Jong Bhak

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.

GeroEngine reveals aging trajectories show bidirectional identity recovery and direction-specific inflammation, suggesting homeostatic restoration over inflammation suppression.

The paper presents a gapless, haplotype-resolved canine genome assembly for a Jindo dog, achieving high completeness and accuracy for the Y chromosome.

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.

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.

The paper identifies reactive CpGs and RNA expression changes in early COVID-19 using eQTM analysis, showing reversible molecular shifts linked to disease severity and recovery.

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

This study identifies independent genetic contributions of HLA missense variants and C4 copy number variations to SLE risk using a new East Asian MHC imputation panel.

This study develops a transcriptomic clock to predict age from whole blood and shows that physiological stress like COVID-19 can induce reversible age acceleration.

The paper sequenced the genome of the extinct Dokdo sea lion to clarify its evolutionary history and genetic diversity before extinction.

The paper presents a high-quality de novo genome assembly of the Asian Crested Ibis using long-read and Hi-C data, achieving a higher N50 and gene completeness compared to previous assemblies.

Korea4K presents whole-genome sequences of 4,157 Koreans with 107 health parameters, identifying new genotype-phenotype associations and improving imputation performance.

This study identifies 29 novel genetic loci associated with early-onset acute myocardial infarction through whole-genome sequencing of 1,239 Koreans.

The paper presents a chromosome-scale genome assembly for PGP1 using hybrid sequencing and Hi-C data, achieving high contiguity and accuracy.

This study identifies 15 novel microsatellite markers for conservation genetics and forensic analysis of big cats using genome-wide data mining.

The paper presents LT1, a high-quality human reference genome assembled using long-read and Hi-C data, and reports its genomic features and availability as a public resource.

The paper compares seven short-read sequencing platforms using the Korean Reference Genome, finding MGI platforms match Illumina in quality and cost-effectiveness.

The paper reports whole-genome sequences of nine Egyptian females with clinical data, identifying SNPs and mtDNA mutations associated with obesity and CPEO, and analyzing genetic admixture patterns.

The paper analyzes the whale shark genome to identify genetic features correlated with body size, metabolic rate, and lifespan, finding unique genomic traits in this species.

This study compares the cost-effectiveness and quality of chromosome-scale genome assemblies using PromethION and PacBio sequencing for the Korean reference genome KOREF, finding PromethION to be more cost-effective with comparable or better quality.

The paper reports genomes and transcriptomes of 20 bird species, including raptors, and identifies molecular signatures related to predatory and nocturnal adaptations.

The paper analyzes the genome and transcriptomes of jellyfish to identify genetic adaptations related to active predation and body plan development.

This paper presents the first genome assembly of the non-symbiotic octocoral Dendronephthya gigantea to aid in comparative genomic studies of cnidarians and explore genetic differences between soft and stony corals.

This study sequenced the genome of the long-tailed goral to analyze its genetic diversity, historical demography, and immune-related genes, finding low heterozygosity and signs of positive selection.

The paper constructs the KoVariome database, a comprehensive resource of genetic variations in Koreans, identifying novel SNVs, indels, CNVs, and SVs and highlighting their implications for disease.

This study performs whole genome sequencing of the red-crowned crane to identify genes associated with longevity and provides genetic evidence for low metabolic rate and conservation challenges.

The paper constructs an ethnically relevant Korean reference genome (KOREF) to improve variant detection in Korean populations and highlights the importance of ethnic-specific assemblies for genomic research.

This study sequences and analyzes the first genome of an early Neolithic woman from Iran, showing her population was genetically distinct from Neolithic Anatolians and had limited genetic contribution to modern Europeans.