[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 …

Improving reporting standards for polygenic scores in risk prediction studies

H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …

[PDF][PDF] Incorporating family history of disease improves polygenic risk scores in diverse populations

MLA Hujoel, PR Loh, BM Neale, AL Price - Cell genomics, 2022 - cell.com
Polygenic risk scores (PRSs) derived from genotype data and family history (FH) of disease
provide valuable information for predicting disease risk, but PRSs perform poorly when …

[HTML][HTML] Leveraging effect size distributions to improve polygenic risk scores derived from summary statistics of genome-wide association studies

S Song, W Jiang, L Hou, H Zhao - PLoS computational biology, 2020 - journals.plos.org
Genetic risk prediction is an important problem in human genetics, and accurate prediction
can facilitate disease prevention and treatment. Calculating polygenic risk score (PRS) has …

XPXP: improving polygenic prediction by cross-population and cross-phenotype analysis

J Xiao, M Cai, X Hu, X Wan, G Chen, C Yang - Bioinformatics, 2022 - academic.oup.com
Motivation As increasing sample sizes from genome-wide association studies (GWASs),
polygenic risk scores (PRSs) have shown great potential in personalized medicine with …

Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

[HTML][HTML] Polygenic risk scores: from research tools to clinical instruments

CM Lewis, E Vassos - Genome medicine, 2020 - Springer
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …

[HTML][HTML] Perspective: the clinical use of polygenic risk scores: race, ethnicity, and health disparities

MC Roberts, MJ Khoury, GA Mensah - Ethnicity & disease, 2019 - ncbi.nlm.nih.gov
Polygenic risk scores (PRS) are an emerging precision medicine tool based on multiple
gene variants that, taken alone, have weak associations with disease risks, but collectively …

[HTML][HTML] Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries

Y Liang, M Pividori, A Manichaikul, AA Palmer, NJ Cox… - Genome biology, 2022 - Springer
Background Polygenic risk scores (PRS) are valuable to translate the results of genome-
wide association studies (GWAS) into clinical practice. To date, most GWAS have been …

[HTML][HTML] Calculating polygenic risk scores (PRS) in UK Biobank: a practical guide for epidemiologists

JA Collister, X Liu, L Clifton - Frontiers in genetics, 2022 - frontiersin.org
A polygenic risk score estimates the genetic risk of an individual for some disease or trait,
calculated by aggregating the effect of many common variants associated with the condition …