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Mark gaps instead of discarding #185

Merged
merged 5 commits into from
Sep 13, 2024
Merged

Mark gaps instead of discarding #185

merged 5 commits into from
Sep 13, 2024

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standage
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@standage standage commented Sep 13, 2024

In this PR, the empirical haplotype calling algorithm was updated so that indel gaps are marked as - instead of being left empty. Closes #183.


Comment on lines -535 to +540
if record.is_del or record.is_refskip or skip_read(record.alignment):
if skip_read(record.alignment):
continue
aligned_base = record.alignment.query_sequence[record.query_position]
if record.is_del or record.is_refskip:
aligned_base = "-"
else:
aligned_base = record.alignment.query_sequence[record.query_position]
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This change is the main event.

Comment on lines +186 to +194
def test_type_marker_has_indel_spanning_snp():
bam = data_file("bam/indel_snp.bam")
tsv = data_file("def/indel_snp.tsv")
result = mhapi.type(bam, tsv)
assert "mh09WL-026" in result.data["markers"]
for allele in result.data["markers"]["mh09WL-026"]["typing_result"]:
snp_alleles = allele.split(",")
assert len(snp_alleles) == 6
assert snp_alleles[-2] == "-"
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New test

@standage standage merged commit 84444a3 into main Sep 13, 2024
4 checks passed
@standage standage deleted the gaps branch September 13, 2024 17:04
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Mark gaps instead of skipping
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