The clock-like accumulation of germline and somatic mutations can arise from the interplay of DNA damage and repair
Natanael Spisak,
Marc de Manuel,
William Milligan
et al.
Abstract:The rates at which mutations accumulate across human cell types vary. To identify causes of this variation, mutations are often decomposed into a combination of the single-base substitution (SBS) “signatures” observed in germline, soma, and tumors, with the idea that each signature corresponds to one or a small number of underlying mutagenic processes. Two such signatures turn out to be ubiquitous across cell types: SBS signature 1, which consists primarily of transitions at methylated CpG sites thought to be … Show more
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