Electronic health records and polygenic risk scores for predicting disease risk

R Li, Y Chen, MD Ritchie, JH Moore - Nature Reviews Genetics, 2020 - nature.com
Accurate prediction of disease risk based on the genetic make-up of an individual is
essential for effective prevention and personalized treatment. Nevertheless, to date …

Gene selection by incorporating genetic networks into case-control association studies

X Cao, X Liang, S Zhang, Q Sha - European Journal of Human Genetics, 2024 - nature.com
Large-scale genome-wide association studies (GWAS) have been successfully applied to a
wide range of genetic variants underlying complex diseases. The network-based regression …

TWAS-GKF: A Novel Method for Causal Gene Identification in Transcriptome-wide Association Studies with Knockoff Inference

A Wang, P Tian, YD Zhang - Bioinformatics, 2024 - academic.oup.com
Motivation Transcriptome-wide association study (TWAS) aims to identify trait-associated
genes regulated by significant variants to explore the underlying biological mechanisms at a …

SAT: a Surrogate-Assisted Two-wave case boosting sampling method, with application to EHR-based association studies

X Liu, J Chubak, RA Hubbard… - Journal of the American …, 2022 - academic.oup.com
Abstract Objectives Electronic health records (EHRs) enable investigation of the association
between phenotypes and risk factors. However, studies solely relying on potentially error …

A novel method for multiple phenotype association studies based on genotype and phenotype network

X Cao, S Zhang, Q Sha - PLoS Genetics, 2024 - journals.plos.org
Joint analysis of multiple correlated phenotypes for genome-wide association studies
(GWAS) can identify and interpret pleiotropic loci which are essential to understand …

[HTML][HTML] mixWAS: An efficient distributed algorithm for mixed-outcomes genome-wide association studies

R Li, L Benz, R Duan, JC Denny, H Hakonarson… - medRxiv, 2024 - ncbi.nlm.nih.gov
Genome-wide association studies (GWAS) have been instrumental in identifying genetic
associations for various diseases and traits. However, uncovering genetic underpinnings …

Gene-based association tests using GWAS summary statistics and incorporating eQTL

X Cao, X Wang, S Zhang, Q Sha - Scientific Reports, 2022 - nature.com
Although genome-wide association studies (GWAS) have been successfully applied to a
variety of complex diseases and identified many genetic variants underlying complex …

Statistical methods for gene selection and genetic association studies

X Cao - 2023 - search.proquest.com
Michigan Tech Dissertation Template Page 1 STATISTICAL METHODS FOR GENE SELECTION
AND GENETIC ASSOCIATION STUDIES By Xuewei Cao A DISSERTATION Submitted in partial …

Evaluation of phenotyping errors on polygenic risk score predictions

R Li, J Tong, R Duan, Y Chen, JH Moore - bioRxiv, 2019 - biorxiv.org
Accurate disease risk prediction is essential in healthcare to provide personalized disease
prevention and treatment strategies not only to the patients, but also to the general …

Gene-Based Association Tests Using GWAS Summary Statistics and Incorporating eQTL

X Cao, X Wang, S Zhang, Q Sha - 2021 - researchsquare.com
Although genome-wide association studies (GWAS) have been successfully applied to a
variety of complex diseases and identified many genetic variants underlying complex …