Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study

CS Carlson, TC Matise, KE North, CA Haiman… - PLoS …, 2013 - journals.plos.org
The vast majority of genome-wide association study (GWAS) findings reported to date are
from populations with European Ancestry (EA), and it is not yet clear how broadly the genetic …

Genetic disease risks can be misestimated across global populations

MS Kim, KP Patel, AK Teng, AJ Berens, J Lachance - Genome biology, 2018 - Springer
Background Accurate assessment of health disparities requires unbiased knowledge of
genetic risks in different populations. Unfortunately, most genome-wide association studies …

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] 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 …

Generalizing polygenic risk scores from Europeans to Hispanics/Latinos

KE Grinde, Q Qi, TA Thornton, S Liu… - Genetic …, 2019 - Wiley Online Library
Polygenic risk scores (PRSs) are weighted sums of risk allele counts of single‐nucleotide
polymorphisms (SNPs) associated with a disease or trait. PRSs are typically constructed …

[PDF][PDF] Genome-wide risk prediction of common diseases across ancestries in one million people

N Mars, S Kerminen, YCA Feng, M Kanai, K Läll… - Cell Genomics, 2022 - cell.com
Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …

[PDF][PDF] Addressing the challenges of polygenic scores in human genetic research

J Novembre, C Stein, S Asgari… - The American Journal of …, 2022 - cell.com
The genotyping of millions of human samples has made it possible to evaluate variants
across the human genome for their possible association with risks for numerous diseases …

[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 …

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 …

A comparison of Cox and logistic regression for use in genome-wide association studies of cohort and case-cohort design

JR Staley, E Jones, S Kaptoge… - European Journal of …, 2017 - nature.com
Logistic regression is often used instead of Cox regression to analyse genome-wide
association studies (GWAS) of single-nucleotide polymorphisms (SNPs) and disease …