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Pull request overview
This PR adds release code and resources for gnomAD v5, including functions to manage release paths and a comprehensive script to create release sites Hail Tables.
Changes:
- Added new resource functions for release paths and versioned table resources
- Created a complete pipeline script for generating release sites Hail Tables
- Added frequency annotation documentation and version tracking
Reviewed changes
Copilot reviewed 2 out of 2 changed files in this pull request and generated 9 comments.
| File | Description |
|---|---|
| gnomad_qc/v5/resources/release.py | Added functions for managing release paths (included datasets JSON, release HT paths) and a versioned table resource, plus frequency README documentation |
| gnomad_qc/v5/create_release/create_release_sites_ht.py | New script implementing the full release sites HT creation pipeline with configuration management, table joining, and field selection logic |
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Co-authored-by: Copilot <175728472+Copilot@users.noreply.github.com>
Co-authored-by: Copilot <175728472+Copilot@users.noreply.github.com>
Co-authored-by: Copilot <175728472+Copilot@users.noreply.github.com>
Co-authored-by: Copilot <175728472+Copilot@users.noreply.github.com>
Co-authored-by: Copilot <175728472+Copilot@users.noreply.github.com>
Co-authored-by: Copilot <175728472+Copilot@users.noreply.github.com>
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Pull request overview
Copilot reviewed 5 out of 5 changed files in this pull request and generated 16 comments.
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Co-authored-by: Copilot <175728472+Copilot@users.noreply.github.com>
Co-authored-by: Copilot <175728472+Copilot@users.noreply.github.com>
Co-authored-by: Copilot <175728472+Copilot@users.noreply.github.com>
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Pull request overview
Copilot reviewed 5 out of 5 changed files in this pull request and generated 9 comments.
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gnomad_qc/v5/create_release/create_release_utils.py:31
create_release_sites_ht.pyimportsremove_missing_vep_fieldsfrom this module, butcreate_release_utils.pydoesn't define it, so the release script will fail at import time. Add the missing helper (e.g., port it fromgnomad_qc/v4/create_release/create_release_utils.py) or remove the import/usage.
"""Common utils for creating gnomAD v5 genome release."""
import hail as hl
from gnomad_qc.v5.resources.constants import DEFAULT_VEP_VERSION
# Tool versions used in the release that were not on the source tables.
DBSNP_VERSION = "b156"
SIFT_VERSION = "5.2.2"
POLYPHEN_VERSION = "2.2.2"
VRS_SCHEMA_VERSION = "2.0.1"
VRS_PYTHON_VERSION = "2.2.0"
SEQREPO_VERSION = "2024-12-20"
# GENCODE versions by VEP version.
GENCODE_VERSIONS = {
"105": "Release 39",
"115": "Release 49",
}
# MANE Select versions by VEP version.
MANE_SELECT_VERSIONS = {
"105": "v0.95",
"115": "v1.4",
}
# Backward compatibility: default to DEFAULT_VEP_VERSION.
GENCODE_VERSION = GENCODE_VERSIONS[DEFAULT_VEP_VERSION]
MANE_SELECT_VERSION = MANE_SELECT_VERSIONS[DEFAULT_VEP_VERSION]
# NOTE: VEP 115 annotations were added in v4.1.1.
VEP_VERSIONS_TO_ADD = {"5.0": ["115"]}
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