Blood and saliva-derived exomes from healthy Caucasian subjects do not display overt evidence of somatic mosaicism.
AID/APOBEC and ADAR deamination motifs
Blood-saliva concordance
Cytosine and adenosine deamination
Single nucleotide variation
Somatic mutation
Whole exome sequencing
Journal
Mutation research
ISSN: 1873-135X
Titre abrégé: Mutat Res
Pays: Netherlands
ID NLM: 0400763
Informations de publication
Date de publication:
Historique:
received:
29
02
2020
revised:
07
04
2020
accepted:
27
04
2020
pubmed:
23
6
2020
medline:
15
12
2020
entrez:
23
6
2020
Statut:
ppublish
Résumé
Somatic mosaicism is a normal occurrence during development in the tissues and organs. As part of establishing a "healthy population "(HP) background or base-line, we investigated whether such mosaicism can be routinely detected in the circulating DNA secured from a rigorously designed healthy human liquid biopsy clinical trial (saliva, blood). We deployed next generation (NG) whole exome sequencing (WES) at median exome coverage rates of 97.2 % (-to-30x) and 70.0 % (-to-100x). We found that somatic mosaicism is not detectable by such standard bulk WES sequencing assays in saliva and blood DNA in 24 normal healthy Caucasians of both sexes from 18 to 60 years of age. We conclude that for circulating DNA using standard WES no novel somatic mutational variants can be detected in protein-coding regions of normal healthy subjects. This implies that the extent within normal tissues of somatic mosaicism must be at a lower level, below the detection threshold, for these circulating DNA WES read depths.
Identifiants
pubmed: 32569906
pii: S0027-5107(20)30038-5
doi: 10.1016/j.mrfmmm.2020.111705
pii:
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
111705Informations de copyright
Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.