Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

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 …

Improving polygenic prediction in ancestrally diverse populations

Y Ruan, YF Lin, YCA Feng, CY Chen, M Lam, Z Guo… - Nature …, 2022 - nature.com
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …

Heart-brain connections: Phenotypic and genetic insights from magnetic resonance images

B Zhao, T Li, Z Fan, Y Yang, J Shu, X Yang, X Wang… - Science, 2023 - science.org
Cardiovascular health interacts with cognitive and mental health in complex ways, yet little is
known about the phenotypic and genetic links of heart-brain systems. We quantified heart …

LDpred2: better, faster, stronger

F Privé, J Arbel, BJ Vilhjálmsson - Bioinformatics, 2020 - academic.oup.com
Motivation Polygenic scores have become a central tool in human genetics research.
LDpred is a popular method for deriving polygenic scores based on summary statistics and …

PRSice-2: Polygenic Risk Score software for biobank-scale data

SW Choi, PF O'Reilly - Gigascience, 2019 - academic.oup.com
Background Polygenic risk score (PRS) analyses have become an integral part of
biomedical research, exploited to gain insights into shared aetiology among traits, to control …

Fine-map** from summary data with the “Sum of Single Effects” model

Y Zou, P Carbonetto, G Wang, M Stephens - PLoS genetics, 2022 - journals.plos.org
In recent work, Wang et al introduced the “Sum of Single Effects”(SuSiE) model, and showed
that it provides a simple and efficient approach to fine-map** genetic variants from …

Challenges and opportunities for develo** more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

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 …

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 …