Fig. 1: Precision PSA project workflow and composition.

The discovery GWAS analysis revealed 318 genome-wide significant (P < 5 × 10−8, two-sided test) variants associated with PSA, of which 184 were novel. The joint analysis (consisting of the discovery and replication cohorts) revealed 447 genome-wide significant variants associated with PSA, of which an additional 111 were novel. Both discovery and joint GWAS results were used to develop PRSs for PSA, which were then evaluated in GERA (when out of sample), PCPT and SELECT. Sig, significant; SNP, single-nucleotide polymorphism.