Version: 19.0.2 | Published: 23 Jan 2026 | Updated: 33 days ago
Summary
Documentation
Associated Media:
Description:
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.
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.
Coverage
Spatial:
UK
Typical Age Range Min:
0
Typical Age Range Max:
150
Material Type:
DNA
Follow Up:
Other
Pathway:
Linked datasets cover secondary care.
Provenance
Origin
Purpose:
- Care
- Disease registry
- Study
Dataset Type:
Health and disease
Source:
Machine generated
Collection Source:
Clinic
Temporal
Publishing Frequency:
Quarterly
Distribution Release Date:
30 March 2023
Start Date:
01 January 2014
End Date:
01 January 2019
Time Lag:
2-6 months
Accessibility
Access
Access Rights:
Access Service:
More information about the Genomics England Research Environment can be found
here: https://www.genomicsengland.co.uk/research Genomics England 100k
participants have consented to longitudinal lifetime followup and recontact
safely through our clinical network. BRST (Bioinformatics Research Services) are
a team of bioinformatics who know the dataset inside out and provide consultancy
projects on a case by case basis. Our network of clinical and medical experts
can be made available on case by case basis. Researchers have the opportunity to
work with our and access the GeCIP network who are a community of world-leading
experts in specific cancers and rare diseases.
Access Request Cost:
Fees will be dependent on the type of access that is necessary. Raw data is not
eligible for export. Summary-level data may be exported provided that it is
approved through the Genomics England Airlock Process
Delivery Lead Time:
2-6 months
Data Controller:
GENOMICS ENGLAND
Data Processor:
GENOMICS ENGLAND
Jurisdiction:
Great Britain
Usage
Data Use Limitation:
General research use
Data Use Requirements:
- Ethics approval required
- Project-specific restrictions
- Publication moratorium
Resource Creator:
The 100 000 Genomes Project Protocol v3, Genomics England. doi:10.6084/m9.figshare.4530893.v3. 2017. Publications that use the Genomics England Database should include an author as Genomics England Research Consortium. Please see the publication policy.
Format and Standards
Vocabulary Encoding Scheme:
OTHER
Conforms To:
OTHER
Language:
English
Format:
Multiple Formats Available
Enrichment and Linkage
Derived From
PID
Title
URL
Not Known
Observations
Statistical Population
Population Description
Population Size
Measured Property
Observation Date
Findings
Rare Disease - Number of genomes
73517
Count
30 March 2023
Findings
Cancer Tumour - Number of genomes
17003
Count
30 March 2023
Findings
Cancer Germline - Number of genomes
32753
Count
30 March 2023
Persons
Cancer Participants
15624
Count
30 March 2023
Persons
Rare Disease Participants
72874
Count
30 March 2023
Origin
Name:
Data Catalogue