Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing

Author:

Maslov Alexander Y.12ORCID,Makhortov Sergey3ORCID,Sun Shixiang1ORCID,Heid Johanna1ORCID,Dong Xiao14ORCID,Lee Moonsook1,Vijg Jan15ORCID

Affiliation:

1. Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

2. Laboratory of Applied Genomic Technologies, Voronezh State University of Engineering Technologies, Voronezh, Russia.

3. Department of Programming and Information Technology, Voronezh State University, Voronezh, Russia.

4. Institute on the Biology of Aging and Metabolism and Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN 55455, USA.

5. Center for Single-Cell Omics, School of Public Health, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.

Abstract

Postzygotic somatic mutations have been found associated with human disease, including diseases other than cancer. Most information on somatic mutations has come from studying clonally amplified mutant cells, based on a growth advantage or genetic drift. However, almost all somatic mutations are unique for each cell, and the quantitative analysis of these low-abundance mutations in normal tissues remains a major challenge in biology. Here, we introduce single-molecule mutation sequencing (SMM-seq), a novel approach for quantitative identification of point mutations in normal cells and tissues.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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