v1.0.0

This release reliably calculates scores that contain chromosomal positions (scores with only rsID information will fail). Significant effort has been made to validate scores on different reference datasets. In the next release we'll add score validation to our test suite to make sure calculated scores are consistent between releases.

Changelog

• Add support for PLINK2 format (samplesheet structure changed)
• Add support for allosomes (e.g. X, Y)
• Improve PGS Catalog compatibility (e.g. missing other allele)
• Add automatic liftover of scoring files to match target genome build
• Performance improvements to support UK BioBank scale data (500,000 genomes)
• Support calculation of multiple scores in parallel
• Significantly improved test coverage (> 80%)
• Lots of other small changes to improve correctness and handling edge cases

In Development

This is marked as a pre-release because it will will fail for PGS Catalog scores that only have an rsID. Mapped positions will eventually be provided for existing scores via the PGS Catalog API and these will be integrated into the calculator pipeline.