Moonsook Lee

Single-cell analysis of the somatic mutational landscape in human chondrocytes during aging and in osteoarthritis

This study analyzes somatic mutations in chondrocytes from aging and osteoarthritis patients using single-cell whole genome sequencing, finding age-related mutation accumulation with a lower rate in OA chondrocytes.

Uniquely high spontaneous mutational load in blood cells of XP-C patients

The paper identifies a high spontaneous mutational load in PBMCs of XP-C patients, linked to specific mutation signatures and replication-dependent mutagenesis.

Chromosomal Aneuploidy in Normal, Non-Neuronal Brain Nuclei of Glioblastoma Patients is Not a Cancer Driver

The paper examines aneuploidy in non-neuronal brain nuclei of GBM patients and finds it is common in normal tissue and not associated with GBM risk.

Chimera-suppressing error-corrected sequencing enables quantitative detection of rare somatic structural-variant breakpoints in human cells

This paper introduces SMM-SV-seq, a method to detect rare somatic structural-variant breakpoints in bulk DNA with high precision and recall, validated using human and Drosophila DNA mixtures and clinical treatments.

Negative Selection Allows DNA Mismatch Repair-Deficient Mouse Fibroblasts In Vitro to Tolerate High Levels of Somatic Mutations

This study shows that DNA mismatch repair-deficient mouse fibroblasts can tolerate high mutation burdens in vitro without significant growth effects, revealing mutation-driven population changes and negative selection.

Evidence for negative selection against somatic mutations in fibroblasts with high N-ethyl-N-nitrosourea-induced mutation load

The paper shows that human fibroblasts undergo negative selection against harmful mutations, maintaining growth despite high mutation loads.

Analysis of somatic mutations in senescent cells using single-cell whole-genome sequencing

This study uses single-cell whole-genome sequencing to compare mutation burdens in early passage and deeply senescent human fibroblasts, finding increased single-nucleotide variations and aneuploidies in senescent cells.

Expression of retrotransposons contributes to aging in Drosophila

This study investigates the role of retrotransposon expression and insertions in aging using Drosophila, finding that expression, not insertion, is linked to longevity.

Single-cell whole-genome sequencing reveals mutational landscapes of DNA mismatch repair deficiency in mouse primary fibroblasts

This study uses single-cell whole-genome sequencing to analyze mutational landscapes in Msh2-deficient mouse fibroblasts, revealing elevated SNVs and INDELs with distinct mutational signatures.

Single-cell whole-genome sequencing reveals the functional landscape of somatic mutations in B lymphocytes across the human lifespan

This study uses single-cell whole-genome sequencing to analyze somatic mutations in B lymphocytes across the human lifespan, finding age-related mutation accumulation and potential cancer-related events.

Spontaneous retrotranspositions in normal tissues are rare and associated with cell-type-specific differentiation

The paper identifies rare spontaneous retrotranspositions in normal human tissues, showing cell-type-specific variation and association with differentiation processes.