Bisulfite-converted duplexes for the strand-specific detection and quantification of rare mutations.

ABSTRACT: The identification of mutations that are present at low frequencies in clinical samples is an essential component of precision medicine. The development of molecular barcoding for next-generation sequencing has greatly enhanced the sensitivity of detecting such mutations by massively parallel sequencing. However, further improvements in specificity would be useful for a variety of applications. We herein describe a technology (BiSeqS) that can increase the specificity of sequencing by at least two orders of magnitude over and above that achieved with molecular barcoding and can be applied to any massively parallel sequencing instrument. BiSeqS employs bisulfite treatment to distinguish the two strands of molecularly barcoded DNA; its specificity arises from the requirement for the same mut

SUBMITTER: Mattox AK 

PROVIDER: S-EPMC5422780 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature