The personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …

[HTML][HTML] Polygenic risk scores: from research tools to clinical instruments

CM Lewis, E Vassos - Genome medicine, 2020 - Springer
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …

[HTML][HTML] The illusion of polygenic disease risk prediction

NJ Wald, R Old - Genetics in Medicine, 2019 - Elsevier
A problem at the interface of genomic medicine and medical screening is that genetic
associations of etiological significance are often interpreted as having predictive …

[HTML][HTML] Polygenic risk scores: a biased prediction?

FM De La Vega, CD Bustamante - Genome medicine, 2018 - Springer
A new study highlights the biases and inaccuracies of polygenic risk scores (PRS) when
predicting disease risk in individuals from populations other than those used in their …

[HTML][HTML] The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

A Abu-El-Haija, HV Reddi, H Wand, NC Rose… - Genetics in …, 2023 - Elsevier
Polygenic inheritance is a non-Mendelian form of inheritance in which the risk of a trait,
disorder, or disease results from the combined contribution of variants from multiple genes …

Prediction of individual genetic risk of complex disease

NR Wray, ME Goddard, PM Visscher - Current opinion in genetics & …, 2008 - Elsevier
Most common diseases are caused by multiple genetic and environmental factors. In the last
2 years, genome-wide association studies (GWAS) have identified polymorphisms that are …

[HTML][HTML] Prospects for using risk scores in polygenic medicine

CM Lewis, E Vassos - Genome medicine, 2017 - Springer
Editorial summary Genome-wide association studies have made strides in identifying
common variation associated with disease. The modest effect sizes preclude risk prediction …

Beyond odds ratios—communicating disease risk based on genetic profiles

P Kraft, S Wacholder, MC Cornelis, FB Hu… - Nature Reviews …, 2009 - nature.com
The brisk discovery of novel inherited disease markers by genome-wide association (GWA)
studies has raised expectations for predicting disease risk by analysing multiple common …

Developing and evaluating polygenic risk prediction models for stratified disease prevention

N Chatterjee, J Shi, M García-Closas - Nature Reviews Genetics, 2016 - nature.com
Abstract Knowledge of genetics and its implications for human health is rapidly evolving in
accordance with recent events, such as discoveries of large numbers of disease …

Genetic risk scores

RP Igo Jr, TG Kinzy… - Current protocols in …, 2019 - Wiley Online Library
Genome‐wide variation data with millions of genetic markers have become commonplace.
However, the potential for interpretation and application of these data for clinical assessment …