Whole genome sequencing services

Description

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 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.