Single-molecule, Quantitative Detection of Low-abundance Somatic Mutations by High-throughput Sequencing

Overview

Journal Sci Adv

Specialties Biology
Science

Date 2022 Apr 8

PMID 35394831

Authors

Alexander Y Maslov

Sergey Makhortov

Shixiang Sun

Johanna Heid

Xiao Dong

Moonsook Lee

Jan Vijg

Affiliations

Soon will be listed here.

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.

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