Closed akotlar closed 1 month ago
The changes primarily involve an upgrade of the Bystro database from version 8 to version 11 of the hg38 human reference. Key updates include revised installation and configuration files, new properties for allele frequencies and functional predictions, enhanced error handling in scripts, and improved support for multiple data versions. These modifications enhance the representation of genetic data and improve overall functionality.
Files | Change Summary |
---|---|
INSTALL.md |
Updated installation instructions to reflect the change from hg38 version 8 to version 11, including new download links and database size requirements. |
config/hg38.mapping.yml |
Major updates with new properties for gnomad , logofunc , and genebass , while removing obsolete joint allele frequency properties, enhancing data representation. |
config/hg38.yml |
Configuration updates include database directory changes, new build date, added tracks, and incremented version numbers, ensuring alignment with the latest genomic data. |
python/pyproject.toml |
Version bump from "2.0.0-beta16" to "2.0.0-beta17," indicating project progression. |
python/.../preprocess_for_prs.py |
Renamed variables for allele frequency data support, added new functions for query formatting, enhanced error handling, and removed debugging prints, improving code maintainability. |
python/.../tests/test_preprocess_for_prs.py |
Updated mock DataFrames to remove the "VARIANT_ID" field, adjusting test expectations accordingly. |
Hop along, the changes bright,
From version 8 to 11's light!
With alleles mapped so fine and clear,
A rabbit's cheer, let's give a cheer!
πβ¨ New paths to explore, oh what a delight,
In the garden of data, we dance through the night!
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The benefit to PRS of this PR is that the gnomad.joint track should generally have the superset of gnomad.exomes and gnomad.genomes, except where one or the other failed QC.
Summary by CodeRabbit
Summary by CodeRabbit
New Features
Bug Fixes
Documentation
Chores