A quantification method of somatic mutations in normal tissues and their accumulation in pediatric patients with chemotherapy.

ABSTRACT: Somatic mutations are accumulated in normal human tissues with aging and exposure to carcinogens. If we can accurately count any passenger mutations in any single DNA molecule, since their quantity is much larger than driver mutations, we can sensitively detect mutation accumulation in polyclonal normal tissues. Duplex sequencing, which tags both DNA strands in one DNA molecule, enables accurate count of such mutations, but requires a very large number of sequencing reads for each single sample of human-genome size. Here, we reduced the genome size to 1/90 using the BamHI restriction enzyme and established a cost-effective pipeline. The enzymatically cleaved and optimal sequencing (EcoSeq) method was able to count somatic mutations in a single DNA molecule with a sensitivity of as l

SUBMITTER: Ueda S 

PROVIDER: S-EPMC9351471 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature