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

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.

SUBMITTER: Maslov AY

PROVIDER: S-EPMC8993124 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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

Maslov Alexander Y AY Makhortov Sergey S Sun Shixiang S Heid Johanna J Dong Xiao X Lee Moonsook M Vijg Jan J

Science advances 20220408 14

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-se ...[more]

PMID: 35394831

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