PRS-on-Spark (PRSoS) : a novel, efficient and flexible approach for generating polygenic risk scores

Background Polygenicrisk scores (PRS) describe the genomic contribution to complex phenotypes and consistently account for a larger proportion of variance in outcome than single nucleotide polymorphisms( SNPs) alone. However, there is little consensus on the optimal data input for generating PRS, and existing approaches largely preclude the use of imputed posterior probabilitiesand strand-ambiguous SNPsi.e., A/T or C/G polymorphisms. Our ability to predict complex traits that arise from the additive effects of a large number of SNPswould likely benefit from a more inclusive approach.