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run validation on sv get_ht
1 parent 0addb5b commit 5412715

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5 files changed

+33
-6
lines changed

5 files changed

+33
-6
lines changed

v03_pipeline/lib/annotations/sv.py

Lines changed: 1 addition & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -180,6 +180,7 @@ def gnomad_svs(
180180
gnomad_svs_ht: hl.Table,
181181
**_: Any,
182182
) -> hl.Expression:
183+
gnomad_svs_ht = gnomad_svs_ht.drop('locus', 'alleles')
183184
return gnomad_svs_ht.annotate(
184185
ID=gnomad_svs_ht.KEY,
185186
)[ht['info.GNOMAD_V4.1_TRUTH_VID']]

v03_pipeline/lib/misc/validation.py

Lines changed: 0 additions & 3 deletions
Original file line numberDiff line numberDiff line change
@@ -31,9 +31,6 @@ def validate_allele_type(
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**_: Any,
3232
) -> None:
3333
ht = t.rows() if isinstance(t, hl.MatrixTable) else t
34-
if not hasattr(ht, 'alleles'):
35-
return
36-
3734
ht = ht.filter(
3835
dataset_type.invalid_allele_types.contains(
3936
hl.numeric_allele_type(ht.alleles[0], ht.alleles[1]),

v03_pipeline/lib/reference_datasets/gnomad_svs.py

Lines changed: 1 addition & 2 deletions
Original file line numberDiff line numberDiff line change
@@ -14,5 +14,4 @@ def get_ht(path: str, reference_genome: ReferenceGenome) -> hl.Table:
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N_HET=ht.info.N_HET,
1515
N_HOMREF=ht.info.N_HOMREF,
1616
)
17-
ht = ht.key_by('KEY')
18-
return ht.drop('locus', 'alleles')
17+
return ht.key_by('KEY')

v03_pipeline/lib/reference_datasets/gnomad_svs_test.py

Lines changed: 30 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -21,6 +21,12 @@ def test_gnomad_svs(self, mock_vcf_to_ht):
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[
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hl.Struct(
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KEY='gnomAD-SV_v3_BND_chr1_1a45f73a',
24+
locus=hl.Locus(
25+
contig='chr1',
26+
position=10434,
27+
reference_genome=ReferenceGenome.GRCh38,
28+
),
29+
alleles=['N', '<BND>'],
2430
AF=0.11413399875164032,
2531
AC=8474,
2632
AN=74246,
@@ -29,6 +35,12 @@ def test_gnomad_svs(self, mock_vcf_to_ht):
2935
),
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hl.Struct(
3137
KEY='gnomAD-SV_v3_BND_chr1_3fa36917',
38+
locus=hl.Locus(
39+
contig='chr1',
40+
position=10440,
41+
reference_genome=ReferenceGenome.GRCh38,
42+
),
43+
alleles=['N', '<BND>'],
3244
AF=0.004201000090688467,
3345
AC=466,
3446
AN=110936,
@@ -37,6 +49,12 @@ def test_gnomad_svs(self, mock_vcf_to_ht):
3749
),
3850
hl.Struct(
3951
KEY='gnomAD-SV_v3_BND_chr1_7bbf34b5',
52+
locus=hl.Locus(
53+
contig='chr1',
54+
position=10464,
55+
reference_genome=ReferenceGenome.GRCh38,
56+
),
57+
alleles=['N', '<BND>'],
4058
AF=0.03698499873280525,
4159
AC=3119,
4260
AN=84332,
@@ -45,6 +63,12 @@ def test_gnomad_svs(self, mock_vcf_to_ht):
4563
),
4664
hl.Struct(
4765
KEY='gnomAD-SV_v3_BND_chr1_933a2971',
66+
locus=hl.Locus(
67+
contig='chr1',
68+
position=10450,
69+
reference_genome=ReferenceGenome.GRCh38,
70+
),
71+
alleles=['N', '<BND>'],
4872
AF=0.3238990008831024,
4973
AC=21766,
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AN=67200,
@@ -53,6 +77,12 @@ def test_gnomad_svs(self, mock_vcf_to_ht):
5377
),
5478
hl.Struct(
5579
KEY='gnomAD-SV_v3_DUP_chr1_01c2781c',
80+
locus=hl.Locus(
81+
contig='chr1',
82+
position=10000,
83+
reference_genome=ReferenceGenome.GRCh38,
84+
),
85+
alleles=['N', '<DUP>'],
5686
AF=0.0019970000721514225,
5787
AC=139,
5888
AN=69594,

v03_pipeline/lib/reference_datasets/reference_dataset.py

Lines changed: 1 addition & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -151,7 +151,7 @@ def get_ht(
151151
ht = filter_contigs(ht, reference_genome)
152152
for dataset_type in self.dataset_types(reference_genome):
153153
validate_allele_type(ht, dataset_type)
154-
validate_no_duplicate_variants(ht, reference_genome, DatasetType.SNV_INDEL)
154+
validate_no_duplicate_variants(ht, reference_genome, dataset_type)
155155
# NB: we do not filter with "filter" here
156156
# ReferenceDatasets are DatasetType agnostic and that
157157
# filter is only used at annotation time.

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