Combined utility of 25 disease and risk factor polygenic risk scores for stratifying risk of all-cause mortality

A Meisner, P Kundu, YD Zhang, LV Lan, S Kim… - The American Journal of …, 2020 - cell.com
While genome-wide association studies have identified susceptibility variants for numerous
traits, their combined utility for predicting broad measures of health, such as mortality …

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 …

Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association

JW O'Sullivan, S Raghavan, C Marquez-Luna… - Circulation, 2022 - Am Heart Assoc
Cardiovascular disease is the leading contributor to years lost due to disability or premature
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …

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 …

[HTML][HTML] Returning integrated genomic risk and clinical recommendations: The eMERGE study

JE Linder, A Allworth, HT Bland, PJ Caraballo… - Genetics in …, 2023 - Elsevier
Purpose Assessing the risk of common, complex diseases requires consideration of clinical
risk factors as well as monogenic and polygenic risks, which in turn may be reflected in …

Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease

JK Dennis, JM Sealock, P Straub, YH Lee, D Hucks… - Genome medicine, 2021 - Springer
Background Clinical laboratory (lab) tests are used in clinical practice to diagnose, treat, and
monitor disease conditions. Test results are stored in electronic health records (EHRs), and …

Polygenic risk scores for the prediction of cardiometabolic disease

JW O'Sullivan, EA Ashley, PM Elliott - European Heart Journal, 2023 - academic.oup.com
Cardiometabolic diseases contribute more to global morbidity and mortality than any other
group of disorders. Polygenic risk scores (PRSs), the weighted summation of individually …

Statistical genetics and polygenic risk score for precision medicine

T Konuma, Y Okada - Inflammation and regeneration, 2021 - Springer
The prediction of disease risks is an essential part of personalized medicine, which includes
early disease detection, prevention, and intervention. The polygenic risk score (PRS) has …

Genotype imputation and variability in polygenic risk score estimation

SF Chen, R Dias, D Evans, EL Salfati, S Liu… - Genome medicine, 2020 - Springer
Abstract Background Polygenic risk scores (PRSs) are a summarization of an individual's
genetic risk for a disease or trait. These scores are being generated in research and …

Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments

GB Busby, S Kulm, A Bolli, J Kintzle… - Nature …, 2023 - nature.com
Clinical implementation of new prediction models requires evaluation of their utility in a
broad range of intended use populations. Here we develop and validate ancestry-specific …