Admixed populations improve power for variant discovery and portability in genome-wide association studies

M Lin, DS Park, NA Zaitlen, BM Henn… - Frontiers in genetics, 2021 - frontiersin.org
Genome-wide association studies (GWAS) are primarily conducted in single-ancestry
settings. The low transferability of results has limited our understanding of human genetic …

The construction of multi-ethnic polygenic risk score using transfer learning

Z Zhao, LG Fritsche, JA Smith, B Mukherjee, S Lee - medRxiv, 2022 - medrxiv.org
As most existing genome-wide association studies (GWAS) were conducted in European
ancestry cohorts and as the existing PRS models have limited transferability across ancestry …

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

Y Wang, J Guo, G Ni, J Yang, PM Visscher… - Nature …, 2020 - nature.com
Polygenic scores (PGS) have been widely used to predict disease risk using variants
identified from genome-wide association studies (GWAS). To date, most GWAS have been …

[HTML][HTML] Comparing within-and between-family polygenic score prediction

S Selzam, SJ Ritchie, JB Pingault, CA Reynolds… - The American Journal of …, 2019 - cell.com
Polygenic scores are a popular tool for prediction of complex traits. However, prediction
estimates in samples of unrelated participants can include effects of population stratification …

Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning

R Monti, L Eick, G Hudjashov, K Läll, S Kanoni… - The American Journal of …, 2024 - cell.com
Methods of estimating polygenic scores (PGSs) from genome-wide association studies are
increasingly utilized. However, independent method evaluation is lacking, and method …

Novel methods for multi-ancestry polygenic prediction and their evaluations in 5.1 million individuals of diverse ancestry

H Zhang, J Zhan, J Jin, J Zhang, W Lu, R Zhao… - BioRxiv, 2022 - biorxiv.org
Polygenic risk scores are becoming increasingly predictive of complex traits, but their
suboptimal performance in non-European ancestry populations raises questions about their …

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - Nature Genetics, 2022 - nature.com
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …

Genetic nature or genetic nurture? Quantifying bias in analyses using polygenic scores

S Trejo, BW Domingue - BioRxiv, 2019 - biorxiv.org
Abstract Summary statistics from a genome-wide association study (GWAS) can be used to
generate a polygenic score (PGS). For complex, behavioral traits, the correlation between …

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 …

Causal effects on complex traits are similar across segments of different continental ancestries within admixed individuals

K Hou, Y Ding, Z Xu, Y Wu, A Bhattacharya, R Mester… - MedRxiv, 2022 - medrxiv.org
Individuals of admixed ancestries (eg, African Americans) inherit a mosaic of ancestry
segments (local ancestry) originating from multiple continental ancestral populations. Their …