Genome medicine for platelet disorders (access to 'Chromoscope' data platform)

Study code

Lead researcher
Dr Hugo Ferreira Ponte

Study type
Data only

Institution or company
University of Cambridge (Department of Medicine)

Researcher type

Speciality area
Genomics and Rare Diseases, Haematology


Editors note:
The researchers behind this study are looking to further understand the genetic basis of this condition through accessing data on genotypes related to blood platelet disorders 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.