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The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues
[article]
2019
biorxiv/medrxiv
pre-print
Mosaic mutations acquired during early embryogenesis can lead to severe early-onset genetic disorders and cancer predisposition, but are often undetectable in blood samples. The rate and mutational spectrum of embryonic mosaic mutations (EMMs) have only been studied in few selected tissues and their contribution to genetic disorders is unknown. For this reason, we investigated how frequent mosaic mutations occur during embryogenesis across all germ layers and tissues. Using RNA sequencing
doi:10.1101/687822
fatcat:aj7kxdy4g5abhkrc5xfovlo5uq