Fig. 1: The origin of genomic variants in human cells and their characteristics.
From: Dissecting single-cell genomes through the clonal organoid technique
a The origin of genomic mutations together with the cellular phylogeny of an individual’s development. Four different origins (inherited, de novo, and embryonic and late stages) are represented. b The characteristics of genomic variants according to their origin. The mutation number per cell (x-axis) and the proportion of mutant cells in an individual’s body (y-axis) are illustrated. For postzygotic mutations, we assume that the endogenous mutation rate is 1 mutation per cell per cell doubling. The threshold of mutation detection (6.6% of the cell fraction) is calculated with 30-fold whole-genome sequencing. c The signal intensity of genomic variants in ordinary bulk-tissue whole-genome sequencing according to the origin of the genomic variants. WGS, whole-genome sequencing.
