sethsh7/PRSedm: PRSEDM version v1.3.0

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Authors: Seth A Sharp
Cited by: 0

Abstract

v1.3.0 — Performance, robustness, and proxy support improvements • Improved handling of multiallelic SNPs, including more robust allele matching and fixes for edge-case failures • Significant performance improvements from optimized SNP batching and more efficient parallel execution • Simplified and standardized command-line interface, reducing ambiguity in argument usage • Fixed bugs and inconsistencies in the SNP database backend, improving reliability of variant retrieval • PRS metadata is now automatically fetched alongside the SNP database, removing manual setup steps • Per-PRS variant log files are now generated, capturing INFO/R², missing variants, allele frequency, and scoring outcomes • Renamed the "imputation" feature to "estimate" to clearly distinguish it from genotype imputation workflows • Added support for custom proxy variant substitution via --proxy, enabling recovery of missing variants using user-defined mappings • Improved output consistency across scoring modes (additive, grouped, HLA) and more accurate tracking of missing variants via direct scoring statistics

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
1 April 2026