Somatic mutation and selection at population scale.

ABSTRACT: As we age, many tissues become colonized by microscopic clones carrying somatic driver mutations^1-7. Some of these clones represent a first step towards cancer whereas others may contribute to ageing and other diseases. However, our understanding of this phenomenon remains limited due to the challenge of detecting mutations in small clones. Here we introduce a new version of nanorate sequencing (NanoSeq)⁸, a duplex sequencing method with an error rate lower than five errors per billion base pairs, which is compatible with whole-exome and targeted capture. Deep sequencing of polyclonal samples with single-molecule sensitivity simultaneously profiles large numbers of clones, providing accurate mutation rates, signatures and driver frequencies in any tissue. Applying tar

SUBMITTER: Lawson ARJ 

PROVIDER: S-EPMC12611758 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature