Jeong‐Sun Seo

The paper sequenced 3,135 Japanese individuals to identify genetic variants and construct a reference haplotype, highlighting the need for diverse population inclusion in genetic catalogs.

This study identifies novel genetic loci for coronary artery disease in Japanese and transethnic populations and develops a polygenic risk score that outperforms population-specific scores.

The paper introduces a whole-genome reference panel of 1,781 Northeast Asians, showing improved imputation accuracy for rare and low-frequency variants compared to existing panels.

The paper identifies a batch effect in 1000 Genomes Project data causing spurious mutation calls and affecting GWAS results, suggesting legacy data may need to be retired or upgraded.