Quantitative detection of low-abundance somatic structural variants in normal cells by high-throughput sequencing

Wilber Quispe-Tintaya, Tatyana Gorbacheva, Moonsook Lee, Sergei Makhortov, Vasily N. Popov, Jan Vijg, Alexander Maslov

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

The detection and quantification of low-abundance somatic DNA mutations by high-throughput sequencing is challenging because of the difficulty of distinguishing errors from true mutations. There are several approaches available for analyzing somatic point mutations and small insertions or deletions, but an accurate genome-wide assessment of somatic structural variants (somSVs) in bulk DNA is still not possible. Here we present Structural Variant Search (SVS), a method to accurately detect rare somSVs by low-coverage sequencing. We demonstrate direct quantitative assessment of elevated somSV frequencies induced by known clastogenic compounds in human primary cells.

Original languageEnglish (US)
Pages (from-to)584-586
Number of pages3
JournalNature Methods
Volume13
Issue number7
DOIs
StatePublished - Jun 29 2016

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Biology
  • Biochemistry
  • Cell Biology

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