Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

Genetic prediction of complex traits with polygenic scores: a statistical review

Y Ma, X Zhou - Trends in Genetics, 2021 - cell.com
Accurate genetic prediction of complex traits can facilitate disease screening, improve early
intervention, and aid in the development of personalized medicine. Genetic prediction of …

A generalized linear mixed model association tool for biobank-scale data

L Jiang, Z Zheng, H Fang, J Yang - Nature genetics, 2021 - nature.com
Compared with linear mixed model-based genome-wide association (GWA) methods,
generalized linear mixed model (GLMM)-based methods have better statistical properties …

[HTML][HTML] Evaluation of polygenic prediction methodology within a reference-standardized framework

O Pain, KP Glanville, SP Hagenaars, S Selzam… - PLoS …, 2021 - journals.plos.org
The predictive utility of polygenic scores is increasing, and many polygenic scoring methods
are available, but it is unclear which method performs best. This study evaluates the …

[HTML][HTML] 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 …

[HTML][HTML] 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 …

[HTML][HTML] Clinical utility of polygenic risk scores: a critical 2023 appraisal

S Koch, J Schmidtke, M Krawczak… - Journal of Community …, 2023 - Springer
Since their first appearance in the context of schizophrenia and bipolar disorder in 2009,
polygenic risk scores (PRSs) have been described for a large number of common complex …

Research Review: A guide to computing and implementing polygenic scores in developmental research

AG Allegrini, JR Baldwin, W Barkhuizen… - Journal of Child …, 2022 - Wiley Online Library
The increasing availability of genotype data in longitudinal population‐and family‐based
samples provides opportunities for using polygenic scores (PGS) to study developmental …

[HTML][HTML] Polygenic risk scores: An overview from bench to bedside for personalised medicine

B Cross, R Turner, M Pirmohamed - Frontiers in Genetics, 2022 - frontiersin.org
Since the first polygenic risk score (PRS) in 2007, research in this area has progressed
significantly. The increasing number of SNPs that have been identified by large scale GWAS …

[HTML][HTML] Machine learning for prediction of schizophrenia using genetic and demographic factors in the UK biobank

M Bracher-Smith, E Rees, G Menzies, JTR Walters… - Schizophrenia …, 2022 - Elsevier
Abstract Machine learning (ML) holds promise for precision psychiatry, but its predictive
performance is unclear. We assessed whether ML provided added value over logistic …