Published August 24, 2022 | Version v0.1.1
Software Open

PGScatalog/pgscatalog_utils: v0.1.1

  • 1. EMBL-EBI
  • 2. @PGScatalog / @InouyeLab, University of Cambridge
  • 3. Wellcome Sanger Institute & HDR-UK

Description

Initial release of PGS Catalog utilities

This package currently exists to support the development of the PGS Catalog Calculator, but might be useful for users of the PGS Catalog. The initial release of this package has the following features:

  • Bulk download scoring files from the PGS Catalog using trait, publication, and polygenic score IDs
  • Combine multiple scoring files that follow the PGS Catalog standard (including custom unpublished scoring files) into a single file, optionally lifting over and using harmonised data where available
  • Match variants from a combined scorefile against a set of target genomes in plink, creating score files compatible with the plink2 --score parameter

More documentation can be found for each script by invoking the script with the --help parameter..

Files

PGScatalog/pgscatalog_utils-v0.1.1.zip

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