Polygenic risk scores applied to a single cohort reveal pleiotropy among hundreds of human phenotypes

A Socrates, T Bond, V Karhunen, J Auvinen… - BioRxiv, 2017 - biorxiv.org
Background There is now convincing evidence that pleiotropy across the genome
contributes to the correlation between human traits and comorbidity of diseases. The recent …

[PDF][PDF] Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction

O Bocher, A Gilly, YC Park, E Zeggini… - Human Genetics and …, 2023 - cell.com
Genetic prediction of common complex disease risk is an essential component of precision
medicine. Currently, genome-wide association studies (GWASs) are mostly composed of …

Efficient polygenic risk scores for biobank scale data by exploiting phenotypes from inferred relatives

B Truong, X Zhou, J Shin, J Li, JHJ Van Der Werf… - Nature …, 2020 - nature.com
Polygenic risk scores are emerging as a potentially powerful tool to predict future
phenotypes of target individuals, typically using unrelated individuals, thereby devaluing …

Improving genetic risk prediction by leveraging pleiotropy

C Li, C Yang, J Gelernter, H Zhao - Human genetics, 2014 - Springer
An important task of human genetics studies is to predict accurately disease risks in
individuals based on genetic markers, which allows for identifying individuals at high …

[PDF][PDF] Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

Y Wang, S Namba, E Lopera, S Kerminen, K Tsuo… - Cell Genomics, 2023 - cell.com
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However,
few studies have thoroughly investigated their best practices in global populations across …

Leveraging functional genomic annotations and genome coverage to improve polygenic prediction of complex traits within and between ancestries

Z Zheng, S Liu, J Sidorenko, Y Wang, T Lin, L Yengo… - Nature Genetics, 2024 - nature.com
We develop a method, SBayesRC, that integrates genome-wide association study (GWAS)
summary statistics with functional genomic annotations to improve polygenic prediction of …

[PDF][PDF] Non-parametric polygenic risk prediction via partitioned GWAS summary statistics

S Chun, M Imakaev, D Hui, NA Patsopoulos… - The American Journal of …, 2020 - cell.com
In complex trait genetics, the ability to predict phenotype from genotype is the ultimate
measure of our understanding of genetic architecture underlying the heritability of a trait. A …

Interactions between enhanced polygenic risk scores and lifestyle for cardiovascular disease, diabetes, and lipid levels

Y Ye, X Chen, J Han, W Jiang… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: Both lifestyle and genetic factors confer risk for cardiovascular diseases, type 2
diabetes, and dyslipidemia. However, the interactions between these 2 groups of risk factors …

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 …

Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction

J Sun, Y Wang, L Folkersen, Y Borné, I Amlien… - Nature …, 2021 - nature.com
A promise of genomics in precision medicine is to provide individualized genetic risk
predictions. Polygenic risk scores (PRS), computed by aggregating effects from many …