[PDF][PDF] Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort

F Privé, H Aschard, S Carmi, L Folkersen… - The American Journal of …, 2022 - cell.com
The low portability of polygenic scores (PGSs) across global populations is a major concern
that must be addressed before PGSs can be used for everyone in the clinic. Indeed …

[HTML][HTML] Polygenic scoring accuracy varies across the genetic ancestry continuum

Y Ding, K Hou, Z Xu, A Pimplaskar, E Petter, K Boulier… - Nature, 2023 - nature.com
Polygenic scores (PGSs) have limited portability across different groupings of individuals (for
example, by genetic ancestries and/or social determinants of health), preventing their …

Variable prediction accuracy of polygenic scores within an ancestry group

H Mostafavi, A Harpak, I Agarwal, D Conley… - elife, 2020 - elifesciences.org
Fields as diverse as human genetics and sociology are increasingly using polygenic scores
based on genome-wide association studies (GWAS) for phenotypic prediction. However …

[PDF][PDF] Stability of polygenic scores across discovery genome-wide association studies

LM Schultz, AK Merikangas, K Ruparel… - Human Genetics and …, 2022 - cell.com
Polygenic scores (PGS) are commonly evaluated in terms of their predictive accuracy at the
population level by the proportion of phenotypic variance they explain. To be useful for …

[HTML][HTML] 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 …

[PDF][PDF] 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 …

[PDF][PDF] 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 …

[HTML][HTML] Heterogeneity in polygenic scores for common human traits

EB Ware, LL Schmitz, J Faul, A Gard, C Mitchell… - BioRxiv, 2017 - biorxiv.org
This study investigates the creation of polygenic scores (PGS) s for human population
research. PGSs are a linear, usually weighted, combination of risk alleles that estimate the …

[PDF][PDF] 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 …

Polygenic scores for height in admixed populations

BD Bitarello, I Mathieson - G3: Genes, Genomes, Genetics, 2020 - academic.oup.com
Polygenic risk scores (PRS) use the results of genome-wide association studies (GWAS) to
predict quantitative phenotypes or disease risk at an individual level, and provide a potential …