biostudies-literatureBurck NEuropean Research CouncilISFEuropean Union’s Horizon 2020 research and innovation programme753-762https://www.ebi.ac.uk/biostudies/studies/S-EPMC7617058biostudies-literatureUnknown67(5)<h4>Background</h4>Circulating tumor DNAs (ctDNAs) are highly promising cancer biomarkers, potentially applicable for noninvasive liquid biopsy and disease monitoring. However, to date, sequencing of ctDNAs has proven to be challenging primarily due to small sample size and high background of fragmented cell-free DNAs (cfDNAs) derived from normal cells in the circulation, specifically in early stage cancer.<h4>Methods</h4>Solid-state nanopores (ssNPs) have recently emerged as a highly efficient tool for single-DNA sensing and analysis. Herein, we present a rapid nanopore genotyping strategy to enable an amplification-free identification and classification of ctDNA mutations. A biochemical ligation detection assay was used for the creation of specific fluorescently-labelled short DNA reportClinical chemistryNanopore Identification of Single Nucleotide Mutations in Circulating Tumor DNA by Multiplexed Ligation.PMC76170588333993485/19Burck NSchneider RJGilboa TMeller APatkin Nehrer MGadi AfalseNanopore Identification of Single Nucleotide Mutations in Circulating Tumor DNA by Multiplexed Ligation.<h4>Background</h4>Circulating tumor DNAs (ctDNAs) are highly promising cancer biomarkers, potentially applicable for noninvasive liquid biopsy and disease monitoring. However, to date, sequencing of ctDNAs has proven to be challenging primarily due to small sample size and high background of fragmented cell-free DNAs (cfDNAs) derived from normal cells in the circulation, specifically in early stage cancer.<h4>Methods</h4>Solid-state nanopores (ssNPs) have recently emerged as a highly efficient tool for single-DNA sensing and analysis. Herein, we present a rapid nanopore genotyping strategy to enable an amplification-free identification and classification of ctDNA mutations. A biochemical ligation detection assay was used for the creation of specific fluorescently-labelled short DNA report2021-01-01T00:00:00Z2021 Apr2025-04-04T00:21:36.687Z2025-04-04T00:21:36.687ZS-EPMC76170583349631510.1093/clinchem/hvaa328