Primary Immune Deficiency (access to 'Chromoscope' data platform)
Prof. Christoph Hess
Institution or company
University of Cambridge (Cambridge Immunology Network)
Genomics and Rare Diseases, Infection
The researchers behind this study are looking to further understand the genetic basis of this condition through accessing data on genotypes related to primary immunodeficiency held on the University of Cambridge’s 'Chromoscope’* data platform.
* ‘Chromoscope’ is a data platform used by researchers wishing to analyse rare genetic variants. For the NIHR Bioresource Rare Disease Project, DNA from consenting participants was collected and their genetic information was stored for future research use. In order for this data to be anonymously accessed for research purposes the NIHR BioResource created an application called ‘Chromoscope’ (previously known as ‘Gene Docs’). ‘Chromoscope’ allows approved researchers to access this genetic data. Before access is given researchers must submit an application to the NIHR BioResource requesting access. The BioResource reviews these applications and if approved, researchers are given access to the required anonymised data.