Young Seok Ju

The paper benchmarks sequencing methods to recover mosaic variants in human brain tissue and introduces RIVER to enhance variant detection across methods.

This study identifies glial progenitor cells as the cell-of-origin for IDH-mutant gliomas by analyzing patient tissues and mouse models.

The paper uses post-zygotic mutations to analyze clonal dynamics in monozygotic twins and finds three clonal categories correlated with amnionicity, not chorionicity.

This paper develops MethylInsight, a platform that adapts CNS tumor classification frameworks to whole-genome methylation data, achieving high accuracy comparable to array-based methods.

This study uses whole-genome sequencing and functional assays to improve genetic diagnosis of sensorineural hearing loss, achieving a 55.6% diagnostic yield through comprehensive genomic profiling.

This study shows APOBEC3A, not APOBEC3B, causes significant mutagenesis in human gastric epithelium through whole-genome sequencing of organoids with inducible APOBEC3A or APOBEC3B.

This study compares target-enhanced whole-genome sequencing (TE-WGS) with a commercial targeted panel, showing TE-WGS detects all variants and provides additional clinical insights.

This study evaluates the clinical utility of whole-genome sequencing in solid tumors, showing 72% of reports provided clinically relevant insights and 69% aided therapeutic decision-making.

The paper uses whole-genome sequencing to determine zygotic composition in chimeric twins, finding asymmetrical contributions from two zygotes in blood but not in buccal tissues.

This paper introduces RUN-DVC, a semi-supervised training method for deep variant callers that improves generalization across sequencing methods with varying error profiles.

The paper analyzes somatic L1 retrotranspositions in single-cell genomes from normal human tissues, finding high prevalence in colorectal cells and revealing epigenetic mechanisms driving retrotransposition.

ETCHING is an ultra-fast somatic structural variation caller that reduces mapping costs and false positives using pan-genome k-mer sets and a Random Forest classifier.

This study uses somatic mutations to reconstruct cellular phylogenetic trees and analyze clonal dynamics in early human embryogenesis.

The paper investigates the mutational impact of ionizing radiation on normal cells and confirms these signatures in IR-induced cancers.

This study develops a 3D culture model of human alveolar type 2 cells to study SARS-CoV-2 infection and reveals rapid viral replication and immune response.

The paper analyzes whole-genome sequencing data from cancer samples to identify genomic footprints of telomere maintenance mechanisms, finding specific telomere variant repeat patterns associated with ATRX/DAXX mutations.

The paper examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.

This study characterizes mitochondrial genomes in 2,700 cancer patients across 37 types using whole-genome sequencing and RNA-seq, revealing mutational patterns, truncating mutations, and nuclear transfer of mitochondrial DNA.

This study analyzes chromothripsis in 2,658 cancers using whole-genome sequencing, finding it prevalent across multiple cancer types with complex structural alterations.

The paper identifies noncoding de novo mutations contributing to autism spectrum disorder by altering chromatin interactions and gene expression in neural stem cells.

The paper analyzes somatic retrotransposition events in 2,954 cancer genomes, identifying L1 insertions as significant contributors to structural variations and oncogenesis.

The paper analyzes somatic rearrangements in cancer genomes using whole-genome sequencing data, identifying recurrent breakpoints and their genomic features.

The paper identifies multiple mutational signatures linked to tobacco smoking in cancer, reflecting both direct and indirect effects of tobacco smoke on DNA damage and mutation processes.