Data for rare disease participants

There is a vast amount of data for rare disease participants. This document sums up what is available and points you to the detailed descriptive files on what is there.

Rare disease clinical data

Clinical data is contained in LabKey. Rare disease data include details of family relationships and the phenotypes and observations of rare disease. These tables are summarised in the 100kGP rare disease-specific clinical data and NHS-GMS rare disease-specific clinical data pages.

Some of the clinical tables contain the results of our bioinformatic analyses and have their own documentation pages describing the details of what these tables contain and how they were generated:

• De novo variant research dataset
• Tiering
• Exomiser

Overview video