Jinbo Chen

This paper evaluates adding polygenic risk scores to the RECODe model for predicting cardiovascular outcomes in type 2 diabetes patients, finding no significant improvement in predictive performance.

The paper extends Mendelian risk prediction models to incorporate variant-specific penetrances, improving cancer risk predictions for BRCA1/2 pathogenic variants.

This study identifies robust gene-phenotype associations by analyzing rare loss-of-function variants in exome-wide data linked to electronic health records.