[PDF][PDF] 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 …

Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification

Y Ding, K Hou, KS Burch, S Lapinska, F Privé… - Nature …, 2022 - nature.com
Although the cohort-level accuracy of polygenic risk scores (PRSs)—estimates of genetic
value at the individual level—has been widely assessed, uncertainty in PRSs remains …

Genetic risk scores

RP Igo Jr, TG Kinzy… - Current protocols in …, 2019 - Wiley Online Library
Genome‐wide variation data with millions of genetic markers have become commonplace.
However, the potential for interpretation and application of these data for clinical assessment …

Polygenic risk scores: a biased prediction?

FM De La Vega, CD Bustamante - Genome medicine, 2018 - Springer
A new study highlights the biases and inaccuracies of polygenic risk scores (PRS) when
predicting disease risk in individuals from populations other than those used in their …

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

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - Nature Genetics, 2022 - nature.com
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …

Prospects for using risk scores in polygenic medicine

CM Lewis, E Vassos - Genome medicine, 2017 - Springer
Editorial summary Genome-wide association studies have made strides in identifying
common variation associated with disease. The modest effect sizes preclude risk prediction …

Development of a clinical polygenic risk score assay and reporting workflow

L Hao, P Kraft, GF Berriz, ED Hynes, C Koch… - Nature medicine, 2022 - nature.com
Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but poses several challenges: the construction of clinically valid assays …

Current state and future of polygenic risk scores in cardiometabolic disease: a scoping review

JS Phulka, M Ashraf, BK Bajwa, G Pare… - Circulation: Genomic …, 2023 - Am Heart Assoc
A polygenic risk score (PRS) is derived from a genome-wide association study and
represents an aggregate of thousands of single-nucleotide polymorphisms that provide a …

[PDF][PDF] Addressing the challenges of polygenic scores in human genetic research

J Novembre, C Stein, S Asgari… - The American Journal of …, 2022 - cell.com
The genotyping of millions of human samples has made it possible to evaluate variants
across the human genome for their possible association with risks for numerous diseases …

Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization

ACF Lewis, EF Perez, AER Prince, HR Flaxman… - Genome Medicine, 2022 - Springer
Background Polygenic risk scores (PRS), which offer information about genomic risk for
common diseases, have been proposed for clinical implementation. The ways in which PRS …