Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants.

ABSTRACT: The reconciliation between Mendelian inheritance of discrete traits and the genetically based correlation between relatives for quantitative traits was Fisher's infinitesimal model of a large number of genetic variants, each with very small effects, whose causal effects could not be individually identified. The development of genome-wide genetic association studies (GWAS) raised the hope that it would be possible to identify single polymorphic variants with identifiable functional effects on complex traits. It soon became clear that, with larger and larger GWAS on more and more complex traits, most of the significant associations had such small effects, that identifying their individual functional effects was essentially hopeless. Polygenic risk scores that provide an overall estimate of t

SUBMITTER: Crouch DJM 

PROVIDER: S-EPMC7431089 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature