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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.
Mutations in mtDNA contribute to mitochondrial disease and aging only if they rise in abundance. Here, the authors show that deleterious mutations reach high abundance by hitchhiking on genomes that have a replicative advantage.
Sinonasal squamous cell carcinoma (SNSCC) is an uncommon tumor, which has been associated with the human papillomavirus (HPV). Here the authors perform comprehensive genome-wide characterization of HPV-associated and HPV-independent SNSCC patient samples to reveal molecular patterns of tumorigenesis and identify HPV-driven mutational profiles.
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.
