To access and provide NIHR BioResource Rare Disease Genomes across all eligible disorders within the Genomics England Research Environment as an anonymised dataset alongside the 100,000 Genomes Project main programme data

Study code

Lead researcher
Mark Caulfield

Study type
Data only

Institution or company
Genomics England Ltd

Researcher type

Speciality area
Genomics and Rare Diseases


We are seeking access to the Human Phenotype Ontology (HPO) terms of most of the 13,027 NIHR BioResource participants with whole genome sequence (WGS) data, which have been enrolled in the rare diseases Pilot I study for the 100,000 Genomes Project. We do not seek access to data from: 

- the UK Biobank participants included in the pilot project, 

- participants enrolled at non-UK hospitals  

- participants who have explicitly stated that they don’t want their data to be present in the Genomics England database (in response to the Opt Out letter) 

- participants who have withdrawn from the NIHR BioResource 

- participants with an incomplete consent form  

We also seek access from the participants who have NOT opted out from the request ‘of having their pheno- and geno-type data and their Personal Identifiable Details copied to Genomics England Ltd.  

The aim of the project is to aggregate the above genotype and phenotype data from NIHR BioResource participants with the data from the Main Programme so that there is increased power of analysis to identify the causal variants in the study participants.