def testFullSnpVcf(self):
""" Perform test of a SNP call stats (maflite) all the way through TCGA VCF creation. Only checks that a file was created.
"""
outputFilename = "out/TCGAVCFTest.snp.vcf"
callStatsIn = MafliteInputMutationCreator(
"testdata/Test.call_stats.trim.txt")
vcfOR = TcgaVcfOutputRenderer(outputFilename)
datasources = self._createDatasourcesForTesting()
annotator = Annotator()
annotator.setInputCreator(callStatsIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
for ds in datasources:
annotator.addDatasource(ds)
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
maflite_ic = MafliteInputMutationCreator(
"testdata/maflite/Patient0.indel.maf.txt")
muts = maflite_ic.createMutations()
vcf_reader = vcf.Reader(open(outputFilename, 'r'))
for i, m in enumerate(muts):
rec = vcf_reader.next()
qual = rec.QUAL
# All records should have QUAL with a value (i.e. NOT ".")
self.assertIsNotNone(qual)
def testManualAnnotations(self):
""" Test that the manual annotation facility in the Annotator is working properly. """
annotator = Annotator()
overrides = {'source': 'Capture', 'status': 'Somatic', 'phase': 'Phase_I', 'sequencer': 'Illumina GAIIx'}
annotator.setManualAnnotations(overrides)
inputCreator = MafliteInputMutationCreator('testdata/maflite/Patient0.snp.maf.txt')
outputRenderer = SimpleOutputRenderer("out/testManualAnnotationsFile.tsv")
annotator.setInputCreator(inputCreator)
annotator.setOutputRenderer(outputRenderer)
testOutputFilename = annotator.annotate()
keysOfInterest = overrides.keys()
statinfo = os.stat(testOutputFilename)
self.assertTrue(statinfo.st_size > 0, "Generated TSV file (" + testOutputFilename + ") is empty.")
tsvReader = GenericTsvReader(testOutputFilename)
ctr = 1
for lineDict in tsvReader:
for k in keysOfInterest:
self.assertTrue(lineDict[k] != "__UNKNOWN__",
"__UNKNOWN__ value seen on line " + str(ctr) + ", when it should be populated: " + k)
self.assertTrue(lineDict[k] != "",
"Blank value seen on line " + str(ctr) + ", when it should be populated: " + k)
self.assertTrue(lineDict[k] == overrides[k],
"Value for " + k + " on line " + str(ctr) + " did not match override: " + str(
lineDict[k]) + " <> " + str(overrides[k]))
ctr += 1
def testFullIndelVcf(self):
""" Perform test of a Indel maflite all the way through TCGA VCF creation
"""
outputFilename = "out/TCGAVCFTest.indel.vcf"
callStatsIn = MafliteInputMutationCreator("testdata/maflite/Patient0.indel.maf.txt")
vcfOR = TcgaVcfOutputRenderer(outputFilename)
datasources = self._createDatasourcesForTesting()
annotator = Annotator()
annotator.setInputCreator(callStatsIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
for ds in datasources:
annotator.addDatasource(ds)
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
# Check that the deletions have position decremented by one from what is present in the maflite
# Checking that 1 36643701 in the maflite (a deletion) becomes 1 36643700 in the vcf, but that the others are
# the same.
maflite_ic = MafliteInputMutationCreator("testdata/maflite/Patient0.indel.maf.txt")
muts = maflite_ic.createMutations()
vcf_reader = vcf.Reader(open(outputFilename, 'r'))
vcf_pos = [int(rec.POS) for rec in vcf_reader]
for m in muts:
# If the variant is a deletion, then the vcf position should be the same as maflite minus one. Otherwise, the same.
is_variant_deletion = (m.alt_allele == "") or (m.alt_allele == "-") or (m.alt_allele == ".")
if is_variant_deletion:
self.assertTrue((int(m.start) - 1) in vcf_pos, "Deletion was not correct for " + m.chr + ":" + m.start)
else:
self.assertTrue(int(m.start) in vcf_pos, "Insertion was not correct for " + m.chr + ":" + m.start)
def testManualAnnotations(self):
""" Test that the manual annotation facility in the Annotator is working properly. """
annotator = Annotator()
overrides = {'source': 'Capture', 'status': 'Somatic', 'phase': 'Phase_I', 'sequencer': 'Illumina GAIIx'}
annotator.setManualAnnotations(overrides)
inputCreator = MafliteInputMutationCreator('testdata/maflite/Patient0.snp.maf.txt')
outputRenderer = SimpleOutputRenderer("out/testManualAnnotationsFile.tsv")
annotator.setInputCreator(inputCreator)
annotator.setOutputRenderer(outputRenderer)
testOutputFilename = annotator.annotate()
keysOfInterest = overrides.keys()
statinfo = os.stat(testOutputFilename)
self.assertTrue(statinfo.st_size > 0, "Generated TSV file (" + testOutputFilename + ") is empty.")
tsvReader = GenericTsvReader(testOutputFilename)
ctr = 1
for lineDict in tsvReader:
for k in keysOfInterest:
self.assertTrue(lineDict[k] != "__UNKNOWN__",
"__UNKNOWN__ value seen on line " + str(ctr) + ", when it should be populated: " + k)
self.assertTrue(lineDict[k] != "",
"Blank value seen on line " + str(ctr) + ", when it should be populated: " + k)
self.assertTrue(lineDict[k] == overrides[k],
"Value for " + k + " on line " + str(ctr) + " did not match override: " + str(
lineDict[k]) + " <> " + str(overrides[k]))
ctr += 1
def testFullIndelVcf(self):
""" Perform test of a Indel maflite all the way through TCGA VCF creation
"""
outputFilename = "out/TCGAVCFTest.indel.vcf"
callStatsIn = MafliteInputMutationCreator("testdata/maflite/Patient0.indel.maf.txt")
vcfOR = TcgaVcfOutputRenderer(outputFilename)
datasources = self._createDatasourcesForTesting()
annotator = Annotator()
annotator.setInputCreator(callStatsIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
for ds in datasources:
annotator.addDatasource(ds)
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
# Check that the deletions have position decremented by one from what is present in the maflite
# Checking that 1 36643701 in the maflite (a deletion) becomes 1 36643700 in the vcf, but that the others are
# the same.
maflite_ic = MafliteInputMutationCreator("testdata/maflite/Patient0.indel.maf.txt")
muts = maflite_ic.createMutations()
vcf_reader = vcf.Reader(open(outputFilename, 'r'))
vcf_pos = [int(rec.POS) for rec in vcf_reader]
for m in muts:
# If the variant is a deletion, then the vcf position should be the same as maflite minus one. Otherwise, the same.
is_variant_deletion = (m.alt_allele == "") or (m.alt_allele == "-") or (m.alt_allele == ".")
if is_variant_deletion:
self.assertTrue((int(m.start) - 1) in vcf_pos, "Deletion was not correct for " + m.chr + ":" + m.start)
else:
self.assertTrue(int(m.start) in vcf_pos, "Insertion was not correct for " + m.chr + ":" + m.start)
def testMafInput(self):
"""Make sure that we can render a TCGA VCF from a TCGA MAF -- using no datasources"""
inputFile = "testdata/maf/Patient1.snp.maf.annotated"
outputFilename = "out/maf2tcgavcf.vcf"
mafIn = MafliteInputMutationCreator(inputFile)
vcfOR = TcgaVcfOutputRenderer(outputFilename)
annotator = Annotator()
annotator.setInputCreator(mafIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
statinfo = os.stat(outputFilename)
self.assertTrue(statinfo.st_size > 0, "Generated VCF file (" + outputFilename + ") is empty.")
def testMafInput(self):
"""Make sure that we can render a TCGA VCF from a TCGA MAF -- using no datasources"""
inputFile = "testdata/maf/Patient1.snp.maf.annotated"
outputFilename = "out/maf2tcgavcf.vcf"
mafIn = MafliteInputMutationCreator(inputFile)
vcfOR = TcgaVcfOutputRenderer(outputFilename)
annotator = Annotator()
annotator.setInputCreator(mafIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
statinfo = os.stat(outputFilename)
self.assertTrue(statinfo.st_size > 0, "Generated VCF file (" + outputFilename + ") is empty.")
def testFullSnpVcf(self):
""" Perform test of a SNP call stats (maflite) all the way through TCGA VCF creation. Only checks that a file was created.
"""
outputFilename = "out/TCGAVCFTest.snp.vcf"
callStatsIn = MafliteInputMutationCreator("testdata/Test.call_stats.trim.txt")
vcfOR = TcgaVcfOutputRenderer(outputFilename)
datasources = self._createDatasourcesForTesting()
annotator = Annotator()
annotator.setInputCreator(callStatsIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
for ds in datasources:
annotator.addDatasource(ds)
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
def testFullSnpVcf(self):
""" Perform test of a SNP call stats (maflite) all the way through TCGA VCF creation. Only checks that a file was created.
"""
outputFilename = "out/TCGAVCFTest.snp.vcf"
callStatsIn = MafliteInputMutationCreator("testdata/Test.call_stats.trim.txt")
vcfOR = TcgaVcfOutputRenderer(outputFilename)
datasources = self._createDatasourcesForTesting()
annotator = Annotator()
annotator.setInputCreator(callStatsIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
for ds in datasources:
annotator.addDatasource(ds)
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
def testEmptyInput(self):
"""Make sure that we can generate an empty vcf from an empty maflite"""
inputFile = "testdata/maflite/empty.maflite"
outputFilename = "out/empty.vcf"
callStatsIn = MafliteInputMutationCreator(inputFile)
vcfOR = TcgaVcfOutputRenderer(outputFilename)
datasources = self._createDatasourcesForTesting()
annotator = Annotator()
annotator.setInputCreator(callStatsIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
for ds in datasources:
annotator.addDatasource(ds)
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
statinfo = os.stat(outputFilename)
self.assertTrue(statinfo.st_size > 0, "Generated VCF file (" + outputFilename + ") is empty.")
def testAnotherFullSNP(self):
"""Test SNP call stats . Just make sure no exception is thrown."""
inputFile = "testdata/maflite/Another.call_stats.txt"
outputFilename = "out/Another.call_stats.out.vcf"
callStatsIn = MafliteInputMutationCreator(inputFile)
vcfOR = TcgaVcfOutputRenderer(outputFilename)
datasources = self._createDatasourcesForTesting()
annotator = Annotator()
annotator.setInputCreator(callStatsIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
for ds in datasources:
annotator.addDatasource(ds)
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
statinfo = os.stat(outputFilename)
self.assertTrue(statinfo.st_size > 0, "Generated VCF file (" + outputFilename + ") is empty.")
def testEmptyInput(self):
"""Make sure that we can generate an empty vcf from an empty maflite"""
inputFile = "testdata/maflite/empty.maflite"
outputFilename = "out/empty.vcf"
callStatsIn = MafliteInputMutationCreator(inputFile)
vcfOR = TcgaVcfOutputRenderer(outputFilename)
datasources = self._createDatasourcesForTesting()
annotator = Annotator()
annotator.setInputCreator(callStatsIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
for ds in datasources:
annotator.addDatasource(ds)
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
statinfo = os.stat(outputFilename)
self.assertTrue(statinfo.st_size > 0, "Generated VCF file (" + outputFilename + ") is empty.")
def testAnotherFullSNP(self):
"""Test SNP call stats . Just make sure no exception is thrown."""
inputFile = "testdata/maflite/Another.call_stats.txt"
outputFilename = "out/Another.call_stats.out.vcf"
callStatsIn = MafliteInputMutationCreator(inputFile)
vcfOR = TcgaVcfOutputRenderer(outputFilename)
datasources = self._createDatasourcesForTesting()
annotator = Annotator()
annotator.setInputCreator(callStatsIn)
annotator.setOutputRenderer(vcfOR)
annotator.setManualAnnotations(self._createManualAnnotations())
for ds in datasources:
annotator.addDatasource(ds)
annotator.annotate()
self.assertTrue(os.path.exists(outputFilename))
statinfo = os.stat(outputFilename)
self.assertTrue(statinfo.st_size > 0, "Generated VCF file (" + outputFilename + ") is empty.")
def testTCGAMAFRendering(self):
"""
Tests the ability to render a germline VCF file as a TCGA MAF file.
"""
inputFilename = os.path.join(*["testdata", "vcf", "example.vcf"])
outputFilename = os.path.join("out", "example.vcf.maf.annotated")
creator = VcfInputMutationCreator(inputFilename)
creator.createMutations()
renderer = TcgaMafOutputRenderer(outputFilename)
annotator = Annotator()
annotator.setInputCreator(creator)
annotator.setOutputRenderer(renderer)
annotator.setManualAnnotations(self._createTCGAMAFOverridesForVCF())
datasources = self._createDatasourceCorpus()
for ds in datasources:
annotator.addDatasource(ds)
filename = annotator.annotate()
self._validateTcgaMafContents(filename)
