Rare disease documents

List of Rare Diseases GMC version (pdf)

Rare Disease Eligibility Statements

Eligibility Wheels  (via HEE website) – tools to help identify eligible participants

Rare Disease Data Models (pdf)

Guidelines for Family Pedigree Selection (pdf)

Guidelines for rare disease model development and review (pdf)

A cardiologists guide to the 100,000 Genomes Project (pdf)

100,000 Genomes Project Protocol

The 100,000 Genomes Project Protocol

More information

Sample handling guidance

View the current sample handling guidance. Covers both rare disease and cancer.

Data submission guides

Includes guides to LabKey, Open Clinica, BuRST messaging, UAT and more.


Frequently asked questions on eligibility, recruitment, consent, samples, results and analysis.

Recruitment materials

Download posters, flyers, videos to advertise the Project, and all the participant information sheets and consent forms.

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