University of Exeter Medical School, Exeter, UK
info@hyperinsulinismgenes.org
University of Exeter Medical School, Exeter, UK
info@hyperinsulinismgenes.orgThe FAIR principles—Findable, Accessible, Interoperable, and Reusable—help make research data easy to locate, share, and use. At the Exeter Centre for Hyperinsulinism Genetics, we make sure our datasets are clearly labelled, stored in open-access repositories whenever possible, use standard formats, and come with detailed notes so others can use them too. By following these principles, we make our research open, practical, and easy for others to build on.
The Genetic Beta Cell Research Bank (GBCRB) is a tissue bank with over-arching ethics to carry out research into the mechanisms and genetic causes of hyperinsulinism other beta cell disorders. It stores samples from diagnostic archives and residual samples from research activity where enduring consent has been given. The GBCRB ensures effective guardianship of these samples, with a Steering Committee that reviews all requests to use samples and associated data to ensure they are sensibly used to improve the diagnosis, care and treatment of genetic hyperinsulinism and diabetes.
We publish in open access journals to ensure that our research is freely available to the global community. Manuscripts are also uploaded to preprint servers such as Medrxiv ahead of publication.
All code developed as part of our projects is publicly accessible on GitHub, allowing others to reproduce, validate, and build upon our analyses. We share detailed methodologies to promote reproducibility and enable others to apply or adapt our approaches.
All genetic variants identified in our studies are uploaded to DECIPHER, contributing to a shared resource that supports variant interpretation, patient care, and the discovery of new disease mechanisms. We will soon be uploading our variant data to ClinVar.
The Exeter team are members of the ClinVar Monogenic Diabetes Expert Panel (MDEP), which is curating publicly-available list of genes and variants in the congenital hyperinsulinism genes.
Members of the Exeter Team have also published gene-specific Mutation Updates which provide information of published variants as well as unpublished variants in the Exeter dataset.
All non-clinical data analysed through our research are included in open-access publications and their supplementary information files. Unpublished anonymised clinical and genotype research-consented data is available only through collaboration to approved individuals/groups working on beta-cell disorders of insulin secretion. Requests for collaboration will be considered following an application to the Genetic Beta Cell Research Bank (https://www.diabetesgenes.org/current-research/genetic-beta-cell-research-bank/).
