From basic science to clinical application of polygenic risk scores: a primer

NR Wray, T Lin, J Austin, JJ McGrath, IB Hickie… - JAMA …, 2021 - jamanetwork.com
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …

[PDF][PDF] Human demographic history impacts genetic risk prediction across diverse populations

AR Martin, CR Gignoux, RK Walters, GL Wojcik… - The American Journal of …, 2017 - cell.com
The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …

The potential of polygenic scores to improve cost and efficiency of clinical trials

AC Fahed, AA Philippakis, AV Khera - Nature communications, 2022 - nature.com
Polygenic scores can identify individuals with high disease risk based on inborn DNA
variation. We explore their potential to enrich clinical trials by identifying individuals based …

[PDF][PDF] Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort

F Privé, H Aschard, S Carmi, L Folkersen… - The American Journal of …, 2022 - cell.com
The low portability of polygenic scores (PGSs) across global populations is a major concern
that must be addressed before PGSs can be used for everyone in the clinic. Indeed …

Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study

IM Nolte, PJ Van Der Most, BZ Alizadeh… - European Journal of …, 2017 - nature.com
Despite the recent explosive rise in number of genetic markers for complex disease traits
identified in genome-wide association studies, there is still a large gap between the known …

PRSice: polygenic risk score software

J Euesden, CM Lewis, PF O'reilly - Bioinformatics, 2015 - academic.oup.com
A polygenic risk score (PRS) is a sum of trait-associated alleles across many genetic loci,
typically weighted by effect sizes estimated from a genome-wide association study. The …

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

AV Khera, M Chaffin, KG Aragam, ME Haas, C Roselli… - Nature …, 2018 - nature.com
A key public health need is to identify individuals at high risk for a given disease to enable
enhanced screening or preventive therapies. Because most common diseases have a …

What are polygenic scores and why are they important?

LP Sugrue, RS Desikan - Jama, 2019 - jamanetwork.com
Mendelian disorders and monogenic traits result from combinations of variants in 1 or a few
genes that have a large effect on the propensity for developing a certain disease or …

Validity of polygenic risk scores: are we measuring what we think we are?

ACJW Janssens - Human molecular genetics, 2019 - academic.oup.com
Polygenic risk scores (PRSs) have become the standard for quantifying genetic liability in
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …

Leveraging fine-mapping and non-European training data to improve cross-population polygenic risk scores

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - MedRxiv, 2021 - medrxiv.org
Polygenic risk scores (PRS) based on European training data suffer reduced accuracy in
non-European target populations, exacerbating health disparities. This loss of accuracy …