Polygenic Risk Scores performance in diverse ancestry populations

Polygenic risk scores (PRS) summarise the genetic information spread across several genetic variants into one single number. This number can be use to predict an individual’s phenotype or - more realistically - to place an individual in risk groups according to their PRS.

Many different steps are involved in calculating a PRS that is meaningful. For instance, the quality of the summary statistics is paramount. The choice of which variants to include in the PRS is also far from trivial and can involve simple ad hoc approaches (such as C+T) or model-based approaches such as LDpred and LDpred2. Finally, there are the issues of validation and overfitting in the validation set, as well as the even more complicated issue of transferability of polygenic risk scores across ancestries. This project touches upon all of these issues, but particularly on the latter.

Publications

Cox, SL; Moots, H; Stock, JT; Shbat, A; Bitarello, BD; Nicklisch, N; Alt, K; Haak, W; Rosenstock, E; Ruff, CB; Mathieson, I. Predicting skeletal stature using ancient DNA. American Journal of Physical Anthropology. 2021 Please see my talks, presentations, and papers/preprints for more information.

Bitarello, BD; Mathieson, I. Polygenic scores for height in admixed populations. G3:Genes, Genomes, Genetics. 2020.