Jie Na

This study evaluates polygenic risk scores (PRS) for ASCVD subtypes across diverse ancestry groups, finding that multi-ancestry and multi-trait PRS perform best, with CHD and AAA scores outperforming IS and PAD.

The paper assesses the joint impact of polygenic risk and social determinants of health on coronary heart disease in the US using the All of Us dataset.

The paper functionally characterizes BRCA2 variants using saturation genome editing and classifies them clinically, finding functionally abnormal variants are associated with increased cancer risk.

This paper improves coverage profile correction in shallow-depth ccfDNA WGS using multi-distance learning, reducing variability and improving trisomy screening performance.