Alexander Y. Maslov

This study shows that loss of metallothionein (MT) in cancer cells increases mutations by impairing DNA repair and causing metabolic imbalance.

This paper introduces BaySeq-Y, a Bayesian method to directly quantify mosaic loss of chromosome Y from sequencing data, showing improved accuracy over existing methods.

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.

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

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.

The paper analyzes RNA-seq data from Parkinson's Disease patients and controls to find increased somatic mutations in PD, with some clonal mutations being protective.

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.

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.

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

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.

The paper examines the association between clonal hematopoiesis and Parkinson's disease using whole exome sequencing data from controls and patients.

The paper shows that somatic mutation frequencies increase with age in human liver hepatocytes but are lower in liver stem cells and organoids.

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.

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.

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