Addressing the challenges of polygenic scores in human genetic research

The genotyping of millions of human samples has made it possible to evaluate variants across the human genome for their possible association with risks for numerous diseases and other traits by using genome-wide association studies (GWASs). The associations between phenotype and genotype found in GWASs make possible the construction of polygenic scores (PGSs), which aim to predict a trait or disease outcome in an individual on the basis of their genotype (in the disease case, the term polygenic risk score [PRS] is often used).

Source: The American Journal of Human Genetics - December 1, 2022 Category: Genetics & Stem Cells Authors: John Novembre, Catherine Stein, Samira Asgari, Claudia Gonzaga-Jauregui, Andrew Landstrom, Amy Lemke, Jun Li, Chloe Mighton, Matthew Taylor, Sarah Tishkoff Tags: ASHG Guidance Source Type: research