Polygenic risk modeling with latent trait-related genetic components

Published in European Journal of Human Genetics, 2021

Polygenic risk score (PRS) has been proposed for disease risk prediction with potential clinical relevance for some traits, but its personalized interpretation is generally difficult, especially when there exist disease subtypes driven by different genetic components.

In this study led by Matthew Aguirre, we introduce dPRS (DeGAs-PRS) as an extension of Decomposition of Genetic Associations (DeGAs) to decompose the polygenic risk of individuals into latent components of genetic associations characterized from hundreds of thousands of traits.

dPRS figure 1

Reference: M. Aguirre, Y. Tanigawa, G. R. Venkataraman, R. Tibshirani, T. Hastie, M. A. Rivas, Polygenic risk modeling with latent trait-related genetic components. Eur J Hum Genet. 29(7), 1071-1081 (2021). https://doi.org/10.1038/s41431-021-00813-0 (full text)