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A mutation is any detectable and heritable change in nucleotide sequence that causes a change in genotype and is transmitted to daughter cells and succeeding generations.
Acetaldehyde treatment and whole genome sequencing of human cells reveal no increased base substitution mutagenesis but an induction of structural genomic alterations mirrored by the association of similar events with alcohol consumption in cancer.
Samira Musah highlights a recent study by Ward et al., who generated isogenic human induced pluripotent stem cell lines to analyse the transcriptional and epigenetic effects of SMAD2 variants identified in patients with congenital heart disease.
This Genome Watch discusses recent findings in bacterial mutational hotspots, their impact on pathogenesis and antimicrobial resistance, and how we can harness this knowledge to predict pathogen evolution.
In this Tool of the Trade article, Tim Coorens describes the development of SComatic, an algorithm enabling the detection of somatic mutations in single-cell RNA- or ATAC-sequencing data, and its use to study lineage relations and mutational signatures.
Estimating age in clonal populations is exceedingly challenging, but a study proposes a molecular clock based on genome-wide fixed somatic variations as a solution.
