In‐Hee Lee

This study identifies sex-specific genetic associations with blood lipid levels using GWAS in the All of Us Research Program, highlighting five genes with differential effects between males and females.

The paper evaluates a deep learning model's performance in predicting pathogenicity of missense variants in a rare disease cohort and identifies limitations in its accuracy for intrinsically disordered regions.

The paper defines AI-readiness criteria for biomedical data, encompassing seven dimensions, and evaluates them across flagship datasets to ensure ethical and explainable AI practices.

WEScover assesses exome coverage for genes of interest and recommends gene panel testing when WES coverage is insufficient.