The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.
Francesc MuyasLuis ZapataRoderic GuigóStephan OssowskiPublished in: Genome medicine (2020)
In summary, our multi-tissue, multi-individual study reveals a surprisingly high number of embryonic mosaic mutations in coding regions, implying novel hypotheses and diagnostic procedures for investigating genetic causes of disease and cancer predisposition.