Polygenic

PoPS (Polygenic Priority Score) is a method that learns trait-relevant gene features, such as cell-type-specific expression, to prioritize genes at GWAS loci. It leverages polygenic enrichments across multiple gene features to predict causal genes underlying complex traits and diseases. Published in Nature Genetics.

Genome-wide association studies (GWASs) are a valuable tool for understanding the biology of complex human traits and diseases, but associated variants rarely point directly to causal genes. In the present study, we introduce a new method, polygenic priority score (PoPS), that learns trait-relevant gene features, such as cell-type-specific expression, to prioritize genes at GWAS loci. PoPS and the closest gene individually outperform other gene prioritization methods.