Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability.
Ontology highlight
ABSTRACT: In polygenic score (PGS) analysis, the coefficient of determination (R2) is a key statistic to evaluate efficacy. R2 is the proportion of phenotypic variance explained by the PGS, calculated in a cohort that is independent of the genome-wide association study (GWAS) that provided estimates of allelic effect sizes. The SNP-based heritability (hSNP2, the proportion of total phenotypic variances attributable to all common SNPs) is the theoretical upper limit of the out-of-sample prediction R2. However, in real data analyses R2 has been reported to exceed hSNP2, which occurs in parallel with the observation that hSNP2 estimates tend to decline as the number of cohorts being meta-analyz
SUBMITTER: Wang X
PROVIDER: S-EPMC10357496 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
ACCESS DATA