Significance tests for R2 of out-of-sample prediction using polygenic scores

MM Momin, S Lee, NR Wray, SH Lee - The American Journal of Human …, 2023 - cell.com
The coefficient of determination (R 2) is a well-established measure to indicate the predictive
ability of polygenic scores (PGSs). However, the sampling variance of R 2 is rarely …

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 …

[PDF][PDF] Polygenic scores for UK Biobank scale data

TSH Mak, RM Porsch, SW Choi, PC Sham - BioRxiv, 2018 - pdfs.semanticscholar.org
Polygenic scores (PGS) are estimated scores representing the genetic tendency of an
individual for a 2 disease or trait and have become an indispensible tool in a variety of …

Variable prediction accuracy of polygenic scores within an ancestry group

H Mostafavi, A Harpak, I Agarwal, D Conley… - elife, 2020 - elifesciences.org
Fields as diverse as human genetics and sociology are increasingly using polygenic scores
based on genome-wide association studies (GWAS) for phenotypic prediction. However …

A tool for translating polygenic scores onto the absolute scale using summary statistics

O Pain, AC Gillett, JC Austin, L Folkersen… - European Journal of …, 2022 - nature.com
There is growing interest in the clinical application of polygenic scores as their predictive
utility increases for a range of health-related phenotypes. However, providing polygenic …

Heterogeneity in polygenic scores for common human traits

EB Ware, LL Schmitz, J Faul, A Gard, C Mitchell… - BioRxiv, 2017 - biorxiv.org
This study investigates the creation of polygenic scores (PGS) s for human population
research. PGSs are a linear, usually weighted, combination of risk alleles that estimate the …

Calibrated prediction intervals for polygenic scores across diverse contexts

K Hou, Z Xu, Y Ding, R Mandla, Z Shi, K Boulier… - Nature Genetics, 2024 - nature.com
Polygenic scores (PGS) have emerged as the tool of choice for genomic prediction in a wide
range of fields. We show that PGS performance varies broadly across contexts and …

PGS-server: accuracy, robustness and transferability of polygenic score methods for biobank scale studies

S Yang, X Zhou - Briefings in Bioinformatics, 2022 - academic.oup.com
Polygenic scores (PGS) are important tools for carrying out genetic prediction of common
diseases and disease related complex traits, facilitating the development of precision …

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 …

Stability of polygenic scores across discovery genome-wide association studies

LM Schultz, AK Merikangas, K Ruparel… - Human Genetics and …, 2022 - cell.com
Polygenic scores (PGS) are commonly evaluated in terms of their predictive accuracy at the
population level by the proportion of phenotypic variance they explain. To be useful for …