The latest publication from the OPTOMICS project has been released by the Journal of Human Genetics and Genomics Advances, titled “Bridging the diversity gap: analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction.” In the work, which was led by researchers at the Institute of Translational Genomics at Helmholtz Munich, the predictive performance of polygenic scores (PGS) used as the basis for genome-wide association studies (GWAS) was evaluated using multiple genetic architectures and ancestry configurations. The results showed that predictive performance can be strongly affected by cross-ancestry genetic heterogeneity, as well as diminished performance in under-represented target populations, highlighting the need to rebalance the ancestral composition of GWAS in order to enable accurate predictions in non-European ancestry groups. 

The work performed in this study will lay the foundations for later work in the development of the OPTOMICS Digital Twin for type-2 diabetes, a complex trait that was also explored in the paper.