Abstract
The advent of next generation sequencing (NGS) technology has provided the means to directly analyze the genetic material in primary cells or tissues of any species in a high throughput manner for mutagenic effects of potential genotoxic agents. In principle, direct, genome-wide sequencing of human primary cells and/or tissue biopsies would open up opportunities to identify individuals possibly exposed to mutagenic agents, thereby replacing current risk assessment procedures based on surrogate markers and extrapolations from animal studies. NGS-based tests can also precisely characterize the mutation spectra induced by genotoxic agents, improving our knowledge of their mechanism of action. Thus far, NGS has not been widely employed in genetic toxicology due to the difficulties in measuring low-abundant somatic mutations. Here, we review different strategies to employ NGS for the detection of somatic mutations in a cost-effective manner and discuss the potential applicability of these methods in testing the mutagenicity of genotoxic agents.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 136-143 |
| Number of pages | 8 |
| Journal | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis |
| Volume | 776 |
| DOIs | |
| State | Published - Jun 1 2015 |
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Keywords
- Genetic toxicology
- Genome rearrangement
- Mutagenicity
- Mutation
- Next generation sequencing
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Health, Toxicology and Mutagenesis
Cite this
High-throughput sequencing in mutation detection : A new generation of genotoxicity tests? / Maslov, Alexander; Quispe-Tintaya, Wilber; Gorbacheva, Tatyana; White, Ryan R.; Vijg, Jan.
In: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 776, 01.06.2015, p. 136-143.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - High-throughput sequencing in mutation detection
T2 - A new generation of genotoxicity tests?
AU - Maslov, Alexander
AU - Quispe-Tintaya, Wilber
AU - Gorbacheva, Tatyana
AU - White, Ryan R.
AU - Vijg, Jan
PY - 2015/6/1
Y1 - 2015/6/1
N2 - The advent of next generation sequencing (NGS) technology has provided the means to directly analyze the genetic material in primary cells or tissues of any species in a high throughput manner for mutagenic effects of potential genotoxic agents. In principle, direct, genome-wide sequencing of human primary cells and/or tissue biopsies would open up opportunities to identify individuals possibly exposed to mutagenic agents, thereby replacing current risk assessment procedures based on surrogate markers and extrapolations from animal studies. NGS-based tests can also precisely characterize the mutation spectra induced by genotoxic agents, improving our knowledge of their mechanism of action. Thus far, NGS has not been widely employed in genetic toxicology due to the difficulties in measuring low-abundant somatic mutations. Here, we review different strategies to employ NGS for the detection of somatic mutations in a cost-effective manner and discuss the potential applicability of these methods in testing the mutagenicity of genotoxic agents.
AB - The advent of next generation sequencing (NGS) technology has provided the means to directly analyze the genetic material in primary cells or tissues of any species in a high throughput manner for mutagenic effects of potential genotoxic agents. In principle, direct, genome-wide sequencing of human primary cells and/or tissue biopsies would open up opportunities to identify individuals possibly exposed to mutagenic agents, thereby replacing current risk assessment procedures based on surrogate markers and extrapolations from animal studies. NGS-based tests can also precisely characterize the mutation spectra induced by genotoxic agents, improving our knowledge of their mechanism of action. Thus far, NGS has not been widely employed in genetic toxicology due to the difficulties in measuring low-abundant somatic mutations. Here, we review different strategies to employ NGS for the detection of somatic mutations in a cost-effective manner and discuss the potential applicability of these methods in testing the mutagenicity of genotoxic agents.
KW - Genetic toxicology
KW - Genome rearrangement
KW - Mutagenicity
KW - Mutation
KW - Next generation sequencing
UR - http://www.scopus.com/inward/record.url?scp=84938749103&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84938749103&partnerID=8YFLogxK
U2 - 10.1016/j.mrfmmm.2015.03.014
DO - 10.1016/j.mrfmmm.2015.03.014
M3 - Article
C2 - 25934519
AN - SCOPUS:84938749103
VL - 776
SP - 136
EP - 143
JO - Mutation Research
JF - Mutation Research
SN - 0027-5107
ER -