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