Paper detail

PolyLinkR: A linkage-sensitive gene set enrichment R package

We introduce PolyLinkR, an R package for gene set enrichment analysis that implements a novel null-model that accounts for linkage disequilibrium between genes belonging to the same gene set - a potential cause of false positives that is often not controlled for in similar tools. Our benchmarks show that PolyLinkR has improved performance compared to two similar tools, achieving comparable power to detect enriched gene sets while producing less than one falsely detected gene set on average, even at high genetic clustering levels and nominal false discovery rates of 20%.