Information for rare disease participants

Thank you to everyone taking part in the 100,000 Genomes Project.

We are very grateful for your participation. It is helping to increase understanding of the genetic causes of rare diseases and cancer.


Over 19,000 whole genomes have now been sequenced. We are analysing the genome data together with health data, to help us find the cause of disease. The analysis is complex and takes many months. Find out more about how we analyse a genome.

As soon as your data has been processed we will send the results to your NHS clinical team. They will contact you when they have confirmed our findings.

We expect that some patients will receive results over the next few months. Results will be returned to people throughout 2017 and 2018. Find out more about results.

The 100,000 Genomes Project is at the cutting edge of science.  No-one has ever attempted whole genome sequencing at this scale before as part of everyday care in hospitals. Thank you for your patience while we set up and test all the systems.

 Useful information

Genome Analysis

Find out how its done.



Latest updates for participants.


Genome analysis and results

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