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

Abstract 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 tissue...

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Bibliographic Details
Main Authors: Francesc Muyas, Luis Zapata, Roderic Guigó, Stephan Ossowski
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Genome Medicine
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13073-020-00746-1