Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.

ABSTRACT: Most somatic mutations that arise during normal development are present at low levels in single or multiple tissues depending on the developmental stage and affected organs. However, the effect of human developmental stages or mutations of different organs on the features of somatic mutations is still unclear. Here, we performed a systemic and comprehensive analysis of low-level somatic mutations using deep whole-exome sequencing (average read depth ~500×) of 498 multiple organ tissues with matched controls from 190 individuals. Our results showed that early clone-forming mutations shared between multiple organs were lower in number but showed higher allele frequencies than late clone-forming mutations [0.54 vs. 5.83 variants per individual; 6.17% vs. 1.5% variant allele frequency (VAF)] a

SUBMITTER: Kim JH 

PROVIDER: S-EPMC9560606 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature