Nanopore identification of single nucleotide mutations in circulating tumor DNA by multiplexed ligation:
In this paper we introduce a new and transformative technology, based on sophisticated solid state electro-optical Nanopore biosensors, to enable a highly practical method for DNA mutation identification and quantification.
This proof of principle study demonstrates how coupling our technology together with Ligation based SNV detection could potentially be used for clinical diagnosis of cancer biomarkers, especially relevant for early diagnosis of the disease. By permitting high degree of multiplexing of single nucleotide mutation samples and extremely high accuracy, our approach could offer a rapid and low-cost technique for ctDNA analysis that completely circumvents PCR amplification and library preparation.
