Semin Lee

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.

Comprehensive Whole Genome Sequencing Reveals Origins of Mutational Signatures Associated with Aging and Temozolomide Chemotherapy

The paper analyzes whole-genome sequencing data from DNA repair-deficient cell lines to identify mutational signatures linked to aging and temozolomide chemotherapy.

Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups

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

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

Somatic mosaicism in the mature brain reveals clonal cellular distributions during cortical development

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

The whale shark genome reveals how genomic and physiological properties scale with body size

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.

Chromosome-scale assembly comparison of the Korean Reference Genome KOREF from PromethION and PacBio with Hi-C mapping information

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.

Genomic perspectives on adaptation and conservation in the endangered long-tailed goral (Naemorhedus caudatus).

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.

KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses

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.

Ethnically relevant consensus Korean reference genome towards personal reference genomes

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.