The project was established to sequence 100,000 genomes from around 85,000 NHS patients affected by a rare disease, or cancer.
Combining genomic sequence data with medical records has created a ground-breaking research resource. Researchers are currently studying how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis and treatment of disease is also being investigated. Revealing which variants cause disease is also helping companies find new targeted medicines. Kick-starting a UK genomics industry was another key aim of the project and the UK now has a vibrant genomics ecosystem.
Recruitment of participants to the 100,000 Genomes Project was completed in 2018, with the 100,000th sequence achieved in December 2018.