varcode 2.2.1__tar.gz → 2.3.1__tar.gz
This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
- {varcode-2.2.1/varcode.egg-info → varcode-2.3.1}/PKG-INFO +17 -2
- {varcode-2.2.1 → varcode-2.3.1}/README.md +16 -1
- varcode-2.3.1/tests/test_genotype.py +266 -0
- varcode-2.3.1/tests/test_genotype_from_vcf.py +248 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/__init__.py +7 -1
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/effect_collection.py +6 -3
- {varcode-2.2.1 → varcode-2.3.1}/varcode/errors.py +5 -0
- varcode-2.3.1/varcode/genotype.py +200 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/variant_collection.py +138 -0
- varcode-2.3.1/varcode/version.py +1 -0
- {varcode-2.2.1 → varcode-2.3.1/varcode.egg-info}/PKG-INFO +17 -2
- {varcode-2.2.1 → varcode-2.3.1}/varcode.egg-info/SOURCES.txt +3 -0
- varcode-2.2.1/varcode/version.py +0 -1
- {varcode-2.2.1 → varcode-2.3.1}/LICENSE +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/MANIFEST.in +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/pyproject.toml +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/requirements.txt +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/setup.cfg +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/__init__.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/benchmark_vcf_load.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/common.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/data.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_cli_effects.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_cli_genes.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_collection_filtering.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_collection_variants_attr_consistency.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_common.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_cosmic_mutations.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_csv_roundtrip.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_dbnsfp_validation.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_effect_annotation_errors.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_effect_classes.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_effect_collection.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_effect_collection_serialization.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_effect_collection_sort_order.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_effects_from_mutagenix_variants.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_exonic_splice_site.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_frameshift_helpers.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_maf.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_mm10_klf6_frameshift.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_mouse.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_mutate.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_no_duplicate_variants.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_premature_stop_short_description.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_problematic_variants.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_reference.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_reference_mismatch_error.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_silent_aa_pos.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_silent_hgvs_description.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_splice_site_effects.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_stop_codon_classification_bugs.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_string_helpers.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_symbolic_alleles.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_timings.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_variant.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_variant_collection.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_vcf.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/tests/test_vcf_output.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/cli/__init__.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/cli/effects_script.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/cli/genes_script.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/cli/logging.conf +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/cli/variant_args.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/cli/version_info.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/common.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/csv_helpers.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/__init__.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/common.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/effect_classes.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/effect_helpers.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/effect_ordering.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/effect_prediction.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/effect_prediction_coding.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/effect_prediction_coding_frameshift.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/effect_prediction_coding_in_frame.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/mutate.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/transcript_helpers.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/effects/translate.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/maf.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/nucleotides.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/reference.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/string_helpers.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/ucsc_reference_names.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/util.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/variant.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/vcf.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode/vcf_output.py +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode.egg-info/dependency_links.txt +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode.egg-info/entry_points.txt +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode.egg-info/requires.txt +0 -0
- {varcode-2.2.1 → varcode-2.3.1}/varcode.egg-info/top_level.txt +0 -0
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Metadata-Version: 2.4
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Name: varcode
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Version: 2.
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Version: 2.3.1
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Summary: Variant annotation in Python
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Author-email: Alex Rubinsteyn <alex.rubinsteyn@unc.edu>
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Project-URL: Homepage, https://github.com/openvax/varcode
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### 'TP53'
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```
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If you are looking for a quick start guide, you can check out [this iPython book](./examples/varcode-quick_start.ipynb) that demonstrates simple use cases of Varcode
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If you are looking for a quick start guide, you can check out [this iPython book](./examples/varcode-quick_start.ipynb) that demonstrates simple use cases of Varcode.
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## Further reading
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Feature guides live in [`docs/`](./docs/):
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- [**Genotypes and sample-aware queries**](./docs/genotype.md) — per-sample
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zygosity on multi-sample VCFs (`Genotype`, `Zygosity`, `VariantCollection.for_sample`,
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`.heterozygous_in`, `.homozygous_alt_in`). New in 2.3.
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- [**CSV round-trip and metadata headers**](./docs/csv.md) — `to_csv` /
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`from_csv` on both collection types, with `#`-prefixed provenance
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headers. New in 2.1, refined in 2.2.
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- [**Error handling**](./docs/errors.md) — `ReferenceMismatchError`,
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`SampleNotFoundError`, and the `raise_on_error=False` escape hatch.
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See [`CHANGELOG.md`](./CHANGELOG.md) for the release history.
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## Effect Types
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### 'TP53'
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```
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If you are looking for a quick start guide, you can check out [this iPython book](./examples/varcode-quick_start.ipynb) that demonstrates simple use cases of Varcode
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If you are looking for a quick start guide, you can check out [this iPython book](./examples/varcode-quick_start.ipynb) that demonstrates simple use cases of Varcode.
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## Further reading
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Feature guides live in [`docs/`](./docs/):
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- [**Genotypes and sample-aware queries**](./docs/genotype.md) — per-sample
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zygosity on multi-sample VCFs (`Genotype`, `Zygosity`, `VariantCollection.for_sample`,
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`.heterozygous_in`, `.homozygous_alt_in`). New in 2.3.
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- [**CSV round-trip and metadata headers**](./docs/csv.md) — `to_csv` /
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`from_csv` on both collection types, with `#`-prefixed provenance
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headers. New in 2.1, refined in 2.2.
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- [**Error handling**](./docs/errors.md) — `ReferenceMismatchError`,
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`SampleNotFoundError`, and the `raise_on_error=False` escape hatch.
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See [`CHANGELOG.md`](./CHANGELOG.md) for the release history.
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## Effect Types
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# Licensed under the Apache License, Version 2.0 (the "License");
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# you may not use this file except in compliance with the License.
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# You may obtain a copy of the License at
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#
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# http://www.apache.org/licenses/LICENSE-2.0
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#
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# Unless required by applicable law or agreed to in writing, software
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# distributed under the License is distributed on an "AS IS" BASIS,
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# WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied.
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# See the License for the specific language governing permissions and
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# limitations under the License.
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"""
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Unit tests for the Genotype dataclass and GT parsing (openvax/varcode#267).
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Tests that touch a real VCF end-to-end live in
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``tests/test_genotype_from_vcf.py``.
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"""
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import pytest
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from varcode import Genotype, Zygosity
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from varcode.genotype import parse_gt_string
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# ------------------------------------------------------------------
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# parse_gt_string: one low-level function, many cases
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# ------------------------------------------------------------------
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def test_parse_gt_diploid_unphased():
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assert parse_gt_string("0/1") == ((0, 1), False)
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assert parse_gt_string("1/0") == ((1, 0), False)
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assert parse_gt_string("1/1") == ((1, 1), False)
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assert parse_gt_string("0/0") == ((0, 0), False)
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def test_parse_gt_diploid_phased():
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assert parse_gt_string("0|1") == ((0, 1), True)
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assert parse_gt_string("1|0") == ((1, 0), True)
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def test_parse_gt_multiallelic():
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# Multi-allelic: 1/2 means one copy of alt #1, one copy of alt #2.
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assert parse_gt_string("1/2") == ((1, 2), False)
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assert parse_gt_string("2|1") == ((2, 1), True)
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def test_parse_gt_haploid():
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# Chromosomes X/Y in males, mitochondrial, etc. — single allele.
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assert parse_gt_string("1") == ((1,), False)
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assert parse_gt_string("0") == ((0,), False)
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def test_parse_gt_missing():
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assert parse_gt_string("./.") == ((None, None), False)
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assert parse_gt_string(".") == ((None,), False)
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assert parse_gt_string("") == ((None,), False)
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assert parse_gt_string(None) == ((None,), False)
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def test_parse_gt_partial_missing():
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# Half-called genotypes — one haplotype missing.
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assert parse_gt_string("./1") == ((None, 1), False)
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assert parse_gt_string("0/.") == ((0, None), False)
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assert parse_gt_string(".|1") == ((None, 1), True)
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def test_parse_gt_polyploid():
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# Triploid (e.g. trisomy) or higher — tuple simply grows.
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alleles, phased = parse_gt_string("0/1/1")
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assert alleles == (0, 1, 1)
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assert phased is False
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# ------------------------------------------------------------------
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# Genotype construction from pyvcf-style sample info dicts
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# ------------------------------------------------------------------
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def test_genotype_from_sample_info_full():
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gt = Genotype.from_sample_info({
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"GT": "0/1",
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"AD": [10, 5],
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"DP": 15,
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"GQ": 99,
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})
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assert gt.raw_gt == "0/1"
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assert gt.alleles == (0, 1)
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assert gt.phased is False
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assert gt.allele_depths == (10, 5)
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assert gt.total_depth == 15
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assert gt.genotype_quality == 99
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assert gt.phase_set is None
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def test_genotype_from_sample_info_phased_with_ps():
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gt = Genotype.from_sample_info({
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"GT": "0|1",
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"PS": 100,
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"AD": [8, 7],
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"DP": 15,
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"GQ": 99,
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})
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assert gt.phased is True
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assert gt.phase_set == 100
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def test_genotype_from_sample_info_nocall_handles_none_values():
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# Pyvcf returns None for all fields when the call is ./.
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gt = Genotype.from_sample_info({
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"GT": "./.",
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"AD": None,
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"DP": None,
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"GQ": None,
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})
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assert gt.alleles == (None, None)
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assert gt.allele_depths is None
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assert gt.is_missing
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assert not gt.is_called
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def test_genotype_from_sample_info_none_input():
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# Entirely missing sample_info dict (e.g. variant not constructed
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# from a VCF).
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gt = Genotype.from_sample_info(None)
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assert gt.is_missing
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assert gt.alleles == (None, None)
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# ------------------------------------------------------------------
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|
132
|
+
# General predicates (alt-agnostic)
|
|
133
|
+
# ------------------------------------------------------------------
|
|
134
|
+
|
|
135
|
+
|
|
136
|
+
def test_is_called_and_is_missing():
|
|
137
|
+
assert Genotype.from_sample_info({"GT": "0/1"}).is_called
|
|
138
|
+
assert not Genotype.from_sample_info({"GT": "./."}).is_called
|
|
139
|
+
assert Genotype.from_sample_info({"GT": "./."}).is_missing
|
|
140
|
+
# Partial-missing is still "called" because one allele is known.
|
|
141
|
+
assert Genotype.from_sample_info({"GT": "./1"}).is_called
|
|
142
|
+
|
|
143
|
+
|
|
144
|
+
def test_ploidy():
|
|
145
|
+
assert Genotype.from_sample_info({"GT": "0/1"}).ploidy == 2
|
|
146
|
+
assert Genotype.from_sample_info({"GT": "1"}).ploidy == 1
|
|
147
|
+
assert Genotype.from_sample_info({"GT": "0/1/1"}).ploidy == 3
|
|
148
|
+
|
|
149
|
+
|
|
150
|
+
def test_is_haploid():
|
|
151
|
+
assert Genotype.from_sample_info({"GT": "1"}).is_haploid
|
|
152
|
+
assert not Genotype.from_sample_info({"GT": "0/1"}).is_haploid
|
|
153
|
+
|
|
154
|
+
|
|
155
|
+
# ------------------------------------------------------------------
|
|
156
|
+
# Alt-relative zygosity (the business end of the API)
|
|
157
|
+
# ------------------------------------------------------------------
|
|
158
|
+
|
|
159
|
+
|
|
160
|
+
def test_zygosity_heterozygous_simple():
|
|
161
|
+
gt = Genotype.from_sample_info({"GT": "0/1"})
|
|
162
|
+
assert gt.zygosity_for_alt(1) is Zygosity.HETEROZYGOUS
|
|
163
|
+
assert gt.carries_alt(1)
|
|
164
|
+
assert gt.copies_of_alt(1) == 1
|
|
165
|
+
|
|
166
|
+
|
|
167
|
+
def test_zygosity_homozygous_alt_simple():
|
|
168
|
+
gt = Genotype.from_sample_info({"GT": "1/1"})
|
|
169
|
+
assert gt.zygosity_for_alt(1) is Zygosity.HOMOZYGOUS
|
|
170
|
+
assert gt.carries_alt(1)
|
|
171
|
+
assert gt.copies_of_alt(1) == 2
|
|
172
|
+
|
|
173
|
+
|
|
174
|
+
def test_zygosity_homozygous_ref_is_absent_for_any_alt():
|
|
175
|
+
gt = Genotype.from_sample_info({"GT": "0/0"})
|
|
176
|
+
# Relative to alt 1: sample doesn't have this alt.
|
|
177
|
+
assert gt.zygosity_for_alt(1) is Zygosity.ABSENT
|
|
178
|
+
assert not gt.carries_alt(1)
|
|
179
|
+
assert gt.copies_of_alt(1) == 0
|
|
180
|
+
|
|
181
|
+
|
|
182
|
+
def test_zygosity_missing():
|
|
183
|
+
gt = Genotype.from_sample_info({"GT": "./."})
|
|
184
|
+
assert gt.zygosity_for_alt(1) is Zygosity.MISSING
|
|
185
|
+
assert not gt.carries_alt(1)
|
|
186
|
+
assert gt.copies_of_alt(1) == 0
|
|
187
|
+
|
|
188
|
+
|
|
189
|
+
def test_zygosity_multiallelic_querying_different_alts():
|
|
190
|
+
# GT = 1/2 means one copy of alt #1, one copy of alt #2.
|
|
191
|
+
# Querying alt 1: het (one copy of this alt, one of a different alt).
|
|
192
|
+
# Querying alt 2: also het.
|
|
193
|
+
# Querying alt 3 (not carried): absent.
|
|
194
|
+
gt = Genotype.from_sample_info({"GT": "1/2"})
|
|
195
|
+
assert gt.zygosity_for_alt(1) is Zygosity.HETEROZYGOUS
|
|
196
|
+
assert gt.zygosity_for_alt(2) is Zygosity.HETEROZYGOUS
|
|
197
|
+
assert gt.zygosity_for_alt(3) is Zygosity.ABSENT
|
|
198
|
+
|
|
199
|
+
|
|
200
|
+
def test_zygosity_multiallelic_homozygous_for_second_alt():
|
|
201
|
+
# GT = 2/2 means both copies are alt #2.
|
|
202
|
+
# Alt 2: hom. Alt 1: absent (sample doesn't have alt 1).
|
|
203
|
+
gt = Genotype.from_sample_info({"GT": "2/2"})
|
|
204
|
+
assert gt.zygosity_for_alt(2) is Zygosity.HOMOZYGOUS
|
|
205
|
+
assert gt.zygosity_for_alt(1) is Zygosity.ABSENT
|
|
206
|
+
|
|
207
|
+
|
|
208
|
+
def test_zygosity_haploid_single_alt():
|
|
209
|
+
# chrY in a male with an alt call: GT = 1.
|
|
210
|
+
gt = Genotype.from_sample_info({"GT": "1"})
|
|
211
|
+
# Single-allele calls with that allele equal to alt: all copies
|
|
212
|
+
# are alt → classify as HOMOZYGOUS.
|
|
213
|
+
assert gt.zygosity_for_alt(1) is Zygosity.HOMOZYGOUS
|
|
214
|
+
assert gt.carries_alt(1)
|
|
215
|
+
|
|
216
|
+
|
|
217
|
+
def test_zygosity_partial_call():
|
|
218
|
+
# GT = ./1: one allele missing, the other is alt #1.
|
|
219
|
+
# Out of the called alleles (just one), all are alt #1 → HOMOZYGOUS.
|
|
220
|
+
# This is the defensible read: we count called alleles only.
|
|
221
|
+
gt = Genotype.from_sample_info({"GT": "./1"})
|
|
222
|
+
assert gt.zygosity_for_alt(1) is Zygosity.HOMOZYGOUS
|
|
223
|
+
|
|
224
|
+
|
|
225
|
+
# ------------------------------------------------------------------
|
|
226
|
+
# Per-allele depth lookup
|
|
227
|
+
# ------------------------------------------------------------------
|
|
228
|
+
|
|
229
|
+
|
|
230
|
+
def test_depth_for_alt():
|
|
231
|
+
gt = Genotype.from_sample_info({"GT": "0/1", "AD": [10, 5]})
|
|
232
|
+
assert gt.depth_for_alt(0) == 10 # ref depth
|
|
233
|
+
assert gt.depth_for_alt(1) == 5 # first alt depth
|
|
234
|
+
assert gt.depth_for_alt(2) is None # out of range
|
|
235
|
+
|
|
236
|
+
|
|
237
|
+
def test_depth_for_alt_returns_none_when_ad_missing():
|
|
238
|
+
gt = Genotype.from_sample_info({"GT": "0/1"})
|
|
239
|
+
assert gt.depth_for_alt(1) is None
|
|
240
|
+
|
|
241
|
+
|
|
242
|
+
def test_depth_for_alt_multiallelic():
|
|
243
|
+
# AD has one entry per allele (ref + each alt).
|
|
244
|
+
gt = Genotype.from_sample_info({"GT": "1/2", "AD": [3, 7, 5]})
|
|
245
|
+
assert gt.depth_for_alt(0) == 3
|
|
246
|
+
assert gt.depth_for_alt(1) == 7
|
|
247
|
+
assert gt.depth_for_alt(2) == 5
|
|
248
|
+
|
|
249
|
+
|
|
250
|
+
# ------------------------------------------------------------------
|
|
251
|
+
# Dataclass-y ergonomics: hashable, equatable, frozen
|
|
252
|
+
# ------------------------------------------------------------------
|
|
253
|
+
|
|
254
|
+
|
|
255
|
+
def test_genotype_is_frozen():
|
|
256
|
+
gt = Genotype.from_sample_info({"GT": "0/1"})
|
|
257
|
+
with pytest.raises((AttributeError, Exception)):
|
|
258
|
+
gt.alleles = (1, 1) # type: ignore
|
|
259
|
+
|
|
260
|
+
|
|
261
|
+
def test_genotype_equality():
|
|
262
|
+
a = Genotype.from_sample_info({"GT": "0/1", "AD": [10, 5], "DP": 15})
|
|
263
|
+
b = Genotype.from_sample_info({"GT": "0/1", "AD": [10, 5], "DP": 15})
|
|
264
|
+
assert a == b
|
|
265
|
+
c = Genotype.from_sample_info({"GT": "1/1", "AD": [0, 15], "DP": 15})
|
|
266
|
+
assert a != c
|
|
@@ -0,0 +1,248 @@
|
|
|
1
|
+
# Licensed under the Apache License, Version 2.0 (the "License");
|
|
2
|
+
# you may not use this file except in compliance with the License.
|
|
3
|
+
# You may obtain a copy of the License at
|
|
4
|
+
#
|
|
5
|
+
# http://www.apache.org/licenses/LICENSE-2.0
|
|
6
|
+
#
|
|
7
|
+
# Unless required by applicable law or agreed to in writing, software
|
|
8
|
+
# distributed under the License is distributed on an "AS IS" BASIS,
|
|
9
|
+
# WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied.
|
|
10
|
+
# See the License for the specific language governing permissions and
|
|
11
|
+
# limitations under the License.
|
|
12
|
+
|
|
13
|
+
"""
|
|
14
|
+
End-to-end tests for VariantCollection genotype/zygosity access —
|
|
15
|
+
exercises the full path from VCF → Variant → Genotype (openvax/varcode#267).
|
|
16
|
+
"""
|
|
17
|
+
|
|
18
|
+
import os
|
|
19
|
+
import tempfile
|
|
20
|
+
|
|
21
|
+
import pytest
|
|
22
|
+
|
|
23
|
+
from varcode import (
|
|
24
|
+
Genotype,
|
|
25
|
+
SampleNotFoundError,
|
|
26
|
+
Zygosity,
|
|
27
|
+
load_vcf,
|
|
28
|
+
)
|
|
29
|
+
|
|
30
|
+
|
|
31
|
+
VCF_BODY = """##fileformat=VCFv4.1
|
|
32
|
+
##reference=GRCh38
|
|
33
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
34
|
+
##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allele depths">
|
|
35
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth">
|
|
36
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype quality">
|
|
37
|
+
##FORMAT=<ID=PS,Number=1,Type=Integer,Description="Phase set">
|
|
38
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT tumor normal
|
|
39
|
+
17 43082575 . C T 100 PASS . GT:AD:DP:GQ 0/1:10,5:15:99 0/0:20,0:20:99
|
|
40
|
+
7 117531114 . G T 100 PASS . GT:AD:DP:GQ 1/1:0,20:20:99 0/1:10,10:20:99
|
|
41
|
+
1 100 . A T,G 100 PASS . GT:AD:DP:GQ 1/2:5,5,5:15:99 0/1:10,5,0:15:99
|
|
42
|
+
17 43082576 . C A 100 PASS . GT:AD:DP:GQ:PS 0|1:8,7:15:99:100 ./.:.:.:.:.
|
|
43
|
+
"""
|
|
44
|
+
|
|
45
|
+
|
|
46
|
+
@pytest.fixture
|
|
47
|
+
def multi_sample_vcf():
|
|
48
|
+
fd, path = tempfile.mkstemp(suffix=".vcf")
|
|
49
|
+
with os.fdopen(fd, "w") as f:
|
|
50
|
+
f.write(VCF_BODY)
|
|
51
|
+
yield path
|
|
52
|
+
os.unlink(path)
|
|
53
|
+
|
|
54
|
+
|
|
55
|
+
# -------------------------------------------------------------------
|
|
56
|
+
# Sample discovery
|
|
57
|
+
# -------------------------------------------------------------------
|
|
58
|
+
|
|
59
|
+
|
|
60
|
+
def test_samples_property_lists_names(multi_sample_vcf):
|
|
61
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
62
|
+
assert vc.samples == ["normal", "tumor"]
|
|
63
|
+
|
|
64
|
+
|
|
65
|
+
def test_has_sample_data_true_for_vcf_with_samples(multi_sample_vcf):
|
|
66
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
67
|
+
assert vc.has_sample_data() is True
|
|
68
|
+
|
|
69
|
+
|
|
70
|
+
def test_has_sample_data_false_for_directly_constructed(multi_sample_vcf):
|
|
71
|
+
# Directly-constructed variants have no sample_info metadata.
|
|
72
|
+
from varcode import Variant, VariantCollection
|
|
73
|
+
vc = VariantCollection(variants=[
|
|
74
|
+
Variant("17", 43082575, "C", "T", "GRCh38"),
|
|
75
|
+
])
|
|
76
|
+
assert vc.has_sample_data() is False
|
|
77
|
+
assert vc.samples == []
|
|
78
|
+
|
|
79
|
+
|
|
80
|
+
# -------------------------------------------------------------------
|
|
81
|
+
# Per-variant genotype access
|
|
82
|
+
# -------------------------------------------------------------------
|
|
83
|
+
|
|
84
|
+
|
|
85
|
+
def test_genotype_for_heterozygous_sample(multi_sample_vcf):
|
|
86
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
87
|
+
# chr17:43082575 C>T — tumor 0/1, normal 0/0.
|
|
88
|
+
variant = next(
|
|
89
|
+
v for v in vc if v.start == 43082575 and v.alt == "T"
|
|
90
|
+
)
|
|
91
|
+
tumor_gt = vc.genotype(variant, "tumor")
|
|
92
|
+
assert tumor_gt.alleles == (0, 1)
|
|
93
|
+
assert tumor_gt.is_called
|
|
94
|
+
assert tumor_gt.zygosity_for_alt(1) is Zygosity.HETEROZYGOUS
|
|
95
|
+
assert tumor_gt.allele_depths == (10, 5)
|
|
96
|
+
assert tumor_gt.genotype_quality == 99
|
|
97
|
+
|
|
98
|
+
normal_gt = vc.genotype(variant, "normal")
|
|
99
|
+
assert normal_gt.alleles == (0, 0)
|
|
100
|
+
assert normal_gt.zygosity_for_alt(1) is Zygosity.ABSENT
|
|
101
|
+
|
|
102
|
+
|
|
103
|
+
def test_genotype_for_homozygous_sample(multi_sample_vcf):
|
|
104
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
105
|
+
variant = next(v for v in vc if v.start == 117531114)
|
|
106
|
+
tumor_gt = vc.genotype(variant, "tumor")
|
|
107
|
+
assert tumor_gt.alleles == (1, 1)
|
|
108
|
+
assert tumor_gt.zygosity_for_alt(1) is Zygosity.HOMOZYGOUS
|
|
109
|
+
|
|
110
|
+
|
|
111
|
+
def test_genotype_phased_call_preserves_phase_info(multi_sample_vcf):
|
|
112
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
113
|
+
variant = next(v for v in vc if v.start == 43082576)
|
|
114
|
+
tumor_gt = vc.genotype(variant, "tumor")
|
|
115
|
+
assert tumor_gt.phased is True
|
|
116
|
+
assert tumor_gt.phase_set == 100
|
|
117
|
+
|
|
118
|
+
|
|
119
|
+
def test_genotype_nocall(multi_sample_vcf):
|
|
120
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
121
|
+
variant = next(v for v in vc if v.start == 43082576)
|
|
122
|
+
normal_gt = vc.genotype(variant, "normal")
|
|
123
|
+
assert normal_gt.is_missing
|
|
124
|
+
assert normal_gt.zygosity_for_alt(1) is Zygosity.MISSING
|
|
125
|
+
|
|
126
|
+
|
|
127
|
+
def test_genotype_unknown_sample_raises(multi_sample_vcf):
|
|
128
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
129
|
+
variant = vc[0]
|
|
130
|
+
with pytest.raises(SampleNotFoundError):
|
|
131
|
+
vc.genotype(variant, "nonexistent_sample")
|
|
132
|
+
|
|
133
|
+
|
|
134
|
+
def test_sample_not_found_is_key_error_subclass():
|
|
135
|
+
# Callers who only catch KeyError should still work.
|
|
136
|
+
assert issubclass(SampleNotFoundError, KeyError)
|
|
137
|
+
|
|
138
|
+
|
|
139
|
+
def test_genotype_returns_none_for_variant_without_sample_info():
|
|
140
|
+
# A variant that wasn't loaded from a multi-sample VCF.
|
|
141
|
+
from varcode import Variant, VariantCollection
|
|
142
|
+
v = Variant("17", 43082575, "C", "T", "GRCh38")
|
|
143
|
+
vc = VariantCollection(variants=[v])
|
|
144
|
+
assert vc.genotype(v, "anyone") is None
|
|
145
|
+
|
|
146
|
+
|
|
147
|
+
# -------------------------------------------------------------------
|
|
148
|
+
# Multi-allelic sites
|
|
149
|
+
# -------------------------------------------------------------------
|
|
150
|
+
|
|
151
|
+
|
|
152
|
+
def test_multiallelic_row_splits_into_separate_variants_with_own_genotype(
|
|
153
|
+
multi_sample_vcf):
|
|
154
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
155
|
+
# chr1:100 A>T,G — tumor has GT=1/2 (one T, one G).
|
|
156
|
+
at = next(v for v in vc if v.start == 100 and v.alt == "T")
|
|
157
|
+
ag = next(v for v in vc if v.start == 100 and v.alt == "G")
|
|
158
|
+
|
|
159
|
+
# Relative to each alt, the tumor is heterozygous (carries one
|
|
160
|
+
# copy of this alt and one copy of a different alt).
|
|
161
|
+
assert vc.zygosity(at, "tumor") is Zygosity.HETEROZYGOUS
|
|
162
|
+
assert vc.zygosity(ag, "tumor") is Zygosity.HETEROZYGOUS
|
|
163
|
+
|
|
164
|
+
# Normal has GT=0/1 (one ref, one T). Relative to T: het.
|
|
165
|
+
# Relative to G: absent (normal doesn't have the G alt).
|
|
166
|
+
assert vc.zygosity(at, "normal") is Zygosity.HETEROZYGOUS
|
|
167
|
+
assert vc.zygosity(ag, "normal") is Zygosity.ABSENT
|
|
168
|
+
|
|
169
|
+
|
|
170
|
+
# -------------------------------------------------------------------
|
|
171
|
+
# Convenience filters
|
|
172
|
+
# -------------------------------------------------------------------
|
|
173
|
+
|
|
174
|
+
|
|
175
|
+
def test_for_sample_filters_to_variants_carried_by_that_sample(
|
|
176
|
+
multi_sample_vcf):
|
|
177
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
178
|
+
|
|
179
|
+
tumor_variants = vc.for_sample("tumor")
|
|
180
|
+
# Tumor carries all 4 variant-derived alts except normal-only ones.
|
|
181
|
+
# Check concretely:
|
|
182
|
+
# - 17:43082575 C>T: tumor 0/1 -> het, carried
|
|
183
|
+
# - 7:117531114 G>T: tumor 1/1 -> hom, carried
|
|
184
|
+
# - 1:100 A>T: tumor 1/2 -> carries T (alt #1)
|
|
185
|
+
# - 1:100 A>G: tumor 1/2 -> carries G (alt #2)
|
|
186
|
+
# - 17:43082576 C>A: tumor 0|1 -> het, carried
|
|
187
|
+
assert len(tumor_variants) == 5
|
|
188
|
+
|
|
189
|
+
normal_variants = vc.for_sample("normal")
|
|
190
|
+
# - 17:43082575 C>T: normal 0/0 -> absent
|
|
191
|
+
# - 7:117531114 G>T: normal 0/1 -> het, carried
|
|
192
|
+
# - 1:100 A>T: normal 0/1 -> carries T
|
|
193
|
+
# - 1:100 A>G: normal 0/1 -> absent (normal doesn't have G)
|
|
194
|
+
# - 17:43082576 C>A: normal ./. -> missing, not carried
|
|
195
|
+
assert len(normal_variants) == 2
|
|
196
|
+
|
|
197
|
+
|
|
198
|
+
def test_heterozygous_in_excludes_homozygous_calls(multi_sample_vcf):
|
|
199
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
200
|
+
het_in_tumor = vc.heterozygous_in("tumor")
|
|
201
|
+
starts = sorted(v.start for v in het_in_tumor)
|
|
202
|
+
# Tumor is het at:
|
|
203
|
+
# - 17:43082575 (0/1)
|
|
204
|
+
# - 1:100 (1/2 — het for both T and G)
|
|
205
|
+
# - 17:43082576 (0|1)
|
|
206
|
+
# NOT at 7:117531114 (1/1 is hom, not het)
|
|
207
|
+
assert starts == [100, 100, 43082575, 43082576]
|
|
208
|
+
|
|
209
|
+
|
|
210
|
+
def test_homozygous_alt_in(multi_sample_vcf):
|
|
211
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
212
|
+
hom_in_tumor = vc.homozygous_alt_in("tumor")
|
|
213
|
+
assert len(hom_in_tumor) == 1
|
|
214
|
+
assert hom_in_tumor[0].start == 117531114
|
|
215
|
+
|
|
216
|
+
|
|
217
|
+
def test_for_sample_with_unknown_sample_raises(multi_sample_vcf):
|
|
218
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
219
|
+
# Fail fast on typos rather than silently returning empty.
|
|
220
|
+
with pytest.raises(SampleNotFoundError):
|
|
221
|
+
vc.for_sample("nonexistent")
|
|
222
|
+
|
|
223
|
+
|
|
224
|
+
def test_filter_chain_composes(multi_sample_vcf):
|
|
225
|
+
# Cross-sample queries fall out of set operations on the primitives.
|
|
226
|
+
vc = load_vcf(multi_sample_vcf, genome="GRCh38")
|
|
227
|
+
# "In tumor but not in normal" — somatic candidates.
|
|
228
|
+
tumor_set = set(vc.for_sample("tumor"))
|
|
229
|
+
normal_set = set(vc.for_sample("normal"))
|
|
230
|
+
somatic = tumor_set - normal_set
|
|
231
|
+
# Tumor carries: 17:43082575, 7:117531114, 1:100(T), 1:100(G), 17:43082576.
|
|
232
|
+
# Normal carries: 7:117531114, 1:100(T).
|
|
233
|
+
# Somatic = 17:43082575, 1:100(G), 17:43082576.
|
|
234
|
+
assert len(somatic) == 3
|
|
235
|
+
starts = sorted(v.start for v in somatic)
|
|
236
|
+
assert starts == [100, 43082575, 43082576]
|
|
237
|
+
|
|
238
|
+
|
|
239
|
+
# -------------------------------------------------------------------
|
|
240
|
+
# Package-level exports
|
|
241
|
+
# -------------------------------------------------------------------
|
|
242
|
+
|
|
243
|
+
|
|
244
|
+
def test_package_level_exports():
|
|
245
|
+
import varcode
|
|
246
|
+
assert varcode.Genotype is Genotype
|
|
247
|
+
assert varcode.Zygosity is Zygosity
|
|
248
|
+
assert varcode.SampleNotFoundError is SampleNotFoundError
|
|
@@ -11,7 +11,8 @@
|
|
|
11
11
|
# See the License for the specific language governing permissions and
|
|
12
12
|
# limitations under the License.
|
|
13
13
|
|
|
14
|
-
from .errors import ReferenceMismatchError
|
|
14
|
+
from .errors import ReferenceMismatchError, SampleNotFoundError
|
|
15
|
+
from .genotype import Genotype, Zygosity
|
|
15
16
|
from .variant import Variant
|
|
16
17
|
from .variant_collection import VariantCollection
|
|
17
18
|
from .maf import load_maf, load_maf_dataframe
|
|
@@ -33,6 +34,10 @@ __all__ = [
|
|
|
33
34
|
"EffectCollection",
|
|
34
35
|
"VariantCollection",
|
|
35
36
|
|
|
37
|
+
# genotype / zygosity
|
|
38
|
+
"Genotype",
|
|
39
|
+
"Zygosity",
|
|
40
|
+
|
|
36
41
|
# effects
|
|
37
42
|
"effect_priority",
|
|
38
43
|
"top_priority_effect",
|
|
@@ -41,6 +46,7 @@ __all__ = [
|
|
|
41
46
|
|
|
42
47
|
# exceptions
|
|
43
48
|
"ReferenceMismatchError",
|
|
49
|
+
"SampleNotFoundError",
|
|
44
50
|
|
|
45
51
|
# file loading
|
|
46
52
|
"load_maf",
|
|
@@ -260,9 +260,12 @@ class EffectCollection(Collection):
|
|
|
260
260
|
Dictionary mapping transcript IDs to length-normalized expression
|
|
261
261
|
levels (either FPKM or TPM)
|
|
262
262
|
|
|
263
|
-
Returns
|
|
264
|
-
|
|
265
|
-
|
|
263
|
+
Returns
|
|
264
|
+
-------
|
|
265
|
+
OrderedDict
|
|
266
|
+
Mapping from each transcript effect to an expression quantity.
|
|
267
|
+
Effects that don't have an associated transcript (e.g. Intergenic)
|
|
268
|
+
are excluded.
|
|
266
269
|
"""
|
|
267
270
|
return OrderedDict(
|
|
268
271
|
(effect, expression_levels.get(effect.transcript.id, 0.0))
|
|
@@ -18,6 +18,11 @@ Exception types raised by varcode. ``ReferenceMismatchError`` subclasses
|
|
|
18
18
|
"""
|
|
19
19
|
|
|
20
20
|
|
|
21
|
+
class SampleNotFoundError(KeyError):
|
|
22
|
+
"""Raised when genotype info is requested for a sample that isn't
|
|
23
|
+
present in the VariantCollection's source VCF(s)."""
|
|
24
|
+
|
|
25
|
+
|
|
21
26
|
class ReferenceMismatchError(ValueError):
|
|
22
27
|
"""Raised when a variant's reported ref allele does not match the
|
|
23
28
|
reference genome at the variant's position.
|