Whole genome sequencing services

A team of academics from the University of Exeter (Faculty of Health and Life Sciences) have funding from Diabetes UK and the Wellcome Trust to perform whole genome sequencing on patients with early-onset/neonatal diabetes, syndromic diabetes and Hyperinsulinism.

The aim of this work is to identify mutations in novel genes and non-coding regions causing these diseases.

The University of Exeter intends to award a contract to a single supplier for 12-months, with the option to extend by 3 further 12-month periods, to provide human whole genome sequencing services to at least 30X average coverage. It is highly desirable that these services use either of the University’s preferred sequencing technology: Illumina or BGI sequencing. This is due to the established bioinformatics and analysis pipelines using these technologies.

These samples are from our Genetic Beta-Cell biobank of patients with suspected monogenic forms of diabetes or hyperinsulinism. Bidders using alternative technology may submit a bid, however, must be able to provide the University with assurance that equivalent results/data will be produced.

Via this funding route, the University expects to be able to provide between 100 and 200 samples per annum, to be sent to the supplier in batches throughout a 12-month period. The average number of samples submitted per annum for sequencing over the previous 5-year period is 131, however, please note that these figures are provided for indicative purposes only and are subject to increase/decrease dependent on research requirements.

A second funding application has been submitted to increase the scale of the above research. If this is successful, the University may require whole genome sequencing services for a further 1824 samples over a two-year period. However, this is subject to the application being successful and the University can make no commitment to these volumes.

Our full technical requirements can be found in document ‘UOE.2023.029.MB – Technical Specification and Pricing Schedule’.