Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy, through the sequencing of 100,000 genomes.
It is owned and funded by the Department of Health & Social Care and its four main aims are to:
- Create an ethical and transparent programme based on consent
- Bring benefit to patients and set up a genomic medicine service for the NHS
- Enable new scientific discovery and medical insights
- Kick-start the development of a UK genomics industry.
100,000 Genomes Project
The 100,000 Genomics Project was set up to sequence 100,000 whole genomes from NHS patients with rare diseases, and their families, as well as patients with common cancers. The dataset is made available to Genomics England Clinical Interpretation Partnership (GeCIP) researchers and trainees and access is via a secure analysis environment hosted within the Genomics England datacentre – the Genomics England ‘Research Environment’.
Analytical tools and applications are available within the Research Environment. The dataset includes de-identified, linked information for each participant covering Genome sequence data; phenotype/clinical data; Variant call files and Hospital Episode Statistics data.
- Research domains: https://www.genomicsengland.co.uk/about-gecip/research/
- Accessing the dataset: https://www.genomicsengland.co.uk/about-gecip/for-gecip-members/data-and-data-access/
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