Bong-Jo Kim

The paper demonstrates that long-read sequencing detects more mitochondrial genome variants than short-read sequencing or microarrays in a Korean population.

This study profiles pharmacogenomic variants in 14,490 Koreans using a population-specific array, showing high concordance and highlighting ancestry-specific pharmacogenomic diversity.

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

This study identifies 113 genomic loci for SLE in East Asians, including 46 novel loci, and highlights non-immune cell-related biological mechanisms.