Alexander H. Li

The paper identifies SLC39A5 as a gene whose loss-of-function variants are associated with reduced type II diabetes risk and improved liver function in metabolic disorders.

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

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

The paper performs exome-wide association studies in large cohorts to identify genetic variants linked to human age, finding new candidates and confirming known ones.

Exomes of 49,960 UK Biobank participants reveal 231,631 predicted loss-of-function variants (>10-fold more than imputed data); burden tests implicate PIEZO1, MEPE, and COL6A1 in disease traits.