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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-05-01
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Series: | Genome Medicine |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13073-020-00746-1 |