Ruoyi Cai

This paper develops an in silico framework to evaluate the impact of polygenic risk score (PRS)-guided prognostic enrichment on clinical trial design using genomic and electronic health record data.

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

The paper introduces an IBD mapping method with multiple testing adjustment to associate genome-wide loci with complex traits, showing improved power for rare variants.

The paper estimates genome-wide mutation rates from population data using IBD segments, finding consistent rates across three populations.

The paper estimates X chromosome effective population size using IBD segments and applies it to infer sex-specific demographic history from UK Biobank data.