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 tissues, and their contribution to genetic disorders is unknown. Therefore, we investigated how frequent mosaic mutations occur during embryogenesis across all germ layers and tissues.

Methods

Mosaic mutation detection in 49 normal tissues from 570 individuals (Genotype-Tissue Expression (GTEx) cohort) was performed using a newly developed multi-tissue, multi-individual variant calling approach for RNA-seq data. Our method allows for reliable identification of EMMs and the developmental stage du

SUBMITTER: Muyas F 

PROVIDER: S-EPMC7254727 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature