Recent advances in polygenic scores: translation, equitability, methods and FAIR tools

R Xiang, M Kelemen, Y Xu, LW Harris, H Parkinson… - Genome Medicine, 2024 - Springer
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals' genetic
predisposition to disease, and many potentially clinically useful applications have been …

Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

Improving reporting standards for polygenic scores in risk prediction studies

H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …

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 …

[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 …

Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: a practice resource from the national society of …

H Wand, SS Kalia, BM Helm, SA Suckiel… - Journal of genetic …, 2023 - Wiley Online Library
Polygenic scores (PGS) are primed for use in personalized risk assessments for common,
complex conditions and population health screening. Although there is growing evidence …

[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 …

Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring

E Petter, Y Ding, K Hou, A Bhattacharya… - The American Journal of …, 2023 - cell.com
Polygenic scores (PGSs) have emerged as a standard approach to predict phenotypes from
genotype data in a wide array of applications from socio-genomics to personalized …

Implementation and implications for polygenic risk scores in healthcare

JL Slunecka, MD van der Zee, JJ Beck, BN Johnson… - Human genomics, 2021 - Springer
Increasing amounts of genetic data have led to the development of polygenic risk scores
(PRSs) for a variety of diseases. These scores, built from the summary statistics of genome …

PGS-server: accuracy, robustness and transferability of polygenic score methods for biobank scale studies

S Yang, X Zhou - Briefings in Bioinformatics, 2022 - academic.oup.com
Polygenic scores (PGS) are important tools for carrying out genetic prediction of common
diseases and disease related complex traits, facilitating the development of precision …