Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases

B Truong, LE Hull, Y Ruan, QQ Huang, W Hornsby… - Cell Genomics, 2024 - cell.com
Polygenic risk scores (PRSs) are an emerging tool to predict the clinical phenotypes and
outcomes of individuals. We propose PRSmix, a framework that leverages the PRS corpus …

A polygenic risk score for Alzheimer's disease constructed using APOE-region variants has stronger association than APOE alleles with mild cognitive impairment in …

T Sofer, N Kurniansyah, E Granot-Hershkovitz… - Alzheimer's Research & …, 2023 - Springer
Abstract Introduction Polygenic Risk Scores (PRSs) are summaries of genetic risk alleles for
an outcome. Methods We used summary statistics from five GWASs of AD to construct PRSs …

[PDF][PDF] Power of inclusion: Enhancing polygenic prediction with admixed individuals

Y Tanigawa, M Kellis - The American Journal of Human Genetics, 2023 - cell.com
Admixed individuals offer unique opportunities for addressing limited transferability in
polygenic scores (PGSs), given the substantial trans-ancestry genetic correlation in many …

Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction

H Jung, HU Jung, EJ Baek, SY Kwon, JO Kang… - Communications …, 2024 - nature.com
Polygenic risk score (PRS) is useful for capturing an individual's genetic susceptibility.
However, previous studies have not fully exploited the potential of the risk factor PRS …

Haplotype Function Score improves biological interpretation and cross-ancestry polygenic prediction of human complex traits

W Song, Y Shi, GN Lin - Elife, 2024 - elifesciences.org
We propose a new framework for human genetic association studies: at each locus, a deep
learning model (in this study, Sei) is used to calculate the functional genomic activity score …

Correlation-based tests for the formal comparison of polygenic scores in multiple populations

S Gunn, KL Lunetta - Plos Genetics, 2024 - journals.plos.org
Polygenic scores (PGS) are measures of genetic risk, derived from the results of genome
wide association studies (GWAS). Previous work has proposed the coefficient of …

Cross-ancestry genetic architecture and prediction for cholesterol traits

MM Momin, X Zhou, E Hyppönen, B Benyamin, SH Lee - Human Genetics, 2024 - Springer
While cholesterol is essential, a high level of cholesterol is associated with the risk of
cardiovascular diseases. Genome-wide association studies (GWASs) have proven …

Generalizability of polygenic prediction models: how is the R2 defined on test data?

C Staerk, H Klinkhammer, T Wistuba, C Maj… - BMC Medical …, 2024 - Springer
Background Polygenic risk scores (PRS) quantify an individual's genetic predisposition for
different traits and are expected to play an increasingly important role in personalized …

[HTML][HTML] Fine-mapping genomic loci refines bipolar disorder risk genes

M Koromina, A Ravi, G Panagiotaropoulou… - medRxiv, 2024 - ncbi.nlm.nih.gov
Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest
published genome-wide association study identified 64 BD risk loci, the causal SNPs and …

[HTML][HTML] Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction

R Xiang, Y Liu, S Ritchie, SA Lambert, Y Xu… - medRxiv, 2024 - ncbi.nlm.nih.gov
Blood cell phenotypes are routinely tested in healthcare to inform clinical decisions. Genetic
variants influencing mean blood cell phenotypes have been used to understand disease …