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The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues

27 May 2020

Abstract excerpt

BACKGROUND: 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 tissues, and their contribution to genetic disorders is unknown. Therefore, we investigated how frequent mosaic mutations occur...

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PMID: 32460841
DOI: 10.1186/s13073-020-00746-1

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