Dong-Hyun Shin

A Korean pangenome reference of 14 healthy individuals supports structural variant analysis in disease genomes

The paper constructs a Korean pangenome reference (K-PanRef) from 14 healthy individuals and demonstrates its utility in identifying disease-relevant structural variants in early-onset myocardial infarction samples.

10,239 whole genomes with multiomic and clinical health information as the Korean Multiomics Reference dataset

The paper introduces Korea10K, a large genomic dataset of 10,239 Korean genomes with multiomic and clinical data, enabling population-specific variant imputation and insights into genomic-epigenomic regulation.

Telomere-to-Telomere Accurate and Gapless Korean Standard Reference Genome

The paper presents KOREF1-G-TTAGGA, a high-quality telomere-to-telomere Korean reference genome with haplotype-resolved sequences and multi-omic data for precision medicine.

Identification of 17 novel epigenetic biomarkers associated with anxiety disorders using differential methylation analysis followed by machine learning-based validation

The paper identifies 17 novel DNA methylation biomarkers for anxiety disorders through differential methylation analysis and validates them using machine learning models.