Fig. 1

Identification of mosaic mutations acquired during various developmental stages and adult life. a Ten thousand ninety-seven RNA-seq samples from 49 tissues and 570 individuals (GTEx consortium) were used to generate a 3D genotype array, which facilitated the identification of mosaic mutations and determination of their germ layer or organ of origin. b Definition of mosaic mutation types depending on the developmental stage during which they occur: early-embryonic mosaic mutations (EEMMs) occurring during the first few cell divisions of the zygote until implantation of the embryo, mid-embryonic mosaic mutations (MEMMs) acquired during gastrulation or neurulation (example in image: mutation in endoderm), late-embryonic mosaic mutations (LEMMs) acquired during early organogenesis, and somatic mutations acquired after birth. See also Additional file 4: Fig. S2 for the embryogenesis lineage tree used in the study