- Title
- Blood and saliva-derived exomes from healthy Caucasian subjects do not display overt evidence of somatic mosaicism
- Creator
- Hall, Nathan; Mamrot, Jared; Frampton, Chris; Read, Prue; Steele, Edward; Bischoff, Robert; Lindley, Robyn
- Date
- 2020
- Type
- Text; Journal article
- Identifier
- http://researchonline.federation.edu.au/vital/access/HandleResolver/1959.17/174324
- Identifier
- vital:14830
- Identifier
-
https://doi.org/10.1016/j.mrfmmm.2020.111705
- Identifier
- ISBN:0027-5107 (ISSN)
- Abstract
- 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. © 2020 The Author(s)
- Publisher
- Elsevier B.V.
- Relation
- Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis Vol. 821, no. (2020), p.
- Rights
- Metadata is freely available under a CCO license
- Rights
- https://creativecommons.org/licenses/by-nc-nd/4.0/
- Rights
- Copyright © 2020 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license
- Rights
- Open Access
- Subject
- 06 Biological Sciences; 07 Agricultural and Veterinary Sciences; 10 Technology; AID/APOBEC and ADAR deamination motifs; Blood-saliva concordance; Cytosine and adenosine deamination; Single nucleotide variation; Somatic mutation; Whole exome sequencing
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