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Releases: PGScatalog/pgscatalog_utils

v0.2.0

11 Oct 11:51
afd3a53
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Changelog

  • Decreased memory usage
  • Support Zstandard compressed input data when matching variants
  • Refactor handling multiallelics and flipped matches to be consistent with duplicates / ambiguous matches
  • Handle API / FTP errors
  • Add a user agent to track API statistics

v0.1.2

15 Sep 12:52
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Changelog

  • Check genome build information when combining scorefiles
  • Fix handling of duplicate match candidates
  • When creating the log, the number of input variants now always matches the number of output variants for each input scoring file
  • Compress output log, and write a summary log now
  • Fix deduplication

v0.1.1

24 Aug 08:40
c1b5290
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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  • Combine multiple scoring files that follow the PGS Catalog standard (including custom unpublished scoring files) into a single file, optionally lifting over and using harmonised data where available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..