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100,000 Genome project helps diagnose patients


Department of Computer Science Prof Jim Davies has been working at Genomics England on the 100,000 Genomes Project. The project is focused on understanding the genetics of cancer and rare diseases, and it allows doctors to accurately identify exactly which gene abnormality has caused a particular symptom in the patient. The project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.

The research has now progressed to a stage that has enabled doctors to identify rare diseases in previously un-diagnosable children. In future this should lead to quicker diagnosis and better treatment for patients with rare diseases. Read more here: