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Published on: March 29, 2017
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Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing
Alexander Y Maslov1,2, Sergey Makhortov3, Shixiang Sun1
1Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Science Advances
|April 8, 2022
Summary
Postzygotic somatic mutations are linked to human diseases beyond cancer. A new method, single-molecule mutation sequencing (SMM-seq), enables the quantitative analysis of unique, low-abundance mutations in normal cells and tissues.
Area of Science:
- Genetics
- Molecular Biology
- Genomic Medicine
Background:
- Postzygotic somatic mutations are implicated in various human diseases, not exclusively cancer.
- Current understanding relies on studying clonally amplified cells, which may not represent the full spectrum of mutations.
- Analyzing low-abundance, unique somatic mutations in normal tissues presents a significant technical challenge.
Purpose of the Study:
- To introduce a novel method for the quantitative identification of point mutations.
- To enable the analysis of unique, low-abundance somatic mutations in normal cells and tissues.
Main Methods:
- Development of single-molecule mutation sequencing (SMM-seq).
- Application of SMM-seq for quantitative mutation detection at the single-cell level.
Main Results:
- SMM-seq provides a novel approach for mutation detection.
- The method facilitates the quantitative analysis of low-abundance somatic mutations.
Conclusions:
- SMM-seq addresses a major challenge in analyzing somatic mutations.
- This technique has potential applications in understanding human disease pathogenesis beyond cancer.
