Whole Genome Sequencing (WGS) Long Read Instruments & Consumables

Description

The supply of instruments and consumables that provides a solution to enable investigations into methylation (5mC,5hmC), structural variant calling, copy number variant analysis and single nucleotide polymorphisms (SNP) detection, using native DNA sequencing for 1000 Cancer participant samples. Lot 1: Genomics England continues to explore long-read and methylation sequencing in cancer within the NHS and accurately to sequence genomes of under-represented and diverse ancestries with a view that this novel technology could open opportunities to identify not only known genomic features and aberrations but also those that are currently unidentifiable using existing sequencing technologies. This could facilitate immediate returns in diagnostic value to the NHS and reaping more meaningful rewards in the near future through more thorough analysis of the whole genome. Long-read analytical methods are still in their infancy, Genomics England is building a knowledge hub around the trusted research environment for individuals to train their methods; in turn these methods feed into the clinical pipeline of the future. Nurturing the research environment will permit the discovery of new diagnostic and prognostic markers as well as potential new targets for drug discovery to benefit patients in the future. Genomics England has a requirement to continue to purchase Long Read sequencing technology to fulfil its needs in relation to its Cancer Programme. The requirement is to provide sufficient sequencing instruments and necessary consumables and kit to meet the forecasts for the 3rd year of the Cancer programme through FY24/25. The requirement also includes appropriate support & maintenance and licenses required for operation. This relates to 1000 Cancer participant samples in this period. The requirement relates to continuing to purchase Oxford Nanopore Technologies (ONT) PromethION Flowcells to continue the study using the same technology.