Genomic landscape of cancer in racially and ethnically diverse populations

CE Thomas, U Peters - Nature Reviews Genetics, 2024 - nature.com
Cancer incidence and mortality rates can vary widely among different racial and ethnic
groups, attributed to a complex interplay of genetic, environmental and social factors …

Genotype× environment interactions in gene regulation and complex traits

C Boye, S Nirmalan, A Ranjbaran, F Luca - Nature Genetics, 2024 - nature.com
Genotype× environment interactions (GxE) have long been recognized as a key mechanism
underlying human phenotypic variation. Technological developments over the past 15 years …

Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases

B Truong, LE Hull, Y Ruan, QQ Huang, W Hornsby… - Cell Genomics, 2024 - cell.com
Polygenic risk scores (PRSs) are an emerging tool to predict the clinical phenotypes and
outcomes of individuals. We propose PRSmix, a framework that leverages the PRS corpus …

Causal interpretations of family GWAS in the presence of heterogeneous effects

C Veller, M Przeworski, G Coop - Proceedings of the National Academy of …, 2024 - pnas.org
Family-based genome-wide association studies (GWASs) are often claimed to provide an
unbiased estimate of the average causal effects (or average treatment effects; ATEs) of …

The PRIMED Consortium: Reducing disparities in polygenic risk assessment

IJ Kullo, MP Conomos, SC Nelson… - The American Journal of …, 2024 - cell.com
By improving disease risk prediction, polygenic risk scores (PRSs) could have a significant
impact on health promotion and disease prevention. Due to the historical oversampling of …

All of Us diversity and scale improve polygenic prediction contextually with greatest improvements for under-represented populations

K Tsuo, Z Shi, T Ge, R Mandla, K Hou, Y Ding… - BioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Recent studies have demonstrated that polygenic risk scores (PRS) trained on multi-
ancestry data can improve prediction accuracy in groups historically underrepresented in …

Genetic Prediction Modeling in Large Cohort Studies via Boosting Targeted Loss Functions

H Klinkhammer, C Staerk, C Maj… - Statistics in …, 2024 - Wiley Online Library
Polygenic risk scores (PRS) aim to predict a trait from genetic information, relying on
common genetic variants with low to medium effect sizes. As genotype data are high …

Population Performance and Individual Agreement of Coronary Artery Disease Polygenic Risk Scores

SA Abramowitz, K Boulier, K Keat, KM Cardone… - medRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Abstract Importance Polygenic risk scores (PRSs) for coronary artery disease (CAD) are a
growing clinical and commercial reality. Whether existing scores provide similar individual …

Dual exposure-by-polygenic score interactions highlight disparities across social groups in the proportion needed to benefit

S Nagpal, G Gibson - medRxiv, 2024 - pmc.ncbi.nlm.nih.gov
The transferability of polygenic scores across population groups is a major concern with
respect to the equitable clinical implementation of genomic medicine. Since genetic …

Correlation-based tests for the formal comparison of polygenic scores in multiple populations

S Gunn, KL Lunetta - Plos Genetics, 2024 - journals.plos.org
Polygenic scores (PGS) are measures of genetic risk, derived from the results of genome
wide association studies (GWAS). Previous work has proposed the coefficient of …