def test_effect_tx_mode(self):
gafDatasource = TestUtils.createTranscriptProviderDatasource(self.config)
gafDatasource.set_tx_mode(TranscriptProvider.TX_MODE_BEST_EFFECT)
# Canonical mutation was Intron
m = MutationDataFactory.default_create()
m.chr = '2'
m.start = '219137340'
m.end = '219137340'
m.ref_allele = 'G'
m.alt_allele = 'T'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(m['gene'] == "PNKD")
self.assertTrue(m['variant_classification'] == "Missense_Mutation")
gafDatasource.set_tx_mode(TranscriptProvider.TX_MODE_CANONICAL)
m = MutationDataFactory.default_create()
m.chr = '2'
m.start = '219137340'
m.end = '219137340'
m.ref_allele = 'G'
m.alt_allele = 'T'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(m['gene'] == "PNKD")
self.assertTrue(m['variant_classification'] == "Intron", "Canonical no longer is Intron. This test is no longer valid. This failure can come up when changing the GAF datasource.")
def testRealWorld(self):
"""Test that the full COSMIC datasource can retrieve entries by both gp and gpp."""
gafDS = TestUtils.createTranscriptProviderDatasource(self.config)
cosmicDS = TestUtils.createCosmicDatasource(self.config)
# These values are not taken from a real world scenario, but are cooked for this test.
m = MutationDataFactory.default_create()
m.chr = '1'
m.start = '12941796'
m.end = '12941796'
m.ref_allele = "G"
m.alt_allele = "T"
m = gafDS.annotate_mutation(m)
m = cosmicDS.annotate_mutation(m)
self.assertTrue(m['COSMIC_n_overlapping_mutations'] == '0')
#1 150483621 150483621
m = MutationDataFactory.default_create()
m.chr = '1'
m.start = '150483621'
m.end = '150483621'
m.ref_allele = "G"
m.alt_allele = "T"
m = gafDS.annotate_mutation(m)
m = cosmicDS.annotate_mutation(m)
def test_continuous_exons_in_segments(self):
"""Test that all exons are accounted when annotating adjacent segments that skip an exon. """
# SPECC1L 10+ 22 24734447 SPECC1L 10+ 41783674 TEF 1- 1215.0 -0.04975556624325125 hg19 CESC.TCGA.BI.A0VR.Tumor.SM.1RACM
# SPECC1L 8- 22 16282318 POTEH 2- 24730543 SPECC1L 8- 433.0 -0.00781166374668759 hg19 CESC.TCGA.BI.A0VR.Tumor.SM.1RACM
# SPECC1L-ADORA2A 22 24734447 SPECC1L 10+ 41783674 TEF 1- 1215.0 -0.04975556624325125 hg19 CESC.TCGA.BI.A0VR.Tumor.SM.1RACM
seg1 = MutationDataFactory.default_create()
seg1.chr = "22"
seg1.start = "24734447" # Just passed the exon 9 (0-based)
seg1.end = "41783674"
seg2 = MutationDataFactory.default_create()
seg2.chr = "22"
seg2.start = "16282318"
seg2.end = "24730543" # Just passed the exon 8 (0-based)
segs = [seg1, seg2]
# 'ENST00000314328.9' for GENCODE v19
chosen_tx, transcript_ds = self._get_chosen_tx_and_transcript_ds(seg1.chr, seg1.start)
result_tuple = transcript_ds._determine_exons_affected_by_start(seg1.start, chosen_tx)
self.assertTrue(result_tuple == (10, '+'))
result_tuple = transcript_ds._determine_exons_affected_by_end(seg2.end, chosen_tx)
self.assertTrue(result_tuple == (8, '-'))
def test_simple_collapse(self):
"""Ensure simple rules for numeric collapsing are honored"""
m1 = MutationDataFactory.default_create(chr="1", start="10000", end="10000")
m1.createAnnotation('ALT_F2R1', "34|36")
m1.createAnnotation('i_t_Foxog', ".509|.511")
m1.createAnnotation('i_tumor_f', ".200|.210")
m1.createAnnotation('hamilcar', "0|0")
m1.createAnnotation('donotcollapse', "1|45")
m2 = MutationDataFactory.default_create(chr="1", start="10000", end="10000")
m2.createAnnotation('ALT_F2R1', "36|38")
m2.createAnnotation('i_t_Foxog', ".500|.510")
m2.createAnnotation('i_tumor_f', ".100|.110")
m2.createAnnotation('hamilcar', "0.01|0")
m2.createAnnotation('barca', "0.02|0")
m2.createAnnotation('donotcollapse', "100|4500")
cc = ColumnCollapser()
cc.update_mutation(m1)
self.assertEqual(m1['ALT_F2R1'], "34")
self.assertEqual(float(m1['i_t_Foxog']), float(".510"))
self.assertEqual(float(m1['i_tumor_f']), float(".205"))
self.assertEqual(float(m1['hamilcar']), float("0"))
self.assertEqual(m1['donotcollapse'], "1|45")
cc.update_mutation(m2)
self.assertEqual(m2['ALT_F2R1'], "36")
self.assertEqual(float(m2['i_t_Foxog']), float(".505"))
self.assertEqual(float(m2['i_tumor_f']), float(".105"))
self.assertEqual(float(m2['hamilcar']), float("0.005"))
self.assertEqual(float(m2['barca']), float("0.01"))
self.assertEqual(m2['donotcollapse'], "100|4500")
def _simple_annotate(self, is_skip_no_alts):
runSpec = RunSpecification()
runSpec.initialize(None, None, datasources=[], is_skip_no_alts=is_skip_no_alts)
# Initialize the annotator with the runspec
annotator = Annotator()
annotator.initialize(runSpec)
m = MutationDataFactory.default_create()
m.chr = "1"
m.start = "12941796"
m.end = "12941796"
m.alt_allele = "G"
m.ref_allele = "T"
m.createAnnotation("alt_allele_seen", "False")
m2 = MutationDataFactory.default_create()
m2.chr = "1"
m2.start = "12941796"
m2.end = "12941796"
m2.alt_allele = "G"
m2.ref_allele = "T"
muts = [m, m2]
muts = annotator.annotate_mutations(muts)
ctr = 0
for m in muts:
ctr += 1
return ctr
def test_effect_tx_mode(self):
gafDatasource = TestUtils.createTranscriptProviderDatasource(
self.config)
gafDatasource.set_tx_mode(TranscriptProvider.TX_MODE_BEST_EFFECT)
# Canonical mutation was Intron
m = MutationDataFactory.default_create()
m.chr = '2'
m.start = '219137340'
m.end = '219137340'
m.ref_allele = 'G'
m.alt_allele = 'T'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(m['gene'] == "PNKD")
self.assertTrue(m['variant_classification'] == "Missense_Mutation")
gafDatasource.set_tx_mode(TranscriptProvider.TX_MODE_CANONICAL)
m = MutationDataFactory.default_create()
m.chr = '2'
m.start = '219137340'
m.end = '219137340'
m.ref_allele = 'G'
m.alt_allele = 'T'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(m['gene'] == "PNKD")
self.assertTrue(
m['variant_classification'] == "Intron",
"Canonical no longer is Intron. This test is no longer valid. This failure can come up when changing the GAF datasource."
)
def testMulticoreAnnotate(self):
"""Test a (too) simple annotating exercise from GAF on 2 cores"""
gafDatasource = TestUtils.createGafDatasourceProxy(self.config)
# Test pickling
dump(gafDatasource, file('out/testGAFPickle.pkl','w'))
m1 = MutationDataFactory.default_create()
m1.chr = '3'
m1.start = '178866811'
m1.end = '178866811'
m1.ref_allele = "A"
m1.alt_allele = "C"
m1.build = "hg19"
m2 = MutationDataFactory.default_create()
m2.chr = '3'
m2.start = '178866812'
m2.end = '178866812'
m2.ref_allele = "A"
m2.alt_allele = "C"
m2.build = "hg19"
p = LoggingPool(processes=2)
result = p.map(annotate_mutation_global, [(gafDatasource, m1), (gafDatasource, m2)])
p.close()
p.join()
for r in result:
self.assertTrue("transcript_id" in r.keys())
self.assertTrue("gene" in r.keys())
self.assertTrue(r["gene"] == "PIK3CA")
self.assertTrue(result[0].start != result[1].start)
def test_mutation_combiner(self):
"""Test that attributes and annotations are set properly with combine mutations"""
mut1 = MutationDataFactory.default_create(chr=1,
start=100,
end=100,
ref_allele="G",
alt_allele="A")
mut1.createAnnotation("SomeValue", "value1", "INPUT", "STRING",
"a value")
mut2 = MutationDataFactory.default_create(chr=1,
start=101,
end=101,
ref_allele="C",
alt_allele="T")
mut2.createAnnotation("SomeValue", "value2", tags=["IT"])
mut2.createAnnotation("AnotherValue", "5")
mdf = MutationDataFactory()
result = OnpQueue._combine_mutations([mut1, mut2], mdf)
expected = MutationDataFactory.default_create(chr=1,
start=100,
end=101,
ref_allele="GC",
alt_allele="AT")
expected.createAnnotation("SomeValue",
"value1|value2",
"INPUT",
"STRING",
"a value",
tags=["IT"])
expected.createAnnotation("AnotherValue", "5")
self.assertTrue(result.attributesEqual(expected))
self.assertEqual(result, expected)
def test_annotation_copy_collision(self):
"""Test that annotation copy will use the bahavior of the mutation in case of collision due to suffix"""
m1 = MutationDataFactory.default_create(chr="1",
start="10000",
end="10000")
m1.createAnnotation('ALT_F2R1', "30|36", annotationSource="TEST")
m1.createAnnotation('ALT_F2R1_full',
"going_to_be_overwritten",
annotationSource="TEST")
is_exception_seen = False
cc = ColumnCollapser()
try:
cc.update_mutation(m1, copy_old_suffix="_full")
except DuplicateAnnotationException as dae:
is_exception_seen = True
self.assertTrue(is_exception_seen,
"Did not see duplicate annotation exception")
m1 = MutationDataFactory.default_create(chr="1",
start="10000",
end="10000",
allow_overwriting=True)
m1.createAnnotation('ALT_F2R1', "30|36", annotationSource="TEST")
m1.createAnnotation('ALT_F2R1_full',
"going_to_be_overwritten",
annotationSource="TEST")
cc = ColumnCollapser()
cc.update_mutation(m1, copy_old_suffix="_full")
self.assertEqual(m1['ALT_F2R1_full'], "30|36")
self.assertEqual(m1['ALT_F2R1'], "30")
def test_continuous_exons_in_segments(self):
"""Test that all exons are accounted when annotating adjacent segments that skip an exon. """
# SPECC1L 10+ 22 24734447 SPECC1L 10+ 41783674 TEF 1- 1215.0 -0.04975556624325125 hg19 CESC.TCGA.BI.A0VR.Tumor.SM.1RACM
# SPECC1L 8- 22 16282318 POTEH 2- 24730543 SPECC1L 8- 433.0 -0.00781166374668759 hg19 CESC.TCGA.BI.A0VR.Tumor.SM.1RACM
# SPECC1L-ADORA2A 22 24734447 SPECC1L 10+ 41783674 TEF 1- 1215.0 -0.04975556624325125 hg19 CESC.TCGA.BI.A0VR.Tumor.SM.1RACM
seg1 = MutationDataFactory.default_create()
seg1.chr = "22"
seg1.start = "24734447" # Just passed the exon 9 (0-based)
seg1.end = "41783674"
seg2 = MutationDataFactory.default_create()
seg2.chr = "22"
seg2.start = "16282318"
seg2.end = "24730543" # Just passed the exon 8 (0-based)
segs = [seg1, seg2]
# 'ENST00000314328.9' for GENCODE v19
chosen_tx, transcript_ds = self._get_chosen_tx_and_transcript_ds(
seg1.chr, seg1.start)
result_tuple = transcript_ds._determine_exons_affected_by_start(
seg1.start, chosen_tx)
self.assertTrue(result_tuple == (10, '+'))
result_tuple = transcript_ds._determine_exons_affected_by_end(
seg2.end, chosen_tx)
self.assertTrue(result_tuple == (8, '-'))
def _simple_annotate(self, is_skip_no_alts):
runSpec = RunSpecification()
runSpec.initialize(None,
None,
datasources=[],
is_skip_no_alts=is_skip_no_alts)
# Initialize the annotator with the runspec
annotator = Annotator()
annotator.initialize(runSpec)
m = MutationDataFactory.default_create()
m.chr = "1"
m.start = "12941796"
m.end = "12941796"
m.alt_allele = "G"
m.ref_allele = "T"
m.createAnnotation("alt_allele_seen", "False")
m2 = MutationDataFactory.default_create()
m2.chr = "1"
m2.start = "12941796"
m2.end = "12941796"
m2.alt_allele = "G"
m2.ref_allele = "T"
muts = [m, m2]
muts = annotator.annotate_mutations(muts)
ctr = 0
for m in muts:
ctr += 1
return ctr
def test_small_positive_strand_transcript_change(self):
"""Test one location on a transcript and make sure that the transcript change rendered properly """
ds = TestUtils._create_test_gencode_v19_ds(
"out/small_positive_strand_")
# Now for a negative strand
m = MutationDataFactory.default_create()
m.chr = "22"
m.start = "22221730"
m.end = "22221730"
m.ref_allele = "T"
m.alt_allele = "G"
m2 = ds.annotate_mutation(m)
self.assertTrue(
m2['transcript_change'] == "c.1A>C",
"Incorrect transcript change: " + m2['transcript_change'])
# positive strand
m = MutationDataFactory.default_create()
m.chr = "3"
m.start = "178916614"
m.end = "178916614"
m.ref_allele = "G"
m.alt_allele = "T"
m2 = ds.annotate_mutation(m)
self.assertTrue(
m2['transcript_change'] == "c.1G>T",
"Incorrect transcript change: " + m2['transcript_change'])
def test_mutation_combiner_ordering(self):
"""Test that ordering of combined attributes makes matches original order"""
mut1 = MutationDataFactory.default_create(chr=1,
start=100,
end=100,
ref_allele="G",
alt_allele="A")
mut1.createAnnotation("SomeDepth", "2")
mut1.createAnnotation("AnotherDepth", "1")
mut2 = MutationDataFactory.default_create(chr=1,
start=101,
end=101,
ref_allele="C",
alt_allele="T")
mut2.createAnnotation("SomeDepth", "1")
mut2.createAnnotation("AnotherDepth", "2")
mdf = MutationDataFactory()
result = OnpQueue._combine_mutations([mut1, mut2], mdf)
expected = MutationDataFactory.default_create(chr=1,
start=100,
end=101,
ref_allele="GC",
alt_allele="AT")
expected.createAnnotation("SomeDepth", "2|1")
expected.createAnnotation("AnotherDepth", "1|2")
self.assertTrue(result.attributesEqual(expected))
self.assertEqual(result, expected)
def test_mutation_combiner_identical_annotation(self):
"""Test that annotations with all identical values are not repeated with | between them"""
mut1 = MutationDataFactory.default_create(chr=1,
start=100,
end=100,
ref_allele="G",
alt_allele="A")
mut1.createAnnotation("SampleName", "John Doe")
mut2 = MutationDataFactory.default_create(chr=1,
start=101,
end=101,
ref_allele="C",
alt_allele="T")
mut2.createAnnotation("SampleName", "John Doe")
mdf = MutationDataFactory()
result = OnpQueue._combine_mutations([mut1, mut2], mdf)
expected = MutationDataFactory.default_create(chr=1,
start=100,
end=101,
ref_allele="GC",
alt_allele="AT")
expected.createAnnotation("SampleName", "John Doe")
self.assertTrue(result.attributesEqual(expected))
self.assertEqual(result, expected)
def test_denovo(self):
"""GAF de novo test """
gafDatasource = TestUtils.createTranscriptProviderDatasource(
self.config)
m = MutationDataFactory.default_create()
m.start = str(22221735)
m.end = str(22221737)
m.chr = "22"
m.ref_allele = ''
m.alt_allele = 'CAT'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(
m['variant_classification'] == 'De_novo_Start_OutOfFrame')
m = MutationDataFactory.default_create()
m.start = str(22221735)
m.end = str(22221740)
m.chr = "22"
m.ref_allele = ''
m.alt_allele = 'AACATAA'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(
m['variant_classification'] == 'De_novo_Start_OutOfFrame')
m = MutationDataFactory.default_create()
m.start = str(22221735)
m.end = str(22221739)
m.chr = "22"
m.ref_allele = ''
m.alt_allele = 'ACATAA'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(m['variant_classification'] == 'De_novo_Start_InFrame')
def test_denovo(self):
"""GAF de novo test """
gafDatasource = TestUtils.createTranscriptProviderDatasource(self.config)
m = MutationDataFactory.default_create()
m.start = str(22221735)
m.end = str(22221737)
m.chr="22"
m.ref_allele = ''
m.alt_allele = 'CAT'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(m['variant_classification'] == 'De_novo_Start_OutOfFrame')
m = MutationDataFactory.default_create()
m.start = str(22221735)
m.end = str(22221740)
m.chr="22"
m.ref_allele = ''
m.alt_allele = 'AACATAA'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(m['variant_classification'] == 'De_novo_Start_OutOfFrame')
m = MutationDataFactory.default_create()
m.start = str(22221735)
m.end = str(22221739)
m.chr="22"
m.ref_allele = ''
m.alt_allele = 'ACATAA'
m = gafDatasource.annotate_mutation(m)
self.assertTrue(m['variant_classification'] == 'De_novo_Start_InFrame')
def testMulticoreAnnotate(self):
"""Test a (too) simple annotating exercise from GAF on 2 cores"""
gafDatasource = TestUtils.createGafDatasourceProxy(self.config)
# Test pickling
dump(gafDatasource, file('out/testGAFPickle.pkl', 'w'))
m1 = MutationDataFactory.default_create()
m1.chr = '3'
m1.start = '178866811'
m1.end = '178866811'
m1.ref_allele = "A"
m1.alt_allele = "C"
m1.build = "hg19"
m2 = MutationDataFactory.default_create()
m2.chr = '3'
m2.start = '178866812'
m2.end = '178866812'
m2.ref_allele = "A"
m2.alt_allele = "C"
m2.build = "hg19"
p = LoggingPool(processes=2)
result = p.map(annotate_mutation_global, [(gafDatasource, m1),
(gafDatasource, m2)])
p.close()
p.join()
for r in result:
self.assertTrue("transcript_id" in r.keys())
self.assertTrue("gene" in r.keys())
self.assertTrue(r["gene"] == "PIK3CA")
self.assertTrue(result[0].start != result[1].start)
def testRetrievePrecedingBasesForInsertions(self):
chrom = "1"
start = 1234567
end = 1234567 # incorrect, but doesn't matter for the purposed of testing
ref_allele = "GTC"
alt_allele = "GTCT"
build = "19"
mut = MutationDataFactory.default_create(chrom, start, end, ref_allele,
alt_allele, build)
preceding_bases, updated_alt_allele, updated_start, updated_end = \
MutUtils.retrievePrecedingBasesForInsertions(mut)
mut.ref_allele = "-"
mut.alt_allele = updated_alt_allele
mut.start = updated_start
mut.end = updated_end
mut.createAnnotation(
annotationName=MutUtils.PRECEDING_BASES_ANNOTATION_NAME,
annotationValue=preceding_bases)
self.assertTrue("_preceding_bases" in mut,
"_preceding_bases is missing in the mutation data.")
self.assertTrue(mut.start == 1234569,
"Mut start should be 1234570 but was %s." % mut.start)
self.assertTrue(mut.end == 1234570,
"Mut end should be 1234570 but was %s." % mut.end)
self.assertTrue(mut.ref_allele == "-",
"Ref allele should be - but was %s." % mut.ref_allele)
self.assertTrue(mut.alt_allele == "T",
"Alt allele should be T but was %s." % mut.alt_allele)
chrom = "1"
start = 1234567
end = 1234567 # incorrect, but doesn't matter for the purposed of testing
ref_allele = "GTC"
alt_allele = "GTCTT"
build = "19"
mut = MutationDataFactory.default_create(chrom, start, end, ref_allele,
alt_allele, build)
preceding_bases, updated_alt_allele, updated_start, updated_end = \
MutUtils.retrievePrecedingBasesForInsertions(mut)
mut.ref_allele = "-"
mut.alt_allele = updated_alt_allele
mut.start = updated_start
mut.end = updated_end
mut.createAnnotation(
annotationName=MutUtils.PRECEDING_BASES_ANNOTATION_NAME,
annotationValue=preceding_bases)
self.assertTrue("_preceding_bases" in mut,
"_preceding_bases is missing in the mutation data.")
self.assertTrue(mut.start == 1234569,
"Mut start should be 1234570 but was %s." % mut.start)
self.assertTrue(mut.end == 1234570,
"Mut end should be 1234571 but was %s." % mut.end)
self.assertTrue(mut.ref_allele == "-",
"Ref allele should be - but was %s." % mut.ref_allele)
self.assertTrue(mut.alt_allele == "TT",
"Alt allele should be TT but was %s." % mut.alt_allele)
def test_mutation_combiner(self):
"""Test that attributes and annotations are set properly with combine mutations"""
mut1 = MutationDataFactory.default_create(chr=1,start=100, end=100, ref_allele="G", alt_allele="A")
mut1.createAnnotation("SomeValue", "value1", "INPUT", "STRING", "a value")
mut2 = MutationDataFactory.default_create(chr=1,start=101, end=101, ref_allele="C", alt_allele="T")
mut2.createAnnotation("SomeValue", "value2", tags=["IT"])
mut2.createAnnotation("AnotherValue","5")
mdf = MutationDataFactory()
result = OnpQueue._combine_mutations([mut1, mut2], mdf)
expected = MutationDataFactory.default_create(chr=1, start=100, end=101, ref_allele="GC", alt_allele="AT")
expected.createAnnotation("SomeValue", "value1|value2", "INPUT", "STRING", "a value", tags=["IT"])
expected.createAnnotation("AnotherValue", "5")
self.assertTrue(result.attributesEqual(expected))
self.assertEqual(result, expected)
def test_mutation_combiner_identical_annotation(self):
"""Test that annotations with all identical values are not repeated with | between them"""
mut1 = MutationDataFactory.default_create(chr=1,start=100, end=100, ref_allele="G", alt_allele="A")
mut1.createAnnotation("SampleName", "John Doe")
mut2 = MutationDataFactory.default_create(chr=1,start=101, end=101, ref_allele="C", alt_allele="T")
mut2.createAnnotation("SampleName", "John Doe" )
mdf = MutationDataFactory()
result = OnpQueue._combine_mutations([mut1, mut2], mdf)
expected = MutationDataFactory.default_create(chr=1, start=100, end=101, ref_allele="GC", alt_allele="AT")
expected.createAnnotation("SampleName", "John Doe")
self.assertTrue(result.attributesEqual(expected))
self.assertEqual(result, expected)
def test_canonical_tx_list(self):
"""Test that specifying the canonical list will actually change the transcript selected. """
ds = TestUtils._create_test_gencode_v19_ds(
"out/test_canonical_tx_list_")
m = MutationDataFactory.default_create()
m.chr = "22"
m.start = "22142650"
m.end = "22142650"
m.ref_allele = "T"
m.alt_allele = "A"
ds.set_custom_canonical_txs(["ENST00000544786"])
ds.set_tx_mode(TranscriptProvider.TX_MODE_BEST_EFFECT)
# NOTE: tx list overrides best effect
m2 = ds.annotate_mutation(m)
self.assertTrue(
m2['annotation_transcript'].startswith("ENST00000544786"))
self.assertTrue(
m2['variant_classification'] == VariantClassification.INTRON)
ds.set_custom_canonical_txs([])
m2 = ds.annotate_mutation(m)
self.assertTrue(
m2['variant_classification'] == VariantClassification.MISSENSE)
self.assertFalse(
m2['annotation_transcript'].startswith("ENST00000544786"))
def testdbNSFPNoRefAltAnnotationWithExactMatch(self):
"""
"""
self.logger.info("Initializing dbNSFP")
tabixIndexedTsvDirName = os.path.join(*["testdata", "dbNSFP_chr1_chr3_100vars_exact_no_ref_alt_ds", "hg19"])
tabixIndexedTsvDatasource = DatasourceFactory.createDatasource(
os.path.join(tabixIndexedTsvDirName, "dbNSFP_chr1_chr3_100vars_exact_no_ref_alt_ds.config"),
tabixIndexedTsvDirName)
m1 = MutationDataFactory.default_create()
m1.chr = "1"
m1.start = "35140"
m1.end = "35140"
m1_annotated = tabixIndexedTsvDatasource.annotate_mutation(m1)
m1_annotation = m1_annotated.getAnnotation("dbNSFP_codonpos")
cur_annotation = Annotation(value="1|1|1", datasourceName="dbNSFP", dataType="String",
description="", tags=[TagConstants.INFO, TagConstants.NOT_SPLIT], number=None)
self.assertTrue(m1_annotation.isEqual(cur_annotation), "Annotations do not match.")
m1_annotation = m1_annotated.getAnnotation("dbNSFP_refcodon")
cur_annotation = Annotation(value="TAA|TAA|TAA", datasourceName="dbNSFP", dataType="String",
description="", tags=[TagConstants.INFO, TagConstants.NOT_SPLIT], number=None)
self.assertTrue(m1_annotation.isEqual(cur_annotation), "Annotations do not match.")
m1_annotation = m1_annotated.getAnnotation("dbNSFP_cds_strand")
cur_annotation = Annotation(value="-|-|-", datasourceName="dbNSFP", dataType="String",
description="", tags=[TagConstants.INFO, TagConstants.NOT_SPLIT], number=None)
self.assertTrue(m1_annotation.isEqual(cur_annotation), "Annotations do not match.")
def testAnnotateListOfMutations(self):
"""Test that we can initialize an Annotator, without an input or output and then feed mutations,
one at a time... using a runspec"""
# Locate the datasource directory and create a runspec
dbDir = self.config.get("DEFAULT", "dbDir")
ds = DatasourceFactory.createDatasources(dbDir)
runSpec = RunSpecification()
runSpec.initialize(None, None, datasources=ds)
# Initialize the annotator with the runspec
annotator = Annotator()
annotator.initialize(runSpec)
m = MutationDataFactory.default_create()
m.chr = "1"
m.start = "12941796"
m.end = "12941796"
m.alt_allele = "G"
m.ref_allele = "T"
muts = [m]
muts = annotator.annotate_mutations(muts)
m2 = muts.next()
self.assertTrue(m2.get("gene", None) is not None)
def testESPCoverageAnnotationWithSNPAvgMatch(self):
"""
"""
self.logger.info("Initializing ESP6500SI-V2 Coverage")
tabixIndexedTsvDirName = os.path.join(*["testdata", "small_esp_coverage_avg_ds", "hg19"])
tabixIndexedTsvDatasource = DatasourceFactory.createDatasource(
os.path.join(tabixIndexedTsvDirName, "small_esp_coverage_avg_ds.config"), tabixIndexedTsvDirName)
m1 = MutationDataFactory.default_create()
m1.chr = "X"
m1.start = "100075334"
m1.end = "100075334"
m1_annotated = tabixIndexedTsvDatasource.annotate_mutation(m1)
m1_annotation = m1_annotated.getAnnotation("ESP_AvgAAsampleReadDepth")
cur_annotation = Annotation(value="75.0", datasourceName="ESP", dataType="Float",
description="", tags=[TagConstants.INFO, TagConstants.NOT_SPLIT], number=None)
self.assertTrue(m1_annotation.isEqual(cur_annotation), "Annotations do not match.")
m1_annotation = m1_annotated.getAnnotation("ESP_TotalAAsamplesCovered")
cur_annotation = Annotation(value="692.0", datasourceName="ESP", dataType="Float",
description="", tags=[TagConstants.INFO, TagConstants.NOT_SPLIT], number=None)
self.assertTrue(m1_annotation.isEqual(cur_annotation), "Annotations do not match.")
m1_annotation = m1_annotated.getAnnotation("ESP_Chromosome")
cur_annotation = Annotation(value="X", datasourceName="ESP", dataType="String",
description="", tags=[TagConstants.INFO, TagConstants.NOT_SPLIT], number=None)
self.assertTrue(m1_annotation.isEqual(cur_annotation), "Annotations do not match.")
def test_appris_selects_transcript(self):
m = MutationDataFactory.default_create(chr="2", start="201722365", end="201722366", ref_allele="AC", alt_allele="-", build="hg19")
transcript_ds = TestUtils.createTranscriptProviderDatasource(self.config)
m = transcript_ds.annotate_mutation(m)
tx = transcript_ds.get_transcript(m['annotation_transcript'])
self.assertTrue(tx is not None, "Transcript was None when it should have been found. Does the ground truth transcript above need to be updated?")
self.assertEqual(tx._transcript_id,'ENST00000321356.4')
def testExtentOutOfRangeError(self):
''' If a window is specified that extends beyond the beginning or end of a file, truncate the ref_context.
Use what is left for gc_content as well.'''
ds = ReferenceDatasource('testdata/reference_ds',
windowSizeRef=6,
windowSizeGCContent=5)
m = MutationDataFactory.default_create()
m.chr = "22"
m.start = "4"
m.end = "4"
# "CCCAAGCTAAACCCAGGCCAC"
groundTruth = "CCCAAGCTAA"
guess = ds.annotate_mutation(m)
self.assertTrue(
guess['ref_context'] == groundTruth,
"ref_context was not populated properly: " +
str(guess['ref_context']))
# gc_content is rounded to 3 decimal places
self.assertTrue(
fabs(float(guess['gc_content']) - (float(5) / float(9))) < .001,
"gc_content was not populated properly: " +
str(guess['gc_content']))
def testESPCoverageAnnotationWithMissingAnnotationValuesIndelAvgMatch(
self):
"""
"""
self.logger.info("Initializing ESP6500SI-V2 Coverage")
tabixIndexedTsvDirName = os.path.join(
*["testdata", "small_esp_coverage_avg_ds", "hg19"])
tabixIndexedTsvDatasource = DatasourceFactory.createDatasource(
os.path.join(tabixIndexedTsvDirName,
"small_esp_coverage_avg_ds.config"),
tabixIndexedTsvDirName)
m1 = MutationDataFactory.default_create()
m1.chr = "X"
m1.start = "100075350"
m1.end = "100075356"
m1_annotated = tabixIndexedTsvDatasource.annotate_mutation(m1)
m1_annotation = m1_annotated.getAnnotation("ESP_AvgSampleReadDepth")
cur_annotation = Annotation(
value="91.25",
datasourceName="ESP",
dataType="Float",
description="",
tags=[TagConstants.INFO, TagConstants.NOT_SPLIT],
number=None)
self.assertTrue(m1_annotation.isEqual(cur_annotation),
"Annotations do not match.")
def testMixedAnnotation(self):
"""Test that the COSMIC datasource can retrieve entries by both gp and gpp."""
tabixDir = "testdata/small_cosmic_with_gp_and_gpp/"
cosmicDS = Cosmic(
src_file=tabixDir + "small_cosmic_trimmed_for_sorting.txt.tbi.gz",
title="Cosmic",
version="test",
gpp_tabix_file=tabixDir +
"small_cosmic_trimmed_for_sorting.txt.tbi.byAA.sorted.tsv.gz")
# These values are not taken from a real world scenario, but are cooked for this test.
# Line 9 should get picked up genomic coords
# Lines 7,8 should get picked up by the protein position
m = MutationDataFactory.default_create()
m.createAnnotation("gene", "A2M")
m.createAnnotation("transcript_protein_position_start", "1300")
m.createAnnotation("transcript_protein_position_end", "1400")
m.chr = '12'
m.start = '9227220'
m.end = '9227230'
m = cosmicDS.annotate_mutation(m)
self.assertTrue(m['COSMIC_n_overlapping_mutations'] == '3')
self.assertTrue(
m['COSMIC_overlapping_mutation_AAs'].find('1229') != -1,
"Could not find the entry specified by genomic coords.")
self.assertTrue(
m['COSMIC_overlapping_primary_sites'] == "lung(3)",
"Did not have the correct primary sites annotation (lung(3)): " +
m['COSMIC_overlapping_primary_sites'])
def testSpliceSiteWithinNBases(self):
"""Test that a silent mutation is changed to splice site w/in 10 bases of a splice site """
# chr21:10,998,326-10,998,346
# 10,998,336 is a splice site. (Junction between 10998335 and 336)
# AGTTCTCCTT C TGGAAAAAAG
refs = 'AGTTCTCCTTCTGGAAAAAAG'
alts = 'TCAGACTGAAAATACCCCCCT'
gafDatasource = TestUtils.createTranscriptProviderDatasource(self.config)
vcs = []
for s in range(10998326, 10998347):
m = MutationDataFactory.default_create()
m.start = str(s)
m.end = str(s)
m.chr = "21"
m.ref_allele = refs[s - 10998326]
m.alt_allele = alts[s - 10998326]
m = gafDatasource.annotate_mutation(m)
distanceFromSpliceSite = abs(10998336 - int(m.start))
vc = m['variant_classification']
self.assertTrue(vc != 'Silent', 'Silent mutation found when it should be a splice site.')
vcs.append(vc)
print vc + " " + m.start
self.assertTrue(all([tmp == "Splice_Site" for tmp in vcs[8:12]]), "Not all vcs within 2 bases were splice site: " + str(vcs[8:12]))
self.assertTrue(all([tmp != "Splice_Site" for tmp in vcs[0:8]]), "No splice sites should be seen: " + str(vcs[0:8]))
self.assertTrue(all([tmp != "Splice_Site" for tmp in vcs[12:20]]), "No splice sites should be seen: " + str(vcs[12:20]))
def test_not_updating_annotation_source(self):
"""Test that do not have to update annotation source if columns are collapsed"""
m1 = MutationDataFactory.default_create(chr="1", start="10000", end="10000")
m1.createAnnotation('ALT_F2R1', "|36", annotationSource="TEST")
cc = ColumnCollapser()
cc.update_mutation(m1)
self.assertEqual(m1.getAnnotation("ALT_F2R1").getDatasource(), "TEST")
def testFlank(self):
"""Test that we can see a Flank mutation."""
#chr1:28,233,780-28,233,805 Junction is at chr1:28,233,793 & 94
#
refs = "TGGGCTCGGGCTCTCTGAAAAGAAAA"
alts = "TGGGCTCAGGCTCTCTGAAAAGAAAA"
vcs = []
gafDatasource = TestUtils.createTranscriptProviderDatasource(self.config)
numSpliceSites = 0
numSilent = 0
startWindow = 11042200
for s in range(startWindow, startWindow+len(refs)):
m = MutationDataFactory.default_create()
m.start = str(s)
m.end = str(s)
m.chr="1"
m.ref_allele = refs[s-startWindow]
m.alt_allele = alts[s-startWindow]
m = gafDatasource.annotate_mutation(m)
vc = m['variant_classification']
vcs.append(vc)
print vc + " " + m.start
pass
def test_validation_correction_valid(self):
""" Test that the validation allele fields are determined automatically when not specified by the user for a valid mutation.
"""
m = MutationDataFactory.default_create()
m.chr = "3"
m.start = "178948145"
m.end = "178948145"
m.alt_allele = "A"
m.ref_allele = "G"
m['validation_status'] = "Valid"
m['Match_Norm_Validation_Allele1'] = ""
m['Match_Norm_Validation_Allele2'] = ""
m['Tumor_Validation_Allele1'] = ""
m['Tumor_Validation_Allele2'] = ""
m['Mutation_Status'] = "Somatic"
output_filename = os.path.join("out", "test_validation_correction2.maf.tsv")
outputRenderer = TcgaMafOutputRenderer(output_filename,
configFile=os.path.join("configs", "tcgaMAF2.4_output.config"))
outputRenderer.renderMutations([m].__iter__())
tsv_reader = GenericTsvReader(output_filename)
for line_dict in tsv_reader:
self.assertTrue(line_dict['Match_Norm_Validation_Allele1'] == line_dict['Match_Norm_Validation_Allele2'], "Matched norm alleles did not match.")
self.assertTrue(line_dict['Tumor_Validation_Allele1'] == line_dict['Reference_Allele'], "Tumor validation allele 1 did not match reference for a valid validation result.")
self.assertTrue(line_dict['Tumor_Validation_Allele2'] == line_dict['Tumor_Seq_Allele2'], "Tumor validation allele 2 did not match Tumor_Seq_Allele2 for a valid validation result.")
self.assertTrue(line_dict['Match_Norm_Validation_Allele1'] == line_dict['Tumor_Validation_Allele1'], "Tumor allele 1 did not match normal alleles for a valid validation result.")
self.assertTrue(line_dict['Match_Norm_Validation_Allele1'] == line_dict['Reference_Allele'], "Norm validation alleles did not match reference (norm, reference): (%s, %s)" %(line_dict['Match_Norm_Validation_Allele1'] ,line_dict['Reference_Allele']) )
self.assertTrue("G" == line_dict['Reference_Allele'], "Reference allele should have been G, but was " + line_dict['Reference_Allele'])
self.assertTrue("A" == line_dict['Tumor_Seq_Allele2'], "Alt allele should have been A, but was " + line_dict['Tumor_Seq_Allele2'])
def testAddTag(self):
''' Test adding a tag to an annotation '''
m = MutationDataFactory.default_create()
m.createAnnotation("fake1", "1")
m.addTagToAnnotation("fake1", "fakeTag")
self.assertTrue("fakeTag" in m.getAnnotation("fake1").getTags(),
"Tag was not added properly.")
def testAnnotateListOfMutations(self):
"""Test that we can initialize an Annotator, without an input or output and then feed mutations,
one at a time... using a runspec"""
# Locate the datasource directory and create a runspec
dbDir = self.config.get("DEFAULT", "dbDir")
ds = DatasourceFactory.createDatasources(dbDir)
runSpec = RunSpecification()
runSpec.initialize(None, None, datasources=ds)
# Initialize the annotator with the runspec
annotator = Annotator()
annotator.initialize(runSpec)
m = MutationDataFactory.default_create()
m.chr = "1"
m.start = "12941796"
m.end = "12941796"
m.alt_allele = "G"
m.ref_allele = "T"
muts = [m]
muts = annotator.annotate_mutations(muts)
m2 = muts.next()
self.assertTrue(m2.get("gene", None) is not None)
def testFlank(self):
"""Test that we can see a Flank mutation."""
#chr1:28,233,780-28,233,805 Junction is at chr1:28,233,793 & 94
#
refs = "TGGGCTCGGGCTCTCTGAAAAGAAAA"
alts = "TGGGCTCAGGCTCTCTGAAAAGAAAA"
vcs = []
gafDatasource = TestUtils.createTranscriptProviderDatasource(
self.config)
numSpliceSites = 0
numSilent = 0
startWindow = 11042200
for s in range(startWindow, startWindow + len(refs)):
m = MutationDataFactory.default_create()
m.start = str(s)
m.end = str(s)
m.chr = "1"
m.ref_allele = refs[s - startWindow]
m.alt_allele = alts[s - startWindow]
m = gafDatasource.annotate_mutation(m)
vc = m['variant_classification']
vcs.append(vc)
print vc + " " + m.start
pass
def testSilentMutationGoingToSpliceSite(self):
"""Test that a silent mutation within 10 bp of a splice junction should become a splice site"""
#chr1:28,233,780-28,233,805 Junction is at chr1:28,233,793 & 94
#
refs = "TGGGCTCGGGCTCTCTGAAAAGAAAA"
alts = "TGGGCTCAGGCTCGCTGAAAAGAAAA"
vcs = []
gafDatasource = TestUtils.createTranscriptProviderDatasource(self.config)
numSpliceSites = 0
numSilent = 0
startWindow = 28233780
for s in range(startWindow, 28233806):
m = MutationDataFactory.default_create()
m.start = str(s)
m.end = str(s)
m.chr = "1"
m.ref_allele = refs[s - startWindow]
m.alt_allele = alts[s - startWindow]
m = gafDatasource.annotate_mutation(m)
distanceFromSpliceSite = abs(28233793 - int(m.start))
vc = m['variant_classification']
vcs.append(vc)
# self.assertTrue(vc <> 'Silent', 'Silent mutation found when it should be a splice site.')
if vc.lower() == "splice_site":
numSpliceSites += 1
if vc.lower() == "silent":
numSilent += 1
print vc + " " + m.start + " " + str(distanceFromSpliceSite)
self.assertTrue(numSpliceSites == 4, "Should have seen 4 splice site mutations, but saw: " + str(numSpliceSites))
self.assertTrue(numSilent == 11, "Should have seen 11 Silent mutations, but saw: " + str(numSilent))
def test_range_fetch(self):
m = MutationDataFactory.default_create()
m.createAnnotation('chr', '1')
m.createAnnotation('start', 78978)
m.createAnnotation('end', 79000)
self.bigwig_datasource.annotate_mutation(m)
self.assertEqual(m.get('TestBigWig_score'), 0.75)
def testPickleable(self):
"""Test that a near-empty MutationData can be pickled"""
m = MutationDataFactory.default_create()
m.chr = "2"
m.createAnnotation("fake1", "1")
m.addTagToAnnotation("fake1", "fakeTag")
import cPickle
cPickle.dump(m, open("out/testMDPickle.pkl", 'w'))
def testPickleable(self):
"""Test that a near-empty MutationData can be pickled"""
m = MutationDataFactory.default_create()
m.chr = "2"
m.createAnnotation("fake1", "1")
m.addTagToAnnotation("fake1", "fakeTag")
import cPickle
cPickle.dump(m, open("out/testMDPickle.pkl", 'w'))
def testIter(self):
m = MutationDataFactory.default_create()
m.createAnnotation("fake1", "1")
m.createAnnotation("fake2", "blah blah")
for k in m:
self.assertTrue((k in ["fake1", "fake2"])
or (k in MutationData.attributes),
"Key not present: " + k)
def test_not_updating_annotation_source(self):
"""Test that do not have to update annotation source if columns are collapsed"""
m1 = MutationDataFactory.default_create(chr="1",
start="10000",
end="10000")
m1.createAnnotation('ALT_F2R1', "|36", annotationSource="TEST")
cc = ColumnCollapser()
cc.update_mutation(m1)
self.assertEqual(m1.getAnnotation("ALT_F2R1").getDatasource(), "TEST")
def test_mutation_combiner_ordering(self):
"""Test that ordering of combined attributes makes matches original order"""
mut1 = MutationDataFactory.default_create(chr=1,start=100, end=100, ref_allele="G", alt_allele="A")
mut1.createAnnotation("SomeDepth", "2")
mut1.createAnnotation("AnotherDepth", "1")
mut2 = MutationDataFactory.default_create(chr=1,start=101, end=101, ref_allele="C", alt_allele="T")
mut2.createAnnotation("SomeDepth", "1" )
mut2.createAnnotation("AnotherDepth", "2")
mdf = MutationDataFactory()
result = OnpQueue._combine_mutations([mut1, mut2], mdf)
expected = MutationDataFactory.default_create(chr=1, start=100, end=101, ref_allele="GC", alt_allele="AT")
expected.createAnnotation("SomeDepth", "2|1")
expected.createAnnotation("AnotherDepth","1|2")
self.assertTrue(result.attributesEqual(expected))
self.assertEqual(result, expected)
def testRetrievePrecedingBaseFromAnnotationForInsertions(self):
chrom = "1"
start = 1234567
end = 1234567 # incorrect, but doesn't matter for the purposed of testing
ref_allele = "GTC"
alt_allele = "GTCT"
build = "19"
mut = MutationDataFactory.default_create(chrom, start, end, ref_allele, alt_allele, build)
preceding_bases, updated_alt_allele, updated_start, updated_end = \
MutUtils.retrievePrecedingBasesForInsertions(mut)
mut.ref_allele = "-"
mut.alt_allele = updated_alt_allele
mut.start = updated_start
mut.end = updated_end
mut.createAnnotation(annotationName=MutUtils.PRECEDING_BASES_ANNOTATION_NAME, annotationValue=preceding_bases)
updated_ref_allele, updated_alt_allele, updated_start = \
MutUtils.retrievePrecedingBaseFromAnnotationForInsertions(mut)
self.assertTrue(updated_start == start, "Mut start should be %s but was %s." % (start, updated_start))
self.assertTrue(updated_ref_allele == ref_allele, "Ref allele should be %s but was %s."
% (ref_allele, updated_ref_allele))
self.assertTrue(updated_alt_allele == alt_allele, "Alt allele should be %s but was %s."
% (alt_allele, updated_alt_allele))
chrom = "1"
start = 1234567
end = 1234567 # incorrect, but doesn't matter for the purposed of testing
ref_allele = "GTC"
alt_allele = "GTCTT"
build = "19"
mut = MutationDataFactory.default_create(chrom, start, end, ref_allele, alt_allele, build)
preceding_bases, updated_alt_allele, updated_start, updated_end = \
MutUtils.retrievePrecedingBasesForInsertions(mut)
mut.ref_allele = "-"
mut.alt_allele = updated_alt_allele
mut.start = updated_start
mut.end = updated_end
mut.createAnnotation(annotationName=MutUtils.PRECEDING_BASES_ANNOTATION_NAME, annotationValue=preceding_bases)
updated_ref_allele, updated_alt_allele, updated_start = \
MutUtils.retrievePrecedingBaseFromAnnotationForInsertions(mut)
self.assertTrue(updated_start == start, "Mut start should be %s but was %s." % (start, updated_start))
self.assertTrue(updated_ref_allele == ref_allele, "Ref allele should be %s but was %s."
% (ref_allele, updated_ref_allele))
self.assertTrue(updated_alt_allele == alt_allele, "Alt allele should be %s but was %s."
% (alt_allele, updated_alt_allele))
def test_validation_correction(self):
""" Test that the validation allele fields are determined automatically when not specified by the user for invalid mutation.
"""
m = MutationDataFactory.default_create()
m.chr = "3"
m.start = "178948145"
m.end = "178948145"
m.alt_allele = "A"
m.ref_allele = "G"
m['validation_status'] = "Invalid"
m['Match_Norm_Validation_Allele1'] = ""
m['Match_Norm_Validation_Allele2'] = ""
m['Tumor_Validation_Allele1'] = ""
m['Tumor_Validation_Allele2'] = ""
m['Mutation_Status'] = "Somatic"
output_filename = os.path.join("out",
"test_validation_correction1.maf.tsv")
outputRenderer = TcgaMafOutputRenderer(output_filename,
configFile=os.path.join(
"configs",
"tcgaMAF2.4_output.config"))
outputRenderer.renderMutations([m].__iter__())
tsv_reader = GenericTsvReader(output_filename)
for line_dict in tsv_reader:
self.assertTrue(
line_dict['Match_Norm_Validation_Allele1'] ==
line_dict['Match_Norm_Validation_Allele2'],
"Matched norm alleles did not match.")
self.assertTrue(
line_dict['Tumor_Validation_Allele1'] ==
line_dict['Tumor_Validation_Allele2'],
"Tumor alleles did not match for an invalid validation result."
)
self.assertTrue(
line_dict['Match_Norm_Validation_Allele1'] ==
line_dict['Tumor_Validation_Allele2'],
"Tumor alleles did not match normal alleles for an invalid validation result."
)
self.assertTrue(
line_dict['Match_Norm_Validation_Allele1'] ==
line_dict['Reference_Allele'],
"Norm validation alleles did not match reference (norm, reference): (%s, %s)"
% (line_dict['Match_Norm_Validation_Allele1'],
line_dict['Reference_Allele']))
self.assertTrue(
"G" == line_dict['Reference_Allele'],
"Reference allele should have been G, but was " +
line_dict['Reference_Allele'])
self.assertTrue(
"None" == line_dict['Mutation_Status'],
"Mutation Status must be None when Validation Status is Invalid: "
+ line_dict['Mutation_Status'])
def testMissingAnnotations(self):
''' Tests that if the required annotations ("gene", "protein_change", and "other_transcripts") are missing, an exception is thrown.
'''
datasource = GenericGeneProteinPositionDatasource("testdata/simple_uniprot_natvar/simple_uniprot_natvar.tsv", title="SmallNatVar", version="test")
m = MutationDataFactory.default_create()
m.createAnnotation("gene", "TP53")
#m.createAnnotation("protein_change", "p.S376C")
self.assertRaisesRegexp(MissingAnnotationException, "protein_change", datasource.annotate_mutation, m)
def testBasicGeneTSVInit(self):
""" Make sure that we can initialize a simple tsv data source """
geneDS = DatasourceFactory.createDatasource("testdata/small_tsv_ds/small_tsv_ds.config", "testdata/small_tsv_ds/")
self.assertTrue(geneDS <> None, "gene indexed datasource was None.")
m = MutationDataFactory.default_create()
m.createAnnotation('gene',"ABL1")
m = geneDS.annotate_mutation(m)
self.assertTrue(m['CGC_Abridged_Name'] == "v-abl Abelson murine leukemia viral oncogene homolog 1","Test gene TSV datasource did not annotate properly.")
def testSetValues(self):
m = MutationDataFactory.default_create()
m.createAnnotation("fake1", "1")
m.createAnnotation("fake2", "blah blah")
self.assertTrue(m["fake1"] == "1", "Could not properly retrieve annotation using the dictionary interface. " + str(m["fake1"]))
self.assertTrue(m["fake2"] == "blah blah", "Could not properly retrieve annotation using the dictionary interface. " + str(m["fake2"]))
m["fake2"] = "Whoa"
self.assertTrue(m["fake2"] == "Whoa", "Could not properly retrieve annotation using the dictionary interface, after a value change.")
print(str(m))
def test_annotation_copy(self):
"""Test that we can create a backup annotation with the old values after collapsing, if requested."""
m1 = MutationDataFactory.default_create(chr="1", start="10000", end="10000")
m1.createAnnotation('ALT_F2R1', "|36", annotationSource="TEST")
cc = ColumnCollapser()
cc.update_mutation(m1, new_annotation_source="foo", copy_old_suffix="_full")
self.assertEqual(m1["ALT_F2R1_full"], "|36")
self.assertEqual(m1["ALT_F2R1"], "36")
self.assertEqual(m1.getAnnotation("ALT_F2R1_full").getDatasource(), "TEST")
self.assertTrue(m1.getAnnotation("ALT_F2R1").getDatasource() != m1.getAnnotation("ALT_F2R1_full").getDatasource())
def test_cached_annots_dummy_cache(self):
"""Test dummy cache. Also, tests a simple store and retrieve, which should be None."""
cm = CacheManager()
fake_db_dir_key = "blah"
cm.initialize(None, fake_db_dir_key, is_read_only=False)
m = MutationDataFactory.default_create()
m.createAnnotation("blah1", "val1", annotationSource="INPUT")
m.createAnnotation("blah2", "val5", annotationSource="some_datasource")
cm.store_annotations_in_cache(m)
annots = cm.retrieve_cached_annotations(m)
self.assertTrue(annots is None)
def test_not_5_prime_flank_annotation_positive_strand(self):
m = MutationDataFactory.default_create(chr="3",
start="180625088",
end="180625088",
ref_allele="C",
alt_allele="A",
build="hg19")
transcript_ds = TestUtils.createTranscriptProviderDatasource(
self.config)
m = transcript_ds.annotate_mutation(m)
self.assertEqual(m['variant_classification'], "IGR")
def test_3_prime_flank_annotation_negative_strand(self):
m = MutationDataFactory.default_create(chr="5",
start="1253255",
end="1253255",
ref_allele="A",
alt_allele="T",
build="hg19")
transcript_ds = TestUtils.createTranscriptProviderDatasource(
self.config)
m = transcript_ds.annotate_mutation(m)
self.assertEqual(m['variant_classification'], "3'Flank")
def test_cached_annots_dummy_cache(self):
"""Test dummy cache. Also, tests a simple store and retrieve, which should be None."""
cm = CacheManager()
fake_db_dir_key = "blah"
cm.initialize(None, fake_db_dir_key, is_read_only=False)
m = MutationDataFactory.default_create()
m.createAnnotation("blah1", "val1", annotationSource="INPUT")
m.createAnnotation("blah2", "val5", annotationSource="some_datasource")
cm.store_annotations_in_cache(m)
annots = cm.retrieve_cached_annotations(m)
self.assertTrue(annots is None)
def testDatasourceCreator(self):
""" Test that the datasource creator process will work for v1 of TranscriptToUniProtProteinPositionTransformingDatasource. NOTE: This test needs to be updated to use sqlite instead of filesystem file.
"""
tDS = DatasourceFactory.createDatasource("testdata/small_uniprot_prot_seq_ds/small_uniprot_prot_seq_ds.config", "testdata/small_uniprot_prot_seq_ds/")
outputAnnotation = "UniProt_aapos"
m = MutationDataFactory.default_create()
m.createAnnotation('transcript_id', 'uc009vvt.1')
m.createAnnotation('protein_change', 'p.T1105A')
m = tDS.annotate_mutation(m)
self.assertTrue(m[outputAnnotation] == "969", "Did not get proper value (969): " + m[outputAnnotation])
def testHeaderCreation(self):
"""Test that a tcga vcf header can be generated, even from a blank mutation. """
vcfOR = TcgaVcfOutputRenderer("out/TCGAVCFHeader.out.txt")
m = MutationDataFactory.default_create()
m.createAnnotation('center', "broad.mit.edu")
hdr = vcfOR.createVcfHeader(m)
self.assertTrue(hdr is not None)
self.assertTrue(hdr <> "")
self.assertTrue(
hdr.find("broad.mit.edu") <> -1,
"Could not find string that should have been in header.")
def testAnnotationSourceIsPopulated(self):
''' Tests that the annotation source is not blank for the example tsv datasource. '''
geneDS = DatasourceFactory.createDatasource("testdata/small_tsv_ds/small_tsv_ds.config", "testdata/small_tsv_ds/")
self.assertTrue(geneDS <> None, "gene indexed datasource was None.")
m = MutationDataFactory.default_create()
m.createAnnotation('gene',"ABL1")
m = geneDS.annotate_mutation(m)
self.assertTrue(m['CGC_Abridged_Name'] == "v-abl Abelson murine leukemia viral oncogene homolog 1","Test gene TSV datasource did not annotate properly.")
self.assertTrue(m.getAnnotation('CGC_Abridged_Name').getDatasource() <> "Unknown", "Annotation source was unknown")
self.assertTrue(m.getAnnotation('CGC_Abridged_Name').getDatasource().strip() <> "", "Annotation source was blank")
def test_no_data_fetch(self):
"""Test for value not found in bigwig. In this case, our test bigwig only has data for
chr1 so None is expected return value.
"""
m = MutationDataFactory.default_create()
m.createAnnotation('chr', '13')
m.createAnnotation('start', 78978)
m.createAnnotation('end', 79000)
self.bigwig_datasource.annotate_mutation(m)
self.assertEqual(m.get('TestBigWig_score'), None)
def annotate_genes_given_txs(self, txs):
"""
Given a list of Transcripts, create and annotate dummy mutations that represent only the gene.
:param txs: list of Transcripts
:type txs: list
:return:
"""
gene_to_tx_dict = {}
for tx in txs:
try:
gene_to_tx_dict[tx.get_gene()].append(tx)
except KeyError:
gene_to_tx_dict[tx.get_gene()] = [tx]
genes = set(gene_to_tx_dict.keys())
genes = sorted(list(genes))
muts_dict = {}
for gene in genes:
m = MutationDataFactory.default_create()
m.createAnnotation("gene", gene)
m.createAnnotation("transcripts", ",".join(sorted([tx.get_transcript_id() for tx in gene_to_tx_dict[gene]])))
m.createAnnotation("strand", gene_to_tx_dict[gene][0].get_strand())
m.createAnnotation("class", gene_to_tx_dict[gene][0].get_gene_type())
endAA = str(max([len(tx.get_protein_seq()) for tx in gene_to_tx_dict[gene]]))
m.createAnnotation("protein_change", "p.DUMMY1_" + endAA)
m.createAnnotation("chr", gene_to_tx_dict[gene][0].get_contig())
# Annotate each transcript and collapse the relevant transcript annotations for each gene.
tx_muts_uncollapsed = [self.annotate_transcript(tx) for tx in gene_to_tx_dict[gene]]
annotation_vals_collapsed = defaultdict(set)
for tx_mut in tx_muts_uncollapsed:
for annotation_name in tx_mut.keys():
# For every annotation on the dummy transcript (tx_mut), create a dictionary containing a
# set of values.
# Only consider annotations that are not INPUT and the datasource is known.
invalid_annotation_sources = ["INPUT", "OUTPUT", "Unknown"]
if tx_mut.getAnnotation(annotation_name).getDatasource() not in invalid_annotation_sources:
annotation_vals_collapsed[annotation_name].add(tx_mut[annotation_name])
# Create a new annotation that encompasses the transcript data for the gene.
for new_annotation in annotation_vals_collapsed.keys():
# Remove blank values from the set
annotation_val_collapsed_set = annotation_vals_collapsed[new_annotation] - set([""])
str_val = "|".join(sorted(list(annotation_val_collapsed_set)))
m.createAnnotation(new_annotation, str_val, annotationSource="OUTPUT")
muts_dict[gene] = m
self._annotate_genes(muts_dict.values())
return muts_dict
