Ancestry Matters: Lack of Representation of Human Genetic Diversity in Genomic Databases

I was delighted to have been invited as one of the guest speakers for this series of talks, followed by an in-person discussion in Boston.

Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations

This week in Journal Club at the Mathieson Lab we discussed the recently published paper by Wang et. al (2020) on the theoretical aspects of the transferability of polygenic risk scores across ancestries.

Polygenic risk scores perform poorly across populations

Abstract | The vast majority of genome-wide association studies (GWAS) are performed in cohorts of European ancestry. Systematic differences in polygenic risk scores (PRS) between European and non-European ancestry populations are believed to be largely spurious. However, it is not clear whether they are completely inaccurate nor how much individual-level predictive power is lost by applying PRS based on European-ancestry GWAS to non-European ancestry populations. Finally, a quantitative understanding of the biological or statistical basis for the poor performance of PRS in non-European-ancestry populations is lacking.