Significance tests for R2 of out-of-sample prediction using polygenic scores
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 …
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
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 …
that must be addressed before PGSs can be used for everyone in the clinic. Indeed …
[PDF][PDF] Polygenic scores for UK Biobank scale data
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 …
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
Fields as diverse as human genetics and sociology are increasingly using polygenic scores
based on genome-wide association studies (GWAS) for phenotypic prediction. However …
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 …
utility increases for a range of health-related phenotypes. However, providing polygenic …
Heterogeneity in polygenic scores for common human traits
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 …
research. PGSs are a linear, usually weighted, combination of risk alleles that estimate the …
Calibrated prediction intervals for polygenic scores across diverse contexts
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 …
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
Polygenic scores (PGS) are important tools for carrying out genetic prediction of common
diseases and disease related complex traits, facilitating the development of precision …
diseases and disease related complex traits, facilitating the development of precision …
Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification
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 …
value at the individual level—has been widely assessed, uncertainty in PRSs remains …
Stability of polygenic scores across discovery genome-wide association studies
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 …
population level by the proportion of phenotypic variance they explain. To be useful for …