From basic science to clinical application of polygenic risk scores: a primer

NR Wray, T Lin, J Austin, JJ McGrath, IB Hickie… - JAMA …, 2021 - jamanetwork.com
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …

Summarizing polygenic risks for complex diseases in a clinical whole-genome report

SW Kong, IH Lee, I Leshchiner, J Krier, P Kraft… - Genetics in …, 2015 - nature.com
Purpose: Disease-causing mutations and pharmacogenomic variants are of primary interest
for clinical whole-genome sequencing. However, estimating genetic liability for common …

Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries

Y Liang, M Pividori, A Manichaikul, AA Palmer, NJ Cox… - Genome biology, 2022 - Springer
Background Polygenic risk scores (PRS) are valuable to translate the results of genome-
wide association studies (GWAS) into clinical practice. To date, most GWAS have been …

Understanding polygenic models, their development and the potential application of polygenic scores in healthcare

CB de Villiers, M Kroese, S Moorthie - Journal of medical genetics, 2020 - jmg.bmj.com
The use of genomic information to better understand and prevent common complex
diseases has been an ongoing goal of genetic research. Over the past few years, research …

Exploring the predictive power of polygenic scores derived from genome-wide association studies: a study of 10 complex traits

HC So, PC Sham - Bioinformatics, 2017 - academic.oup.com
Motivation It is hoped that advances in our knowledge in disease genomics will contribute to
personalized medicine such as individualized preventive strategies or early diagnoses of …

Polygenic risk scores in cardiovascular risk prediction: A cohort study and modelling analyses

L Sun, L Pennells, S Kaptoge, CP Nelson… - PLoS …, 2021 - journals.plos.org
Background Polygenic risk scores (PRSs) can stratify populations into cardiovascular
disease (CVD) risk groups. We aimed to quantify the potential advantage of adding …

Predictive utility of a validated polygenic risk score for long-term risk of coronary heart disease in young and middle-aged adults

SS Khan, C Page, DM Wojdyla, YY Schwartz… - Circulation, 2022 - Am Heart Assoc
Background: Understanding the predictive utility of previously derived polygenic risk scores
(PRSs) for long-term risk of coronary heart disease (CHD) and its additive value beyond …

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

AV Khera, M Chaffin, KG Aragam, ME Haas, C Roselli… - Nature …, 2018 - nature.com
A key public health need is to identify individuals at high risk for a given disease to enable
enhanced screening or preventive therapies. Because most common diseases have a …

Multiomic blood correlates of genetic risk identify presymptomatic disease alterations

M Wainberg, AT Magis, JC Earls… - Proceedings of the …, 2020 - National Acad Sciences
Transitions from health to disease are characterized by dysregulation of biological networks
under the influence of genetic and environmental factors, often over the course of years to …

Population bias in polygenic risk prediction models for coronary artery disease

D Gola, J Erdmann, K Läll, R Mägi… - Circulation: Genomic …, 2020 - Am Heart Assoc
Background: Individual risk prediction based on genome-wide polygenic risk scores (PRSs)
using millions of genetic variants has attracted much attention. It is under debate whether …