Contains tables with data related to genomic data and the outputs from the GEL interpretation pipeline data for participants from both cancer and rare disease programmes. These tables do not directly include primary + secondary sources of clinical data. To identify and enrol participants for the 100,000 Genomes Project we have created NHS Genomic Medicine Centres (GMCs). Each centre includes several NHS Trusts and hospitals. GMCs recruit and consent patients. They then provide DNA samples and clinical information for analysis. Illumina, a biotechnology company, have been commissioned to sequence the DNA of participants. They return the whole genome sequences to Genomics England. We have created a secure, monitored, infrastructure to store the genome sequences and clinical data. The data is analysed within this infrastructure and any important findings, like a diagnosis, are passed back to the patient’s doctor. To help make sure that the project brings benefits for people who take part, we have created the Genomics England Clinical Interpretation Partnership (GeCIP). GeCIP brings together funders, researchers, NHS teams and trainees. They will analyse the data – to help ensure benefits for patients and an increased understanding of genomics. The data will also be used for medical and scientific research. This could be research into diagnosing, understanding or treating disease. Find out more To learn more about how we work you can read the 100,000 Genomes Project protocol. It has details of the development, delivery and operation of the project. It also sets out the patient and clinical benefit, scientific and transformational objectives, the implementation strategy and the ethical and governance frameworks.


Name: HDR UK Innovation Gateway Access


sequencing genomics data dna data-can

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