Rare Disease Pilot


Project summary

Genomics England and Queen Mary University of London (QMUL) researchers have access to the data from the rare disease pilot phase of the Project.

They are searching for the genomic causes of participants’ rare disease.

They will also develop the best ways to analyse this data, which will help in the main phase of the project.


  • To identify the cause of patients rare disease.
  • To assess and improve analysis tools and approaches. This is to optimise tools for ongoing analysis of the data.

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