Sunday 25 September 2022

There is more to the genome: increasing the range of actionable high-confidence neoantigen discovery by whole genome sequencing

Next-generation sequencing has become indispensable in current clinical diagnostics settings. In cancer settings in particular, sequencing enables the exhaustive molecular characterisation of tumours, paving the way for better subtype classification, tailored therapies based on the presence of select driver mutations, and even fully personalised therapies leveraging the molecular make-up of the tumour against itself.

The detailed outline below clearly confirms the benefits of exchanging WES by WGS in clinical personalised variant identification workflows. WGS is not only more sensitive and generates more reliable calls, but also allows the identification of more variant types in comparison with WES.. In addition, the ability of WGS to elucidate variants in non-coding regions of the genome, which have been shown to produce peptides, will further increase the pool of potential new therapeutic candidates.