Optimising accuracy and speed of structural variant calling using ONT WGS data: Application for analysis of tumour genomes


Long-read sequencing with Oxford Nanopore Technology (ONT) offers potential advantages over the current Illumina short-read sequencing used for identifying clinically relevant variants in tumour genomes. A clinical pipeline incorporating ONT long reads may enable the identification of new variants in hard-to-map regions, as well as disentangling complex structural variants, while reducing false positive rates, sample prep complexity and sequencing runtime, to provide faster, more accurate genomic reports back to clinicians.

Download the PDF