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. 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, Diverse Data Programme and Newborns Long Read sequencing initiative. The requirement is to provide sufficient consumables to meet the forecasts for remainder of FY24/25 and to fulfull the program outcomes. This relates to an initial purchase of 3900 flow cells and associated consumables, with the option to purchase a further 4400 flow cells and associated consumables for the programmed described above. The requirement relates to continuing to purchase Oxford Nanopore Technologies (ONT) PromethION Flowcells to continue the studies using the same technology.