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 …

[HTML][HTML] 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 …

Validity of polygenic risk scores: are we measuring what we think we are?

ACJW Janssens - Human molecular genetics, 2019 - academic.oup.com
Polygenic risk scores (PRSs) have become the standard for quantifying genetic liability in
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …

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 …

The emerging field of polygenic risk scores and perspective for use in clinical care

T Yanes, AM McInerney-Leo, MH Law… - Human molecular …, 2020 - academic.oup.com
Genetic testing is used widely for diagnostic, carrier and predictive testing in monogenic
diseases. Until recently, there were no genetic testing options available for multifactorial …

Polygenic scores in biomedical research

IJ Kullo, CM Lewis, M Inouye, AR Martin… - Nature Reviews …, 2022 - nature.com
Public health strategies aimed at disease prevention or early detection and intervention
have the potential to advance human health worldwide. However, their success depends on …

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 …

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 …

Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

[HTML][HTML] Perspective: the clinical use of polygenic risk scores: race, ethnicity, and health disparities

MC Roberts, MJ Khoury, GA Mensah - Ethnicity & disease, 2019 - ncbi.nlm.nih.gov
Polygenic risk scores (PRS) are an emerging precision medicine tool based on multiple
gene variants that, taken alone, have weak associations with disease risks, but collectively …