Inclusion of variants discovered from diverse populations improves polygenic risk score transferability

TB Cavazos, JS Witte - Human Genetics and Genomics Advances, 2021 - cell.com
The majority of polygenic risk scores (PRSs) have been developed and optimized in
individuals of European ancestry and may have limited generalizability across other …

Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

The construction of cross-population polygenic risk scores using transfer learning

Z Zhao, LG Fritsche, JA Smith, B Mukherjee… - The American Journal of …, 2022 - cell.com
As most existing genome-wide association studies (GWASs) were conducted in European-
ancestry cohorts, and as the existing polygenic risk score (PRS) models have limited …

BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability

CJ Hoggart, SW Choi, J García-González, T Souaiaia… - Nature Genetics, 2024 - nature.com
Here we present BridgePRS, a novel Bayesian polygenic risk score (PRS) method that
leverages shared genetic effects across ancestries to increase PRS portability. We evaluate …

Clinical use of current polygenic risk scores may exacerbate health disparities

AR Martin, M Kanai, Y Kamatani, Y Okada, BM Neale… - Nature …, 2019 - nature.com
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …

Polygenic risk scores: from research tools to clinical instruments

CM Lewis, E Vassos - Genome medicine, 2020 - Springer
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …

Analysis of polygenic risk score usage and performance in diverse human populations

L Duncan, H Shen, B Gelaye, J Meijsen… - Nature …, 2019 - nature.com
A historical tendency to use European ancestry samples hinders medical genetics research,
including the use of polygenic scores, which are individual-level metrics of genetic risk. We …

Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

Low and differential polygenic score generalizability among African populations due largely to genetic diversity

L Majara, A Kalungi, N Koen, K Tsuo, Y Wang… - Human Genetics and …, 2023 - cell.com
African populations are vastly underrepresented in genetic studies but have the most
genetic variation and face wide-ranging environmental exposures globally. Because …

Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries

Y Liang, M Pividori, A Manichaikul, AA Palmer, NJ Cox… - Genome biology, 2022 - Springer
Background Polygenic risk scores (PRS) are valuable to translate the results of genome-
wide association studies (GWAS) into clinical practice. To date, most GWAS have been …