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 …

Will polygenic risk scores for cancer ever be clinically useful?

A Sud, C Turnbull, R Houlston - Npj Precision Oncology, 2021 - nature.com
Genome-wide association studies (GWAS) have identified associations between common
genetic variants, single nucleotide polymorphisms (SNPs) and the risk of developing …

Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues

ACF Lewis, RC Green - Genome Medicine, 2021 - Springer
Clinical use of polygenic risk scores (PRS) will look very different to the more familiar
monogenic testing. Here we argue that despite these differences, most of the ethical, legal …

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

N Mars, JT Koskela, P Ripatti, TTJ Kiiskinen… - Nature medicine, 2020 - nature.com
Polygenic risk scores (PRSs) have shown promise in predicting susceptibility to common
diseases,–. We estimated their added value in clinical risk prediction of five common …

[HTML][HTML] Current clinical use of polygenic scores will risk exacerbating health disparities

AR Martin, M Kanai, Y Kamatani, Y Okada… - Nature …, 2019 - ncbi.nlm.nih.gov
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …

Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …

Clinical use of current polygenic risk scores may exacerbate health disparities

AR Martin, M Kanai, Y Kamatani, Y Okada, BM Neale… - Nature …, 2019 - nature.com
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …

[PDF][PDF] Polygenic risk scores in the clinic: translating risk into action

ACF Lewis, RC Green, JL Vassy - Human Genetics and Genomics …, 2021 - cell.com
Polygenic risk scores (PRSs) are heralded as useful tools for risk stratification and
personalized preventive care, but they are clinically useful only if they can be translated into …

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 …

[PDF][PDF] Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

Y Wang, S Namba, E Lopera, S Kerminen, K Tsuo… - Cell Genomics, 2023 - cell.com
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However,
few studies have thoroughly investigated their best practices in global populations across …