variant(alleles=['A']), False), (test_utils.make_variant(alleles=['A', '.']), False), (test_utils.make_variant(alleles=['A', 'C', '<*>']), True), (test_utils.make_variant(alleles=['A', 'AT', '<*>']), False), (test_utils.make_variant(alleles=['A', 'G', 'C', 'AT', '<*>']), False), (test_utils.make_variant(alleles=['A', 'C', 'G', 'T', '<*>']), True), (test_utils.make_variant(alleles=['A', 'AT', '<*>']), False), (test_utils.make_variant(alleles=['A', 'T', '<*>']), True), (test_utils.make_variant(alleles=['A', 'T', 'G', '<*>']), True), ) def test_is_snp(self, variant, expected): self.assertEqual(variant_utils.is_snp(variant), expected) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C', '<NON_REF>']), ['<NON_REF>' ], True), (test_utils.make_variant(alleles=['A', 'AT', '<NON_REF>']), ['<NON_REF>' ], False), # <NON_REF> is excluded by default (test_utils.make_variant(alleles=['A', 'C', '<NON_REF>']), None, True), (test_utils.make_variant(alleles=['A', 'AT', '<NON_REF>']), None, False), ) def test_is_snp_symbolic_allele(self, variant, exclude_alleles, expected): self.assertEqual( variant_utils.is_snp(variant, exclude_alleles=exclude_alleles), expected) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C']), False), (test_utils.make_variant(alleles=['A', 'C', 'T']), False), (test_utils.make_variant(alleles=['A', 'AT']), True), (test_utils.make_variant(alleles=['AT', 'A']), True), (test_utils.make_variant(alleles=['AT', 'A', 'CT']), True), (test_utils.make_variant(alleles=['A', 'C', 'AT']), True), (test_utils.make_variant(alleles=['A']), False), (test_utils.make_variant(alleles=['A', '.']), False), (test_utils.make_variant(alleles=['A', 'C', 'AT', '<*>']), True), (test_utils.make_variant(alleles=['A', 'C', '<*>']), False), (test_utils.make_variant(alleles=['A', 'C', 'AT', '<*>']), True), (test_utils.make_variant(alleles=['A', '<*>']), False), (test_utils.make_variant(alleles=['A', 'C', '<*>']), False), (test_utils.make_variant(alleles=['A', 'C', '<NON_REF>']), False), (test_utils.make_variant(alleles=['A', 'AT', '<NON_REF>']), True), ) def test_is_indel(self, variant, expected): self.assertEqual(variant_utils.is_indel(variant), expected) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C', '<NON_REF>']), ['<NON_REF>'], False), (test_utils.make_variant(alleles=['A', 'AT', '<NON_REF>']), ['<NON_REF>'], True), ) def test_is_indel_symbolic_allele(self, variant, exclude_alleles, expected): self.assertEqual( variant_utils.is_indel(variant, exclude_alleles=exclude_alleles), expected) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C']), False), (test_utils.make_variant(alleles=['A', 'C', 'T']), True), (test_utils.make_variant(alleles=['A', 'AT']), False), (test_utils.make_variant(alleles=['AT', 'A']), False), (test_utils.make_variant(alleles=['AT', 'A', 'CT']), True), (test_utils.make_variant(alleles=['A', 'C', 'AT']), True), (test_utils.make_variant(alleles=['A', 'C', '<*>']), False), (test_utils.make_variant(alleles=['A', 'C', 'T', '<*>']), True), ) def test_is_multiallelic(self, variant, expected): self.assertEqual(variant_utils.is_multiallelic(variant), expected) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C']), True), (test_utils.make_variant(alleles=['A', 'C', 'T']), False), (test_utils.make_variant(alleles=['A', 'AT']), True), (test_utils.make_variant(alleles=['AT', 'A']), True), (test_utils.make_variant(alleles=['AT', 'A', 'CT']), False), (test_utils.make_variant(alleles=['AT']), False), (test_utils.make_variant(alleles=['AT', '.']), False), (test_utils.make_variant(alleles=['AT', '<*>']), False), (test_utils.make_variant(alleles=['A', 'AT', '<*>']), True), (test_utils.make_variant(alleles=['AT', 'A', '<*>']), True), (test_utils.make_variant(alleles=['A', 'C', 'T', '<*>']), False), ) def test_is_biallelic(self, variant, expected): self.assertEqual(variant_utils.is_biallelic(variant), expected) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'AA']), True), (test_utils.make_variant(alleles=['A', 'G']), False), (test_utils.make_variant(alleles=['A', 'AT', 'AG']), True), (test_utils.make_variant(alleles=['A', 'AT', 'A']), False), (test_utils.make_variant(alleles=['A', 'AT', 'AGG']), True), (test_utils.make_variant(alleles=['A', '.']), False), (test_utils.make_variant(alleles=['A', '<*>']), False), (test_utils.make_variant(alleles=['A', '<NON_REF>']), False), (test_utils.make_variant(alleles=['A']), False), ) def test_variant_is_insertion(self, variant, expected): self.assertEqual(variant_utils.variant_is_insertion(variant), expected) @parameterized.parameters( (test_utils.make_variant(alleles=['AG', 'A']), True), (test_utils.make_variant(alleles=['A', 'G']), False), (test_utils.make_variant(alleles=['AAG', 'AC', 'AG']), True), (test_utils.make_variant(alleles=['AAC', 'ATG', 'A']), False), (test_utils.make_variant(alleles=['AAT', 'A', 'AA']), True), (test_utils.make_variant(alleles=['AGA', '.']), False), (test_utils.make_variant(alleles=['AGTT', '<*>']), False), (test_utils.make_variant(alleles=['AGAGTCGACTGAT', '<NON_REF>']), False), (test_utils.make_variant(alleles=['AT']), False), ) def test_variant_is_deletion(self, variant, expected): self.assertEqual(variant_utils.variant_is_deletion(variant), expected) @parameterized.parameters( (['A', 'C'], ['A', 'C']), (['AA', 'CA'], ['A', 'C']), (['AAG', 'CAG'], ['A', 'C']), (['AAGAG', 'CAGAG'], ['A', 'C']), (['AACAG', 'CAGAG'], ['AAC', 'CAG']), (['AACAC', 'CAGAG'], ['AACAC', 'CAGAG']), (['ACT', 'A'], ['ACT', 'A']), (['ACTCT', 'ACT'], ['ACT', 'A']), (['ACTCT', 'A'], ['ACTCT', 'A']), (['CAG', 'GAG'], ['C', 'G']), # Make sure we don't reduce an allele to nothing. (['AT', 'ATAT'], ['A', 'ATA']), # Tests for multi-allelics. # There's one extra T here. (['ATT', 'AT', 'ATTT'], ['AT', 'A', 'ATT']), # Another single base postfix where we can remove a 'G'. (['CAG', 'GAG', 'TCG'], ['CA', 'GA', 'TC']), # There are two extra Ts to remove. (['ATTT', 'ATT', 'ATTTT'], ['AT', 'A', 'ATT']), # One pair can simplify, but not the other, so nothing can reduce. (['CAG', 'GAG', 'TCA'], ['CAG', 'GAG', 'TCA']), # Example from b/64022627. (['CGGCGG', 'CGG', 'CAACGG'], ['CGGC', 'C', 'CAAC']), ) def test_simplify_alleles(self, alleles, expected): self.assertEqual(variant_utils.simplify_alleles(*alleles), tuple(expected)) self.assertEqual( variant_utils.simplify_alleles(*reversed(alleles)), tuple(reversed(expected))) @parameterized.parameters( dict( alleles=['CAA', 'CA', 'C'], start=5, expected_alleles=['CAA', 'CA', 'C'], expected_end=8), dict( alleles=['CAA', 'CA'], start=4, expected_alleles=['CA', 'C'], expected_end=6), dict( alleles=['CAA', 'C'], start=3, expected_alleles=['CAA', 'C'], expected_end=6), dict( alleles=['CCA', 'CA'], start=2, expected_alleles=['CC', 'C'], expected_end=4), ) def test_simplify_variant_alleles(self, alleles, start, expected_alleles, expected_end): """Test that simplify_variant_alleles works as expected.""" variant = _create_variant_with_alleles( ref=alleles[0], alts=alleles[1:], start=start) simplified = variant_utils.simplify_variant_alleles(variant) self.assertEqual(simplified.reference_bases, expected_alleles[0]) self.assertEqual(simplified.alternate_bases, expected_alleles[1:]) self.assertEqual(simplified.start, start) self.assertEqual(simplified.end, expected_end) @parameterized.parameters( (['A', 'C'], ['A', 'C'], NO_MISMATCH), (['A', 'AC'], ['A', 'AC'], NO_MISMATCH), (['AC', 'A'], ['AC', 'A'], NO_MISMATCH), (['AC', 'A', 'ACT'], ['AC', 'A', 'ACT'], NO_MISMATCH), (['AC', 'A', 'ACT'], ['AC', 'ACT', 'A'], NO_MISMATCH), # Alleles are incompatible, so we have mismatches in both directions. (['A', 'C'], ['A', 'T'], {TRUE_MISS, EVAL_MISS}), (['A', 'C'], ['G', 'C'], {TRUE_MISS, EVAL_MISS}), # Missing alts specific to eval and truth. (['A', 'C', 'G'], ['A', 'C'], {EVAL_MISS}), (['A', 'C'], ['A', 'C', 'G'], {TRUE_MISS}), # Duplicate alleles. (['A', 'C', 'C'], ['A', 'C'], {EVAL_DUP}), (['A', 'C'], ['A', 'C', 'C'], {TRUE_DUP}), (['A', 'C', 'C'], ['A', 'C', 'C'], {EVAL_DUP, TRUE_DUP}), # Dups in truth, discordant alleles. (['A', 'C'], ['A', 'G', 'G'], {TRUE_DUP, EVAL_MISS, TRUE_MISS}), # Simplification of alleles does the right matching. (['A', 'C'], ['AA', 'CA'], NO_MISMATCH), # trailing A. # preceding A, doesn't simplify so it's a mismatch. (['A', 'C'], ['AA', 'AC'], {EVAL_MISS, TRUE_MISS}), # both training preceding A, doesn't simplify, so mismatches (['A', 'C'], ['AAA', 'ACA'], {EVAL_MISS, TRUE_MISS}), # # Eval has 1 of the two alt alleles, so no eval mismatch. (['ACT', 'A'], ['ACTCT', 'ACT', 'A'], {TRUE_MISS}), # Eval has extra unmatched alleles, so it's got a mismatch. (['ACTCT', 'ACT', 'A'], ['ACT', 'A'], {EVAL_MISS}), ) def test_allele_mismatch(self, a1, a2, expected): v1 = test_utils.make_variant(alleles=a1) v2 = test_utils.make_variant(alleles=a2) self.assertEqual(variant_utils.allele_mismatches(v1, v2), expected) @parameterized.parameters( (['A', 'C'], False), (['A', 'G'], True), (['A', 'T'], False), (['C', 'G'], False), (['C', 'T'], True), (['G', 'T'], False), ) def test_is_transition(self, ordered_alleles, expected): for alleles in [ordered_alleles, reversed(ordered_alleles)]: self.assertEqual(variant_utils.is_transition(*alleles), expected) def test_is_transition_raises_with_bad_args(self): with self.assertRaises(ValueError): variant_utils.is_transition('A', 'A') with self.assertRaises(ValueError): variant_utils.is_transition('A', 'AA') with self.assertRaises(ValueError): variant_utils.is_transition('AA', 'A') @parameterized.parameters( # alleles followed by is_insertion and is_deletion expectation (['A', 'C'], False, False), (['A', 'AT'], True, False), (['A', 'ATT'], True, False), (['AT', 'A'], False, True), (['ATT', 'A'], False, True), (['CAT', 'TCA'], False, False), # These are examples where ref is not simplified, such as could occur # a multi-allelic record, such as the following: # alleles = AT, A, ATT, CT (1 deletion, 1 insertion, 1 SNP) (['AT', 'A'], False, True), (['AT', 'ATT'], True, False), (['AT', 'CT'], False, False), ) def test_is_insertion_deletion(self, alleles, is_insertion, is_deletion): self.assertEqual(variant_utils.is_insertion(*alleles), is_insertion) self.assertEqual(variant_utils.is_deletion(*alleles), is_deletion) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C']), False, False), (test_utils.make_variant(alleles=['A', 'C', 'T']), False, False), (test_utils.make_variant(alleles=['A', 'AT']), True, False), (test_utils.make_variant(alleles=['AT', 'A']), False, True), (test_utils.make_variant(alleles=['AT', 'A', 'ATT']), True, True), (test_utils.make_variant(alleles=['AT', 'A', 'CT']), False, True), (test_utils.make_variant(alleles=['A', 'C', 'AT']), True, False), (test_utils.make_variant(alleles=['A']), False, False), (test_utils.make_variant(alleles=['AGA', '.']), False, False), ) def test_has_insertion_deletion(self, variant, has_insertion, has_deletion): self.assertEqual(variant_utils.has_insertion(variant), has_insertion) self.assertEqual(variant_utils.has_deletion(variant), has_deletion) @parameterized.parameters( (test_utils.make_variant(alleles=['A']), None, True), (test_utils.make_variant(alleles=['A', '.']), None, True), # a gVCF reference block record is counted as ref (test_utils.make_variant(alleles=['A', '<*>']), None, True), # symbolic allele <NON_REF> practically counts as ref (test_utils.make_variant(alleles=['A', '<NON_REF>']), None, True), (test_utils.make_variant(alleles=['A', 'G']), None, False), (test_utils.make_variant(alleles=['A', '<NON_REF>']), ['.'], False), ) def test_is_ref(self, variant, excluded, expected): self.assertEqual(variant_utils.is_ref(variant, excluded), expected) @parameterized.parameters( (test_utils.make_variant(gt=None), False), (test_utils.make_variant(gt=[0, 0]), True), (test_utils.make_variant(gt=[0, 1]), True), (test_utils.make_variant(gt=[1, 1]), True), (test_utils.make_variant(gt=[-1, -1]), True), (variants_pb2.Variant(calls=[]), False), (variants_pb2.Variant( calls=[variants_pb2.VariantCall(call_set_name='no_geno')]), True), (variants_pb2.Variant(calls=[ variants_pb2.VariantCall(call_set_name='no_geno'), variants_pb2.VariantCall(call_set_name='no_geno2'), ]), True), ) def test_has_calls(self, variant, expected): self.assertEqual(variant_utils.has_calls(variant), expected) def test_has_calls_raises_with_bad_inputs(self): with self.assertRaises(Exception): variant_utils.has_calls(None) @parameterized.parameters( (test_utils.make_variant(gt=None), variant_utils.GenotypeType.no_call), (test_utils.make_variant(gt=[-1, -1]), variant_utils.GenotypeType.no_call), (test_utils.make_variant(gt=[0, 0]), variant_utils.GenotypeType.hom_ref), (test_utils.make_variant(gt=[0, 1]), variant_utils.GenotypeType.het), (test_utils.make_variant(gt=[1, 0]), variant_utils.GenotypeType.het), (test_utils.make_variant(gt=[0, 2]), variant_utils.GenotypeType.het), (test_utils.make_variant(gt=[2, 0]), variant_utils.GenotypeType.het), (test_utils.make_variant(gt=[1, 1]), variant_utils.GenotypeType.hom_var), (test_utils.make_variant(gt=[1, 2]), variant_utils.GenotypeType.het), ) def test_genotype_type(self, variant, expected): self.assertEqual(variant_utils.genotype_type(variant), expected) def test_genotype_type_raises_with_bad_args(self): with self.assertRaises(Exception): variant_utils.genotype_type(None) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C'], gt=[0, 0]), ['A', 'A']), (test_utils.make_variant(alleles=['A', 'C'], gt=[0, 1]), ['A', 'C']), (test_utils.make_variant(alleles=['A', 'C'], gt=[1, 0]), ['C', 'A']), (test_utils.make_variant(alleles=['A', 'C'], gt=[1, 1]), ['C', 'C']), (test_utils.make_variant(alleles=['A', 'C', 'T'], gt=[0, 0]), ['A', 'A']), (test_utils.make_variant(alleles=['A', 'C', 'T'], gt=[0, 1]), ['A', 'C']), (test_utils.make_variant(alleles=['A', 'C', 'T'], gt=[0, 2]), ['A', 'T']), (test_utils.make_variant(alleles=['A', 'C', 'T'], gt=[1, 2]), ['C', 'T']), (test_utils.make_variant(alleles=['A', 'C', 'T'], gt=[2, 1]), ['T', 'C']), (test_utils.make_variant(alleles=['A', 'C', 'T'], gt=[1, 1]), ['C', 'C']), (test_utils.make_variant(alleles=['A', 'C', 'T'], gt=[2, 2]), ['T', 'T']), (test_utils.make_variant(alleles=['A', 'C'], gt=[-1, -1]), ['.', '.']), ) def test_genotype_as_alleles(self, variant, expected): self.assertEqual(variant_utils.genotype_as_alleles(variant), expected) def test_genotype_as_alleles_raises_with_bad_inputs(self): with self.assertRaises(Exception): variant_utils.genotype_as_alleles(None) with self.assertRaises(Exception): variant_utils.genotype_as_alleles(test_utils.make_variant(gt=None)) with self.assertRaises(Exception): variant_utils.genotype_as_alleles( test_utils.make_variant(alleles=['A', 'C'], gt=[0, 0]), call_ix=1) with self.assertRaises(Exception): variant_utils.genotype_type(None) @parameterized.parameters( (test_utils.make_variant(alleles=['A', 'C'], gt=[0, 1], is_phased=False), test_utils.make_variant(alleles=['A', 'C'], gt=[0, 1], is_phased=False)), (test_utils.make_variant(alleles=['A', 'C'], gt=[1, 0], is_phased=True), test_utils.make_variant(alleles=['A', 'C'], gt=[0, 1], is_phased=False)), (test_utils.make_variant(alleles=['A', 'C'], gt=[1, 1], is_phased=True), test_utils.make_variant(alleles=['A', 'C'], gt=[1, 1], is_phased=False)), (test_utils.make_variant( alleles=['A', 'C', 'T'], gt=[2, 1], is_phased=True), test_utils.make_variant( alleles=['A', 'C', 'T'], gt=[1, 2], is_phased=False)), (test_utils.make_variant(alleles=['A', 'C'], gt=[-1, -1], is_phased=True), test_utils.make_variant( alleles=['A', 'C'], gt=[-1, -1], is_phased=False)), ) def test_unphase_all_genotypes(self, variant, expected): self.assertEqual(variant_utils.unphase_all_genotypes(variant), expected) @parameterized.parameters( # Ref without an alt isn't gVCF. (test_utils.make_variant(alleles=['A']), False), # SNPs and indels aren't gVCF records. (test_utils.make_variant(alleles=['A', 'T']), False), (test_utils.make_variant(alleles=['A', 'AT']), False), (test_utils.make_variant(alleles=['AT', 'T']), False), # These are gVCF records. (test_utils.make_variant(alleles=['A', '<*>']), True), (test_utils.make_variant(alleles=['A', '<*>'], filters='PASS'), True), (test_utils.make_variant(alleles=['A', '<*>'], filters='FAIL'), True), # These are close but not exactly gVCFs. (test_utils.make_variant(alleles=['A', '<*>', 'C']), False), (test_utils.make_variant(alleles=['A', '<*F>']), False), (test_utils.make_variant(alleles=['A', '<CNV>']), False), ) def test_is_gvcf(self, variant, expected): self.assertEqual(variant_utils.is_gvcf(variant), expected) @parameterized.parameters( # Variants with one ref and one alt allele. (test_utils.make_variant(alleles=['A', 'C']), [(0, 0, 'A', 'A'), (0, 1, 'A', 'C'), (1, 1, 'C', 'C')]), # Variants with one ref and two alt alleles. (test_utils.make_variant(alleles=['A', 'C', 'G']), [(0, 0, 'A', 'A'), (0, 1, 'A', 'C'), (1, 1, 'C', 'C'), (0, 2, 'A', 'G'), (1, 2, 'C', 'G'), (2, 2, 'G', 'G')]), # Variants with one ref and three alt alleles. (test_utils.make_variant(alleles=['A', 'C', 'G', 'T']), [(0, 0, 'A', 'A'), (0, 1, 'A', 'C'), (1, 1, 'C', 'C'), (0, 2, 'A', 'G'), (1, 2, 'C', 'G'), (2, 2, 'G', 'G'), (0, 3, 'A', 'T'), (1, 3, 'C', 'T'), (2, 3, 'G', 'T'), (3, 3, 'T', 'T')]), ) def test_genotype_ordering_in_likelihoods(self, variant, expected): self.assertEqual( list(variant_utils.genotype_ordering_in_likelihoods(variant)), expected) @parameterized.parameters( # Haploid. dict(gls=[0.], allele_indices=[0], expected=0.), dict(gls=[-1, -2], allele_indices=[1], expected=-2), dict(gls=[-1, -2, -3], allele_indices=[2], expected=-3), # Diploid. dict(gls=[0.], allele_indices=[0, 0], expected=0.), dict(gls=[-1, -2, -3], allele_indices=[0, 0], expected=-1), dict(gls=[-1, -2, -3], allele_indices=[0, 1], expected=-2), dict(gls=[-1, -2, -3], allele_indices=[1, 0], expected=-2), dict(gls=[-1, -2, -3], allele_indices=[1, 1], expected=-3), dict(gls=[-1, -2, -3, -4, -5, -6], allele_indices=[0, 0], expected=-1), dict(gls=[-1, -2, -3, -4, -5, -6], allele_indices=[0, 1], expected=-2), dict(gls=[-1, -2, -3, -4, -5, -6], allele_indices=[1, 0], expected=-2), dict(gls=[-1, -2, -3, -4, -5, -6], allele_indices=[1, 1], expected=-3), dict(gls=[-1, -2, -3, -4, -5, -6], allele_indices=[0, 2], expected=-4), dict(gls=[-1, -2, -3, -4, -5, -6], allele_indices=[2, 0], expected=-4), dict(gls=[-1, -2, -3, -4, -5, -6], allele_indices=[1, 2], expected=-5), dict(gls=[-1, -2, -3, -4, -5, -6], allele_indices=[2, 1], expected=-5), dict(gls=[-1, -2, -3, -4, -5, -6], allele_indices=[2, 2], expected=-6), dict(gls=range(10), allele_indices=[0, 3], expected=6), dict(gls=range(10), allele_indices=[1, 3], expected=7), dict(gls=range(10), allele_indices=[2, 3], expected=8), dict(gls=range(10), allele_indices=[3, 3], expected=9), ) def test_genotype_likelihood(self, gls, allele_indices, expected): variantcall = variants_pb2.VariantCall(genotype_likelihood=gls) actual = variant_utils.genotype_likelihood(variantcall, allele_indices) self.assertEqual(actual, expected) def test_unsupported_genotype_likelihood(self): variantcall = variants_pb2.VariantCall(genotype_likelihood=[-1, -2, -3]) with self.assertRaisesRegexp(NotImplementedError, 'only supports haploid and diploid'): variant_utils.genotype_likelihood(variantcall, [0, 1, 1]) def test_haploid_allele_indices_for_genotype_likelihood_index(self): for aix in six.moves.xrange(20): allele_indices = (aix,) ix = variant_utils.genotype_likelihood_index(allele_indices) actual = variant_utils.allele_indices_for_genotype_likelihood_index( ix, ploidy=1) self.assertEqual(actual, aix) def test_diploid_allele_indices_for_genotype_likelihood_index(self): for aix in range(20): for bix in range(20): allele_indices = (aix, bix) expected = tuple(sorted(allele_indices)) ix = variant_utils.genotype_likelihood_index(allele_indices) actual = variant_utils.allele_indices_for_genotype_likelihood_index( ix, ploidy=2) self.assertEqual(actual, expected) @parameterized.parameters( dict(ploidy=-1), dict(ploidy=0), dict(ploidy=3), ) def test_unsupported_allele_indices_for_genotype_likelihood_index( self, ploidy): with self.assertRaisesRegexp(NotImplementedError, 'only supported for haploid and diploid'): variant_utils.allele_indices_for_genotype_likelihood_index(0, ploidy) @parameterized.parameters( dict(alt_bases=[], num_alts=0, expected=[(0, 0)]), dict(alt_bases=['A'], num_alts=0, expected=[(0, 0)]), dict(alt_bases=['A'], num_alts=1, expected=[(0, 1)]), dict(alt_bases=['A'], num_alts=2, expected=[(1, 1)]), dict(alt_bases=['A', 'C'], num_alts=0, expected=[(0, 0)]), dict(alt_bases=['A', 'C'], num_alts=1, expected=[(0, 1), (0, 2)]), dict(alt_bases=['A', 'C'], num_alts=2, expected=[(1, 1), (1, 2), (2, 2)]), ) def test_allele_indices_with_num_alts(self, alt_bases, num_alts, expected): variant = variants_pb2.Variant(alternate_bases=alt_bases) actual = variant_utils.allele_indices_with_num_alts( variant, num_alts, ploidy=2) self.assertEqual(actual, expected) @parameterized.parameters( dict(alt_bases=['A'], num_alts=0, ploidy=1), dict(alt_bases=['A'], num_alts=0, ploidy=3), dict(alt_bases=['A'], num_alts=-1, ploidy=2), dict(alt_bases=['A'], num_alts=3, ploidy=2), ) def test_invalid_allele_indices_with_num_alts(self, alt_bases, num_alts, ploidy): variant = variants_pb2.Variant(alternate_bases=alt_bases) with self.assertRaises((NotImplementedError, ValueError)): variant_utils.allele_indices_with_num_alts(variant, num_alts, ploidy) def test_variants_overlap(self): v1 = test_utils.make_variant(chrom='1', alleles=['A', 'C'], start=10) v2 = test_utils.make_variant(chrom='1', alleles=['A', 'C'], start=20) with mock.patch.object(ranges, 'ranges_overlap') as mock_overlap: mock_overlap.return_value = 'SENTINEL' self.assertEqual(variant_utils.variants_overlap(v1, v2), 'SENTINEL') mock_overlap.assert_called_once_with( variant_utils.variant_range(v1), variant_utils.variant_range(v2)) @parameterized.parameters( # Degenerate cases - no and one variant. dict(sorted_variants=[],), dict(sorted_variants=[ test_utils.make_variant(chrom='1', start=10), ],), # Two variants on the same chromosome. dict( sorted_variants=[ test_utils.make_variant(chrom='1', start=10), test_utils.make_variant(chrom='1', start=15), ],), # The first variant has start > the second, but it's on a later chrom. dict( sorted_variants=[ test_utils.make_variant(chrom='1', start=15), test_utils.make_variant(chrom='2', start=10), ],), # Make sure the end is respected. dict( sorted_variants=[ test_utils.make_variant(chrom='1', start=10), test_utils.make_variant(chrom='1', start=15), test_utils.make_variant(chrom='1', alleles=['AA', 'A'], start=15), ],), # Complex example with multiple chromosomes, ends, etc. dict( sorted_variants=[ test_utils.make_variant(chrom='1', start=10), test_utils.make_variant(chrom='2', start=5), test_utils.make_variant(chrom='2', alleles=['AA', 'A'], start=5), test_utils.make_variant(chrom='2', start=6), test_utils.make_variant(chrom='2', start=10), test_utils.make_variant(chrom='3', start=2), ],), ) 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)) @parameterized.parameters( dict( variant=test_utils.make_variant( chrom='1', start=10, alleles=['A', 'C']), expected_key='1:11:A->C'), dict( variant=test_utils.make_variant( chrom='1', start=10, alleles=['A', 'G', 'C']), sort_alleles=True, expected_key='1:11:A->C/G'), dict( variant=test_utils.make_variant( chrom='1', start=10, alleles=['A', 'G', 'C']), sort_alleles=False, expected_key='1:11:A->G/C'), ) def test_variant_key(self, variant, expected_key, sort_alleles=True): self.assertEqual( variant_utils.variant_key(variant, sort_alleles=sort_alleles), expected_key) @parameterized.parameters( dict( field_name='AD', value=[23, 25], reader=None, expected=[ struct_pb2.Value(int_value=23), struct_pb2.Value(int_value=25) ], ), dict( field_name='AA', value='C', reader=True, expected=[struct_pb2.Value(string_value='C')], ), ) def test_set_info(self, field_name, value, reader, expected): if reader is not None: reader = mock.Mock() reader.field_access_cache.info_field_set_fn.return_value = ( struct_utils.set_string_field) variant = variants_pb2.Variant() variant_utils.set_info(variant, field_name, value, reader) actual = variant.info[field_name].values self.assertEqual(len(actual), len(expected)) for actual_elem, expected_elem in zip(actual, expected): self.assertEqual(actual_elem, expected_elem) @parameterized.parameters( dict(field_name='AD', reader=None, expected=[23, 25]), dict(field_name='AA', reader=True, expected='C'), dict(field_name='1000G', reader=None, expected=True), ) def test_get_info(self, field_name, reader, expected): if reader is not None: reader = mock.Mock() reader.field_access_cache.info_field_get_fn.return_value = ( functools.partial( struct_utils.get_string_field, is_single_field=True)) variant = variants_pb2.Variant() variant_utils.set_info(variant, 'AD', [23, 25]) variant_utils.set_info(variant, 'AA', 'C') variant_utils.set_info(variant, '1000G', True) variant_utils.set_info(variant, 'DB', False) actual = variant_utils.get_info(variant, field_name, vcf_object=reader) self.assertEqual(actual, expected) @parameterized.parameters( dict(alt_bases=['A', 'T'], calls=[[0, 0], [0, 1], [1, 2]], expected=[2, 1]), dict(alt_bases=['C'], calls=[[0, 0], [0, 0]], expected=[0]), dict(alt_bases=[], calls=[[0, 0], [0, 0], [0, 0]], expected=[]), ) def test_calc_ac(self, alt_bases, calls, expected): variant = variants_pb2.Variant() variant.alternate_bases[:] = alt_bases for gt in calls: variant.calls.add().genotype[:] = gt self.assertEqual(variant_utils.calc_ac(variant), expected) @parameterized.parameters( dict(calls=[[0, 0], [0, 1], [1, 2]], expected=6), dict(calls=[[0, 0], [0, 0]], expected=4), dict(calls=[[0, 0], [-1, -1], [0, -1]], expected=3), ) def test_calc_an(self, calls, expected): variant = variants_pb2.Variant() for gt in calls: variant.calls.add().genotype[:] = gt self.assertEqual(variant_utils.calc_an(variant), expected) @parameterized.parameters( dict(calls=[], expected=False), dict(calls=[[0, 0]], expected=False), dict(calls=[[0, 1]], expected=True), dict(calls=[[1, 1]], expected=True), dict(calls=[[1, 2]], expected=True), dict(calls=[[0, 0], [0, 1]], expected=True), dict(calls=[[0, 0], [1, 1]], expected=True), dict(calls=[[0, 1], [0, 1]], expected=False), dict(calls=[[0, 2], [0, -1]], expected=True), dict(calls=[[0, 0], [0, 1], [-1, -1]], expected=True), dict(calls=[[0, 0], [0, 1], [0, 0]], expected=True), ) def test_is_singleton(self, calls, expected): variant = variants_pb2.Variant() for gt in calls: variant.calls.add().genotype[:] = gt actual = variant_utils.is_singleton(variant) self.assertEqual(actual, expected) @parameterized.parameters( dict(calls=[], expected=0.), dict(calls=[[0, 0]], expected=1.), dict(calls=[[0, 1]], expected=0.5), dict(calls=[[1, 1]], expected=1.), dict(calls=[[1, 2]], expected=0.5), dict(calls=[[0, 0], [0, 1]], expected=0.75), dict(calls=[[0, 0], [1, 1]], expected=0.5), dict(calls=[[0, 1], [0, 1]], expected=0.5), dict(calls=[[0, 2], [0, -1]], expected=2. / 3), dict(calls=[[0, 0], [0, 1], [-1, -1]], expected=0.75), dict(calls=[[0, 0], [0, 1], [0, 0]], expected=5. / 6), ) def test_major_allele_frequency(self, calls, expected): variant = variants_pb2.Variant() for gt in calls: variant.calls.add().genotype[:] = gt actual = variant_utils.major_allele_frequency(variant) self.assertAlmostEqual(actual, expected)
def test_is_heterozygous(self, genotype, expected): call = variants_pb2.VariantCall(genotype=genotype) actual = variantcall_utils.is_heterozygous(call) self.assertEqual(actual, expected)
def test_has_variation(self, genotype, expected): call = variants_pb2.VariantCall(genotype=genotype) actual = variantcall_utils.has_variation(call) self.assertEqual(actual, expected)
def test_ploidy(self, genotype, expected): call = variants_pb2.VariantCall(genotype=genotype) actual = variantcall_utils.ploidy(call) self.assertEqual(actual, expected)