From basic science to clinical application of polygenic risk scores: a primer
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 …
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
Purpose: Disease-causing mutations and pharmacogenomic variants are of primary interest
for clinical whole-genome sequencing. However, estimating genetic liability for common …
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
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 …
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 …
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
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 …
personalized medicine such as individualized preventive strategies or early diagnoses of …
Polygenic risk scores in cardiovascular risk prediction: A cohort study and modelling analyses
Background Polygenic risk scores (PRSs) can stratify populations into cardiovascular
disease (CVD) risk groups. We aimed to quantify the potential advantage of adding …
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 …
(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
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 …
enhanced screening or preventive therapies. Because most common diseases have a …
Multiomic blood correlates of genetic risk identify presymptomatic disease alterations
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 …
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
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 …
using millions of genetic variants has attracted much attention. It is under debate whether …