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

Alexander Y. Maslov, Sergey Makhortov, Shixiang Sun, Johanna Heid, Xiao Dong, Moonsook Lee, Jan Vijg

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article numberabm3259
JournalScience Advances
Volume8
Issue number14
DOIs
StatePublished - Apr 2022

ASJC Scopus subject areas

  • General

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