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Population-Scale DNA Sequencing Maps How Somatic Mutations Drive Aging and Cancer RiskLongevity & Aging

Population-Scale DNA Sequencing Maps How Somatic Mutations Drive Aging and Cancer Risk

Researchers at the Wellcome Sanger Institute developed an upgraded version of NanoSeq duplex sequencing with error rates below 5 errors per billion base pairs, now compatible with whole-exome and targeted capture. Applied to 1,042 oral epithelium and 371 blood samples from a twin cohort, the method detected over 62,000 driver mutations across 46 positively selected genes in oral tissue alone. The study also identified evidence of negative selection in essential genes and produced high-resolution mutation maps comparable to laboratory saturation mutagenesis. Multivariate models linked age, tobacco, and alcohol to altered somatic mutation acquisition and clonal selection, offering the first epidemiological-scale window into early carcinogenesis and the somatic mutation contribution to aging and disease.

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