A high-fidelity method for genomic sequencing of single somatic cells reveals a very high mutational burden

Jan Vijg, Xiao Dong, Lei Zhang

Research output: Contribution to journalReview article

1 Scopus citations

Abstract

Postzygotic mutations in somatic cells lead to genome mosaicism and can be the cause of cancer, possibly other human diseases and aging. Somatic mutations are difficult to detect in bulk tissue samples. Here, we review the available assays for measuring somatic mutations, with a focus on recent single-cell, whole genome sequencing methods. Impact statement: Somatic mutations cause cancer, possibly other diseases and aging. Yet, very little is known about the frequency of such mutations in vivo, their distribution across the genome, and their possible functional consequences other than cancer. Even in cancer, we do not know the heterogeneity of mutations within a tumor and if seemingly normal cells in its surroundings already have elevated mutation frequencies. Here, we review a new, whole genome amplification system that allows accurate quantification and characterization of single-cell mutational landscapes in human cells and tissues in relation to disease.

Original languageEnglish (US)
Pages (from-to)1318-1324
Number of pages7
JournalExperimental Biology and Medicine
Volume242
Issue number13
DOIs
StatePublished - Jul 1 2017

Keywords

  • Aging
  • cancer
  • genomic features
  • heterogeneity
  • somatic mutations
  • whole genome amplification

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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