def test_blat_contigs_deletion_revcomp(self):
ev = GenomeEvidence(Breakpoint('fake', 1714, orient=ORIENT.LEFT),
Breakpoint('fake', 2968, orient=ORIENT.RIGHT),
opposing_strands=False,
bam_cache=BAM_CACHE,
reference_genome=REFERENCE_GENOME,
read_length=40,
stdev_fragment_size=25,
median_fragment_size=100)
seq = 'GGTATATATTTCTCAGATAAAAGATATTTTCCCTTTTATCTTTCCCTAAGCTCACACTACATATATTGCATTTATCTTATATCTGCTTTAAAACCTATTTAT' \
'TATGTCATTTAAATATCTAGAAAAGTTATGACTTCACCAGGTATGAAAAATATAAAAAGAACTCTGTCAAGAAT'
ev.contigs = [Contig(reverse_complement(seq), 0)]
align.select_contig_alignments(
ev,
align.align_sequences({'seq': ev.contigs[0].seq},
BAM_CACHE,
REFERENCE_GENOME,
aligner_reference=REFERENCE_GENOME_FILE_2BIT,
aligner='blat'))
print('alignments:', ev.contigs[0].alignments)
alignment = list(ev.contigs[0].alignments)[0]
print(alignment)
self.assertTrue(alignment.read2 is None)
self.assertEqual(0, alignment.read1.reference_id)
self.assertTrue(alignment.read1.is_reverse)
self.assertEqual(seq, alignment.read1.query_sequence)
self.assertEqual(Interval(0, 175),
align.query_coverage_interval(alignment.read1))
self.assertEqual(1612, alignment.read1.reference_start)
self.assertEqual([(CIGAR.EQ, 102), (CIGAR.D, 1253), (CIGAR.EQ, 74)],
alignment.read1.cigar)
def test_inversion_and_deletion(self):
s = 'CTGAGCATGAAAGCCCTGTAAACACAGAATTTGGATTCTTTCCTGTTTGGTTCCTGGTCGTGAGTGGCAGGTGCCATCATGTTTCATTCTGCCTGAGAGCAGTCTACCTAAATATATAGCTCTGCTCACAGTTTCCCTGCAATGCATAATTAAAATAGCACTATGCAGTTGCTTACACTTCAGATAATGGCTTCCTACATATTGTTGGTTATGAAATTTCAGGGTTTTCATTTCTGTATGTTAAT'
evidence = MockObject(
interchromosomal=False,
opposing_strands=True,
break1=MockObject(orient=ORIENT.RIGHT, chr='3'),
break2=MockObject(orient=ORIENT.RIGHT, chr='3'),
contigs=[MockObject(seq=s, alignments=set())],
standardize_read=lambda x: x,
contig_aln_max_event_size=DEFAULTS.contig_aln_max_event_size,
contig_aln_merge_inner_anchor=5,
contig_aln_merge_outer_anchor=DEFAULTS.contig_aln_merge_outer_anchor,
contig_aln_min_query_consumption=0.9,
contig_aln_min_extend_overlap=DEFAULTS.contig_aln_min_extend_overlap,
contig_aln_min_anchor_size=DEFAULTS.contig_aln_min_anchor_size,
contig_aln_min_score=DEFAULTS.contig_aln_min_score,
outer_window1=Interval(1000, 1200),
outer_window2=Interval(2000, 2200),
reference_genome=None,
bam_cache=mock.Mock(stranded=False)
)
read1 = SamRead(
reference_id=3, reference_start=1114, cigar=[(CIGAR.S, 125), (CIGAR.EQ, 120)], query_sequence=s,
is_reverse=False, reference_name='3', alignment_rank=0
)
read2 = SamRead(
reference_id=3, reference_start=2187, cigar=[(CIGAR.S, 117), (CIGAR.EQ, 8), (CIGAR.D, 1), (CIGAR.EQ, 120)],
query_sequence=reverse_complement(s), is_reverse=True, reference_name='3', alignment_rank=1
)
raw_alignments = {s: [read1, read2]}
align.select_contig_alignments(evidence, raw_alignments)
alignments = list(evidence.contigs[0].alignments)
self.assertEqual(2, len(alignments))
def test_blat_contigs(self):
ev = GenomeEvidence(
Breakpoint('reference3', 1114, orient=ORIENT.RIGHT),
Breakpoint('reference3', 2187, orient=ORIENT.RIGHT),
opposing_strands=True,
bam_cache=BAM_CACHE,
reference_genome=REFERENCE_GENOME,
read_length=40,
stdev_fragment_size=25,
median_fragment_size=100,
stdev_count_abnormal=2,
min_splits_reads_resolution=1,
min_flanking_pairs_resolution=1
)
ev.contigs = [
Contig(
'CTGAGCATGAAAGCCCTGTAAACACAGAATTTGGATTCTTTCCTGTTTGGTTCCTGGTCGTGAGTGGCAGGTGCCATCATGTTTCATTCTGCCTGAGAGCAG'
'TCTACCTAAATATATAGCTCTGCTCACAGTTTCCCTGCAATGCATAATTAAAATAGCACTATGCAGTTGCTTACACTTCAGATAATGGCTTCCTACATATTG'
'TTGGTTATGAAATTTCAGGGTTTTCATTTCTGTATGTTAAT', 0)
]
print(ev.contigs[0].seq)
seq = align.align_sequences({'seq': ev.contigs[0].seq}, BAM_CACHE, REFERENCE_GENOME, aligner_reference=get_data('mock_reference_genome.2bit'), aligner='blat')
print(seq)
align.select_contig_alignments(ev, seq)
print(ev.contigs[0].alignments)
alignment = list(ev.contigs[0].alignments)[0]
self.assertEqual(1, alignment.read1.reference_id)
self.assertEqual(1, alignment.read2.reference_id)
self.assertEqual(Interval(125, 244), align.query_coverage_interval(alignment.read1))
self.assertEqual(Interval(117, 244), align.query_coverage_interval(alignment.read2))
self.assertEqual(1114, alignment.read1.reference_start)
self.assertEqual(2187, alignment.read2.reference_start)
self.assertEqual([(CIGAR.S, 125), (CIGAR.EQ, 120)], alignment.read1.cigar)
self.assertEqual([(CIGAR.S, 117), (CIGAR.EQ, 128)], alignment.read2.cigar)
def test_blat_contigs_deletion(self):
ev = GenomeEvidence(
Breakpoint('fake', 1714, orient=ORIENT.LEFT),
Breakpoint('fake', 2968, orient=ORIENT.RIGHT),
opposing_strands=False,
bam_cache=BAM_CACHE,
reference_genome=REFERENCE_GENOME,
read_length=40,
stdev_fragment_size=25,
median_fragment_size=100
)
ev.contigs = [
Contig(
'GGTATATATTTCTCAGATAAAAGATATTTTCCCTTTTATCTTTCCCTAAGCTCACACTACATATATTGCATTTATCTTATATCTGCTTTAAAACCTATTTAT'
'TATGTCATTTAAATATCTAGAAAAGTTATGACTTCACCAGGTATGAAAAATATAAAAAGAACTCTGTCAAGAAT', 0)
]
seq = align.align_sequences({'seq': ev.contigs[0].seq}, BAM_CACHE, REFERENCE_GENOME, aligner_reference=get_data('mock_reference_genome.2bit'), aligner='blat')
for query, reads in seq.items():
print('>>>', query)
for read in reads:
print(repr(read))
align.select_contig_alignments(ev, seq)
alignments = list(ev.contigs[0].alignments)
print('alignments:')
for aln in alignments:
print(aln, repr(aln.read1), repr(aln.read2))
self.assertEqual(1, len(alignments))
alignment = alignments[0]
self.assertTrue(alignment.read2 is None)
self.assertEqual(0, alignment.read1.reference_id)
self.assertTrue(not alignment.read1.is_reverse)
self.assertEqual(Interval(0, 175), align.query_coverage_interval(alignment.read1))
self.assertEqual(1612, alignment.read1.reference_start)
self.assertEqual([(CIGAR.EQ, 102), (CIGAR.D, 1253), (CIGAR.EQ, 74)], alignment.read1.cigar)
def test_bwa_contigs(self):
ev = GenomeEvidence(
Breakpoint('reference3', 1114, orient=ORIENT.RIGHT),
Breakpoint('reference3', 2187, orient=ORIENT.RIGHT),
opposing_strands=True,
bam_cache=BAM_CACHE,
reference_genome=REFERENCE_GENOME,
read_length=40,
stdev_fragment_size=25,
median_fragment_size=100,
config={
'validate.stdev_count_abnormal': 2,
'validate.min_splits_reads_resolution': 1,
'validate.min_flanking_pairs_resolution': 1,
},
)
ev.contigs = [
Contig(
'CTGAGCATGAAAGCCCTGTAAACACAGAATTTGGATTCTTTCCTGTTTGGTTCCTGGTCGTGAGTGGCAGGTGCCATCATGTTTCATTCTGCCTGAGAGCAG'
'TCTACCTAAATATATAGCTCTGCTCACAGTTTCCCTGCAATGCATAATTAAAATAGCACTATGCAGTTGCTTACACTTCAGATAATGGCTTCCTACATATTG'
'TTGGTTATGAAATTTCAGGGTTTTCATTTCTGTATGTTAAT',
0,
)
]
print(ev.contigs[0].seq)
seq = align.align_sequences(
{'seq': ev.contigs[0].seq},
BAM_CACHE,
REFERENCE_GENOME,
aligner_reference=get_data('mock_reference_genome.fa'),
aligner='bwa mem',
aligner_output_file='mem.out',
aligner_fa_input_file='mem.in.fa',
)
align.select_contig_alignments(ev, seq)
print(ev.contigs[0].alignments)
alignment = list(ev.contigs[0].alignments)[0]
assert alignment.read2.query_sequence == reverse_complement(alignment.read1.query_sequence)
assert alignment.read1.reference_name == 'reference3'
assert alignment.read2.reference_name == 'reference3'
assert alignment.read1.reference_id == 1
assert alignment.read2.reference_id == 1
assert align.query_coverage_interval(alignment.read1) == Interval(125, 244)
assert align.query_coverage_interval(alignment.read2) == Interval(117, 244)
assert alignment.read1.reference_start == 1114
assert alignment.read2.reference_start == 2187
assert alignment.read1.cigar == [(CIGAR.S, 125), (CIGAR.EQ, 120)]
assert alignment.read2.cigar == [(CIGAR.S, 117), (CIGAR.EQ, 128)]
def test_blat_contigs_deletion_revcomp(self):
ev = GenomeEvidence(
Breakpoint('fake', 1714, orient=ORIENT.LEFT),
Breakpoint('fake', 2968, orient=ORIENT.RIGHT),
opposing_strands=False,
bam_cache=BAM_CACHE,
reference_genome=REFERENCE_GENOME,
read_length=40,
stdev_fragment_size=25,
median_fragment_size=100,
)
seq = (
'GGTATATATTTCTCAGATAAAAGATATTTTCCCTTTTATCTTTCCCTAAGCTCACACTACATATATTGCATTTATCTTATATCTGCTTTAAAACCTATTTAT'
'TATGTCATTTAAATATCTAGAAAAGTTATGACTTCACCAGGTATGAAAAATATAAAAAGAACTCTGTCAAGAAT'
)
ev.contigs = [Contig(reverse_complement(seq), 0)]
align.select_contig_alignments(
ev,
align.align_sequences(
{'seq': ev.contigs[0].seq},
BAM_CACHE,
REFERENCE_GENOME,
aligner_reference=get_data('mock_reference_genome.2bit'),
aligner='blat',
),
)
print('alignments:', ev.contigs[0].alignments)
alignment = list(ev.contigs[0].alignments)[0]
print(alignment)
assert alignment.read2 is None
assert alignment.read1.reference_id == 0
assert alignment.read1.is_reverse
assert alignment.read1.query_sequence == seq
assert align.query_coverage_interval(alignment.read1) == Interval(0, 175)
assert alignment.read1.reference_start == 1612
assert alignment.read1.cigar == [(CIGAR.EQ, 102), (CIGAR.D, 1253), (CIGAR.EQ, 74)]