Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing.

ABSTRACT: We present the bottleneck sequencing system (BotSeqS), a next-generation sequencing method that simultaneously quantifies rare somatic point mutations across the mitochondrial and nuclear genomes. BotSeqS combines molecular barcoding with a simple dilution step immediately before library amplification. We use BotSeqS to show age- and tissue-dependent accumulations of rare mutations and demonstrate that somatic mutational burden in normal human tissues can vary by several orders of magnitude, depending on biologic and environmental factors. We further show major differences between the mutational patterns of the mitochondrial and nuclear genomes in normal tissues. Lastly, the mutation spectra of normal tissues were different from each other, but similar to those of the cancers that arose in

SUBMITTER: Hoang ML 

PROVIDER: S-EPMC5024639 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature