Challenges and opportunities for developing 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 …

Implementation and implications for polygenic risk scores in healthcare

JL Slunecka, MD van der Zee, JJ Beck, BN Johnson… - Human genomics, 2021 - Springer
Increasing amounts of genetic data have led to the development of polygenic risk scores
(PRSs) for a variety of diseases. These scores, built from the summary statistics of genome …

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: 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 …

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 …

Polygenic scores in biomedical research

IJ Kullo, CM Lewis, M Inouye, AR Martin… - Nature Reviews …, 2022 - nature.com
Public health strategies aimed at disease prevention or early detection and intervention
have the potential to advance human health worldwide. However, their success depends on …

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 …

Improving reporting standards for polygenic scores in risk prediction studies

H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Nature Medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …

[PDF][PDF] Inclusion of variants discovered from diverse populations improves polygenic risk score transferability

TB Cavazos, JS Witte - Human Genetics and Genomics Advances, 2021 - cell.com
The majority of polygenic risk scores (PRSs) have been developed and optimized in
individuals of European ancestry and may have limited generalizability across other …