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Merge pull request #781 from broadinstitute/jg/add_may_2025_clinvar_resource
Add May 2025 clinvar resource
2 parents 6d0b27b + 6b8ab8a commit 9f2bf00

1 file changed

Lines changed: 23 additions & 2 deletions

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gnomad/resources/grch38/reference_data.py

Lines changed: 23 additions & 2 deletions
Original file line numberDiff line numberDiff line change
@@ -5,6 +5,10 @@
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import hail as hl
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from hail import Table
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from gnomad.resources.config import (
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GnomadPublicResourceSource,
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gnomad_public_resource_configuration,
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)
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from gnomad.resources.grch37.reference_data import _import_gtex_rsem
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from gnomad.resources.resource_utils import (
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DBSNP_B154_CHR_CONTIG_RECODING,
@@ -46,7 +50,12 @@ def _import_clinvar(**kwargs) -> hl.Table:
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clinvar = clinvar.filter(
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hl.len(clinvar.alleles) > 1
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) # Get around problematic single entry in alleles array in the clinvar vcf
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_curr_source = gnomad_public_resource_configuration.source
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gnomad_public_resource_configuration.source = (
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GnomadPublicResourceSource.GOOGLE_CLOUD_PUBLIC_DATASETS
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)
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clinvar = vep_or_lookup_vep(clinvar, reference="GRCh38")
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gnomad_public_resource_configuration.source = _curr_source
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return clinvar
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@@ -208,8 +217,20 @@ def _import_ensembl_interval(path) -> hl.Table:
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)
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clinvar = VersionedTableResource(
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default_version="20190923",
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default_version="20250504",
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versions={
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"20250504": GnomadPublicTableResource(
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path="gs://gnomad-public-requester-pays/resources/grch38/clinvar/clinvar_20250504.ht",
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import_func=_import_clinvar,
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import_args={
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"path": "gs://gcp-public-data--gnomad/resources/grch38/clinvar/clinvar_20250504.vcf.gz",
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"force_bgz": True,
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"contig_recoding": NO_CHR_TO_CHR_CONTIG_RECODING,
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"skip_invalid_loci": True,
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"min_partitions": 100,
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"reference_genome": "GRCh38",
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},
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),
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"20190923": GnomadPublicTableResource(
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path="gs://gnomad-public-requester-pays/resources/grch38/clinvar/clinvar_20190923.ht",
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import_func=_import_clinvar,
@@ -221,7 +242,7 @@ def _import_ensembl_interval(path) -> hl.Table:
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"min_partitions": 100,
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"reference_genome": "GRCh38",
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},
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)
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),
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},
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)
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