Min‐Seok Kwon
A5102868427- Bioinformatics and Genomic Networks
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Advanced Proteomics Techniques and Applications
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Machine Learning in Bioinformatics
- Cancer Genomics and Diagnostics
- CRISPR and Genetic Engineering
- Single-cell and spatial transcriptomics
- Mass Spectrometry Techniques and Applications
- Metabolomics and Mass Spectrometry Studies
- Renal and related cancers
- Neuroscience and Music Perception
- Genomics and Phylogenetic Studies
- Genetic Mapping and Diversity in Plants and Animals
- Neural dynamics and brain function
- Hearing Loss and Rehabilitation
- Epigenetics and DNA Methylation
- Glycosylation and Glycoproteins Research
- DNA Repair Mechanisms
- Genetics and Neurodevelopmental Disorders
- Liver Disease Diagnosis and Treatment
- Evolution and Genetic Dynamics
- Advanced Drug Delivery Systems
Harvard University
2017-2024
Seoul National University
2010-2024
Harvard University Press
2023
Pohang Iron and Steel (South Korea)
2020
Purdue University West Lafayette
2011-2015
Victoria University of Wellington
2010
Yonsei University
2005-2009
Yonsei Proteome Research Center
2005-2009
Amorepacific (South Korea)
2006
It has long been hypothesized that aging and neurodegeneration are associated with somatic mutation in neurons; however, methodological hurdles have prevented testing this hypothesis directly. We used single-cell whole-genome sequencing to perform genome-wide single-nucleotide variant (sSNV) identification on DNA from 161 single neurons the prefrontal cortex hippocampus of 15 normal individuals (aged 4 months 82 years), as well 9 affected by early-onset due genetic disorders repair (Cockayne...
Mutations provide an enduring record Somatic mutations pepper our cells with change, but because they are not in the germline, do propagate to next generation. Bizzotto et al. leveraged data on distribution of somatic adults take a backward look at earliest moments human development. Calculation cellular lineages basis shared shows number from which body will develop when embryo gastrulates. The lineage for forebrain is identifiable, as asymmetrical fates spun out many gastrula cells....
We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 schizophrenia, and 59 autism) for somatic mutations after whole genome sequencing to a depth of more than 200×. Typically, had 20 60 detectable single-nucleotide mutations, but ~6% harbored hundreds mutations. Hypermutability was associated age damaging in genes implicated cancers and, some brains, reflected vivo clonal expansions. Somatic duplications, likely arising during development, were found ~5% normal...
Abstract When somatic cells acquire complex karyotypes, they often are removed by the immune system. Mutant that evade surveillance can lead to cancer. Neurons with karyotypes arise during neurotypical brain development, but neurons almost never origin of cancers. Instead, mutations in bring about neurodevelopmental disorders, and contribute polygenic landscape neuropsychiatric neurodegenerative disease. A subset human harbors idiosyncratic copy number variants (CNVs, “CNV neurons”),...
Abstract The data collected by Human Proteome Organization's Plasma Pilot project phase was analyzed members of our working group. Accordingly, a functional annotation the human plasma proteome carried out. Here, we report findings analyses. First, bioinformatic analyses were undertaken to determine likely sources proteins and develop protein interaction network identified in this project. Second, these performed context subproteomes involved coagulation pathway, mononuclear phagocytic...
Abstract Background Because common complex diseases are affected by multiple genes and environmental factors, it is essential to investigate gene-gene and/or gene-environment interactions understand genetic architecture of diseases. After the great success large scale genome-wide association (GWA) studies using high density single nucleotide polymorphism (SNP) chips, study interaction becomes a next challenge. Multifactor dimensionality reduction (MDR) analysis has been widely used for...
Abstract Reversible phosphorylation of proteins is the most common PTM in cell‐signaling pathways. Despite this, high‐throughput methods for systematic detection, identification, and quantification phosphorylated peptides have yet to be developed. In this paper, we describe establishment an efficient online titaniuim dioxide (TiO 2 )‐based 3‐D LC (strong cationic exchange/TiO /C18)‐MS 3 ‐linear ion trap system, which provides fully automatic highly identification sites complex peptide...
Abstract Motivation: For the past few decades, many statistical methods in genome-wide association studies (GWAS) have been developed to identify SNP–SNP interactions for case-control studies. However, there has less work prospective cohort studies, involving survival time. Recently, Gui et al. (2011) proposed a novel method, called Surv-MDR, detecting gene–gene associated with Surv-MDR is an extension of multifactor dimensionality reduction (MDR) method phenotype by using log-rank test...
With the development of high-throughput genotyping and sequencing technology, there are growing evidences association with genetic variants complex traits. In spite thousands discovered, such markers have been shown to explain only a very small proportion underlying variance Gene-gene interaction (GGI) analysis is expected unveil large portion unexplained heritability this work, we propose IGENT, Information theory-based GEnome-wide gene-gene iNTeraction method. IGENT an efficient algorithm...
Gene-gene interactions may play an important role in the genetics of a complex disease. Detection and characterization gene-gene is challenging issue that has stimulated development various statistical methods to address it. In this study, we introduce method measure gene using entropy-based statistics from contingency table trait genotype combinations. We also developed exploration procedure by graphs. propose standardized relative information gain (RIG) evaluate between single nucleotide...
The Asia Oceania Human Proteome Organisation (AOHUPO) has embarked on a Membrane Proteomics Initiative with goals of systematic comparison strategies for analysis membrane proteomes and discovery proteins. This multilaboratory project is based the subcellular fraction from mouse liver that contains endoplasmic reticulum other organelles. In this study, we present strategy used preparation initial characterization sample, including validation carbonate-washing step enriches integral...
Summary It has long been hypothesized that aging and neurodegeneration are associated with somatic mutation in neurons; however, methodological hurdles have prevented testing this hypothesis directly. We used single-cell whole-genome sequencing to perform genome-wide single-nucleotide variant (sSNV) identification on DNA from 161 single neurons the prefrontal cortex hippocampus of fifteen normal individuals (aged 4 months 82 years) as well nine affected by early-onset due genetic disorders...
Abstract Current proteome profiling techniques have identified relatively few mammalian membrane proteins despite their numerous important functions. To establish a standard throughput‐potential platform for proteins, Triton X‐100‐solubilized rat liver microsomal were separated on 2‐D separation system (2‐D liquid phase fractionation (PF2D)) in two different pH ranges (4.0–8.5 and 7.0–10.5). This produced 182 with more than transmembrane domain (TMD), including 16 TMDs high confidence....
Despite the improvement in variant detection algorithms, visual inspection of read-level data remains an essential step for accurate identification variants genome analysis. We developed BamSnap, efficient BAM file viewer utilizing a graphics library and indexing. In contrast to existing viewers, BamSnap can generate high-quality snapshots rapidly, with customized tracks layout. As example, we produced images at 1000 genomic loci >2500 whole-genomes.BamSnap is freely available...
Abstract Somatic mosaicism is defined as an occurrence of two or more populations cells having genomic sequences differing at given loci in individual who derived from a single zygote. It characteristic multicellular organisms that plays crucial role normal development and disease. To study the nature extent somatic autism spectrum disorder, bipolar focal cortical dysplasia, schizophrenia, Tourette syndrome, multi-institutional consortium called Brain Mosaicism Network (BSMN) was formed...
Background/Aim: Lung cancer remains a leading cause of cancer-related mortality worldwide, necessitating the development effective early diagnostic strategies. Despite advancements in imaging and screening technologies, late-stage diagnoses remain common, limiting treatment options reducing survival rates. Thus, there is critical need for reliable, minimally invasive biomarkers to improve detection patient outcomes. Plasma protein offer promising potential lung continuous disease monitoring....
Genome-wide association studies (GWAS) have extensively analyzed single SNP effects on a wide variety of common and complex diseases found many genetic variants associated with diseases. However, there is still large portion the left unexplained. This missing heritability problem might be due to analytical strategy that limits analyses only SNPs. One possible approaches consider identifying multi-SNP or gene-gene interactions. The multifactor dimensionality reduction method has been widely...